Next Generation Sequencing Competence Network

Next Generation Sequencing Competence Network

e.g. CCGA
(min 2 characters)

Regina C. Betz

Prof.
University of Bonn
University Hospital Bonn, Institute for Human Genetics
Venusberg-Campus 1, 53127 Bonn, Germany
Bonn 53127
+49 228 28751023
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Cesarato N, Schwieger-Briel A, Gossmann Y, Henne SK, Hillmann K, Frommherz LH, Wehner M, Xiong X, Thiele H, Oji V, Milani D, Tantcheva-Poor I, Giehl K, F?lster-Holst R, Teichler A, Braeckmans D, Hoeger PH, Jones G, Frank J, Weibel L, Blume-Peytavi U, Hamm H, N?then MM, Geyer M, Heilmann-Heimbach S, Basmanav FB, Betz RC. Short anagen hair syndrome: Association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss. Br J Dermatol. 2023 Sep 06. PMID: 37671665.
      Citations: 1     Fields:    Translation:Humans
    2. Kumar S, Hausen J, Sivalingam S, Humbatova A, Buness A, Frank J, Ralser DJ, Betz RC. Altered Notch signalling in Dowling-Degos disease: A transcriptomic insight into disease pathogenesis. Br J Dermatol. 2023 Aug 25. PMID: 37625796.
      Citations:    Fields:    Translation:HumansCells
    3. Kumar S, Borisov O, Maj C, Ralser DJ, Humbatova A, Hanneken S, Gro? J, Maintz L, Heineke A, Knuever J, Fagerberg C, Parmentier L, Anem?ller W, Oji V, Tantcheva-Po?r I, F?lster-Holst R, Krawitz PM, Frank J, Betz RC, Schmieder A, Wenzel J. Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease. J Invest Dermatol. 2023 Jul 17. PMID: 37468035.
      Citations: 1     Fields:    Translation:Humans
    4. Kumar S, Wenzel J, Sch?n MP, Betz RC, Frank J. POGLUT1-Varianten bei Morbus Dowling-Degos - Assoziation mit spezifischen klinischen und histopathologischen Merkmalen? J Dtsch Dermatol Ges. 2023 05; 21(5):540-541. PMID: 37183756.
      Citations:    Fields:    
    5. Braun T, Wehner M, Teichler A, Betz RC, Hoeger PH. Identification of a novel sporadic U2HR pathogenic variant in a patient with Marie Unna hereditary hypotrichosis. Pediatr Dermatol. 2023 May-Jun; 40(3):466-467. PMID: 37012647.
      Citations:    Fields:    Translation:Humans
    6. Frank J, Has C, Betz RC. Ausgew?hlte Genodermatosen - Stand der Dinge und Zukunftsaussichten. J Dtsch Dermatol Ges. 2023 04; 21(4):337-342. PMID: 37070517.
      Citations:    Fields:    
    7. Lieberoth S, Kumar S, Brusgaard K, Ousager LB, Betz RC, Bygum A. Identification of a Novel PLCD1 Variant in a Danish Family with Hereditary Leukonychia. Skinmed. 2023; 21(1):44-46. PMID: 36987828.
      Citations:    Fields:    Translation:Humans
    8. Frank J, Has C, Betz RC. Selected genodermatoses - Status quo and future prospects. J Dtsch Dermatol Ges. 2023 04; 21(4):337-341. PMID: 36976174.
      Citations: 1     Fields:    Translation:Humans
    9. Xiong X, Uddin SA, Cesarato N, Thiele H, Hassan N, Kumar S, Rehman FU, Naeem M, Wali A, Basmanav FB, Ayub M, Betz RC, Munir S, Basit S. A TMC8 splice variant causes epidermodysplasia verruciformis in a Pakistani family. Clin Exp Dermatol. 2023 03 22; 48(4):434-437. PMID: 36750324.
      Citations: 1     Fields:    Translation:Humans
    10. Hotz A, Kopp J, Bourrat E, Oji V, S??muth K, Komlosi K, Bouadjar B, Tantcheva-Po?r I, Hellstr?m Pigg M, Betz RC, Giehl K, Schedel F, Weibel L, Schulz S, St?lzl DV, Tadini G, Demiral E, Berggard K, Zimmer AD, Alter S, Fischer J. Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis. Genes (Basel). 2023 03 15; 14(3). PMID: 36980989; PMCID: PMC10048568.
      Citations: 2     Fields:    Translation:Humans
    11. Foo JC, Streit F, Witt SH, Sirignano L, Zillich L, Ripke S, Rietschel M, Frank J, Redler S, Forstner AJ, Basmanav FB, Pethukova L, Guo J, Christiano AM, Tesch F, Schmitt J, N?then MM, Betz RC, Awasthi S. Exploring the overlap between alopecia areata and major depressive disorder: Epidemiological and genetic perspectives. J Eur Acad Dermatol Venereol. 2023 Jan 25. PMID: 36695075.
      Citations: 1     Fields:    
    12. Basmanav FB, Cesarato N, Kumar S, Borisov O, Kokordelis P, Ralser DJ, Wehner M, Axt D, Xiong X, Thiele H, Dolgin V, Gossmann Y, Fricker N, Dewenter MK, Weller K, Suri M, Reichenbach H, Oji V, Addor MC, Ramirez K, Stewart H, Garcia Bartels N, Weibel L, Wagner N, George S, Kilic A, Tantcheva-Poor I, Stewart A, Dikow N, Blaumeiser B, Medvecz M, Blume-Peytavi U, Farrant P, Grimalt R, Bertok S, Bradley L, Eskin-Schwartz M, Birk OS, Bygum A, Simon M, Krawitz P, Fischer C, Hamm H, Fritz G, Betz RC. Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals. JAMA Dermatol. 2022 11 01; 158(11):1245-1253. PMID: 36044230; PMCID: PMC9434486.
      Citations: 2     Fields:    Translation:Humans
    13. Betz RC. Genetic lessons learned from pathogenic variants in KRT1. J Eur Acad Dermatol Venereol. 2022 10; 36(10):1683-1684. PMID: 36106438.
      Citations:    Fields:    Translation:Humans
    14. Basmanav FB, Betz RC. Translational impact of omics studies in alopecia areata: recent advances and future perspectives. Expert Rev Clin Immunol. 2022 08; 18(8):845-857. PMID: 35770930.
      Citations:    Fields:    Translation:Humans
    15. Grimalt R, Drivenes JL, Betz RC. Uncombable hair. Tidsskr Nor Laegeforen. 2022 06 28; 142(10). PMID: 35763862.
      Citations:    Fields:    Translation:Humans
    16. Schmetz A, Xiong X, Cesarato N, Basmanav FB, Gierthmuehlen P, Schaper J, Schlieper D, Wehner M, Thiele H, Frank J, Betz RC, Redler S. Ph?notypische Vielfalt bei Varianten im TP63-Gen. J Dtsch Dermatol Ges. 2022 06; 20(6):871-875. PMID: 35711055.
      Citations:    Fields:    
    17. Xiong X, Cesarato N, Basmanav FB, Wehner M, Thiele H, Betz RC, Schmetz A, Gierthmuehlen P, Schaper J, Schlieper D, Frank J, Redler S. Phenotype diversity associated with TP63 mutations. J Dtsch Dermatol Ges. 2022 06; 20(6):872-875. PMID: 35593033.
      Citations:    Fields:    Translation:Humans
    18. Ou S, Cesarato N, Mauran P, Thiele H, Betz RC, Viguier M, Gusdorf L, Gell? MP. A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility. Clin Exp Dermatol. 2022 Jul; 47(7):1424-1426. PMID: 35574671.
      Citations:    Fields:    Translation:Humans
    19. Betz RC, Bygum A, Drivenes JL. A girl with unruly locks: molecular genetics makes a diagnosis of uncombable hair syndrome. Lancet. 2022 03 12; 399(10329):1079. PMID: 35279260.
      Citations:    Fields:    Translation:Humans
    20. Nanda A, Xiong X, AlLafi A, Cesarato N, Betz RC. Cole disease due to a novel pathogenic variant in the ENPP1 gene. J Eur Acad Dermatol Venereol. 2022 07; 36(7):e559-e561. PMID: 35220637.
      Citations: 1     Fields:    Translation:Humans
    21. Bar-Haim A, Moosa S, Gripp KW, Fleischer N, Bonini G, Kamphans T, Meiswinkel W, Schmidt A, Peters S, Engels H, Mangold E, Cremer K, Perne C, Betz RC, Bender T, Wagner M, Brunet T, Bentzen HB, Coetzer KC, Lyon GJ, Schaaf CP, Hsieh TC, Ehmke N, Pantel JT, Danyel M, Mensah MA, Horn D, Rosnev S, Hustinx A, Schmid A, Knaus A, Javanmardi B, Klinkhammer H, Lesmann H, Sivalingam S, Ebstein F, Kr?ger E, K?ry S, B?zieau S, Krei? M, Grundmann-Hauser K, Haack TB, Averdunk L, Spielmann M, Mundlos S, N?then MM, Krawitz PM. GestaltMatcher facilitates rare disease matching using facial phenotype descriptors. Nat Genet. 2022 03; 54(3):349-357. PMID: 35145301; PMCID: PMC9272356.
      Citations: 40     Fields:    Translation:Humans
    22. Thiele H, Marko HL, Hornig NC, Betz RC, Holterhus PM, Altm?ller J, Fabiano M, Schweikert HU, Braun D, Schweizer U. Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development. Hum Mutat. 2022 03; 43(3):420-433. PMID: 34979047.
      Citations:    Fields:    Translation:HumansAnimals
    23. Ralser DJ, Betz RC, Hermasch MA, Janning H, Perera RP, Schnabel V, Rostam N, Ramos-Gomes F, Muschalek W, Bennemann A, Alves F, Sch?n MP, Dosch R, Frank J. Evolutionary distinct roles of ?-secretase subunit nicastrin in zebrafish and humans. J Dermatol Sci. 2022 Feb; 105(2):80-87. PMID: 35016821.
