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August 1999 (Volume 36, Number 8). [Index by author]

		Review articles Original articles Short reports Letters to the editor Book reviews Miscellaneous

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Review articles

Genetics of bipolar disorder
Nick Craddock and Ian Jones
J Med Genet 1999; 36: 585-594. doi:10.1136/jmg.36.8.585 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome
William Reardon, Rebecca Coffey, Tanzina Chowdhury, Ashley Grossman, Hikmat Jan, Keith Britton, Pat Kendall-Taylor, and Richard Trembath
J Med Genet 1999; 36: 595-598. doi:10.1136/jmg.36.8.595 [Abstract] [Full text] [PDF] [Request Permissions]

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes
Albert David, Pierre Bitoun, Didier Lacombe, Jean-Claude Lambert, Annie Nivelon, Jacqueline Vigneron, and Alain Verloes
J Med Genet 1999; 36: 599-603. doi:10.1136/jmg.36.8.599 [Abstract] [Full text] [PDF] [Request Permissions]

Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype
E K Bijlsma, C M Aalfs, S Sluijter, M E M Oude Luttikhuis, R C Trembath, J M N Hoovers, and R C M Hennekam
J Med Genet 1999; 36: 604-609. doi:10.1136/jmg.36.8.604 [Abstract] [Full text] [PDF] [Request Permissions]

Mutational analysis of the N-ras, p53, p16^INK4a, CDK4, and MC1R genes in human congenital melanocytic naevi
Thilo Papp, Heidi Pemsel, Regina Zimmermann, Ralf Bastrop, Dieter G Weiss, and Dietmar Schiffmann
J Med Genet 1999; 36: 610-614. doi:10.1136/jmg.36.8.610 [Abstract] [Full text] [PDF] [Request Permissions]

Carrier testing of children for two X linked diseases in a family based setting: a retrospective long term psychosocial evaluation
Outi Järvinen, Anna-Mari Aalto, Anna-Elina Lehesjoki, Mikael Lindlöf, Ismo Söderling, Antti Uutela, and Helena Kääriäinen
J Med Genet 1999; 36: 615-620. doi:10.1136/jmg.36.8.615 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation
Andrea Superti-Furga, Luitgard Neumann, Thomas Riebel, Georg Eich, Beat Steinmann, Jürgen Spranger, and Jürgen Kunze
J Med Genet 1999; 36: 621-624. doi:10.1136/jmg.36.8.621 [Abstract] [Full text] [PDF] [Request Permissions]

Simultaneous occurrence of two supernumerary autosomal ring chromosomes r(1) and r(16) in twins
Alan L Shanske, Patricia Dowling, Rina Schmidt, Beverly J White, Barbara Russell, Anna Bogdanow, and Robert W Marion
J Med Genet 1999; 36: 625-628. doi:10.1136/jmg.36.8.625 [Abstract] [Full text] [PDF] [Request Permissions]

Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30
Miguel Munar-Qués, Jorge L Pedrosa, Teresa Coelho, Leonor Gusmão, Raquel Seruca, António Amorim, and Jorge Sequeiros
J Med Genet 1999; 36: 629-632. doi:10.1136/jmg.36.8.629 [Abstract] [Full text] [PDF] [Request Permissions]

Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2)
Rick A Martin, Darrin W Sabol, and Peter K Rogan
J Med Genet 1999; 36: 633-636. doi:10.1136/jmg.36.8.633 [Abstract] [Full text] [PDF] [Request Permissions]

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?
A Mégarbané, R Choueiri, J Bleik, M Mezzina, and C Caillaud
J Med Genet 1999; 36: 637-640. doi:10.1136/jmg.36.8.637 [Abstract] [Full text] [PDF] [Request Permissions]

A syndrome of immune complex glomerulonephritis and ophthalmic abnormalities
Iradj Amirlak, Sharda G Sabnis, Lihadh Al-Gazali, and Yousef M Abdulrazzaq
J Med Genet 1999; 36: 641-644. doi:10.1136/jmg.36.8.641 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

Sequence analysis of the homogentisate 1,2 dioxygenase gene in a family affected by alkaptonuria
K WALTER, A GAA, H E SCHAEFER, and A ROERS
J Med Genet 1999; 36: 645-646. doi:10.1136/jmg.36.8.645 [Extract] [Full text] [PDF] [Request Permissions]

