Clinical genetics

Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma
Franck Bourdeaut, Aurélie Hérault, David Gentien, Gaëlle Pierron, Stelly Ballet, Stéphanie Reynaud, Régine Paris, Gudrun Schleiermacher, Clarisse Baumann, Pascale Philippe-Chomette, Marion Gauthier-Villars, Michel Peuchmaur, François Radvanyi, Olivier Delattre

Journal of Medical Genetics Dec 2010, 47 (12) 859-862; DOI: 10.1136/jmg.2009.075374
Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel
L Ocaka, C Zhao, J A Reed, N D Ebenezer, G Brice, T Morley, M Mehta, J O’Dowd, J L Weber, A J Hardcastle, A H Child

Journal of Medical Genetics Feb 2008, 45 (2) 87-92; DOI: 10.1136/jmg.2007.051896
Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22–q24
A Martinez-Mir, A Zlotogorski, D Londono, D Gordon, A Grunn, E Uribe, L Horev, I M Ruiz, N O Davalos, O Alayan, J Liu, T C Gilliam, J C Salas-Alanis, A M Christiano

Journal of Medical Genetics Dec 2003, 40 (12) 872-878; DOI: 10.1136/jmg.40.12.872
A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14–21
T B Kim, B Isaacson, T A Sivakumaran, A Starr, B J B Keats, M M Lesperance

Journal of Medical Genetics Nov 2004, 41 (11) 872-876; DOI: 10.1136/jmg.2004.020628
A genomewide scan for quantitative trait loci underlying areal bone size variation in 451 Caucasian families
H Shen, J-R Long, D-H Xiong, Y-F Guo, P Xiao, Y-Z Liu, L-J Zhao, Y-J Liu, H-Y Deng, J-L Li, R R Recker, H-W Deng

Journal of Medical Genetics Nov 2006, 43 (11) 873-880; DOI: 10.1136/jmg.2006.041251
Identification of a new locus for isolated familial keratoconus at 2p24
H Hutchings, H Ginisty, M Le Gallo, D Levy, F Stoësser, J F Rouland, J L Arné, M H Lalaux, P Calvas, M P Roth, A Hovnanian, F Malecaze

Journal of Medical Genetics Jan 2005, 42 (1) 88-94; DOI: 10.1136/jmg.2004.022103
Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32
Melissa M Lees, Robin M Winter, Sue Malcolm, Howard M Saal, Lyn Chitty

Journal of Medical Genetics Dec 1999, 36 (12) 888-892; DOI: 10.1136/jmg.36.12.888
Genome-wide scan linkage analysis for Parkinson’s disease: the European genetic study of Parkinson’s disease
M Martinez, A Brice, J R Vaughan, A Zimprich, M M B Breteler, G Meco, A Filla, M J Farrer, C Bétard, J Hardy, G De Michele, V Bonifati, B Oostra, T Gasser, N W Wood, A Dürr

Journal of Medical Genetics Dec 2004, 41 (12) 900-907; DOI: 10.1136/jmg.2004.022632
Chromatin modification and disease
Colin A Johnson

Journal of Medical Genetics Dec 2000, 37 (12) 905-915; DOI: 10.1136/jmg.37.12.905
Evolution and expression of FOXL2
J Cocquet, E Pailhoux, F Jaubert, N Servel, X Xia, M Pannetier, E De Baere, L Messiaen, C Cotinot, M Fellous, R A Veitia

Journal of Medical Genetics Dec 2002, 39 (12) 916-921; DOI: 10.1136/jmg.39.12.916

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