Calcium and bone

NF1 mutations and clinical spectrum in patients with spinal neurofibromas
L Kluwe, M Tatagiba, C Fünsterer, V-F Mautner

Journal of Medical Genetics May 2003, 40 (5) 368-371; DOI: 10.1136/jmg.40.5.368
Major difference in aetiology and phenotypic abnormalities between transient and permanent neonatal diabetes
E Marquis, J J Robert, C Bouvattier, C Bellanné-Chantelot, C Junien, C Diatloff-Zito

Journal of Medical Genetics May 2002, 39 (5) 370-374; DOI: 10.1136/jmg.39.5.370
Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation
Lieve Nuytinck, Turgut Tükel, Hülya Kayserili, Memnune Yüksel Apak, Anne De Paepe

Journal of Medical Genetics May 2000, 37 (5) 371-375; DOI: 10.1136/jmg.37.5.371
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
Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome
H Gill, J P Cheadle, J Maynard, N Fleming, S Whatley, T Cranston, E M Thompson, H Leonard, M Davis, J Christodoulou, O Skjeldal, F Hanefeld, A Kerr, A Tandy, D Ravine, A Clarke

Journal of Medical Genetics May 2003, 40 (5) 380-384; DOI: 10.1136/jmg.40.5.380
Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome
L Pinson, J Augé, S Audollent, G Mattéi, H Etchevers, N Gigarel, F Razavi, D Lacombe, S Odent, M Le Merrer, J Amiel, A Munnich, G Meroni, S Lyonnet, M Vekemans, T Attié-Bitach

Journal of Medical Genetics May 2004, 41 (5) 381-386; DOI: 10.1136/jmg.2003.014829
Testing for osteogenesis imperfecta in cases of suspected non-accidental injury
A Marlowe, M G Pepin, P H Byers

Journal of Medical Genetics Jun 2002, 39 (6) 382-386; DOI: 10.1136/jmg.39.6.382
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands
L Faivre, G Collod-Beroud, A Child, B Callewaert, B L Loeys, C Binquet, E Gautier, E Arbustini, K Mayer, M Arslan-Kirchner, C Stheneur, A Kiotsekoglou, P Comeglio, N Marziliano, D Halliday, C Beroud, C Bonithon-Kopp, M Claustres, H Plauchu, P N Robinson, L Adès, J De Backer, P Coucke, U Francke, A De Paepe, C Boileau, G Jondeau

Journal of Medical Genetics Jun 2008, 45 (6) 384-390; DOI: 10.1136/jmg.2007.056382
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22–q24.1
N Ishihara, K Yamada, Y Yamada, K Miura, J Kato, N Kuwabara, Y Hara, Y Kobayashi, K Hoshino, Y Nomura, M Mimaki, K Ohya, M Matsushima, H Nitta, K Tanaka, M Segawa, T Ohki, T Ezoe, T Kumagai, A Onuma, T Kuroda, M Yoneda, T Yamanaka, M Saeki, M Segawa, T Saji, M Nagaya, N Wakamatsu

Journal of Medical Genetics May 2004, 41 (5) 387-393; DOI: 10.1136/jmg.2003.016154
Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1
M Zortea, A Vettori, C P Trevisan, S Bellini, G Vazza, M Armani, A Simonati, M L Mostacciuolo

Journal of Medical Genetics Jun 2002, 39 (6) 387-390; DOI: 10.1136/jmg.39.6.387

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