Calcium and bone

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
Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome
Bernard Thienpont, Frédérique Béna, Jeroen Breckpot, Nicole Philip, Björn Menten, Hilde Van Esch, Emmanuel Scalais, Jessica M Salamone, Chin-To Fong, Jennifer L Kussmann, Dorothy K Grange, Jerome L Gorski, Farah Zahir, Siu Li Yong, Michael M Morris, Stefania Gimelli, Jean-Pierre Fryns, Geert Mortier, Jan M Friedman, Laurent Villard, Armand Bottani, Joris R Vermeesch, Sau Wai Cheung, Koen Devriendt

Journal of Medical Genetics Mar 2010, 47 (3) 155-161; DOI: 10.1136/jmg.2009.070573
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands
S S Cathey, J G Leroy, T Wood, K Eaves, R J Simensen, M Kudo, R E Stevenson, M J Friez

Journal of Medical Genetics Jan 2010, 47 (1) 38-48; DOI: 10.1136/jmg.2009.067736
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome
M A Mencarelli, A Spanhol-Rosseto, R Artuso, D Rondinella, R De Filippis, N Bahi-Buisson, J Nectoux, R Rubinsztajn, T Bienvenu, A Moncla, B Chabrol, L Villard, Z Krumina, J Armstrong, A Roche, M Pineda, E Gak, F Mari, F Ariani, A Renieri

Journal of Medical Genetics Jan 2010, 47 (1) 49-53; DOI: 10.1136/jmg.2009.067884
Encephalocraniocutaneous lipomatosis
U Moog

Journal of Medical Genetics Nov 2009, 46 (11) 721-729; DOI: 10.1136/jmg.2009.066068
Phenotype and genotype in 17 patients with Goltz–Gorlin syndrome
S M Maas, M P Lombardi, A J van Essen, E L Wakeling, B Castle, I K Temple, V K A Kumar, K Writzl, Raoul C M Hennekam

Journal of Medical Genetics Oct 2009, 46 (10) 716-720; DOI: 10.1136/jmg.2009.068403
Association of chromosome 2q36.1–36.3 and autosomal dominant transmission in ankylosing spondylitis: results of genetic studies across generations of Han Chinese families
J Gu, J Huang, C Li, L Zhao, F Huang, Z Liao, T Li, Q Wei, Z Lin, Y Pan, J Huang, X Wang, Q Lin, C Lu, Y Wu, S Cao, J Wu, H Xu, B Yu, Y Shen

Journal of Medical Genetics Oct 2009, 46 (10) 657-662; DOI: 10.1136/jmg.2009.066456
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
A Willaert, F Malfait, S Symoens, K Gevaert, H Kayserili, A Megarbane, G Mortier, J G Leroy, P J Coucke, A De Paepe

Journal of Medical Genetics Apr 2009, 46 (4) 233-241; DOI: 10.1136/jmg.2008.062729
Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1)
T Tucker, C Schnabel, M Hartmann, R E Friedrich, I Frieling, H-P Kruse, V-F Mautner, J M Friedman

Journal of Medical Genetics Apr 2009, 46 (4) 259-265; DOI: 10.1136/jmg.2008.061895
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome
M J Lyons, J M Graham, G Neri, A G W Hunter, R D Clark, R C Rogers, M Moscarda, L Boccuto, R Simensen, J Dodd, S Robertson, B R DuPont, M J Friez, C E Schwartz, R E Stevenson

Journal of Medical Genetics Jan 2009, 46 (1) 9-13; DOI: 10.1136/jmg.2008.060509

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