Journal of Medical Genetics: 42 (5)

Correspondence

Is maternal duplication of 11p15 associated with Silver-Russell syndrome? (29 April, 2005)
T Eggermann, E Meyer, C Obermann, I Heil, H Schüler, M B Ranke, K Eggermann, H A Wollmann

BRCA1:185delAG found in the San Luis Valley probably originated in a Jewish founder (29 April, 2005)
I Makriyianni, N Hamel, S Ward, W D Foulkes, S Graw
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency
(29 April, 2005)
M Bugiani, V Tiranti, L Farina, G Uziel, M Zeviani
Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy (29 April, 2005)
T Rossenbacker, E Schollen, C Kuipéri, T J L de Ravel, K Devriendt, G Matthijs, D Collen, H Heidbüchel, P Carmeliet
Search for genetic variants associated with cutaneous malignant melanoma in the Ashkenazi Jewish population (29 April, 2005)
J C Y Loo, A D Paterson, A Hao, M Shennan, H Peretz, Y Sidi, D Hogg, E Yakobson
Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families
(29 April, 2005)
A M Woodward, T A Davis, A G S Silva, J A Kirk, J A Leary
GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart (29 April, 2005)
S M Reamon-Buettner, J Borlak

Genetics of the polymicrogyria syndromes (29 April, 2005)
A Jansen, E Andermann
Genetics of congenital hypothyroidism (29 April, 2005) Free
S M Park, V K K Chatterjee

Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases? (29 April, 2005)
E Cadet, D Capron, M Gallet, M-L Omanga-Léké, H Boutignon, C Julier, K J H Robson, J Rochette
Angiotensin II type I receptor gene polymorphism: anthropometric and metabolic syndrome traits (29 April, 2005) Free
M R Abdollahi, T R Gaunt, H E Syddall, C Cooper, D I W Phillips, S Ye, I N M Day
Evidence of an association between genetic variation of the coactivator PGC-1β and obesity (29 April, 2005)
G Andersen, L Wegner, K Yanagisawa, C S Rose, J Lin, C Glümer, T Drivsholm, K Borch-Johnsen, T Jørgensen, T Hansen, B M Spiegelman, O Pedersen

Variability of sexual phenotype in 46,XX(SRY+) patients: the influence of spreading X inactivation versus position effects
(29 April, 2005)
A Sharp, K Kusz, J Jaruzelska, W Tapper, M Szarras-Czapnik, J Wolski, P Jacobs
STK11 genotyping and cancer risk in Peutz-Jeghers syndrome
(29 April, 2005)
V Schumacher, T Vogel, B Leube, C Driemel, T Goecke, G Möslein, B Royer-Pokora
Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa
(29 April, 2005)
S Khaliq, A Abid, M Ismail, A Hameed, A Mohyuddin, P Lall, A Aziz, K Anwar, S Q Mehdi
Protective and susceptibility effects of hSKCa3 allelic variants on juvenile myoclonic epilepsy
(29 April, 2005)
J Vijai, A Kapoor, H M Ravishankar, P J Cherian, G Kuruttukulam, B Rajendran, R Sridharan, G Rangan, A S Girija, S Jayalakshmi, S Mohandas, K S Mani, K Radhakrishnan, A Anand
Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism (29 April, 2005)
L Baumber, C Tufarelli, S Patel, P King, C A Johnson, E R Maher, R C Trembath