      Citations: 1     Fields:    Translation:HumansAnimals
    24. Nanda A, AlLafi A, Wolf S, AlMasry IM, Betz R. TP63-related disorders: two case reports and a brief review of the literature. Dermatol Online J. 2021 Nov 15; 27(11). PMID: 35130400.
      Citations:    Fields:    Translation:Humans
    25. Wolf S, Betz RC, Schnabel V, Hermasch MA, Sch?n MP, Frank J. A woman with hyperpigmented macules and papules. J Dtsch Dermatol Ges. 2021 11; 19(11):1656-1660. PMID: 34751497.
      Citations: 1     Fields:    Translation:Humans
    26. Schnabel V, Hermasch MA, Wolf S, Sch?n MP, Betz RC, Frank J. Eine Frau mit hyperpigmentierten Maculae und Papeln. J Dtsch Dermatol Ges. 2021 Nov; 19(11):1655-1659. PMID: 34811908.
      Citations:    Fields:    
    27. Hochfeld LM, Broadley D, Botchkareva NV, Betz RC, Schoch S, Heilmann-Heimbach S, Bertolini M, N?then MM. Evidence for a functional interaction of WNT10A and EBF1 in male-pattern baldness. PLoS One. 2021; 16(9):e0256846. PMID: 34506541; PMCID: PMC8432770.
      Citations: 3     Fields:    Translation:HumansCells
    28. Cesarato N, Wehner M, Ghughunishvili M, Schmidt A, Axt D, Thiele H, Lentze MJ, Has C, Geyer M, Basmanav FB, Betz RC. Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes. Am J Med Genet A. 2021 12; 185(12):3900-3904. PMID: 34318586.
      Citations: 1     Fields:    Translation:Humans
    29. Ibrahim A, Buket Basmanav F, Bohelay G, Betz RC, Caux F, L?vy A. Atrichia with papular lesions: a differential diagnosis of alopecia universalis not to be missed. J Eur Acad Dermatol Venereol. 2021 Nov; 35(11):e801-e803. PMID: 34169584.
      Citations:    Fields:    Translation:Humans
    30. Basmanav FB, Wolf S, Betz RC, Kondo RN, Minelli L, Frank J. Hair loss, facial dysmorphology, and skeletal alterations - a diagnostic challenge. Int J Dermatol. 2021 Oct; 60(10):e419-e421. PMID: 34152005.
      Citations:    Fields:    Translation:Humans
    31. Denisova E, Westphal D, Meier F, Hutter B, Schulz A, Sergon M, Ziemer M, Brors B, Betz RC, Surowy HM, Reifenberger J, R?tten A, Redler S. Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies. Cancer Gene Ther. 2022 06; 29(6):697-708. PMID: 34045664; PMCID: PMC9209330.
      Citations: 6     Fields:    Translation:Humans
    32. Pan C, Humbatova A, Zheng L, Cesarato N, Chen F, Blaumeiser B, Cheng R, Li Y, Yu X, Yao Z, Li M, Betz RC, Grimm C, Catal?n-Lamb?n A, Pati?o-Garc?a A, Fischer U. Additional causal SNRPE mutations in hereditary hypotrichosis simplex. Br J Dermatol. 2021 08; 185(2):439-441. PMID: 33792916.
      Citations: 1     Fields:    Translation:Humans
    33. Wall D, Meah N, York K, Bhoyrul B, Bokhari L, Abraham LS, Bergfeld W, Betz RC, Callender V, Campbell C, Chambers J, Chen G, Chitreddy V, Cotsarelis G, Craiglow B, Dhurat R, Dlova N, Donovan J, Duque-Estrada B, Eisman S, Ellison A, Farrant P, Gadzhigoroeva A, Harries M, Hordinsky M, Irvine AD, Jolliffe V, Jones L, King B, Lee WS, Lortkipanidze N, McMichael A, Messenger A, Mirmirani P, Olsen E, Orlow SJ, Ovcharenko Y, Piraccini BM, Rakowska A, Riley M, Rudnicka L, Shapiro J, Sharma P, Silyuk T, Kaiumov S, Tobin DJ, Tosti A, Wade M, Yip L, Zlotogorski A, Zhou C, Sinclair R, Adams R, Blume-Peytavi U, Barber? JF, Grimalt R, Pirmez R, Reygagne P, Saceda Corralo D, Va??-Galv?n S, Vogt A. A Global eDelphi Exercise to Identify Core Domains and Domain Items for the Development of a Global Registry of Alopecia Areata Disease Severity and Treatment Safety (GRASS). JAMA Dermatol. 2021 04 01; 157(4):1-11. PMID: 33656556.
      Citations: 4     Fields:    Translation:Humans
    34. Hotz A, Kopp J, Bourrat E, Komlosi K, Giehl K, Bouadjar B, Bygum A, Tantcheva-Poor I, Has C, Yang Z, Irvine AD, Betz RC, Gruber R, Schmuth M, van den Akker P, Bolling MC, Hannula-Jouppi K, Zimmer AD, Alter S, Vahlquist A, Fischer J, Oji V, Hellstr?m Pigg M, Zambruno G, Tadini G, S??muth K, Mazereeuw-Hautier J, Jonca N, Guez S, Brena M, Hernandez-Martin A. Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients. Genes (Basel). 2021 01 09; 12(1). PMID: 33435499; PMCID: PMC7826849.
      Citations: 7     Fields:    Translation:Humans
    35. Betz RC, Hermasch MA, Janning H, Schnabel V, Muschalek W, Bennemann A, Sch?n MP, Dosch R, Frank J. NCSTN Deficiency and Depigmentation: All About Tyrosinase? J Invest Dermatol. 2021 05; 141(5):1331-1334. PMID: 33065108.
      Citations:    Fields:    
    36. Uddin SA, Cesarato N, Humbatova A, Schmidt A, urRehman F, Naeem M, Tareen AS, Wolf S, Panezai MA, Thiele H, Wali A, Basit S, Ayub M, Betz RC, F?lster-Holst R. Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing. Acta Derm Venereol. 2020 Sep 30; 100(16):adv00275. PMID: 32926178; PMCID: PMC9235007.
      Citations: 1     Fields:    Translation:HumansCells
    37. Meah N, Wall D, York K, Bhoyrul B, Bokhari L, Asz-Sigall D, Bergfeld WF, Betz RC, Callender V, Chitreddy V, Combalia A, Cotsarelis G, Craiglow B, Donovan J, Eisman S, Farrant P, Green J, Harries M, Hordinsky M, Irvine AD, Itami S, Jolliffe V, King B, Lee WS, McMichael A, Messenger A, Mirmirani P, Olsen E, Orlow SJ, Piraccini BM, Rakowska A, Roberts JL, Rudnicka L, Shapiro J, Sharma P, Tosti A, Wade M, Yip L, Zlotogorski A, Sinclair RD, Blume-Peytavi U, Grimalt R, Reygagne P, Vogt A. The Alopecia Areata Consensus of Experts (ACE) study part II: Results of an international expert opinion on diagnosis and laboratory evaluation for alopecia areata. J Am Acad Dermatol. 2021 Jun; 84(6):1594-1601. PMID: 32926985.
      Citations: 17     Fields:    Translation:Humans
    38. Basmanav FB, Betz RC, N?then MM. Insights Into the Biology of Persistent Chemotherapy-Induced Alopecia via Genomic Approaches-An Avenue to Clinical Translation? JAMA Dermatol. 2020 09 01; 156(9):947-948. PMID: 32756883.
      Citations:    Fields:    Translation:Humans
    39. Wang H, Humbatova A, Liu Y, Qin W, Lee M, Cesarato N, Kumar S, Romano MT, Dai S, Mo R, Sivalingam S, Motameny S, Wu Y, Wang X, Niu X, Geng S, Bornholdt D, Kroisel PM, Tadini G, Walter SD, Girisha KM, Calza AM, Bottani A, Buness A, Yang S, Sun X, Ma L, Kutsche K, Grzeschik KH, Betz RC, Lin Z, Kort?m F, Hauck F, Altm?ller J. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome. Am J Hum Genet. 2020 07 02; 107(1):34-45. PMID: 32497488; PMCID: PMC7332643.
      Citations: 14     Fields:    Translation:Humans
    40. Ralser DJ, Kumar S, Borisov O, Sarig O, Richard G, Wolf S, Krawitz PM, Sprecher E, Betz RC, Krei? M. Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome. Br J Dermatol. 2020 10; 183(4):756-757. PMID: 32282935.
      Citations: 2     Fields:    Translation:Humans
    41. Malki L, Sarig O, Cesarato N, Mohamad J, Canter T, Assaf S, Pavlovsky M, Vodo D, Anis Y, Bihari O, Malovitski K, Gat A, Thiele H, White BEP, Samuelov L, Nanda A, Paller AS, Betz RC, Sprecher E. Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis. Genet Med. 2020 07; 22(7):1227-1234. PMID: 32336749; PMCID: PMC7405639.
      Citations: 2     Fields:    Translation:Humans
    42. Meah N, Wall D, York K, Bhoyrul B, Bokhari L, Sigall DA, Bergfeld WF, Betz RC, Callender V, Chitreddy V, Combalia A, Cotsarelis G, Craiglow B, Donovan J, Eisman S, Farrant P, Green J, Harries M, Hordinsky M, Irvine AD, Itami S, Jolliffe V, King B, Lee WS, McMichael A, Messenger A, Mirmirani P, Olsen E, Orlow SJ, Piraccini BM, Rakowska A, Reygagne P, Roberts JL, Rudnicka L, Shapiro J, Sharma P, Tosti A, Wade M, Yip L, Zlotogorski A, Sinclair R, Blume-Peytavi U, Grimalt R, Vogt A. The Alopecia Areata Consensus of Experts (ACE) study: Results of an international expert opinion on treatments for alopecia areata. J Am Acad Dermatol. 2020 Jul; 83(1):123-130. PMID: 32165196.
