Pituitary disorders

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

Journal of Medical Genetics Feb 1999, 36 (2) 161-166; DOI: 10.1136/jmg.36.2.161
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

Journal of Medical Genetics May 2006, 43 (5) 435-440; DOI: 10.1136/jmg.2005.034892
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

Journal of Medical Genetics Jan 2003, 40 (1) 51-54; DOI: 10.1136/jmg.40.1.51
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

Journal of Medical Genetics Sep 2004, 41 (9) 669-678; DOI: 10.1136/jmg.2003.016949
Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes
Robert B Hufnagel, Gavin Arno, Nichole D Hein, Joshua Hersheson, Megana Prasad, Yvonne Anderson, Laura A Krueger, Louise C Gregory, Corinne Stoetzel, Thomas J Jaworek, Sarah Hull, Abi Li, Vincent Plagnol, Christi M Willen, Thomas M Morgan, Cynthia A Prows, Rashmi S Hegde, Saima Riazuddin, Gregory A Grabowski, Rudy J Richardson, Klaus Dieterich, Taosheng Huang, Tamas Revesz, J P Martinez-Barbera, Robert A Sisk, Craig Jefferies, Henry Houlden, Mehul T Dattani, John K Fink, Helene Dollfus, Anthony T Moore, Zubair M Ahmed

Journal of Medical Genetics Feb 2015, 52 (2) 85-94; DOI: 10.1136/jmedgenet-2014-102856
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
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

Journal of Medical Genetics Nov 2003, 40 (11) e126; DOI: 10.1136/jmg.40.11.e126
Wolfram syndrome: a clinical and molecular genetic analysis
Philipp Eller, Bernhard Föger, Roland Gander, Teresa Sauper, Monika Lechleitner, Gerd Finkenstedt, Josef R Patsch

Journal of Medical Genetics Nov 2001, 38 (11) e37; DOI: 10.1136/jmg.38.11.e37
Genetic influences on the circulating cytokines involved in osteoclastogenesis
G Livshits, I Pantsulaia, S Trofimov, E Kobyliansky

Journal of Medical Genetics Jun 2004, 41 (6) e76; DOI: 10.1136/jmg.2003.014373
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

Journal of Medical Genetics Dec 2002, 39 (12) e78; DOI: 10.1136/jmg.39.12.e78

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