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A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy
C Gendrot, Y Bacq, M-C Brechot, J Lansac, C Andres

Journal of Medical Genetics Mar 2003, 40 (3) e32; DOI: 10.1136/jmg.40.3.e32
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome
I M Van Langen, E Birnie, M Alders, R J Jongbloed, H Le Marec, A A M Wilde

Journal of Medical Genetics Feb 2003, 40 (2) 141-145; DOI: 10.1136/jmg.40.2.141
A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype
D Efron, M B Delatycki, M G de Silva, A Langbein, W Slaghuis, A Larson, H-H M Dahl, S M Forrest

Journal of Medical Genetics Feb 2003, 40 (2) e15; DOI: 10.1136/jmg.40.2.e15
Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene
R Varga, P M Kelley, B J Keats, A Starr, S M Leal, E Cohn, W J Kimberling

Journal of Medical Genetics Jan 2003, 40 (1) 45-50; DOI: 10.1136/jmg.40.1.45
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W
D Ballhausen, L Bonafé, P Terhal, S L Unger, G Bellus, M Classen, B C Hamel, J Spranger, B Zabel, D H Cohn, W G Cole, J T Hecht, A Superti-Furga

Journal of Medical Genetics Jan 2003, 40 (1) 65-71; DOI: 10.1136/jmg.40.1.65
β₁-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome
H De Leersnyder, J L Bresson, M-C de Blois, J-C Souberbielle, A Mogenet, B Delhotal-Landes, F Salefranque, A Munnich

Journal of Medical Genetics Jan 2003, 40 (1) 74-78; DOI: 10.1136/jmg.40.1.74
Early onset asymmetrical intrauterine growth retardation with fetal hypokinesia and variable expression of acral and genitourinary malformations: a new lethal MCA syndrome
I Witters, P Moerman, F A Van Assche, J-P Fryns

Journal of Medical Genetics Jan 2003, 40 (1) e1; DOI: 10.1136/jmg.40.1.e1
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation
S Bernal, C Ayuso, G Antiñolo, A Gimenez, S Borrego, M J Trujillo, I Marcos, M Calaf, E Del Rio, M Baiget

Journal of Medical Genetics Jan 2003, 40 (1) e8; DOI: 10.1136/jmg.40.1.e8
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients
R Sitorus, S M Ardjo, B Lorenz, M Preising

Journal of Medical Genetics Jan 2003, 40 (1) e9; DOI: 10.1136/jmg.40.1.e9
Longevity in Schimke immuno-osseous dysplasia
S Lou, P Lamfers, N McGuire, C F Boerkoel

Journal of Medical Genetics Dec 2002, 39 (12) 922-925; DOI: 10.1136/jmg.39.12.922

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