      Citations: 43     Fields:    Translation:Humans
    43. Schlaweck AE, Tazi-Ahnini R, Mohungoo J, Pasternack-Ziach SM, Oprisoreanu AM, Humbatova A, Wolf S, Messenger A, Betz RC, ? Basmanav FB, Mattheisen M. Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2. PLoS One. 2019; 14(12):e0225943. PMID: 31790498; PMCID: PMC6886801.
      Citations:    Fields:    Translation:HumansCells
    44. Knuever J, Persa OD, Illerhaus A, Ralser DJ, Hartmann K, Betz RC, Tantcheva-Po?r I. Mast cell activation in Dowling-Degos disease. Br J Dermatol. 2019 12; 181(6):1312-1314. PMID: 31206596.
      Citations:    Fields:    Translation:HumansCells
    45. Ijaz A, Wolf S, Mandukhail SR, Basit S, Betz RC, Wali A. UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan. J Dermatol Sci. 2019 Sep; 95(3):113-118. PMID: 31421932.
      Citations: 3     Fields:    Translation:Humans
    46. Hermasch MA, Sch?n MP, Betz RC, Frank J. J Dtsch Dermatol Ges. 2019 Aug; 17(8):845-847. PMID: 31437369.
      Citations:    Fields:    
    47. Betz RC. Novel mutation for disseminated superficial actinic porokeratosis and its functional impact at the protein level. Br J Dermatol. 2019 08; 181(2):241. PMID: 31340066.
      Citations:    Fields:    Translation:Humans
    48. Betz RC, Hermasch MA, Sch?n MP, Frank J. Two females with hair loss. J Dtsch Dermatol Ges. 2019 08; 17(8):845-847. PMID: 31305016.
      Citations:    Fields:    Translation:Humans
    49. Frank J, Betz RC. [Hair anomalies in syndromic disorders]. Hautarzt. 2019 Jul; 70(7):514-519. PMID: 31197391.
      Citations:    Fields:    Translation:Humans
    50. Emmert S, Iben S, Fischer J, Komlosi K, Betz RC, Frank J J, Has C. Ein neues Forum f?r seltene Hauterkrankungen. J Dtsch Dermatol Ges. 2019 Jun; 17(6):672-673. PMID: 31241841.
      Citations:    Fields:    
    51. Gliem C, Minnerop M, Roeske S, Schoene-Bake JC, Adler S, Witt JA, Hoffstaedter F, Schneider-Gold C, Betz RC, Helmstaedter C, Tittgemeyer M, Amunts K, Klockgether T, Weber B, Kornblum C, G?rtner H. Tracking the brain in myotonic dystrophies: A 5-year longitudinal follow-up study. PLoS One. 2019; 14(3):e0213381. PMID: 30845252; PMCID: PMC6405094.
      Citations: 21     Fields:    Translation:Humans
    52. Malki L, Sarig O, Romano MT, M?chin MC, Peled A, Pavlovsky M, Warshauer E, Samuelov L, Uwakwe L, Briskin V, Mohamad J, Gat A, Isakov O, Rabinowitz T, Shomron N, Adir N, Simon M, McMichael A, Dlova NC, Betz RC, Sprecher E. Variant PADI3 in Central Centrifugal Cicatricial Alopecia. N Engl J Med. 2019 02 28; 380(9):833-841. PMID: 30763140.
      Citations: 40     Fields:    Translation:Humans
    53. Ralser DJ, Takeuchi H, Effern M, Sivalingam S, El-Shabrawi-Caelen L, Degirmentepe EN, Singh M, Booken N, Spierings NMK, Heineke A, Knuever J, Wolf S, Wehner M, Tronnier M, Leverkus M, Has C, Haltiwanger RS, Betz RC, Fritz G, Basmanav FB, Kocat?rk E, Schnabel V, Tantcheva-Po?r I, Wenzel J, Oji V, H?lzel M, Frank J. Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis. J Invest Dermatol. 2019 04; 139(4):960-964. PMID: 30414910; PMCID: PMC6431572.
      Citations: 5     Fields:    Translation:HumansCells
    54. Romano MT, Tafazzoli A, Mattern M, Sivalingam S, Wolf S, Rupp A, Thiele H, Gambon R, Kohlschmidt N, Holdenrieder S, Paus R, Geyer M, Kokordelis P, Betz RC, Altm?ller J, N?rnberg P, Ellwanger J, Baumer A, Metze D, L?tjohann D, Frank J, Bertolini M. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. Am J Hum Genet. 2018 11 01; 103(5):777-785. PMID: 30401459; PMCID: PMC6218848.
      Citations: 16     Fields:    Translation:HumansCells
    55. Al-Zahrani HS, Al-Tala S, Mohamoud HSA, Al-Shehri BA, Al-Fadhel S, Al-Qurashi A, Al-Bishri A, Al-Aama JY, Kang C, Betz RC, Jelani M. Novel compound heterozygous and homozygous variants of laminin subunit ?3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia. Congenit Anom (Kyoto). 2019 May; 59(3):99-101. PMID: 29900604.
      Citations:    Fields:    Translation:HumansCells
    56. Humbatova A, Maroofian R, Romano MT, Tafazzoli A, Behnam M, Dilaver N, Nouri N, Salehi M, Wolf S, Kokordelis P, Betz RC, Frank J. An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction. Br J Dermatol. 2018 04; 178(4):e265-e267. PMID: 29278420.
      Citations: 1     Fields:    Translation:Humans
    57. Tafazzoli A, Forstner AJ, Broadley D, Hofmann A, Petukhova L, Giehl KA, Kruse R, Blaumeiser B, Rossi A, Lutz G, Wolff H, Soreq H, Christiano AM, Botchkareva NV, Betz RC, Redler S, B?hm M, Bertolini M, Garcia Bartels N, Blume-Peytavi U, N?then MM. Genome-Wide MicroRNA Analysis Implicates miR-30b/d in the Etiology of?Alopecia Areata. J Invest Dermatol. 2018 03; 138(3):549-556. PMID: 29080678.
      Citations: 14     Fields:    Translation:HumansCells
    58. Ralser DJ, Lestringant GG, Du-Thanh A, Kokordelis P, Fischer J, Wolf S, Thiele H, Fritz G, Betz RC, Basmanav FB?, Altm?ller J, N?rnberg P, Oji V, Frank J. Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura. Br J Dermatol. 2017 12; 177(6):e340-e343. PMID: 29192958.
      Citations:    Fields:    Translation:Humans
    59. Ralser DJ, Betz RC, Frank J. Intra- and Interfamilial Phenotype Variability Associated with Mutations in ?-Secretase Subunit-Encoding PSENEN. J Invest Dermatol. 2018 05; 138(5):1215-1218. PMID: 29138052.
      Citations: 1     Fields:    Translation:Humans
    60. Betz RC. A path through the reticulate pigmentation disorder jungle. Br J Dermatol. 2017 10; 177(4):893-894. PMID: 29052871.
      Citations: 1     Fields:    Translation:Humans
    61. Kirkegaard AO, Betz RC, Bygum A. [Monilethrix is a hereditary hair shaft disorder]. Ugeskr Laeger. 2017 Sep 11; 179(37). PMID: 28918778.
      Citations:    Fields:    Translation:Humans
    62. Blaumeiser B, Bartels NG, Lutz G, Tafazzoli A, Kruse R, Wolff H, Blume-Peytavi U, Becker T, Betz RC, Redler S, Basmanav FB?, B?hm M, N?then MM. Parent-of-origin Effect in Alopecia Areata: A Large-scale Pedigree Study. Acta Derm Venereol. 2017 Jul 06; 97(7):862-863. PMID: 28350042.
      Citations:    Fields:    Translation:Humans
    63. Messenger AG, Betz RC, Redler S. Genetics and other factors in the aetiology of female pattern hair loss. Exp Dermatol. 2017 06; 26(6):510-517. PMID: 28453904.
      Citations: 20     Fields:    Translation:HumansCells
    64. Telomeres Mendelian Randomization Collaboration, Haycock PC, Burgess S, Nounu A, Zheng J, Okoli GN, Bowden J, Wade KH, Timpson NJ, Evans DM, Willeit P, Aviv A, Gaunt TR, Hemani G, Mangino M, Ellis HP, Kurian KM, Pooley KA, Eeles RA, Lee JE, Fang S, Chen WV, Law MH, Bowdler LM, Iles MM, Yang Q, Worrall BB, Markus HS, Hung RJ, Amos CI, Spurdle AB, Thompson DJ, O'Mara TA, Wolpin B, Amundadottir L, Stolzenberg-Solomon R, Trichopoulou A, Onland-Moret NC, Lund E, Duell EJ, Canzian F, Overvad K, Gunter MJ, Tumino R, Svenson U, van Rij A, Baas AF, Bown MJ, Samani NJ, van t'Hof FNG, Tromp G, Jones GT, Kuivaniemi H, Elmore JR, Johansson M, Mckay J, Scelo G, Carreras-Torres R, Gaborieau V, Brennan P, Bracci PM, Neale RE, Olson SH, Gallinger S, Li D, Petersen GM, Risch HA, Klein AP, Han J, Abnet CC, Freedman ND, Taylor PR, Maris JM, Aben KK, Kiemeney LA, Vermeulen SH, Wiencke JK, Walsh KM, Wrensch M, Rice T, Turnbull C, Litchfield K, Paternoster L, SanGiovanni JP, Li Y, Mijatovic V, Sapkota Y, Low SK, Zondervan KT, Montgomery GW, Nyholt DR, van Heel DA, Hunt K, Arking DE, Ashar FN, Sotoodehnia N, Woo D, Rosand J, Comeau ME, Brown WM, Silverman EK, Hokanson JE, Cho MH, Hui J, Ferreira MA, Thompson PJ, Morrison AC, Felix JF, Smith NL, Christiano AM, Petukhova L, Betz RC, Fan X, Zhang X, Zhu C, Langefeld CD, Thompson SD, Wang F, Lin X, Schwartz DA, Fingerlin T, Rotter JI, Cotch MF, Jensen RA, Han F, Ollila HM, Hillary RP, Albagha O, Ralston SH, Zeng C, Zheng W, Shu XO, Kawamura Y, Otowa T, Sasaki T, Hibberd ML, Davila S, Xie G, Siminovitch K, Bei JX, Zeng YX, Chen B, Landi S, Franke A, Fischer A, Ellinghaus D, Flores C, Noth I, Ma SF, Foo JN, Liu J, Kim JW, Cox DG, Delattre O, Mirabeau O, Skibola CF, Tang CS, Garcia-Barcelo M, Chang KP, Su WH, Chang YS, Martin NG, Gordon S, Wade TD, Lee C, Kubo M, Cha PC, Nakamura Y, Levy D, Kimura M, Hwang SJ, Hunt S, Spector T, Soranzo N, Manichaikul AW, Barr RG, Kahali B, Speliotes E, Yerges-Armstrong LM, Cheng CY, Jonas JB, Wong TY, Fogh I, Lin K, Powell JF, Rice K, Relton CL, Martin RM, Davey Smith G, Severi G, Standl M, Abecasis GR, Munz M, Dommisch H, Schaefer AS, Reis A, Uebe S, H?ffmeier U, F?rsti A. Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study. JAMA Oncol. 2017 May 01; 3(5):636-651. PMID: 28241208; PMCID: PMC5638008.
