Calcium and bone

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum
Denise P Cavalcanti, Celine Huber, Kim-Hanh Le Quan Sang, Geneviève Baujat, Felicity Collins, Anne-Lise Delezoide, Nathalie Dagoneau, Martine Le Merrer, Jelena Martinovic, Marcos Fernando S Mello, Michel Vekemans, Arnold Munnich, Valerie Cormier-Daire

Journal of Medical Genetics Feb 2011, 48 (2) 88-92; DOI: 10.1136/jmg.2009.069468
2q31.1 microdeletion syndrome: redefining the associated clinical phenotype
Boyan Dimitrov, Irina Balikova, Thomy de Ravel, Hilde Van Esch, Maryse De Smedt, Emiel Baten, Joris Robert Vermeesch, Irena Bradinova, Emil Simeonov, Koen Devriendt, Jean-Pierre Fryns, Philippe Debeer

Journal of Medical Genetics Feb 2011, 48 (2) 98-104; DOI: 10.1136/jmg.2010.079491
Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib
Stéphanie Maupetit-Méhouas, Virginie Mariot, Christelle Reynès, Guylène Bertrand, Francois Feillet, Jean-Claude Carel, Dominique Simon, Hélène Bihan, Vincent Gajdos, Eve Devouge, Savitha Shenoy, Placide Agbo-Kpati, Anne Ronan, Catherine Naud-Saudreau, Anne Lienhardt, Caroline Silve, Agnès Linglart

Journal of Medical Genetics Jan 2011, 48 (1) 55-63; DOI: 10.1136/jmg.2010.081356
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families
M Willems, D Geneviève, G Borck, C Baumann, G Baujat, E Bieth, P Edery, C Farra, M Gerard, D Héron, B Leheup, M Le Merrer, S Lyonnet, D Martin-Coignard, M Mathieu, C Thauvin-Robinet, A Verloes, L Colleaux, A Munnich, V Cormier-Daire

Journal of Medical Genetics Dec 2010, 47 (12) 797-802; DOI: 10.1136/jmg.2009.067298
Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis
Elena G Bochukova, Shamit Soneji, Steven A Wall, Andrew O M Wilkie

Journal of Medical Genetics Dec 2010, 47 (12) 803-808; DOI: 10.1136/jmg.2009.069617
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions
V-F Mautner, L Kluwe, R E Friedrich, A C Roehl, S Bammert, J Högel, H Spöri, D N Cooper, H Kehrer-Sawatzki

Journal of Medical Genetics Sep 2010, 47 (9) 623-630; DOI: 10.1136/jmg.2009.075937
Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactyly
Boyan Ivanov Dimitrov, Thierry Voet, Luc De Smet, Joris Robert Vermeesch, Koen Devriendt, Jean-Pierre Fryns, Philippe Debeer

Journal of Medical Genetics Aug 2010, 47 (8) 569-574; DOI: 10.1136/jmg.2009.073833
The revised Ghent nosology for the Marfan syndrome
Bart L Loeys, Harry C Dietz, Alan C Braverman, Bert L Callewaert, Julie De Backer, Richard B Devereux, Yvonne Hilhorst-Hofstee, Guillaume Jondeau, Laurence Faivre, Dianna M Milewicz, Reed E Pyeritz, Paul D Sponseller, Paul Wordsworth, Anne M De Paepe

Journal of Medical Genetics Jul 2010, 47 (7) 476-485; DOI: 10.1136/jmg.2009.072785
Novel CENPJ mutation causes Seckel syndrome
Mohammed S Al-Dosari, Ranad Shaheen, Dilek Colak, Fowzan S Alkuraya

Journal of Medical Genetics Jun 2010, 47 (6) 411-414; DOI: 10.1136/jmg.2009.076646
Submicroscopic chromosomal imbalances in idiopathic Silver–Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome
S Spengler, N Schönherr, G Binder, H A Wollmann, S Fricke-Otto, R Mühlenberg, B Denecke, M Baudis, T Eggermann

Journal of Medical Genetics May 2010, 47 (5) 356-360; DOI: 10.1136/jmg.2009.070052

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