Journal of Medical Genetics: 36 (8)

Review article

Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome (1 August, 1999)
William Reardon, Rebecca Coffey, Tanzina Chowdhury, Ashley Grossman, Hikmat Jan, Keith Britton, Pat Kendall-Taylor, Richard Trembath
Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes (1 August, 1999)
Albert David, Pierre Bitoun, Didier Lacombe, Jean-Claude Lambert, Annie Nivelon, Jacqueline Vigneron, Alain Verloes
Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype (1 August, 1999)
E K Bijlsma, C M Aalfs, S Sluijter, M E M Oude Luttikhuis, R C Trembath, J M N Hoovers, R C M Hennekam
Mutational analysis of the N-ras,p53,p16^INK4a ,CDK4, and MC1R genes in human congenital melanocytic naevi
(1 August, 1999)
Thilo Papp, Heidi Pemsel, Regina Zimmermann, Ralf Bastrop, Dieter G Weiss, Dietmar Schiffmann
Carrier testing of children for two X linked diseases in a family based setting: a retrospective long term psychosocial evaluation (1 August, 1999)
Outi Järvinen, Anna-Mari Aalto, Anna-Elina Lehesjoki, Mikael Lindlöf, Ismo Söderling, Antti Uutela, Helena Kääriäinen

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation
(1 August, 1999)
Andrea Superti-Furga, Luitgard Neumann, Thomas Riebel, Georg Eich, Beat Steinmann, Jürgen Spranger, Jürgen Kunze
Simultaneous occurrence of two supernumerary autosomal ring chromosomes r(1) and r(16) in twins (1 August, 1999)
Alan L Shanske, Patricia Dowling, Rina Schmidt, Beverly J White, Barbara Russell, Anna Bogdanow, Robert W Marion
Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30 (1 August, 1999)
Miguel Munar-Qués, Jorge L Pedrosa, Teresa Coelho, Leonor Gusmão, Raquel Seruca, António Amorim, Jorge Sequeiros
Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2) (1 August, 1999)
Rick A Martin, Darrin W Sabol, Peter K Rogan
Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome? (1 August, 1999)
A Mégarbané, R Choueiri, J Bleik, M Mezzina, C Caillaud
A syndrome of immune complex glomerulonephritis and ophthalmic abnormalities (1 August, 1999)
Iradj Amirlak, Sharda G Sabnis, Lihadh Al-Gazali, Yousef M Abdulrazzaq

Sequence analysis of the homogentisate 1,2 dioxygenase gene in a family affected by alkaptonuria (1 August, 1999)
K WALTER, A GAA, H E SCHAEFER, A ROERS
A new family linked to the RP1 dominant retinitis pigmentosa locus on chromosome 8q
(1 August, 1999)
CHRIS F INGLEHEARN, JOHN C McHALE, T JEFFERY KEEN, HEATHER SKIRTON, PETER W LUNT
21-hydroxylase deficiency in Italy: a distinct distribution pattern ofCYP21 mutations in a sample from southern Italy
(1 August, 1999)
A BOBBA, E MARRA, S GIANNATTASIO, A IOLASCON, F MONNO, S DI MAIO
Identification of a frameshift mutation in the gene TWISTin a family affected with Robinow-Sorauf syndrome
(1 August, 1999)
JÜRGEN KUNZ, MELANIE HUDLER, BARBARA FRITZ, GABRIELE GILLESSEN-KAESBACH, EBERHARD PASSARGE
Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndrome (1 August, 1999)
JEAN-MICHEL DUPONT, DOMINIQUE LE TESSIER, DIDIER RABINEAU, LAURENCE CUISSET, CHRISTIAN VASSEUR, MARC JEANPIERRE, MARC DELPECH, FLORENCE PINTON, GÉRARD PONSOT, MARIE-F DENAVIT