A new family linked to the RP1 dominant retinitis pigmentosa locus on chromosome 8q
CHRIS F INGLEHEARN, JOHN C McHALE, T JEFFERY KEEN, HEATHER SKIRTON, and PETER W LUNT
J Med Genet 1999; 36: 646-648. doi:10.1136/jmg.36.8.646 [Extract] [Full text] [Request Permissions]

21-hydroxylase deficiency in Italy: a distinct distribution pattern of CYP21 mutations in a sample from southern Italy
A BOBBA, E MARRA, S GIANNATTASIO, A IOLASCON, F MONNO, and S DI MAIO
J Med Genet 1999; 36: 648-650. doi:10.1136/jmg.36.8.648 [Extract] [Full text] [Request Permissions]

Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome
JÜRGEN KUNZ, MELANIE HUDLER, BARBARA FRITZ, GABRIELE GILLESSEN-KAESBACH, and EBERHARD PASSARGE
J Med Genet 1999; 36: 650-652. doi:10.1136/jmg.36.8.650 [Extract] [Full text] [Request Permissions]

Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndrome
JEAN-MICHEL DUPONT, DOMINIQUE LE TESSIER, DIDIER RABINEAU, LAURENCE CUISSET, CHRISTIAN VASSEUR, MARC JEANPIERRE, MARC DELPECH, FLORENCE PINTON, GÉRARD PONSOT, and MARIE-F DENAVIT
J Med Genet 1999; 36: 652-654. doi:10.1136/jmg.36.8.652 [Extract] [Full text] [Request Permissions]

Book reviews

Genetic Disorders and the Fetus. Diagnosis, Prevention and Treatment
ANGELA BARNICOAT
J Med Genet 1999; 36: 655. doi:10.1136/jmg.36.8.655 [Extract] [Full text] [PDF] [Request Permissions]

Miscellaneous

Correction
J Med Genet 1999; 36: 652a. doi:10.1136/jmg.36.8.652a [Extract] [Full text] [Request Permissions]

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	Genetics of bipolar disorder Nick Craddock and Ian Jones J Med Genet 1999; 36: 585-594. doi:10.1136/jmg.36.8.585 [Abstract] [Full text] [PDF] [Request Permissions]

	Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome William Reardon, Rebecca Coffey, Tanzina Chowdhury, Ashley Grossman, Hikmat Jan, Keith Britton, Pat Kendall-Taylor, and Richard Trembath J Med Genet 1999; 36: 595-598. doi:10.1136/jmg.36.8.595 [Abstract] [Full text] [PDF] [Request Permissions]

	Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes Albert David, Pierre Bitoun, Didier Lacombe, Jean-Claude Lambert, Annie Nivelon, Jacqueline Vigneron, and Alain Verloes J Med Genet 1999; 36: 599-603. doi:10.1136/jmg.36.8.599 [Abstract] [Full text] [PDF] [Request Permissions]

	Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype E K Bijlsma, C M Aalfs, S Sluijter, M E M Oude Luttikhuis, R C Trembath, J M N Hoovers, and R C M Hennekam J Med Genet 1999; 36: 604-609. doi:10.1136/jmg.36.8.604 [Abstract] [Full text] [PDF] [Request Permissions]

	*Mutational analysis of the N-ras, p53, p16^INK4a, CDK4, and MC1R* genes in human congenital melanocytic naevi** Thilo Papp, Heidi Pemsel, Regina Zimmermann, Ralf Bastrop, Dieter G Weiss, and Dietmar Schiffmann J Med Genet 1999; 36: 610-614. doi:10.1136/jmg.36.8.610 [Abstract] [Full text] [PDF] [Request Permissions]

	Carrier testing of children for two X linked diseases in a family based setting: a retrospective long term psychosocial evaluation Outi Järvinen, Anna-Mari Aalto, Anna-Elina Lehesjoki, Mikael Lindlöf, Ismo Söderling, Antti Uutela, and Helena Kääriäinen J Med Genet 1999; 36: 615-620. doi:10.1136/jmg.36.8.615 [Abstract] [Full text] [PDF] [Request Permissions]

