Dermatology

Clinical and genetic studies of Birt-Hogg-Dubé syndrome
S K Khoo, S Giraud, K Kahnoski, J Chen, O Motorna, R Nickolov, O Binet, D Lambert, J Friedel, R Lévy, S Ferlicot, P Wolkenstein, P Hammel, U Bergerheim, M-A Hedblad, M Bradley, B T Teh, M Nordenskjöld, S Richard

Journal of Medical Genetics Dec 2002, 39 (12) 906-912; DOI: 10.1136/jmg.39.12.906
Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype
U Moog, M C Jones, L M Bird, W B Dobyns

Journal of Medical Genetics Dec 2005, 42 (12) 913-921; DOI: 10.1136/jmg.2005.031369
Identification of cathepsin C mutations in ethnically diverse Papillon-Lefèvre syndrome patients
P S Hart, Y Zhang, E Firatli, C Uygur, M Lotfazar, M D Michalec, J J Marks, X Lu, B J Coates, W K Seow, R Marshall, D Williams, J B Reed, J T Wright, T C Hart

Journal of Medical Genetics Dec 2000, 37 (12) 927-932; DOI: 10.1136/jmg.37.12.927
Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation
T C Hart, P S Hart, M D Michalec, Y Zhang, M L Marazita, M Cooper, O M Yassin, M Nusier, S Walker

Journal of Medical Genetics Feb 2000, 37 (2) 95-101; DOI: 10.1136/jmg.37.2.95
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents
Alisa M Goldstein, May Chan, Mark Harland, Nicholas K Hayward, Florence Demenais, D Timothy Bishop, Esther Azizi, Wilma Bergman, Giovanna Bianchi-Scarra, William Bruno, Donato Calista, Lisa A Cannon Albright, Valerie Chaudru, Agnes Chompret, Francisco Cuellar, David E Elder, Paola Ghiorzo, Elizabeth M Gillanders, Nelleke A Gruis, Johan Hansson, David Hogg, Elizabeth A Holland, Peter A Kanetsky, Richard F Kefford, Maria Teresa Landi, Julie Lang, Sancy A Leachman, Rona M MacKie, Veronica Magnusson, Graham J Mann, Julia Newton Bishop, Jane M Palmer, Susana Puig, Joan A Puig-Butille, Mitchell Stark, Hensin Tsao, Margaret A Tucker, Linda Whitaker, Emanuel Yakobson

Journal of Medical Genetics Feb 2007, 44 (2) 99-106; DOI: 10.1136/jmg.2006.043802
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome
A Uzumcu, E E Norgett, A Dindar, O Uyguner, K Nisli, H Kayserili, S E Sahin, E Dupont, N J Severs, I M Leigh, M Yuksel-Apak, D P Kelsell, B Wollnik

Journal of Medical Genetics Feb 2006, 43 (2) e05; DOI: 10.1136/jmg.2005.032904
Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome
J R Toro, Y O Shevchenko, J G Compton, S J Bale

Journal of Medical Genetics Feb 2002, 39 (2) e10; DOI: 10.1136/jmg.39.2.e10
The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy
J Bond, K Flintoff, J Higgins, S Scott, C Bennet, J Parsons, J Mannon, H Jafri, Y Rashid, M Barrow, R Trembath, G Woodruff, E Rossa, S Lynch, J Sheilds, R Newbury-Ecob, A Falconer, P Holland, D Cockburn, G Karbani, S Malik, M Ahmed, E Roberts, G Taylor, C G Woods

Journal of Medical Genetics Feb 2005, 42 (2) e10; DOI: 10.1136/jmg.2004.026617
Identification of a splice acceptor site mutation in p16^INK4A/p14^ARF within a breast cancer, melanoma, neurofibroma prone kindred
A H Prowse, D C Schultz, S Guo, L Vanderveer, J Dangel, B Bove, P Cairns, M Daly, A K Godwin

Journal of Medical Genetics Aug 2003, 40 (8) e102; DOI: 10.1136/jmg.40.8.e102
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers
A Morrone, C Cavicchi, T Bardelli, D Antuzzi, R Parini, M Di Rocco, S Feriozzi, O Gabrielli, R Barone, G Pistone, C Spisni, R Ricci, E Zammarchi

Journal of Medical Genetics Aug 2003, 40 (8) e103; DOI: 10.1136/jmg.40.8.e103

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