Calcium and bone

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
Björn Menten, Karen Buysse, Farah Zahir, Jan Hellemans, Sara J Hamilton, Teresa Costa, Carrie Fagerstrom, George Anadiotis, Daniel Kingsbury, Barbara C McGillivray, Marco A Marra, Jan M Friedman, Frank Speleman, Geert Mortier

Journal of Medical Genetics Apr 2007, 44 (4) 264-268; DOI: 10.1136/jmg.2006.047860
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB
Louise S Bicknell, Claire Farrington-Rock, Yousef Shafeghati, Patrick Rump, Yasemin Alanay, Yves Alembik, Navid Al-Madani, Helen Firth, Mohammad Hassan Karimi-Nejad, Chong Ae Kim, Kathryn Leask, Melissa Maisenbacher, Ellen Moran, John G Pappas, Paolo Prontera, Thomy de Ravel, Jean-Pierre Fryns, Elizabeth Sweeney, Alan Fryer, Sheila Unger, L C Wilson, Ralph S Lachman, David L Rimoin, Daniel H Cohn, Deborah Krakow, Stephen P Robertson

Journal of Medical Genetics Feb 2007, 44 (2) 89-98; DOI: 10.1136/jmg.2006.043687
Associations of catalase gene polymorphisms with bone mineral density and bone turnover markers in postmenopausal women
Bermseok Oh, Shin-Yoon Kim, Duk Jae Kim, Jong Yong Lee, Jong-Keuk Lee, Kuchan Kimm, Byung Lae Park, Hyoung Doo Shin, Tae-Ho Kim, Eui Kyun Park, Jung-Min Koh, Ghi Su Kim

Journal of Medical Genetics Jan 2007, 44 (1) e62; DOI: 10.1136/jmg.2006.042259
Clinical features in a family with an R460H mutation in transforming growth factor β receptor 2 gene
C Law, D Bunyan, B Castle, L Day, I Simpson, G Westwood, B Keeton

Journal of Medical Genetics Dec 2006, 43 (12) 908-916; DOI: 10.1136/jmg.2006.042176
Biochemical screening of type I collagen in osteogenesis imperfecta: detection of glycine substitutions in the amino end of the alpha chains requires supplementation by molecular analysis
W A Cabral, S Milgrom, A D Letocha, E Moriarty, J C Marini

Journal of Medical Genetics Aug 2006, 43 (8) 685-690; DOI: 10.1136/jmg.2005.040493
Total absence of the α2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems
F Malfait, S Symoens, P Coucke, L Nunes, S De Almeida, A De Paepe

Journal of Medical Genetics Jul 2006, 43 (7) e36; DOI: 10.1136/jmg.2005.038224
Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region
A Tagariello, R Heller, A Greven, V M Kalscheuer, T Molter, A Rauch, W Kress, A Winterpacht

Journal of Medical Genetics Jun 2006, 43 (6) 534-540; DOI: 10.1136/jmg.2005.037820
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene
K P Hoornaert, C Dewinter, I Vereecke, F A Beemer, W Courtens, A Fryer, H Fryssira, M Lees, A Müllner-Eidenböck, D L Rimoin, L Siderius, A Superti-Furga, K Temple, P J Willems, A Zankl, C Zweier, A De Paepe, P Coucke, G R Mortier

Journal of Medical Genetics May 2006, 43 (5) 406-413; DOI: 10.1136/jmg.2005.035717
Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment
A Del Fattore, B Peruzzi, N Rucci, I Recchia, A Cappariello, M Longo, D Fortunati, P Ballanti, M Iacobini, M Luciani, R Devito, R Pinto, M Caniglia, E Lanino, C Messina, S Cesaro, C Letizia, G Bianchini, H Fryssira, P Grabowski, N Shaw, N Bishop, D Hughes, R P Kapur, H K Datta, A Taranta, R Fornari, S Migliaccio, A Teti

Journal of Medical Genetics Apr 2006, 43 (4) 315-325; DOI: 10.1136/jmg.2005.036673
Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3
W-M Chan, E I Traboulsi, B Arthur, N Friedman, C Andrews, E C Engle

Journal of Medical Genetics Mar 2006, 43 (3) e11; DOI: 10.1136/jmg.2005.035436

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