	*Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST* mutation** Andrea Superti-Furga, Luitgard Neumann, Thomas Riebel, Georg Eich, Beat Steinmann, Jürgen Spranger, and Jürgen Kunze J Med Genet 1999; 36: 621-624. doi:10.1136/jmg.36.8.621 [Abstract] [Full text] [PDF] [Request Permissions]

	Simultaneous occurrence of two supernumerary autosomal ring chromosomes r(1) and r(16) in twins Alan L Shanske, Patricia Dowling, Rina Schmidt, Beverly J White, Barbara Russell, Anna Bogdanow, and Robert W Marion J Med Genet 1999; 36: 625-628. doi:10.1136/jmg.36.8.625 [Abstract] [Full text] [PDF] [Request Permissions]

	Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30 Miguel Munar-Qués, Jorge L Pedrosa, Teresa Coelho, Leonor Gusmão, Raquel Seruca, António Amorim, and Jorge Sequeiros J Med Genet 1999; 36: 629-632. doi:10.1136/jmg.36.8.629 [Abstract] [Full text] [PDF] [Request Permissions]

	Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2) Rick A Martin, Darrin W Sabol, and Peter K Rogan J Med Genet 1999; 36: 633-636. doi:10.1136/jmg.36.8.633 [Abstract] [Full text] [PDF] [Request Permissions]

	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? A Mégarbané, R Choueiri, J Bleik, M Mezzina, and C Caillaud J Med Genet 1999; 36: 637-640. doi:10.1136/jmg.36.8.637 [Abstract] [Full text] [PDF] [Request Permissions]

	A syndrome of immune complex glomerulonephritis and ophthalmic abnormalities Iradj Amirlak, Sharda G Sabnis, Lihadh Al-Gazali, and Yousef M Abdulrazzaq J Med Genet 1999; 36: 641-644. doi:10.1136/jmg.36.8.641 [Abstract] [Full text] [PDF] [Request Permissions]

	Sequence analysis of the homogentisate 1,2 dioxygenase gene in a family affected by alkaptonuria K WALTER, A GAA, H E SCHAEFER, and A ROERS J Med Genet 1999; 36: 645-646. doi:10.1136/jmg.36.8.645 [Extract] [Full text] [PDF] [Request Permissions]

	*A new family linked to the RP1* dominant retinitis pigmentosa locus on chromosome 8q** CHRIS F INGLEHEARN, JOHN C McHALE, T JEFFERY KEEN, HEATHER SKIRTON, and PETER W LUNT J Med Genet 1999; 36: 646-648. doi:10.1136/jmg.36.8.646 [Extract] [Full text] [Request Permissions]

	*21-hydroxylase deficiency in Italy: a distinct distribution pattern of CYP21* mutations in a sample from southern Italy** A BOBBA, E MARRA, S GIANNATTASIO, A IOLASCON, F MONNO, and S DI MAIO J Med Genet 1999; 36: 648-650. doi:10.1136/jmg.36.8.648 [Extract] [Full text] [Request Permissions]

	*Identification of a frameshift mutation in the gene TWIST* in a family affected with Robinow-Sorauf syndrome** JÜRGEN KUNZ, MELANIE HUDLER, BARBARA FRITZ, GABRIELE GILLESSEN-KAESBACH, and EBERHARD PASSARGE J Med Genet 1999; 36: 650-652. doi:10.1136/jmg.36.8.650 [Extract] [Full text] [Request Permissions]

	Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndrome JEAN-MICHEL DUPONT, DOMINIQUE LE TESSIER, DIDIER RABINEAU, LAURENCE CUISSET, CHRISTIAN VASSEUR, MARC JEANPIERRE, MARC DELPECH, FLORENCE PINTON, GÉRARD PONSOT, and MARIE-F DENAVIT J Med Genet 1999; 36: 652-654. doi:10.1136/jmg.36.8.652 [Extract] [Full text] [Request Permissions]

	Genetic Disorders and the Fetus. Diagnosis, Prevention and Treatment ANGELA BARNICOAT J Med Genet 1999; 36: 655. doi:10.1136/jmg.36.8.655 [Extract] [Full text] [PDF] [Request Permissions]

	Correction J Med Genet 1999; 36: 652a. doi:10.1136/jmg.36.8.652a [Extract] [Full text] [Request Permissions]