      Citations: 257     Fields:    Translation:HumansCells
    65. Fischer J, Degenhardt F, Hofmann A, Redler S, Basmanav FB, Heilmann-Heimbach S, Giehl KA, Wolff H, Moebus S, Kruse R, Lutz G, Blaumeiser B, Petukhova L, Christiano AM, Betz RC, Hanneken S, B?hm M, Garcia Bartels N, Blume-Peytavi U, N?then MM. Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2. Exp Dermatol. 2017 06; 26(6):536-541. PMID: 27306922.
      Citations: 9     Fields:    Translation:HumansCells
    66. Ralser DJ, Tafazzoli A, Wititsuwannakul J, Delker S, Danda S, Thiele H, Wolf S, Pulimood SA, Lacombe D, Hillen U, Frank J, Odermatt B, Betz RC, Basmanav FB, Busch M, Altm?ller J, N?rnberg P, Wenzel J. Mutations in ?-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. J Clin Invest. 2017 Apr 03; 127(4):1485-1490. PMID: 28287404; PMCID: PMC5373890.
      Citations: 26     Fields:    Translation:Animals
    67. Hsu CK, Romano MT, Nanda A, Rashidghamat E, Lee JYW, Huang HY, Songsantiphap C, Lee JY, Al-Ajmi H, Betz RC, Simpson MA, McGrath JA, Tziotzios C. Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3. J Invest Dermatol. 2017 05; 137(5):1176-1179. PMID: 28087452.
      Citations: 9     Fields:    Translation:Humans
    68. Cau L, Tafazzoli A, Wolf S, Romano MT, Huchenq A, Kandil R, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJP, Oprisoreanu AM, Wehner M, Thiele H, Swan D, Houniet D, Weibel L, Wagner N, Bygum A, Serre G, Sprecher E, Schoch S, Farrant P, Simon M, Betz RC, ? Basmanav FB, M?chin MC, Valentin F, Wiegmann H, Garcia Bartels N, Altm?ller J, N?rnberg P, B?chner A, Grimalt R, Blume-Peytavi U, Oji V, Hamm H. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. Am J Hum Genet. 2016 Dec 01; 99(6):1292-1304. PMID: 27866708; PMCID: PMC5142115.
      Citations: 45     Fields:    Translation:HumansAnimalsCells
    69. Wolf S, Betz R, Soares DC, Stroparo MN, Lian YC, Takakura CY, Kim CA. Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome. J Inherit Metab Dis. 2017 05; 40(3):461-462. PMID: 27832414.
      Citations: 3     Fields:    Translation:Humans
    70. Kasparis C, Reid D, Wilson NJ, Okur V, Cole C, Hansen CD, Bosse K, Betz RC, Khan M, Smith FJ. Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature. Clin Exp Dermatol. 2016 Dec; 41(8):884-889. PMID: 27786367; PMCID: PMC5132090.
      Citations: 4     Fields:    Translation:Humans
    71. Adam R, Spier I, Zhao B, Kloth M, Marquez J, Hinrichsen I, Kirfel J, Horpaopan S, Uhlhaas S, Stienen D, Friedrichs N, Laner A, Holzapfel S, Peters S, Kayser K, Thiele H, Holinski-Feder E, Marra G, Kristiansen G, Brieger A, Lifton RP, Aretz S, Tafazzoli A, Altm?ller J, N?then MM, B?ttner R, M?slein G, Betz RC. Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. Am J Hum Genet. 2016 Aug 04; 99(2):337-51. PMID: 27476653; PMCID: PMC4974087.
      Citations: 95     Fields:    Translation:Humans
    72. Hotz A, Oji V, Bourrat E, Jonca N, Mazereeuw-Hautier J, Betz RC, Blume-Peytavi U, Stieler K, Morice-Picard F, Markus S, Schlipf N, Fischer J, Sch?nbuchner I. Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis. Acta Derm Venereol. 2016 May; 96(4):473-8. PMID: 26581228.
      Citations: 21     Fields:    Translation:Humans
    73. Giehl KA, Herzinger T, Wolff H, Sznajer Y, Tennstedt D, Boes P, Rapprich S, Wagner N, Betz RC, Braun-Falco M, Strom T, Ruzicka T, Eckstein GN, S?rdy M, von Braunm?hl T, Dekeuleneer V. Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability. Acta Derm Venereol. 2016 May; 96(4):468-72. PMID: 26608363.
      Citations: 2     Fields:    Translation:Humans
    74. Wali A, Liu L, Takeichi T, Jelani M, Rahman OU, Heng YK, Thng S, Lee J, Akiyama M, McGrath JA, Betz RC. Familial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR. Acta Derm Venereol. 2015 Nov; 95(8):1005-7. PMID: 25792357.
      Citations: 3     Fields:    Translation:Humans
    75. Betz RC. Nails - more than just an ectodermal appendage: the genetics behind isolated nail disorders. Br J Dermatol. 2015 Oct; 173(4):886. PMID: 26511821.
      Citations: 1     Fields:    Translation:Humans
    76. Gollasch B, Basmanav FB, Nanda A, Mahmoudi H, Thiele H, Wehner M, Wolf S, Betz RC, Fritz G, Altm?ller J, N?rnberg P, Frank J. Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes. Am J Med Genet A. 2015 Nov; 167A(11):2555-62. PMID: 26129644.
      Citations: 3     Fields:    Translation:HumansCells
    77. Habib R, Ansar M, Mattheisen M, Shahid M, Ali G, Ahmad W, Betz RC. A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31. PLoS One. 2015; 10(6):e0129811. PMID: 26115030; PMCID: PMC4483272.
      Citations: 1     Fields:    Translation:HumansCells
    78. Tekin B, Yucelten D, Zeybek CA, Kiykim E, Wehner M, Betz RC, Toker AE. Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modification. Indian J Dermatol Venereol Leprol. 2015 May-Jun; 81(3):303-5. PMID: 25784227.
      Citations:    Fields:    Translation:Humans
    79. Redler S, Pasternack SM, Wolf S, Stienen D, Wenzel J, Betz RC, N?then MM. A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism. Clin Exp Dermatol. 2015 Oct; 40(7):781-5. PMID: 25809918.
      Citations: 3     Fields:    Translation:Humans
    80. Betz RC, Petukhova L, Ripke S, Huang H, Menelaou A, Redler S, Becker T, Heilmann S, Yamany T, Duvic M, Hordinsky M, Norris D, Price VH, Mackay-Wiggan J, de Jong A, DeStefano GM, Moebus S, Wolff H, Lutz G, Kruse R, Bian L, Amos CI, Lee A, Gregersen PK, Blaumeiser B, Altshuler D, Clynes R, de Bakker PIW, Daly MJ, Christiano AM, B?hm M, Blume-Peytavi U, N?then MM. Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci. Nat Commun. 2015 Jan 22; 6:5966. PMID: 25608926; PMCID: PMC4451186.
      Citations: 107     Fields:    Translation:HumansAnimalsCells
    81. Terhal PA, Nievelstein RJ, Verver EJ, Topsakal V, van Dommelen P, Hoornaert K, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Clayton-Smith J, Kinning E, Mansour S, Elmslie F, Goodwin L, van der Hout AH, Veenstra-Knol HE, Herkert JC, Lund AM, Hennekam RC, Lees MM, Wilson LC, Male A, Hurst J, Alanay Y, Betz RC, Bongers EM, Cormier-Daire V, Dieux A, David A, Elting MW, van den Ende J, Green A, van Hagen JM, Hertel NT, Holder-Espinasse M, den Hollander N, Homfray T, Hove HD, Price S, Raas-Rothschild A, Rohrbach M, Schroeter B, Suri M, Thompson EM, Tobias ES, Toutain A, Vreeburg M, Wakeling E, Knoers NV, Coucke P, Mortier GR, M?garban? A, Anner?n G. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A. 2015 Mar; 167A(3):461-75. PMID: 25604898.
      Citations: 38     Fields:    Translation:Humans
    82. Mazzocca A, Dituri F, Filannino A, Lopane C, Betz RC, Li YY, Mukaida N, Tortorella C, Giannelli G, De Santis F, Winter P, Sabb? C. Lysophosphatidic acid receptor LPAR6 supports the tumorigenicity of hepatocellular carcinoma. Cancer Res. 2015 Feb 01; 75(3):532-43. PMID: 25589345.
