Calcium and bone

Breakpoints around the HOXD cluster result in various limb malformations
B Dlugaszewska, A Silahtaroglu, C Menzel, S Kübart, M Cohen, S Mundlos, Z Tümer, K Kjaer, U Friedrich, H-H Ropers, N Tommerup, H Neitzel, V M Kalscheuer

Journal of Medical Genetics Feb 2006, 43 (2) 111-118; DOI: 10.1136/jmg.2005.033555
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene
L Van Maldergem, H A Siitonen, N Jalkh, E Chouery, M De Roy, V Delague, M Muenke, E W Jabs, J Cai, L L Wang, S E Plon, C Fourneau, M Kestilä, Y Gillerot, A Mégarbané, A Verloes

Journal of Medical Genetics Feb 2006, 43 (2) 148-152; DOI: 10.1136/jmg.2005.031781
Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype
U Moog, M C Jones, L M Bird, W B Dobyns

Journal of Medical Genetics Dec 2005, 42 (12) 913-921; DOI: 10.1136/jmg.2005.031369
A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes
R Gooding, J Colomer, R King, D Angelicheva, L Marns, Y Parman, D Chandler, J Bertranpetit, L Kalaydjieva

Journal of Medical Genetics Dec 2005, 42 (12) e69; DOI: 10.1136/jmg.2005.034132
Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero
R Froissart, D Cheillan, R Bouvier, S Tourret, V Bonnet, M Piraud, I Maire

Journal of Medical Genetics Nov 2005, 42 (11) 829-836; DOI: 10.1136/jmg.2004.029744
Matrilin-3 mutations that cause chondrodysplasias interfere with protein trafficking while a mutation associated with hand osteoarthritis does not
C Otten, R Wagener, M Paulsson, F Zaucke

Journal of Medical Genetics Oct 2005, 42 (10) 774-779; DOI: 10.1136/jmg.2004.029462
The oestrogen receptor α gene is linked and/or associated with age of menarche in different ethnic groups
J-R Long, H Xu, L-J Zhao, P-Y Liu, H Shen, Y-J Liu, D-H Xiong, P Xiao, Y-Z Liu, V Dvornyk, J-L Li, R R Recker, H-W Deng

Journal of Medical Genetics Oct 2005, 42 (10) 796-800; DOI: 10.1136/jmg.2004.028381
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain
G McGillivray, R Savarirayan, T C Cox, C Stojkoski, R McNeil, A Bankier, J F Bateman, T Roscioli, R J M Gardner, S R Lamandé

Journal of Medical Genetics Aug 2005, 42 (8) 656-662; DOI: 10.1136/jmg.2004.027888
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)
P J Ferguson, S Chen, M K Tayeh, L Ochoa, S M Leal, A Pelet, A Munnich, S Lyonnet, H A Majeed, H El-Shanti

Journal of Medical Genetics Jul 2005, 42 (7) 551-557; DOI: 10.1136/jmg.2005.030759
Mutations in FLNB cause boomerang dysplasia
L S Bicknell, T Morgan, L Bonafé, M W Wessels, M G Bialer, P J Willems, D H Cohn, D Krakow, S P Robertson

Journal of Medical Genetics Jul 2005, 42 (7) e43; DOI: 10.1136/jmg.2004.029967

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