Dermatology

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
Pancreatic cancer risk in Peutz-Jeghers syndrome patients: a large cohort study and implications for surveillance
Susanne E Korsse, Femme Harinck, Margot G F van Lier, Katharina Biermann, G Johan A Offerhaus, Nanda Krak, Caspar W N Looman, Wendy van Veelen, Ernst J Kuipers, Anja Wagner, Evelien Dekker, Elisabeth M H Mathus-Vliegen, Paul Fockens, Monique E van Leerdam, Marco J Bruno

Journal of Medical Genetics Jan 2013, 50 (1) 59-64; DOI: 10.1136/jmedgenet-2012-101277
Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy
B C Gohlke, K Haug, M Fukami, W Friedl, M Noeker, G A Rappold, F Haverkamp

Journal of Medical Genetics Aug 2000, 37 (8) 600-602; DOI: 10.1136/jmg.37.8.600
Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome
M Plasilova, C Chattopadhyay, P Pal, N A Schaub, S A Buechner, Hj Mueller, P Miny, A Ghosh, K Heinimann

Journal of Medical Genetics Aug 2004, 41 (8) 609-614; DOI: 10.1136/jmg.2004.019661
Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum
Ellen G Pfendner, Olivier M Vanakker, Sharon F Terry, Sophia Vourthis, Patricia E McAndrew, Monica R McClain, Sarah Fratta, Anna-Susan Marais, Susan Hariri, Paul J Coucke, Michele Ramsay, Denis Viljoen, Patrick F Terry, Anne De Paepe, Jouni Uitto, Lionel G Bercovitch

Journal of Medical Genetics Oct 2007, 44 (10) 621-628; DOI: 10.1136/jmg.2007.051094
Identification of PTEN mutations in metastatic melanoma specimens
Julide Tok Çelebi, Igor Shendrik, David N Silvers, Monica Peacocke

Journal of Medical Genetics Sep 2000, 37 (9) 653-657; DOI: 10.1136/jmg.37.9.653
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain
G McGillivray, R Savarirayan, T C Cox, C Stojkoski, R McNeil, A Bankier, J F Bateman, T Roscioli, R J M Gardner, S R Lamandé

Journal of Medical Genetics Aug 2005, 42 (8) 656-662; DOI: 10.1136/jmg.2004.027888
Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance
C M Hall, N H Elcioglu, K D MacDermot, A C Offiah, R M Winter

Journal of Medical Genetics Sep 2002, 39 (9) 666-670; DOI: 10.1136/jmg.39.9.666
Familial chronic nail candidiasis with ICAM-1 deficiency: a new form of chronic mucocutaneous candidiasis
D Zuccarello, D C Salpietro, S Gangemi, V Toscano, M V Merlino, S Briuglia, G Bisignano, M Mangino, R Mingarelli, B Dallapiccola

Journal of Medical Genetics Sep 2002, 39 (9) 671-675; DOI: 10.1136/jmg.39.9.671
Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis
Hongzhou Cui, Longnian Li, Wenjun Wang, Jie Shen, Zhen Yue, Xiaodong Zheng, Xianbo Zuo, Bo Liang, Min Gao, Xing Fan, Xianyong Yin, Changbing Shen, Chao Yang, Change Zhang, Xiaoguang Zhang, Yujun Sheng, Jinping Gao, Zhengwei Zhu, Da Lin, Anping Zhang, Zaixing Wang, Shengxiu Liu, Liangdan Sun, Sen Yang, Yong Cui, Xuejun Zhang

Journal of Medical Genetics Oct 2014, 51 (10) 699-704; DOI: 10.1136/jmedgenet-2014-102486

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