      Citations: 30     Fields:    Translation:HumansAnimalsCells
    83. Redler S, Angisch M, Heilmann S, Wolf S, Barth S, Basmanav BF, Giehl KA, Mangold E, Kruse R, Blaumeiser B, Knapp M, Lutz G, Wolff H, Becker T, Betz RC, Hanneken S, Eigelshoven S, B?hm M, Garcia Bartels N, Blume-Peytavi U, N?then MM. Immunochip-based analysis: high-density genotyping of immune-related loci sheds further light on the autoimmune genetic architecture of alopecia areata. J Invest Dermatol. 2015 Mar; 135(3):919-921. PMID: 25337690.
      Citations: 3     Fields:    Translation:Humans
    84. Buket Basmanav F, Lestringant GG, Pachat D, Hoffjan S, Fischer J, Wehner M, Wolf S, Thiele H, Pulimood SA, Kruse R, Danda S, Bygum A, Betz RC, Fritz G, Altm?ller J, R?tten A, Hanneken S, Frank J. Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura. J Invest Dermatol. 2015 Feb; 135(2):615-618. PMID: 25229252.
      Citations: 5     Fields:    Translation:Humans
    85. Verma S, Pasternack SM, Ruzicka T, Betz RC, R?tten A, Hanneken S. The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family. Indian J Dermatol. 2014 Sep; 59(5):476-80. PMID: 25284854; PMCID: PMC4171917.
      Citations: 2     Fields:    
    86. Betz RC. [Alopecia and hypotrichosis in childhood: clinical features and diagnosis]. Hautarzt. 2014 Jun; 65(6):520-6. PMID: 24898506.
      Citations: 1     Fields:    Translation:Humans
    87. Betz RC, Hamm H, Kolb-M?urer A. Odd-looking hair and progressive alopecia in mother and son. JAMA Dermatol. 2014 May; 150(5):567-8. PMID: 24647624.
      Citations:    Fields:    Translation:Humans
    88. Redler S, Birch P, Drichel D, Hofmann P, Dobson K, Becker J, Giehl KA, Tazi-Ahnini R, Kruse R, Wolff H, Miesel A, Fischer T, Nuwayhid R, Garcia Bartels N, Lutz G, Becker T, Blume-Peytavi U, Messenger AG, Betz RC, B?hmer AC, B?hm M, N?then MM. The oestrogen receptor 2 (ESR2) gene in female-pattern hair loss: replication of association with rs10137185 in German patients. Br J Dermatol. 2014 Apr; 170(4):982-5. PMID: 24344880.
      Citations: 2     Fields:    Translation:Humans
    89. Kirshblum SC, Biering-Sorensen F, Betz R, Burns S, Donovan W, Graves DE, Johansen M, Jones L, Mulcahey MJ, Rodriguez GM, Schmidt-Read M, Steeves JD, Tansey K, Waring W. International Standards for Neurological Classification of Spinal Cord Injury: cases with classification challenges. J Spinal Cord Med. 2014 Mar; 37(2):120-7. PMID: 24559416; PMCID: PMC4066420.
      Citations: 35     Fields:    Translation:Humans
    90. Basmanav FB, Oprisoreanu AM, Pasternack SM, Thiele H, Wehner M, Wolf S, Fagerberg C, Bygum A, Parmentier L, El Shabrawi-Caelen L, Hafner C, Kruse R, Schoch S, Betz RC, Fritz G, Wenzel J, Gr??er L, Altm?ller J, R?tten A, N?rnberg P, Hanneken S. Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. Am J Hum Genet. 2014 Jan 02; 94(1):135-43. PMID: 24387993; PMCID: PMC3882728.
      Citations: 58     Fields:    Translation:HumansCells
    91. Kirshblum SC, Betz R, Burns S, Donovan W, Graves DE, Johansen M, Jones L, Mulcahey MJ, Rodriguez GM, Schmidt-Read M, Steeves JD, Tansey K, Waring W, Biering-S?rensen F. International standards for neurological classification of spinal cord injury: cases with classification challenges. Top Spinal Cord Inj Rehabil. 2014; 20(2):81-9. PMID: 25477729; PMCID: PMC4252166.
      Citations: 12     Fields:    
    92. Nuwaihyd R, Redler S, Heilmann S, Drichel D, Wolf S, Birch P, Dobson K, Lutz G, Giehl KA, Kruse R, Tazi-Ahnini R, Hanneken S, Miesel A, Fischer T, Wolff H, Becker T, Garcia-Bartels N, Blume-Peytavi U, Messenger AG, Betz RC, B?hm M, N?then MM. Investigation of four novel male androgenetic alopecia susceptibility loci: no association with female pattern hair loss. Arch Dermatol Res. 2014 May; 306(4):413-8. PMID: 24352509.
      Citations: 6     Fields:    Translation:HumansCells
    93. Nanda A, Pasternack SM, Mahmoudi H, Ishorst N, Grimalt R, Betz RC. Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene. Pediatr Dermatol. 2014 Jan-Feb; 31(1):83-7. PMID: 24015686.
      Citations: 4     Fields:    Translation:Humans
    94. Ahmad S, Mahmoudi H, Naeem M, Betz RC. Autosomal recessive isolated familial acanthosis nigricans in a Pakistani family due to a homozygous mutation in the insulin receptor gene. Br J Dermatol. 2013 Aug; 169(2):476-8. PMID: 23448340.
      Citations: 1     Fields:    Translation:Humans
    95. Redler S, Dobson K, Drichel D, Heilmann S, Wolf S, Brockschmidt FF, Tazi-Ahnini R, Birch P, Giehl KA, Kruse R, Lutz G, Garcia Bartels N, Hanneken S, Wolff H, Becker T, Blume-Peytavi U, Messenger AG, Betz RC, Te?mann P, B?hm M, N?then MM. Investigation of six novel susceptibility loci for male androgenetic alopecia in women with female pattern hair loss. J Dermatol Sci. 2013 Nov; 72(2):186-8. PMID: 23928227.
      Citations: 6     Fields:    Translation:HumansCells
    96. Heilmann S, Kiefer AK, Fricker N, Drichel D, Hillmer AM, Herold C, Tung JY, Eriksson N, Redler S, Betz RC, Li R, Nyholt DR, Song K, Vermeulen SH, Kanoni S, Dedoussis G, Martin NG, Kiemeney LA, Mooser V, Stefansson K, Richards JB, Becker T, Brockschmidt FF, Hinds DA, K?rason A, N?then MM. Androgenetic alopecia: identification of four genetic risk loci and evidence for the contribution of WNT signaling to its etiology. J Invest Dermatol. 2013 Jun; 133(6):1489-96. PMID: 23358095.
      Citations: 29     Fields:    Translation:HumansCells
    97. Pasternack SM, Refke M, Paknia E, Hennies HC, Franz T, Fryer A, van Steensel M, Sweeney E, Just M, Grimm C, Kruse R, Fischer U, Betz RC, Sch?fer N, Ferr?ndiz C, N?then MM. Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. Am J Hum Genet. 2013 Jan 10; 92(1):81-7. PMID: 23246290; PMCID: PMC3542472.
      Citations: 15     Fields:    Translation:HumansCells
    98. Antal AS, Kulichova D, Redler S, Betz RC, Ruzicka T. Steatocystoma multiplex: keratin 17 - the key player? Br J Dermatol. 2012 Dec; 167(6):1395-7. PMID: 22639854.
      Citations: 3     Fields:    Translation:Humans
    99. Redler S, Albert F, Brockschmidt FF, Herold C, Hanneken S, Eigelshoven S, Giehl KA, Kruse R, Lutz G, Wolff H, Blaumeiser B, Becker T, Betz RC, B?hm M, N?then MM. Investigation of selected cytokine genes suggests that IL2RA and the TNF/LTA locus are risk factors for severe alopecia areata. Br J Dermatol. 2012 Dec; 167(6):1360-5. PMID: 22897480.
      Citations: 17     Fields:    Translation:Humans
    100. Mahmoudi H, Redler S, Birch P, Drichel D, Dobson K, Tazi-Ahnini R, Giehl KA, Kruse R, Lutz G, Hanneken S, Wolff H, Blume-Peytavi U, Becker T, Messenger AG, Betz RC, Te?mann P, N?then MM, B?hm M. Selected variants of the melanocortin 4 receptor gene (MC4R) do not confer susceptibility to female pattern hair loss. Arch Dermatol Res. 2013 Apr; 305(3):249-53. PMID: 23124548.
      Citations: 3     Fields:    Translation:Humans
    101. Lin Z, Chen Q, Shi L, Lee M, Giehl KA, Tang Z, Wang H, Zhang J, Yin J, Wu L, Xiao R, Liu X, Dai L, Zhu X, Li R, Betz RC, Zhang X, Yang Y. Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia. Am J Hum Genet. 2012 Nov 02; 91(5):906-11. PMID: 23063621; PMCID: PMC3487122.
      Citations: 20     Fields:    Translation:HumansAnimals
    102. Giehl KA, Eckstein GN, Pasternack SM, Praetzel-Wunder S, Ruzicka T, Lichtner P, Seidl K, Rogers M, Graf E, Langbein L, Braun-Falco M, Betz RC, Strom TM. Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. Am J Hum Genet. 2012 Oct 05; 91(4):754-9. PMID: 23000146; PMCID: PMC3484507.
      Citations: 20     Fields:    Translation:HumansCells
    103. Refke M, Tasic V, Draaken M, Conrad C, Born M, Betz RC, Reutter H, Ludwig M, Pasternack SM, B?ckenhauer D. A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL. Klin Padiatr. 2013 Jan; 225(1):29-33. PMID: 22915452.
      Citations: 8     Fields:    Translation:HumansCells
    104. Begemann M, Spengler S, Gogiel M, Grasshoff U, Bonin M, Betz RC, Dufke A, Spier I, Eggermann T. Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature. J Med Genet. 2012 Sep; 49(9):547-53. PMID: 22844132; PMCID: PMC3439641.
      Citations: 33     Fields:    Translation:HumansCells
    105. Terhal PA, van Dommelen P, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Kinning E, Mansour S, Hennekam RC, van der Hout AH, Cormier-Daire V, Lund AM, Goodwin L, Lees M, Betz RC, Tobias ES, Coucke P, Mortier GR, M?garban? A. Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. Am J Med Genet C Semin Med Genet. 2012 Aug 15; 160C(3):205-16. PMID: 22791362.
