Publications by authors named "Maria Wehner"

Claim this Profile
N
Novel pathogenic variants in HR underlie atrichia with papular lesions in a cohort of 10 families.
Kifayat Ullah, Sohail Ahmed, Nicole Cesarato, Xing Xiong, Maria Taj, Maria Wehner

J Dermatol· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A nonsense variant in KRT31 is associated with autosomal dominant monilethrix.
Xing Xiong, Nicole Cesarato, Yasmina Gossmann, Maria Wehner, Sheetal Kumar

Br J Dermatol· November 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
First East Asian case of uncombable hair syndrome.
Ye Li, Xing Xiong, Nicole Cesarato, Maria Wehner, F Buket Basmanav

J Dtsch Dermatol Ges· October 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss.
Nicole Cesarato, Agnes Schwieger-Briel, Yasmina Gossmann, Sabrina K Henne, Kathrin Hillmann, Maria Wehner

Br J Dermatol· November 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
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, Peter H Hoeger

Pediatr Dermatol· May 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.
F Buket Basmanav, Nicole Cesarato, Sheetal Kumar, Oleg Borisov, Pavlos Kokordelis, Maria Wehner

JAMA Dermatol· November 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Phenotype diversity associated with TP63 mutations.
Ariane Schmetz, Xing Xiong, Nicole Cesarato, Fitnat Buket Basmanav, Petra Gierthmuehlen, Maria Wehner

J Dtsch Dermatol Ges· June 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Phänotypische Vielfalt bei Varianten im TP63-Gen.
Ariane Schmetz, Xing Xiong, Nicole Cesarato, Fitnat Buket Basmanav, Petra Gierthmuehlen, Maria Wehner

J Dtsch Dermatol Ges· June 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.
Nicole Cesarato, Maria Wehner, Mariam Ghughunishvili, Axel Schmidt, Daisy Axt

Am J Med Genet A· December 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis.
Damian J Ralser, Hideyuki Takeuchi, Günter Fritz, F Buket Basmanav, Maike Effern, Maria Wehner

J Invest Dermatol· April 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
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, Sabrina Wolf, Maria Wehner

Am J Hum Genet· December 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
O
Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modification.
Burak Tekin, Deniz Yucelten, Cigdem A Zeybek, Ertugrul Kiykim, Maria Wehner

Indian J Dermatol Venereol Leprol· February 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.
Benjamin Gollasch, Fitnat Buket Basmanav, Arti Nanda, Günter Fritz, Hassnaa Mahmoudi, Maria Wehner

Am J Med Genet A· November 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura.
F Buket Basmanav, Günter Fritz, Gilles G Lestringant, Divya Pachat, Sabine Hoffjan, Maria Wehner

J Invest Dermatol· February 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Transgenic mouse technology in skin biology: inducible gene knockout in mice.
Christian Günschmann, Elena Chiticariu, Bhavuk Garg, Merve Meliha Hiz, Yora Mostmans, Maria Wehner

J Invest Dermatol· July 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
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, Günter Fritz, Maria Wehner

Am J Hum Genet· January 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome.
Nils Rahner, Nicolaus Friedrichs, Maria Wehner, Verena Steinke, Stefan Aretz

Acta Oncol· October 2007

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.
Constanze Pagenstecher, Maria Wehner, Waltraut Friedl, Nils Rahner, Stefan Aretz

Hum Genet· March 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes.
Maria Wehner, Elisabeth Mangold, Marlies Sengteller, Nicolaus Friedrichs, Stefan Aretz

Eur J Hum Genet· August 2005

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis