Regina Betz
机构: Prof. für Dermatogenetik, Universität Bonn
每年引用次数
引用次数
引用: 7,679
H-指数: 45
I10-指数 : 97
出版物: 149
The R620W polymorphism in PTPN22 confers general susceptibility for the development of alopecia areata
S Eigelshoven , B Blaumeiser , T Tuting , Jozef De Weert
Experimental Dermatology 17 ( 3) 247 -247
2008
Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13.
M. Schalling , K. Lindblad , Bin Tean Teh , C. Larsson
American Journal of Human Genetics 56 ( 6) 1443 -1449
48
1995
Characterisation of the human APC1, the largest subunit of the anaphase-promoting complex
P.M. Jörgensen , S. Gräslund , R. Betz , S. Ståhl
Gene 262 ( 1) 51 -59
16
2001
Atrichie avec lésions papuleuses : un diagnostic différentiel de la pelade à ne pas méconnaître
F. Caux , S. Wolf , V. Lemaire-Lutran , A. Lévy
Annales De Dermatologie Et De Venereologie 141 ( 12)
2014
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis
Ronja Adam , Isabel Spier , Bixiao Zhao , Michael Kloth
American Journal of Human Genetics 99 ( 2) 337 -351
124
2016
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
American Journal of Human Genetics 99 ( 6) 1292 -1304
50
2016
Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Zhimiao Lin , Quan Chen , Lei Shi , Mingyang Lee
American Journal of Human Genetics 91 ( 5) 906 -911
69
2012
Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer
Kathrin A. Giehl , Gertrud N. Eckstein , Sandra M. Pasternack , Silke Praetzel-Wunder
American Journal of Human Genetics 91 ( 4) 754 -759
48
2012
Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Markus M. Nöthen , Utz Fischer , Regina C. Betz , Sandra M. Pasternack
American Journal of Human Genetics 92 ( 1) 81 -87
24
2013
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
American Journal of Human Genetics 94 ( 1) 135 -143
150
2014
Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modification.
Burak Tekin , Deniz Yucelten , CigdemA Zeybek , Ertugrul Kiykim
Indian Journal of Dermatology, Venereology and Leprology 81 ( 3) 303
1
2015
The first report of krt5 mutation underlying acantholytic dowling-degos disease with mottled hypopigmentation in an Indian family
SandraM Pasternack , Arno Rutten , Thomas Ruzicka , ReginaC Betz
Indian Journal of Dermatology 59 ( 5) 476 -480
5
2014
Revisiting hypotrichosis simplex of the scalp as a new human amyloidosis. Involvement of a Gly/Ser-rich domain of corneodesmosin in the fibrillogenesis
C Caubet , L Bousset , R-C Betz , A Bygum
JOURNAL OF INVESTIGATIVE DERMATOLOGY 129 ( 3) 796 -796
2009
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
Regina C. Betz , Jana Pforr , Antonia Flaquer , Silke Redler
Journal of Investigative Dermatology 127 ( 11) 2539 -2543
68
2007
Odd-Looking Hair and Progressive Alopecia in Mother and Son
Annette Kolb-Mäurer , Regina C. Betz , Henning Hamm
JAMA Dermatology 150 ( 5) 567 -568
2014
A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype
Paulien A. Terhal , Rutger Jan A. J. Nievelstein , Eva J. J. Verver , Vedat Topsakal
American Journal of Medical Genetics Part A 167 ( 3) 461 -475
80
2015
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
American Journal of Medical Genetics Part A 167 ( 11) 2555 -2562
8
2015
Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3
Chao-Kai Hsu , Maria Teresa Romano , Arti Nanda , Ellie Rashidghamat
Journal of Investigative Dermatology 137 ( 5) 1176 -1179
11
2017
Galli-Galli disease is an acantholytic variant of Dowling-Degos disease: additional genetic evidence in a German family.
Astrid Schmieder , Sandra M. Pasternack , Dieter Krahl , Regina C. Betz
Journal of The American Academy of Dermatology 66 ( 6)
14
2012
Marie Unna hereditary hypotrichosis: Identification of a U2HR mutation in the family from the original 1925 report
Silke Redler , Roland Kruse , Sibylle Eigelshoven , Sandra Hanneken
Journal of The American Academy of Dermatology 64 ( 4)
13
2011