      Citations: 15     Fields:    Translation:HumansCells
    106. Schmieder A, Pasternack SM, Krahl D, Betz RC, Leverkus M. Galli-Galli disease is an acantholytic variant of Dowling-Degos disease: additional genetic evidence in a German family. J Am Acad Dermatol. 2012 Jun; 66(6):e250-1. PMID: 22583733.
      Citations: 7     Fields:    Translation:Humans
    107. Mahmoudi H, Tug E, Parlak AH, Atasoy HI, Ludwig M, Polat M, Pasternack SM, Betz RC. Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair. Exp Dermatol. 2012 Jun; 21(6):469-71. PMID: 22621192.
      Citations: 1     Fields:    Translation:HumansCells
    108. Redler S, Brockschmidt FF, Tazi-Ahnini R, Drichel D, Birch MP, Dobson K, Giehl KA, Herms S, Refke M, Kluck N, Kruse R, Lutz G, Wolff H, Becker T, Messenger AG, Betz RC, B?hm M, N?then MM. Investigation of the male pattern baldness major genetic susceptibility loci AR/EDA2R and 20p11 in female pattern hair loss. Br J Dermatol. 2012 Jun; 166(6):1314-8. PMID: 22309448.
      Citations: 11     Fields:    Translation:HumansCells
    109. Redler S, Tazi-Ahnini R, Drichel D, Birch MP, Brockschmidt FF, Dobson K, Giehl KA, Refke M, Kluck N, Kruse R, Lutz G, Wolff H, Becker T, Betz RC, Messenger A, B?hm M, N?then MM. Selected variants of the steroid-5-alpha-reductase isoforms SRD5A1 and SRD5A2 and the sex steroid hormone receptors ESR1, ESR2 and PGR: no association with female pattern hair loss identified. Exp Dermatol. 2012 May; 21(5):390-3. PMID: 22509838.
      Citations: 5     Fields:    Translation:Humans
    110. Jagielska D, Redler S, Brockschmidt FF, Herold C, Pasternack SM, Garcia Bartels N, Hanneken S, Eigelshoven S, Refke M, Barth S, Giehl KA, Kruse R, Lutz G, Wolff H, Blaumeiser B, Blume-Peytavi U, Becker T, Betz RC, B?hm M, N?then MM. Follow-up study of the first genome-wide association scan in alopecia areata: IL13 and KIAA0350 as susceptibility loci supported with genome-wide significance. J Invest Dermatol. 2012 Sep; 132(9):2192-7. PMID: 22534877.
      Citations: 45     Fields:    Translation:Humans
    111. Naz G, Pasternack SM, Perrin C, Mattheisen M, Refke M, Khan S, Gul A, Simons M, Ahmad W, Betz RC. FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia. Br J Dermatol. 2012 May; 166(5):1088-94. PMID: 22211385.
      Citations: 15     Fields:    Translation:HumansCells
    112. Betz RC, Cabral RM, Christiano AM, Sprecher E. Unveiling the roots of monogenic genodermatoses: genotrichoses as a paradigm. J Invest Dermatol. 2012 Mar; 132(3 Pt 2):906-14. PMID: 22170492.
      Citations: 11     Fields:    Translation:Humans
    113. Minnerop M, Weber B, Schoene-Bake JC, Roeske S, Mirbach S, Anspach C, Schneider-Gold C, Betz RC, Helmstaedter C, Tittgemeyer M, Klockgether T, Kornblum C. The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease. Brain. 2011 Dec; 134(Pt 12):3530-46. PMID: 22131273; PMCID: PMC3235566.
      Citations: 97     Fields:    Translation:HumansCells
    114. Eigelshoven S, Braun-Falco M, Pasternack SM, Ruzicka T, Betz RC, Kruse R, Hanneken S, R?tten A, N?then MM. [Galli-Galli disease. Clinical and histopathological investigation using a case series of 18 patients]. Hautarzt. 2011 Nov; 62(11):842-51. PMID: 21971768.
      Citations: 8     Fields:    Translation:Humans
    115. Forstbauer LM, Brockschmidt FF, Moskvina V, Herold C, Redler S, Herzog A, Hillmer AM, Meesters C, Heilmann S, Albert F, Alblas M, Hanneken S, Eigelshoven S, Giehl KA, Jagielska D, Blume-Peytavi U, Garcia Bartels N, Kuhn J, Hennies HC, Goebeler M, Jung A, Peitsch WK, Moll I, Kruse R, Lutz G, Wolff H, Blaumeiser B, Kirov G, Becker T, Betz RC, Kort?m AK, B?hm M, N?then MM. Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata. Eur J Hum Genet. 2012 Mar; 20(3):326-32. PMID: 22027810; PMCID: PMC3283178.
      Citations: 24     Fields:    Translation:Humans
    116. Refke M, Pasternack SM, Fiebig B, Wenzel S, Ishorst N, Ludwig M, Seyger MM, Hamel BC, Betz RC, N?then MM. Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay. Br J Dermatol. 2011 Nov; 165(5):1127-32. PMID: 21718278.
      Citations: 2     Fields:    Translation:HumansCells
    117. Redler S, Birch MP, Drichel D, Dobson K, Brockschmidt FF, Tazi-Ahnini R, Giehl KA, Kluck N, Kruse R, Lutz G, Wolff H, Becker T, Messenger AG, Betz RC, N?then MM. Investigation of variants of the aromatase gene (CYP19A1) in female pattern hair loss. Br J Dermatol. 2011 Sep; 165(3):703-5. PMID: 21668432.
      Citations: 5     Fields:    Translation:Humans
    118. Voth H, Landsberg J, Reinhard G, Refke M, Betz RC, Bieber T, Wenzel J. Efficacy of ablative laser treatment in Galli-Galli disease. Arch Dermatol. 2011 Mar; 147(3):317-20. PMID: 21422339.
      Citations: 3     Fields:    Translation:Humans
    119. John KK, Brockschmidt FF, Redler S, Herold C, Hanneken S, Eigelshoven S, Giehl KA, De Weert J, Lutz G, Kruse R, Wolff H, Blaumeiser B, Becker T, Betz RC, B?hm M, N?then MM. Genetic variants in CTLA4 are strongly associated with alopecia areata. J Invest Dermatol. 2011 May; 131(5):1169-72. PMID: 21346773.
      Citations: 19     Fields:    Translation:Humans
    120. Lohan S, Brancati F, Koll R, Brehm A, Seemann P, Dathe K, Stricker S, Hecht J, Bosse K, Betz RC, Garaci FG, Dallapiccola B, Jain M, Muenke M, Ng VC, Chan W, Chan D, Mundlos S, Klopocki E. Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Am J Hum Genet. 2011 Jan 07; 88(1):70-5. PMID: 21167467; PMCID: PMC3014361.
      Citations: 49     Fields:    Translation:HumansAnimalsCells
    121. Culic V, Betz RC, Refke M, Fumic K, Pavelic J. Tyrosinemia type II (Richner-Hanhart syndrome): a new mutation in the TAT gene. Eur J Med Genet. 2011 May-Jun; 54(3):205-8. PMID: 21145993.
      Citations: 3     Fields:    Translation:HumansCells
    122. Mansur AT, Elcioglu NH, Redler S, Serdar ZA, Cetinel S, Betz RC, Akarsu NA. Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation. Am J Med Genet A. 2010 Oct; 152A(10):2628-33. PMID: 20814945.
      Citations: 2     Fields:    Translation:Humans
    123. Redler S, Kruse R, Eigelshoven S, Hanneken S, Refke M, Wen Y, Zhang X, Cichon S, Betz RC, N?then MM. Marie Unna hereditary hypotrichosis: identification of a U2HR mutation in the family from the original 1925 report. J Am Acad Dermatol. 2011 Apr; 64(4):e45-50. PMID: 20659777.
      Citations: 1     Fields:    Translation:Humans
    124. Bousset L, Clemmensen O, Sourigues Y, Bygum A, Coudane F, Hsu CY, Betz RC, Melki R, Simon M, Serre G, Caubet C, Chavanas S. A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin. FASEB J. 2010 Sep; 24(9):3416-26. PMID: 20448140.
      Citations: 5     Fields:    Translation:HumansCells
    125. Pasternack SM, Eigelshoven S, El Shabrawi-Caelen L, Wenzel J, Braun-Falco M, Ruzicka T, Kruse R, Betz RC, Hanneken S, R?tten A, N?then MM. Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease. Br J Dermatol. 2010 Jul; 163(1):197-200. PMID: 20222933.
      Citations: 10     Fields:    Translation:Humans
    126. Mauerer A, Betz RC, Pasternack SM, Landthaler M, Hafner C. Generalized solar lentigines in a patient with a history of radon exposure. Dermatology. 2010; 221(3):206-10. PMID: 20664185.
      Citations: 4     Fields:    Translation:HumansPHPublic Health
    127. Redler S, Brockschmidt FF, Forstbauer L, Giehl KA, Herold C, Eigelshoven S, Hanneken S, De Weert J, Lutz G, Wolff H, Kruse R, Blaumeiser B, Becker T, Betz RC, B?hm M, N?then MM. The TRAF1/C5 locus confers risk for familial and severe alopecia areata. Br J Dermatol. 2010 Apr; 162(4):866-9. PMID: 20030635.
      Citations: 9     Fields:    Translation:Humans
    128. Redler S, Polat M, Dogruer D, Pasternack SM, Betz RC, D?zenli S, M?ller M. Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis. Clin Exp Dermatol. 2009 Dec; 34(8):e953-6. PMID: 20055871.
