Next Generation Sequencing Competence Network

Next Generation Sequencing Competence Network

e.g. CCGA
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Betz, Regina
One or more keywords matched the following items that are connected to Betz, Regina
Item TypeName
Academic Article Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
Concept Hypotrichosis
Academic Article A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3.
Academic Article [Hair anomalies in syndromic disorders].
Academic Article Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.
Academic Article Two females with hair loss.
Academic Article Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.
Academic Article Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis.
Academic Article A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp.
Academic Article G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth.
Academic Article Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
Academic Article Additional causal SNRPE mutations in hereditary hypotrichosis simplex.
Academic Article Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis.
Academic Article A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin.
Academic Article Marie Unna hereditary hypotrichosis: identification of a U2HR mutation in the family from the original 1925 report.
Academic Article Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation.
Academic Article Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.
Academic Article Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.
Academic Article Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair.
Academic Article [Alopecia and hypotrichosis in childhood: clinical features and diagnosis].
Academic Article Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.
Academic Article Selected variants of the melanocortin 4 receptor gene (MC4R) do not confer susceptibility to female pattern hair loss.
Academic Article Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene.
Academic Article A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.
Academic Article Odd-looking hair and progressive alopecia in mother and son.
Academic Article Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair.
Academic Article In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth.
Academic Article Identification of a novel sporadic U2HR pathogenic variant in a patient with Marie Unna hereditary hypotrichosis.

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  • Hypotrichosis
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