JMG Online mutation reports

Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India
M RamShankar, S Girirajan, O Dagan, H M Ravi Shankar, R Jalvi, R Rangasayee, K B Avraham, A Anand

Journal of Medical Genetics May 2003, 40 (5) e68; DOI: 10.1136/jmg.40.5.e68
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome
A Sarkozy, E Conti, M Cristina Digilio, B Marino, E Morini, G Pacileo, M Wilson, R Calabrò, A Pizzuti, B Dallapiccola

Journal of Medical Genetics May 2004, 41 (5) e68; DOI: 10.1136/jmg.2003.013466
Neuroferritinopathy in a French family with late onset dominant dystonia
P F Chinnery, A R J Curtis, C Fey, A Coulthard, D Crompton, A Curtis, A Lombés, J Burn

Journal of Medical Genetics May 2003, 40 (5) e69; DOI: 10.1136/jmg.40.5.e69
Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis
P S Roberts, S Dabora, E A Thiele, D N Franz, S Jozwiak, D J Kwiatkowski

Journal of Medical Genetics May 2004, 41 (5) e69; DOI: 10.1136/jmg.2003.014126
The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene
H Jacquet, J Berthelot, C Bonnemains, G Simard, P Saugier-Veber, G Raux, D Campion, D Bonneau, T Frebourg

Journal of Medical Genetics Jan 2003, 40 (1) e7; DOI: 10.1136/jmg.40.1.e7
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy
D Marchant, K Yu, K Bigot, O Roche, A Germain, D Bonneau, V Drouin-Garraud, D F Schorderet, F Munier, D Schmidt, P Le Neindre, C Marsac, M Menasche, J L Dufier, R Fischmeister, C Hartzell, M Abitbol

Journal of Medical Genetics Mar 2007, 44 (3) e70; DOI: 10.1136/jmg.2006.044511
ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy
R Müllenbach, K J Linton, S Wiltshire, N Weerasekera, J Chambers, E Elias, C F Higgins, D G Johnston, M I McCarthy, C Williamson

Journal of Medical Genetics May 2003, 40 (5) e70; DOI: 10.1136/jmg.40.5.e70
A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia
E Miraglia Del Giudice, G Coppola, G Bellini, P Ledaal, J M Hertz, A Pascotto

Journal of Medical Genetics May 2003, 40 (5) e71; DOI: 10.1136/jmg.40.5.e71
Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients
A Cebrián, S Ruiz-Llorente, A Cascón, M Pollán, J J Díez, A Picó, D Tellería, J Benítez, M Robledo

Journal of Medical Genetics May 2003, 40 (5) e72; DOI: 10.1136/jmg.40.5.e72
Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients
M P Reboul, E Bieth, M Fayon, N Biteau, R Barbier, C Dromer, M Desgeorges, M Claustres, F Bremont, D Lacombe, A Iron

Journal of Medical Genetics Nov 2002, 39 (11) e73; DOI: 10.1136/jmg.39.11.e73

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