Dermatology

P63 mutations are not a major cause of non-syndromic split hand/foot malformation
X J de Mollerat, D B Everman, C T Morgan, K B Clarkson, R C Rogers, R S Colby, A S Aylsworth, J M Graham, R E Stevenson, C E Schwartz

Journal of Medical Genetics Jan 2003, 40 (1) 55-61; DOI: 10.1136/jmg.40.1.55
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)
P J Ferguson, S Chen, M K Tayeh, L Ochoa, S M Leal, A Pelet, A Munnich, S Lyonnet, H A Majeed, H El-Shanti

Journal of Medical Genetics Jul 2005, 42 (7) 551-557; DOI: 10.1136/jmg.2005.030759
Genetic susceptibility in familial melanoma from northeastern Italy
M T Landi, A M Goldstein, S Tsang, D Munroe, W Modi, M Ter-Minassian, R Steighner, M Dean, N Metheny, B Staats, R Agatep, D Hogg, D Calista

Journal of Medical Genetics Jul 2004, 41 (7) 557-566; DOI: 10.1136/jmg.2003.016907
Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts
L L Barrow, H van Bokhoven, S Daack-Hirsch, T Andersen, S E C van Beersum, R Gorlin, J C Murray

Journal of Medical Genetics Aug 2002, 39 (8) 559-566; DOI: 10.1136/jmg.39.8.559
Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma
Bi-Rong Guo, Xin Zhang, Gang Chen, Jian-Guo Zhang, Liang-Dan Sun, Wei-dong Du, Qing Zhang, Yong Cui, Jun Zhu, Xian-Fa Tang, Ruo Xiao, Yuan Liu, Min Li, Hua-Yang Tang, Xu Yang, Hui Cheng, Ming Li, Min Gao, Ping Li, Jian-Bo Wang, Feng-Ping Xu, Xian-Bo Zuo, Xiao-Dong Zheng, Xiao-Guang Zhang, Lin Yang, Jian-Jun Liu, Jun Wang, Sen Yang, Xue-Jun Zhang

Journal of Medical Genetics Sep 2012, 49 (9) 563-568; DOI: 10.1136/jmedgenet-2012-100868
A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome
E Mangold, C Pagenstecher, M Leister, M Mathiak, A Rütten, W Friedl, P Propping, T Ruzicka, R Kruse

Journal of Medical Genetics Jul 2004, 41 (7) 567-572; DOI: 10.1136/jmg.2003.012997
PTPN11 mutations in LEOPARD syndrome
E Legius, C Schrander-Stumpel, E Schollen, C Pulles-Heintzberger, M Gewillig, J-P Fryns

Journal of Medical Genetics Aug 2002, 39 (8) 571-574; DOI: 10.1136/jmg.39.8.571
Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival
J E A Common, W-L Di, D Davies, D P Kelsell

Journal of Medical Genetics Jul 2004, 41 (7) 573-575; DOI: 10.1136/jmg.2003.017632
Ectodermal dysplasias: a new clinical-genetic classification
Manuela Priolo, Carmelo Laganà

Journal of Medical Genetics Sep 2001, 38 (9) 579-585; DOI: 10.1136/jmg.38.9.579
Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: further delineation of the pure 1q trisomy syndrome
M M van Haelst, H J F M M Eussen, F Visscher, J L M de Ruijter, S L S Drop, D Lindhout, C H Wouters, L C P Govaerts

Journal of Medical Genetics Aug 2002, 39 (8) 582-585; DOI: 10.1136/jmg.39.8.582

Main menu

Dermatology

Pages

Log in using your username and password

Main menu

Log in using your username and password

You are here

Dermatology

Pages