Pituitary disorders

Citations 1-9 of 9 total displayed.

Short reports
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene

H Eiberg, L Hansen, B Kjer, T Hansen, O Pedersen, M Bille, T Rosenberg, L Tranebjærg
J. Med. Genet. 2006; 43: 435-440. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
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
J. Med. Genet. 2004; 41: 872-876. [Extract] [Full text] [PDF] [Request Permissions]  

Original articles
Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3

N M Solomon, S A Ross, T Morgan, J L Belsky, F A Hol, P S Karnes, N J Hopwood, S E Myers, A S Tan, G L Warne, S M Forrest, P Q Thomas
J. Med. Genet. 2004; 41: 669-678. [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Genetic influences on the circulating cytokines involved in osteoclastogenesis

G Livshits, I Pantsulaia, S Trofimov, E Kobyliansky
J. Med. Genet. 2004; 41: e76. [Extract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Identification of eight novel NSD1 mutations in Sotos syndrome

J Kamimura, Y Endo, N Kurotaki, A Kinoshita, N Miyake, O Shimokawa, N Harada, R Visser, H Ohashi, K Miyakawa, J Gerritsen, A M Innes, L Lagace, M Frydman, N Okamoto, R Puttinger, S Raskin, B Resic, V Culic, K Yoshiura, T Ohta, T Kishino, M Ishikawa, N Niikawa, N Matsumoto
J. Med. Genet. 2003; 40: e126. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene

P Höglund, N Kurotaki, S Kytölä, N Miyake, M Somer, N Matsumoto
J. Med. Genet. 2003; 40: 51-54. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
PRKAR1A, one of the Carney complex genes, and its locus (17q22-24) are rarely altered in pituitary tumours outside the Carney complex

F Sandrini, L S Kirschner, T Bei, C Farmakidis, J Yasufuku-Takano, K Takano, T R Prezant, S J Marx, W E Farrell, R N Clayton, L Groussin, J Bertherat, C A Stratakis
J. Med. Genet. 2002; 39: e78. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Wolfram syndrome: a clinical and molecular genetic analysis

Philipp Eller, Bernhard Föger, Roland Gander, Teresa Sauper, Monika Lechleitner, Gerd Finkenstedt, Josef R Patsch
J. Med. Genet. 2001; 38: e37. [Extract] [Full text] [PDF] [Request Permissions]  

Short reports
Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?

L I Al-Gazali, L Sztriha, J Punnose, W Shather, M Nork
J. Med. Genet. 1999; 36: 161-166. [Abstract] [Full text] [PDF] [Request Permissions]