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Wieczorek, Dagmar
One or more keywords matched the following items that are connected to Wieczorek, Dagmar
Item TypeName
Academic Article De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Academic Article Infectious and immunologic phenotype of MECP2 duplication syndrome.
Academic Article A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation.
Academic Article Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.
Academic Article De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
Academic Article Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
Academic Article Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID.
Academic Article The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
Academic Article Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Academic Article Prenatally detected trisomy 4 and 6 mosaicism--cytogenetic results and clinical phenotype.
Academic Article Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
Academic Article Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
Academic Article Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
Academic Article Defining the phenotypical spectrum associated with variants in TUBB2A.
Academic Article Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Academic Article Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Academic Article The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
Academic Article Rescue of high expression beta-tropomyosin transgenic mice by 5-propyl-2-thiouracil. Regulating the alpha-myosin heavy chain promoter.
Academic Article Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.
Academic Article Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
Academic Article Distal monosomy 18p/distal trisomy 20p--a recognizable facial phenotype?
Academic Article No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome.
Academic Article Two brothers with Burn-McKeown syndrome.
Academic Article Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR.
Academic Article Oculo-oto-facial dysplasia (OOFD) versus Burn-McKeown syndrome.
Academic Article Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation.
Academic Article Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
Academic Article Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
Academic Article Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Academic Article Cohen syndrome diagnosis using whole genome arrays.
Academic Article Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
Academic Article Genetic determination of human facial morphology: links between cleft-lips and normal variation.
Academic Article Automated syndrome detection in a set of clinical facial photographs.
Academic Article Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.
Academic Article Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.
Academic Article Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
Academic Article Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene.
Academic Article Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
Academic Article Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.
Academic Article The genetic basis of DOORS syndrome: an exome-sequencing study.
Academic Article Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
Academic Article Further delineation of the KAT6B molecular and phenotypic spectrum.
Academic Article Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
Academic Article WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
Academic Article Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?
Academic Article Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.
Academic Article Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome.
Academic Article Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
Academic Article Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
Academic Article Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.
Academic Article Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Academic Article Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.
Academic Article Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Academic Article Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.
Academic Article De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.
Academic Article De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Academic Article Isolated PREPL deficiency associated with congenital myasthenic syndrome-22.
Academic Article Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.
Academic Article Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement.
Academic Article SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal?phenotypes.
Academic Article QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum.
Academic Article A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
Academic Article Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant.
Academic Article A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.
Academic Article Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Academic Article Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
Academic Article Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele.
Academic Article A patient with interstitial deletion of the short arm of chromosome 3 (pter-->p21.2::p12-->qter) and a CHARGE-like phenotype.
Academic Article Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Gouti?res syndrome.
Academic Article Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.
Academic Article The face of Noonan syndrome: Does phenotype predict genotype.
Academic Article The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
Academic Article A mutation screen in patients with Kabuki syndrome.
Academic Article Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
Academic Article Mutations in NSUN2 cause autosomal-recessive intellectual disability.
Academic Article Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature.
Academic Article Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.
Academic Article Human facial dysostoses.
Academic Article A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
Academic Article 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.
Academic Article Extreme growth failure is a common presentation of ligase IV deficiency.
Academic Article Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.
Academic Article Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
Academic Article Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
Concept Phenotype
Academic Article Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Academic Article Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.
Academic Article Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Academic Article The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Academic Article Comprehensive neurological evaluation of a cohort of patients with neurofibromatosis type 1 from a single institution.
Academic Article The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

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