Calcium and bone

Life expectancy in hereditary cancer predisposing diseases: an observational study
Anna Wilding, Sarah Louise Ingham, Fiona Lalloo, Tara Clancy, Susan M Huson, Anthony Moran, D Gareth Evans

Journal of Medical Genetics Apr 2012, 49 (4) 264-269; DOI: 10.1136/jmedgenet-2011-100562
A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14
C Steiner, N Ehtesham, K D Taylor, E Sebald, R Cantor, L M King, X Guo, T Hang, M S Hu, J-R Cui, B Friedman, D Norato, J Allanson, C Honeywell, G Mettler, F Field, R Lachman, D H Cohn, D Krakow

Journal of Medical Genetics Apr 2004, 41 (4) 266-269; DOI: 10.1136/jmg.2003.012252
Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects
B Lecumberri, E Fernández-Rebollo, L Sentchordi, P Saavedra, A Bernal-Chico, L F Pallardo, J M Jiménez Bustos, L Castaño, M de Santiago, O Hiort, G Pérez de Nanclares, M Bastepe

Journal of Medical Genetics Apr 2010, 47 (4) 276-280; DOI: 10.1136/jmg.2009.071001
Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions
T Nagai, N Matsumoto, N Kurotaki, N Harada, N Niikawa, T Ogata, K Imaizumi, K Kurosawa, T Kondoh, H Ohashi, M Tsukahara, Y Makita, T Sugimoto, T Sonoda, T Yokoyama, K Uetake, S Sakazume, Y Fukushima, K Naritomi

Journal of Medical Genetics Apr 2003, 40 (4) 285-289; DOI: 10.1136/jmg.40.4.285
Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1
A Rakkolainen, S Ala-Mello, P Kristo, A Orpana, I Järvelä

Journal of Medical Genetics Apr 2002, 39 (4) 292-296; DOI: 10.1136/jmg.39.4.292
Mitochondrial DNA haplogroups influence the Friedreich’s ataxia phenotype
M Giacchetti, A Monticelli, I De Biase, L Pianese, M Turano, A Filla, G De Michele, S Cocozza

Journal of Medical Genetics Apr 2004, 41 (4) 293-295; DOI: 10.1136/jmg.2003.015289
Inflammation, genetics, and longevity: further studies on the protective effects in men of IL-10 −1082 promoter SNP and its interaction with TNF-α −308 promoter SNP
D Lio, L Scola, A Crivello, G Colonna-Romano, G Candore, M Bonafé, L Cavallone, F Marchegiani, F Olivieri, C Franceschi, C Caruso

Journal of Medical Genetics Apr 2003, 40 (4) 296-299; DOI: 10.1136/jmg.40.4.296
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome
T Kleefstra, M Smidt, M J G Banning, A R Oudakker, H Van Esch, A P M de Brouwer, W Nillesen, E A Sistermans, B C J Hamel, D de Bruijn, J-P Fryns, H G Yntema, H G Brunner, B B A de Vries, H van Bokhoven

Journal of Medical Genetics Apr 2005, 42 (4) 299-306; DOI: 10.1136/jmg.2004.028464
Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?
V Cormier-Daire, F Molinari, M Rio, O Raoul, M-C de Blois, S Romana, M Vekemans, A Munnich, L Colleaux

Journal of Medical Genetics Apr 2003, 40 (4) 300-303; DOI: 10.1136/jmg.40.4.300
Mutations in GRIP1 cause Fraser syndrome
Maartje J Vogel, Patrick van Zon, Louise Brueton, Marleen Gijzen, Marc C van Tuil, Phillip Cox, Denny Schanze, Ariana Kariminejad, Siavash Ghaderi-Sohi, Edward Blair, Martin Zenker, Peter J Scambler, Hans Kristian Ploos van Amstel, Mieke M van Haelst

Journal of Medical Genetics May 2012, 49 (5) 303-306; DOI: 10.1136/jmedgenet-2011-100590

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