Dermatology

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
CYS127S (FH-Kairouan) and D245N (FH-Tozeur) mutations in the LDL receptor gene in Tunisian families with familial hypercholesterolaemia
M N Slimane, S Lestavel, V Clavey, F Maatouk, M H Ben Fahrat, J C Fruchart, M Hammami, P Benlian

Journal of Medical Genetics Nov 2002, 39 (11) e74; DOI: 10.1136/jmg.39.11.e74
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
Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree
A Starling, P Rocco, M R Passos-Bueno, J Hazan, S K Marie, M Zatz

Journal of Medical Genetics Dec 2002, 39 (12) e77; DOI: 10.1136/jmg.39.12.e77
PRKAR1A, one of the Carney complex genes, and its locus (17q22-24) are rarely altered in pituitary tumours outside the Carney complex
F Sandrini, L S Kirschner, T Bei, C Farmakidis, J Yasufuku-Takano, K Takano, T R Prezant, S J Marx, W E Farrell, R N Clayton, L Groussin, J Bertherat, C A Stratakis

Journal of Medical Genetics Dec 2002, 39 (12) e78; DOI: 10.1136/jmg.39.12.e78
Alström syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs
URS ZUMSTEG, PATRICK Y MULLER, ANDRÉ R MISEREZ

Journal of Medical Genetics Jul 2000, 37 (7) e8; DOI: 10.1136/jmg.37.7.e8
A case of Costello syndrome and glycogen storage disease type III
M Kaji, K Kurokawa, T Hasegawa, K Oguro, A Saito, T Fukuda, M Ito, H Sugie

Journal of Medical Genetics Feb 2002, 39 (2) e8; DOI: 10.1136/jmg.39.2.e8
Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA^Ser(UCN) gene
F J del Castillo, M Villamar, M A Moreno-Pelayo, J J Almela, C Morera, I Adiego, F Moreno, I del Castillo

Journal of Medical Genetics Dec 2002, 39 (12) e82; DOI: 10.1136/jmg.39.12.e82
P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome
N A Garrison, Z Yi, O Cohen-Barak, M Huizing, L M Hartnell, W A Gahl, M H Brilliant

Journal of Medical Genetics Jun 2004, 41 (6) e86; DOI: 10.1136/jmg.2003.014902

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