Calcium and bone

Citations 1-10 of 243 total displayed.

Review
Encephalocraniocutaneous lipomatosis

U Moog
J. Med. Genet. 2009 46: 721 -729; published online before print as 10.1136/jmg.2009.066068 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
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
J. Med. Genet. 2009 46: 657 -662; published online before print as 10.1136/jmg.2009.066456 [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation report
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
J. Med. Genet. 2009 46: 716 -720; published online before print as 10.1136/jmg.2009.068403 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
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
J. Med. Genet. 2009 46: 233 -241; published online before print as 10.1136/jmg.2008.062729 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
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
J. Med. Genet. 2009 46: 259 -265; published online before print as 10.1136/jmg.2008.061895 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome

M J Lyons, J M Graham, Jr, 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
J. Med. Genet. 2009 46: 9 -13; published online before print as 10.1136/jmg.2008.060509 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia

L Bonafé, J Hästbacka, A de la Chapelle, A B Campos-Xavier, C Chiesa, A Forlino, A Superti-Furga, A Rossi
J. Med. Genet. 2008 45: 827 -831; published online before print as 10.1136/jmg.2007.057158 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation

V Laugel, C Dalloz, E S Tobias, J L Tolmie, D Martin-Coignard, V Drouin-Garraud, V Valayannopoulos, A Sarasin, H Dollfus
J. Med. Genet. 2008 45: 564 -571; published online before print as 10.1136/jmg.2007.057141 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Triphalangeal thumb–polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer

M Sun, F Ma, X Zeng, Q Liu, X-L Zhao, F-X Wu, G-P Wu, Z-F Zhang, B Gu, Y-F Zhao, S-H Tian, B Lin, X-Y Kong, X-L Zhang, W Yang, W H-Y Lo, X Zhang
J. Med. Genet. 2008 45: 589 -595; published online before print as 10.1136/jmg.2008.057646 [Abstract] [Full text] [PDF] [Request Permissions] [ web only figure ]  

Short report
High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation

F S Jehee, A C V Krepischi-Santos, K M Rocha, D P Cavalcanti, C A Kim, D R Bertola, L G Alonso, C S D’Angelo, J F Mazzeu, G Froyen, D Lugtenberg, A M Vianna-Morgante, C Rosenberg, M R Passos-Bueno
J. Med. Genet. 2008 45: 447 -450; published online before print as 10.1136/jmg.2007.057042 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]