Dermatology

Citations 181-185 of 185 total displayed.

Original articles
Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients

Z-J Wang, M Churchman, E Avizienyte, C McKeown, S Davies, D G R Evans, A Ferguson, I Ellis, Wen-Huai Xu, Zhong-Yu Yan, L A Aaltonen, I P M Tomlinson
J. Med. Genet. 1999; 36: 365-368. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11

Petter Strømme, Kjetil Sundet, Cato Mørk, Jean-Jacques Cassiman, Jean-Pierre Fryns, Stephan Claes
J. Med. Genet. 1999; 36: 374-378. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria

Pekka Arvio, Maria Arvio, Matti Kero, Sinikka Pirinen, Pirjo-Liisa Lukinmaa
J. Med. Genet. 1999; 36: 398-404. [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q

Marie-France Portnoï, Serge Boutchneï, Fabrice Bouscarat, Geneviève Morlier, Sonia Nizard, Hera Dersarkissian, Béatrice Crickx, Marc Nouchy, Jean-Louis Taillemite, Stéphane Belaich
J. Med. Genet. 1999; 36: 246-250. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Sotos syndrome and cutis laxa

Stephen P Robertson, Agnes Bankier
J. Med. Genet. 1999; 36: 51-56. [Abstract] [Full text] [PDF] [Request Permissions]