Reproductive medicine

Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia
R Giorda, A Cerritello, M C Bonaglia, S Bova, G Lanzi, E Repetti, S Giglio, C Baschirotto, T Pramparo, L Avolio, R Bragheri, P Maraschio, O Zuffardi

Journal of Medical Genetics Jun 2004, 41 (6) e71; DOI: 10.1136/jmg.2003.012260
MYO7A mutation screening in Usher syndrome type I patients from diverse origins
T Jaijo, E Aller, M Beneyto, C Najera, C Graziano, D Turchetti, M Seri, C Ayuso, M Baiget, F Moreno, C Morera, H Perez-Garrigues, J M Millan

Journal of Medical Genetics Mar 2007, 44 (3) e71; DOI: 10.1136/jmg.2006.045377
Mosaicism for duplication 12q (12q13→12q21.2) accompanied by a pericentric inversion in a dysmorphic female infant
J R Vermeesch, M Syrrou, I Salden, F Dhondt, G Matthijs, J-P Fryns

Journal of Medical Genetics Nov 2002, 39 (11) e72; DOI: 10.1136/jmg.39.11.e72
Is growth hormone treatment beneficial or harmful in Costello syndrome?
B Kerr, M A Einaudi, P Clayton, G Gladman, T Eden, P Saunier, D Genevieve, N Philip

Journal of Medical Genetics Jun 2003, 40 (6) e74; DOI: 10.1136/jmg.40.6.e74
Physical and psychomotor development of 1799 children born after second trimester amniocentesis for maternal serum positive triple test screening and normal prenatal karyotype
I Witters, P Moerman, A Van Assche, J-P Fryns

Journal of Medical Genetics Dec 2002, 39 (12) e75; DOI: 10.1136/jmg.39.12.e75
Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes
C Bauters, M-C Vantyghem, E Leteurtre, M-F Odou, C Mouton, N Porchet, J-L Wemeau, C Proye, P Pigny

Journal of Medical Genetics Jun 2003, 40 (6) e75; DOI: 10.1136/jmg.40.6.e75
Laugier-Hunziker syndrome: an important differential diagnosis for Peutz-Jeghers syndrome
A K Lampe, P J Hampton, K Woodford-Richens, I Tomlinson, C M Lawrence, F S Douglas

Journal of Medical Genetics Jun 2003, 40 (6) e77; DOI: 10.1136/jmg.40.6.e77
A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation
D Genevieve, C Baumann, C Huber, L Faivre, D Sanlaville, C Bodemer, S Hadj-Rabia, A Assoumou, A Verloes, F Raqbi, A Munnich, V Cormier-Daire

Journal of Medical Genetics Jun 2004, 41 (6) e77; DOI: 10.1136/jmg.2003.013573
Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations
M Holder-Espinasse, F Escande, E Mayrargue, A Dieux-Coeslier, D Fron, A Doual-Bisser, O Boute-Benejean, Y Robert, N Porchet, S Manouvrier-Hanu

Journal of Medical Genetics Jun 2004, 41 (6) e78; DOI: 10.1136/jmg.2003.013904
A new case of exomphalos, short limbs, and macrogonadism syndrome
G VIOT, E PANNIER, L FAIVRE, J TANTAU, C FALLET-BIANCO, J M DUPONT, P JOUANNET, M C AUBRY, S LYONNET, D CABROL

Journal of Medical Genetics Mar 2001, 38 (3) e8; DOI: 10.1136/jmg.38.3.e8

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