      Citations: 3     Fields:    Translation:Humans
    129. Pasternack SM, Oji V, Traupe H, Sprecher E, Janecke AR, Betz RC, von K?gelgen I, M?ller M, N?then MM. In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth. J Invest Dermatol. 2009 Dec; 129(12):2772-6. PMID: 19536142.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    130. Pasternack SM, Murugusundram S, Eigelshoven S, Kruse R, Lehmann P, Betz RC, M?ller M. Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair. Arch Dermatol Res. 2009 Sep; 301(8):621-4. PMID: 19529952.
      Citations: 4     Fields:    Translation:HumansCells
    131. Fischer G, Happle R, Betz RC, Bornholdt D, Neidel U, Redler S, Romero-Gomez J, Weirich C, Grzeschik KH, Oeffner F, K?nig A, Boente Mdel C, Salhi A, Vera-Casa?o A. IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. Am J Hum Genet. 2009 Apr; 84(4):459-67. PMID: 19361614; PMCID: PMC2667992.
      Citations: 43     Fields:    Translation:HumansAnimalsCells
    132. Wen Y, Liu Y, Xu Y, Zhao Y, Hua R, Wang K, Sun M, Li Y, Yang S, Zhang XJ, Kruse R, Cichon S, Betz RC, van Steensel MA, van Geel M, Steijlen PM, Hohl D, Huber M, Dunnill GS, Kennedy C, Messenger A, Munro CS, Terrinoni A, Hovnanian A, Bodemer C, de Prost Y, Paller AS, Irvine AD, Sinclair R, Green J, Shang D, Liu Q, Luo Y, Jiang L, Chen HD, Lo WH, McLean WH, He CD, Zhang X, N?then MM. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet. 2009 Feb; 41(2):228-33. PMID: 19122663.
      Citations: 56     Fields:    Translation:HumansCells
    133. Pasternack SM, Betz RC, Brandrup F, Gade EF, Clemmensen O, Lund AM, Christensen E, Bygum A. Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II. Br J Dermatol. 2009 Mar; 160(3):704-6. PMID: 18945316.
      Citations: 5     Fields:    Translation:Humans
    134. Hillmer AM, Brockschmidt FF, Hanneken S, Eigelshoven S, Steffens M, Flaquer A, Herms S, Becker T, Nyholt DR, Zhao ZZ, Montgomery GW, Martin NG, Alblas MA, Moebus S, Erbel R, Reinartz R, Betz RC, Cichon S, Propping P, Baur MP, Wienker TF, Kruse R, Kort?m AK, M?hleisen TW, J?ckel KH, Br?cker-Preuss M, N?then MM. Susceptibility variants for male-pattern baldness on chromosome 20p11. Nat Genet. 2008 Nov; 40(11):1279-81. PMID: 18849994.
      Citations: 32     Fields:    Translation:HumansCells
    135. Nahum S, Pasternack SM, Pforr J, Indelman M, Wollnik B, Bergman R, Khamaysi Z, Betz RC, Sprecher E, N?then MM, K?nig A. A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. Arch Dermatol Res. 2009 Jun; 301(5):391-3. PMID: 18820939.
      Citations: 4     Fields:    Translation:HumansCells
    136. Jain M, Wallis D, Robin NH, De Vrieze FW, Hardy JA, Ghadami M, Bosse K, Betz RC, Arcos-Burgos M, Muenke M, N?then MM. Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type? Am J Med Genet A. 2008 Sep 01; 146A(17):2308-11. PMID: 18680190; PMCID: PMC2774842.
      Citations: 2     Fields:    Translation:HumansCells
    137. Betz RC, Pasternack SM, Eigelshoven S, Ruzicka T, Kruse R, Laitenberger G, Mayatepek E, Meissner T. Richner-Hanhart syndrome detected by expanded newborn screening. Pediatr Dermatol. 2008 May-Jun; 25(3):378-80. PMID: 18577048.
      Citations: 8     Fields:    Translation:HumansPHPublic Health
    138. Pasternack SM, Al Aboud K, Lee YA, Voss K, Hillmer AM, Molderings GJ, Franz T, Ramirez A, Betz RC, von K?gelgen I, R?schendorf F, N?rnberg P, N?then MM. G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nat Genet. 2008 Mar; 40(3):329-34. PMID: 18297070.
      Citations: 146     Fields:    Translation:HumansAnimalsCells
    139. Hillmer AM, Flaquer A, Hanneken S, Eigelshoven S, Brockschmidt FF, Golla A, Metzen C, Thiele H, Kolberg S, Reinartz R, Betz RC, Ruzicka T, Hennies HC, Kruse R, Kort?m AK, N?then MM. Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26. Am J Hum Genet. 2008 Mar; 82(3):737-43. PMID: 18304493; PMCID: PMC2427264.
      Citations: 16     Fields:    Translation:HumansCells
    140. Betz RC, Flaquer A, Redler S, Eigelshoven S, Hanneken S, Hillmer A, Lambert J, De Weert J, Kruse R, Lutz G, Blaumeiser B, K?nig K, Kort?m AK, T?ting T, N?then MM. The R620W polymorphism in PTPN22 confers general susceptibility for the development of alopecia areata. Br J Dermatol. 2008 Feb; 158(2):389-91. PMID: 18028494.
      Citations: 19     Fields:    Translation:Humans
    141. Betz RC, Pforr J, Flaquer A, Redler S, Hanneken S, Eigelshoven S, Lambert J, De Weert J, Hillmer AM, Schmael C, Wienker TF, Kruse R, Lutz G, Blaumeiser B, Kort?m AK, T?ting T, N?then MM. Loss-of-function mutations in the filaggrin gene and alopecia areata: strong risk factor for a severe course of disease in patients comorbid for atopic disease. J Invest Dermatol. 2007 Nov; 127(11):2539-43. PMID: 17581619.
      Citations: 17     Fields:    Translation:Humans
    142. Betz RC, Hanneken S, Eigelshoven S, Kruse R, Magin TM, Planko L, B?hse K, H?hfeld J, N?then MM. Identification of a keratin-associated protein with a putative role in vesicle transport. Eur J Cell Biol. 2007 Dec; 86(11-12):827-39. PMID: 17397964.
      Citations: 13     Fields:    Translation:HumansCells
    143. Betz RC, Indelman M, Pforr J, Schreiner F, Bauer R, Bergman R, Lentze MJ, Cichon S, Sprecher E, N?then MM. Identification of mutations in the human hairless gene in two new families with congenital atrichia. Arch Dermatol Res. 2007 Jun; 299(3):157-61. PMID: 17372750.
      Citations: 4     Fields:    Translation:Humans
    144. Blaumeiser B, Becker T, Freudenberg-Hua Y, Hanneken S, Eigelshoven S, Schmael C, Lambert J, De Weert J, Kruse R, Betz RC, Sch?fer N, N?then MM. Investigation of the functional variant c.-169T > C of the Fc receptor-like 3 (FCRL3) gene in alopecia areata. Int J Immunogenet. 2006 Dec; 33(6):393-5. PMID: 17117947.
      Citations: 2     Fields:    Translation:Humans
    145. Reutter H, Becker T, Ludwig M, Detlefsen B, Beaudoin S, Fisch M, Ebert AK, Boemers TM, Betz RC, Sch?fer N, R?sch W, N?then MM. Family-based association study of the MTHFR polymorphism C677T in the bladder-exstrophy-epispadias-complex. Am J Med Genet A. 2006 Nov 15; 140(22):2506-9. PMID: 17041930.
      Citations: 3     Fields:    Translation:HumansCells
    146. Pforr J, Blaumeiser B, Becker T, Freudenberg-Hua Y, Hanneken S, Eigelshoven S, Cuyt I, De Weert J, Lambert J, Kruse R, Betz RC, N?then MM. Investigation of the p.Ser278Arg polymorphism of the autoimmune regulator (AIRE) gene in alopecia areata. Tissue Antigens. 2006 Jul; 68(1):58-61. PMID: 16774540.
      Citations: 9     Fields:    Translation:Humans
    147. Blaumeiser B, Betz RC, Lambert J, Seymons K, Eigelshoven S, Hanneken S, Kruse R, Nagy M, Entz P, N?rnberg P, N?then MM. Investigation of the HLA-DRB1 locus in alopecia areata. Eur J Dermatol. 2006 Jul-Aug; 16(4):363-7. PMID: 16935791.
      Citations: 8     Fields:    Translation:Humans
    148. Betz RC, Ludwig M, Boemers TM, Reutter H. MTHFR 677 TT genotype in a mother and her child with Down syndrome, atrioventricular canal and exstrophy of the bladder: implications of a mutual genetic risk factor? Eur J Pediatr. 2006 Aug; 165(8):566-8. PMID: 16602006.
      Citations: 4     Fields:    Translation:Humans
    149. Blaumeiser B, van der Goot I, Fimmers R, Hanneken S, Ritzmann S, Seymons K, Betz RC, Ruzicka T, Wienker TF, De Weert J, Lambert J, Kruse R, N?then MM. Familial aggregation of alopecia areata. J Am Acad Dermatol. 2006 Apr; 54(4):627-32. PMID: 16546583.
      Citations: 20     Fields:    Translation:Humans
    150. Betz RC, Planko L, Eigelshoven S, Hanneken S, Pasternack SM, Bussow H, Van Den Bogaert K, Wenzel J, Braun-Falco M, Rutten A, Rogers MA, Ruzicka T, Magin TM, Kruse R, N?then MM. Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. Am J Hum Genet. 2006 Mar; 78(3):510-9. PMID: 16465624; PMCID: PMC1380294.
      Citations: 57     Fields:    Translation:HumansCells
    151. Pforr J, Kruse R, Figuera LE, Betz RC, D?valos NO, Garc?a-Vargas A, D?valos IP, Picos-C?rdenas VJ, Garc?a-Cruz D, N?then MM. A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp. Br J Dermatol. 2005 Dec; 153(6):1216-9. PMID: 16307662.
      Citations: 5     Fields:    Translation:HumansCells
    152. Maintz L, Betz RC, Allam JP, Jaksche A, Friedrichs N, Bieber T, Novak N, Wenzel J. Keratitis-ichthyosis-deafness syndrome in association with follicular occlusion triad. Eur J Dermatol. 2005 Sep-Oct; 15(5):347-52. PMID: 16172043.
