Search results for: Maria Wehner

Items from 1 to 8 out of 8 results

article

First East Asian case of uncombable hair syndrome

Ye Li, Xing Xiong, Nicole Cesarato, Maria Wehner, more

JDDG: Journal der Deutschen Dermatologischen Gesellschaft > 22 > 10 > 1433 - 1435

article

Erster ostasiatischer Fall des Syndroms der unkämmbaren Haare

Ye Li, Xing Xiong, Nicole Cesarato, Maria Wehner, more

JDDG: Journal der Deutschen Dermatologischen Gesellschaft > 22 > 10 > 1433 - 1435

article

Identification of a novel sporadic U2HR pathogenic variant in a patient with Marie Unna hereditary hypotrichosis

Tatjana Braun, Maria Wehner, Anne Teichler, Regina C. Betz, more

Pediatric Dermatology > 40 > 3 > 466 - 467

Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by coarse, wiry, and twisted hair developing during early childhood, and followed by progressive hair loss with puberty. We report a sporadic case of a 4‐year‐old boy with clinical features suggestive of MUHH, in whom we identified the new pathogenic variant c.67C>T; p.(Gln23*) in U2HR. This...

article

Phänotypische Vielfalt bei Varianten im TP63‐Gen

Ariane Schmetz, Xing Xiong, Nicole Cesarato, Fitnat Buket Basmanav, more

JDDG: Journal der Deutschen Dermatologischen Gesellschaft > 20 > 6 > 871 - 875

article

Phenotype diversity associated with TP63 mutations

Ariane Schmetz, Xing Xiong, Nicole Cesarato, Fitnat Buket Basmanav, more

JDDG: Journal der Deutschen Dermatologischen Gesellschaft > 20 > 6 > 872 - 875

article

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

F. Buket Ü. Basmanav, Laura Cau, Aylar Tafazzoli, Marie-Claire Méchin, more

The American Journal of Human Genetics > 2016 > 99 > 6 > 1292-1304

Uncombable hair syndrome (UHS), also known as “spun glass hair syndrome,” “pili trianguli et canaliculi,” or “cheveux incoiffables” is a rare anomaly of the hair shaft that occurs in children and improves with age. UHS is characterized by dry, frizzy, spangly, and often fair hair that is resistant to being combed flat. Until now, both simplex and familial UHS-affected case subjects with autosomal-dominant...

article

Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

F. Buket Basmanav, Ana-Maria Oprisoreanu, Sandra M. Pasternack, Holger Thiele, more

The American Journal of Human Genetics > 2014 > 94 > 1 > 135-143

Dowling-Degos disease (DDD) is an autosomal-dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation. We previously identified loss-of-function mutations in KRT5 but were only able to detect pathogenic mutations in fewer than half of our subjects. To identify additional causes of DDD, we performed exome sequencing in five unrelated affected individuals without...

article

Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants

Constanze Pagenstecher, Maria Wehner, Waltraut Friedl, Nils Rahner, more

Human Genetics > 2006 > 119 > 1-2 > 9-22

Single base substitutions in DNA mismatch repair genes which are predicted to lead either to missense or silent mutations, or to intronic variants outside the highly conserved splicing region are often found in hereditary nonpolyposis colorectal cancer (HNPCC) families. In order to use the variants for predictive testing in persons at risk, their pathogenicity has to be evaluated. There is growing...

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INFONA - science communication portal

Search results for: Maria Wehner

First East Asian case of uncombable hair syndrome

Erster ostasiatischer Fall des Syndroms der unkämmbaren Haare

Identification of a novel sporadic U2HR pathogenic variant in a patient with Marie Unna hereditary hypotrichosis

Phänotypische Vielfalt bei Varianten im TP63‐Gen

Phenotype diversity associated with TP63 mutations

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants

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INFONA - science communication portal

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