      Citations: 15     Fields:    Translation:Humans
    153. Hillmer AM, Hanneken S, Ritzmann S, Becker T, Freudenberg J, Brockschmidt FF, Flaquer A, Freudenberg-Hua Y, Jamra RA, Metzen C, Heyn U, Schweiger N, Betz RC, Blaumeiser B, Hampe J, Schreiber S, Schulze TG, Hennies HC, Schumacher J, Propping P, Ruzicka T, Cichon S, Wienker TF, Kruse R, Nothen MM. Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia. Am J Hum Genet. 2005 Jul; 77(1):140-8. PMID: 15902657; PMCID: PMC1226186.
      Citations: 51     Fields:    Translation:HumansCells
    154. Bygum A, Betz RC, Kragballe K, Steiniche T, Peeters N, Wuyts W, N?then MM. KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation. Acta Derm Venereol. 2005; 85(2):152-5. PMID: 15823911.
      Citations: 1     Fields:    Translation:Humans
    155. Everman DB, Betz RC, Mosca M, Schwartz CE, Zaphiropoulos PG, ?sterlund T, N?then MM, Toftg?rd R. The FU gene and its possible protein isoforms. BMC Genomics. 2004 Jul 22; 5(1):49. PMID: 15268766; PMCID: PMC512281.
      Citations: 6     Fields:    Translation:HumansCells
    156. Levy-Nissenbaum E, Betz RC, Frydman M, Simon M, Lahat H, Bakhan T, Goldman B, Bygum A, Pierick M, Hillmer AM, Jonca N, Toribio J, Kruse R, Dewald G, Cichon S, Kubisch C, Guerrin M, Serre G, Pras E, N?then MM. Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat Genet. 2003 Jun; 34(2):151-3. PMID: 12754508.
      Citations: 34     Fields:    Translation:HumansCells
    157. Kubisch C, Schoser BG, Betz RC, Goebel HH, Zahn S, Ehrbrecht A, Aasly J, Schroers A, Popovic N, Malin JP, Fricke B, Meinck HM, Torbergsen T, Engels H, Voss B, Vorgerd M, von D?ring M, Lochm?ller H, Schr?der JM, Br?ning T. Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. Ann Neurol. 2003 Apr; 53(4):512-20. PMID: 12666119.
      Citations: 15     Fields:    Translation:HumansCells
    158. Hillmer AM, Kruse R, Betz RC, Schumacher J, Heyn U, Propping P, Cichon S, N?then MM. Variant 1859G-->A (Arg620Gln) of the "hairless" gene: absence of association with papular atrichia or androgenic alopecia. Am J Hum Genet. 2001 Jul; 69(1):235-7. PMID: 11410842; PMCID: PMC1226040.
      Citations: 2     Fields:    Translation:HumansCells
    159. Schoser BG, Kasper D, Ricker K, Stein V, Torbergsen T, Lee YA, Wienker TF, Malin JP, Propping P, Reis A, Mortier W, Jentsch TJ, Vorgerd M, Kubisch C, Betz RC, Ram?rez A, N?then MM. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat Genet. 2001 Jul; 28(3):218-9. PMID: 11431690.
      Citations: 37     Fields:    Translation:Humans
    160. Hildebrandt F, Rensing C, Betz R, Sommer U, Birnbaum S, Imm A, Omran H, Leipoldt M, Otto E, Arbeitsgemeinschaft f?r Paediatrische Nephrologie (APN) Study Group. Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis. Kidney Int. 2001 Feb; 59(2):434-45. PMID: 11168925.
      Citations: 11     Fields:    Translation:HumansCells
    161. Betz R, Larsson C, J?rgensen PM, Gr?slund S, St?hl S, H??g C. Characterisation of the human APC1, the largest subunit of the anaphase-promoting complex. Gene. 2001 Jan 10; 262(1-2):51-9. PMID: 11179667.
      Citations: 7     Fields:    Translation:HumansCells
    162. Otto E, Betz R, Rensing C, Kuntzen T, Vetsi T, Imm A, Hildebrandt F, Sch?tzle S. A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints. Hum Mutat. 2000 Sep; 16(3):211-23. PMID: 10980528.
      Citations: 7     Fields:    Translation:HumansCells
    163. Bosse K, Betz RC, Lee YA, Wienker TF, Reis A, Kleen H, Propping P, Cichon S, N?then MM. Localization of a gene for syndactyly type 1 to chromosome 2q34-q36. Am J Hum Genet. 2000 Aug; 67(2):492-7. PMID: 10877983; PMCID: PMC1287194.
      Citations: 15     Fields:    Translation:HumansCells
    164. Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, Hildebrandt F. Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. J Pediatr. 2000 Jun; 136(6):828-31. PMID: 10839884.
      Citations: 22     Fields:    Translation:HumansCells
    165. Betz RC, Lee YA, Bygum A, Brandrup F, Bernal AI, Toribio J, Alvarez JI, Kukuk GM, Ibsen HH, Rasmussen HB, Wienker TF, Reis A, Propping P, Kruse R, Cichon S, N?then MM. A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3. Am J Hum Genet. 2000 Jun; 66(6):1979-83. PMID: 10793007; PMCID: PMC1378055.
      Citations: 12     Fields:    Translation:HumansCells
    166. Betz R, Lagercrantz J, Kedra D, Dumanski JP, Nordenskj?ld A. Genomic structure, 5' flanking sequences, and precise localization in 1P31.1 of the human prostaglandin F receptor gene. Biochem Biophys Res Commun. 1999 Jan 19; 254(2):413-6. PMID: 9918852.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    167. Betz R, Leibiger B, Farnebo F, Lagercrantz S, Piehl F, Leibiger I, Larsson C. Mapping of the human Ca2+ channel beta 4 subunit to 2q22-23 and its expression in developing mouse. Mamm Genome. 1998 Apr; 9(4):310-1. PMID: 9530629.
      Citations:    Fields:    Translation:HumansAnimalsCells
    168. Ernstsson S, Betz R, Lagercrantz S, Larsson C, Ericksson S, Cederberg A, Carlsson P, Enerb?ck S. Cloning and characterization of freac-9 (FKHL17), a novel kidney-expressed human forkhead gene that maps to chromosome 1p32-p34. Genomics. 1997 Nov 15; 46(1):78-85. PMID: 9403061.
      Citations: 3     Fields:    Translation:HumansCells
    169. Cederberg A, Betz R, Lagercrantz S, Larsson C, Hulander M, Carlsson P, Enerb?ck S. Chromosome localization, sequence analysis, and expression pattern identify FKHL 18 as a novel human forkhead gene. Genomics. 1997 Sep 15; 44(3):344-6. PMID: 9325056.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    170. Sanders R, Islam KB, Betz R, Larsson C, Smith CI. A human homologue of the rat rab geranylgeranyl transferase beta subunit on chromosome 1p22-p31. Genomics. 1996 Aug 01; 35(3):633-5. PMID: 8812509.
      Citations:    Fields:    Translation:HumansAnimalsCells
    171. Teh BT, Silburn P, Lindblad K, Betz R, Boyle R, Schalling M, Larsson C. Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13. Am J Hum Genet. 1995 Jun; 56(6):1443-9. PMID: 7762567; PMCID: PMC1801098.
      Citations: 11     Fields:    Translation:HumansCells
    172. Fricke B, Betz R, Friebe S. A periplasmic insulin-cleaving proteinase (ICP) from Acinetobacter calcoaceticus sharing properties with protease III from Escherichia coli and IDE from eucaryotes. J Basic Microbiol. 1995; 35(1):21-31. PMID: 7738784.
      Citations: 3     Fields:    Translation:AnimalsCells
    173. Betz R, Duntze W, Nientiedt M. Identification of a nuclear pheromone-sensitive protein kinase not identical to p34CDC28 in Saccharomyces cerevisiae. FEMS Microbiol Lett. 1993 Oct 01; 113(1):119-24. PMID: 8243976.
      Citations:    Fields:    Translation:AnimalsCells
    174. Betz R, Duntze W, Steden M. Isolation and characterization of Saccharomyces cerevisiae mutants supersensitive to G1 arrest by the mating hormone a-factor. Mol Gen Genet. 1989 Nov; 219(3):439-44. PMID: 2695825.
      Citations: 7     Fields:    Translation:Animals
    175. Betz R, Schlicker E, G?thert M. Investigation into the age-dependence of release of serotonin and noradrenaline in the rat brain cortex and of autoreceptor-mediated modulation of release. Neuropharmacology. 1989 Aug; 28(8):811-5. PMID: 2571104.
      Citations: 6     Fields:    Translation:Animals
    176. Schlicker E, Molderings G, Betz R, G?thert M. Antagonistic properties of RU 24969, a preferential 5-HT1 receptor agonist, at presynaptic alpha 2-adrenoceptors of central and peripheral neurones. Pharmacol Toxicol. 1988 Oct; 63(4):281-5. PMID: 2904143.
      Citations: 2     Fields:    Translation:Animals
    177. Schlicker E, Betz R, Fink K, G?thert M. Identification of presynaptic 5-HT1 autoreceptors in pig brain cortex synaptosomes and slices. Naunyn Schmiedebergs Arch Pharmacol. 1988 Jul; 338(1):14-8. PMID: 3237252.
      Citations: 5     Fields:    Translation:AnimalsCells
    178. Betz R, Schlicker E, G?thert M. Histamine H3 receptor-mediated inhibition of serotonin release in the rat brain cortex. Naunyn Schmiedebergs Arch Pharmacol. 1988 May; 337(5):588-90. PMID: 3412497.
      Citations: 53     Fields:    Translation:Animals
    179. Betz R, Fiechtner H, Seipel L, Hoffmeister HM. Myocardial and circulatory effects of inosine. Cardiovasc Res. 1987 Jan; 21(1):65-71. PMID: 3664538.
      Citations: 6     Fields:    Translation:Animals

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