J Med Genet -- Table of Contents (26 [12])

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December 1989 (Volume 26, Number 12). [Index by author]

		Correspondence Book Reviews Research Article

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Correspondence

Correspondence
Rodney Harris and Andrew P Read
J Med Genet 1989; 26: 796. doi:10.1136/jmg.26.12.796 [PDF] [Request Permissions]

Book Reviews

Vascular Birthmarks: Pathogenesis and Management
Peter A Farndon
J Med Genet 1989; 26: 797. doi:10.1136/jmg.26.12.797 [PDF] [Request Permissions]

Informative Morphogenetic Variants in the Newborn Infant
D Donnai
J Med Genet 1989; 26: 797. doi:10.1136/jmg.26.12.797-a [PDF] [Request Permissions]

Prader-Willi Syndrome: Selected Research and Management Issues
M Pembrey
J Med Genet 1989; 26: 797-798. doi:10.1136/jmg.26.12.797-b [PDF] [Request Permissions]

Genetics and Alzheimer's Disease
M J Owen
J Med Genet 1989; 26: 798-799. doi:10.1136/jmg.26.12.798 [PDF] [Request Permissions]

Practical Genetic Counselling
Rodney Harris
J Med Genet 1989; 26: 799. doi:10.1136/jmg.26.12.799 [PDF] [Request Permissions]

Advances in Human Genetics
J Sampson
J Med Genet 1989; 26: 799-800. doi:10.1136/jmg.26.12.799-a [PDF] [Request Permissions]

Twinning and Twins
R F Mueller
J Med Genet 1989; 26: 800. doi:10.1136/jmg.26.12.800 [PDF] [Request Permissions]

Research Article

Cystic fibrosis: after the gene.
A Harris and M Borrow
J Med Genet 1989; 26: 737-738. doi:10.1136/jmg.26.12.737 [PDF] [Request Permissions]

Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.
I J Holt, D H Miller, and A E Harding
J Med Genet 1989; 26: 739-743. doi:10.1136/jmg.26.12.739 [Abstract] [PDF] [Request Permissions]

Genetic studies on a new deficiency gene (PI*Ztun) at the PI locus.
D B Whitehouse, C M Abbott, J U Lovegrove, I McIntosh, C J McMahon, G Mieli-Vergani, A P Mowat, and D A Hopkinson
J Med Genet 1989; 26: 744-749. doi:10.1136/jmg.26.12.744 [Abstract] [PDF] [Request Permissions]

Presymptomatic detection and prenatal diagnosis for myotonic dystrophy by means of linked DNA markers.
A M Norman, J L Floyd, A L Meredith, and P S Harper
J Med Genet 1989; 26: 750-754. doi:10.1136/jmg.26.12.750 [Abstract] [PDF] [Request Permissions]

Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertainment bias.
P W Lunt, D A Compston, and P S Harper
J Med Genet 1989; 26: 755-760. doi:10.1136/jmg.26.12.755 [Abstract] [PDF] [Request Permissions]

A hungarian study on Werdnig-Hoffmann disease.
A Czeizel and J Hamula
J Med Genet 1989; 26: 761-763. doi:10.1136/jmg.26.12.761 [Abstract] [PDF] [Request Permissions]

Childhood deaths in Down's syndrome. Survival curves and causes of death from a total population study in Queensland, Australia, 1976 to 1985.
J A Bell, J H Pearn, and D Firman
J Med Genet 1989; 26: 764-768. doi:10.1136/jmg.26.12.764 [Abstract] [PDF] [Request Permissions]

Dystrophy: a revised definition.
M Warburg and H U Møller
J Med Genet 1989; 26: 769-771. doi:10.1136/jmg.26.12.769 [Abstract] [PDF] [Request Permissions]

Winchester's syndrome.
R M Winter
J Med Genet 1989; 26: 772-775. doi:10.1136/jmg.26.12.772 [PDF] [Request Permissions]

Del(4)(q33----qter): another case report of a child with mild dysmorphism.
K A Fagan and R B Morris
J Med Genet 1989; 26: 776-778. doi:10.1136/jmg.26.12.776 [Abstract] [PDF] [Request Permissions]

Features of Turner's and DiGeorge's syndromes in a child with an X;22 translocation.
M R Pinto, R P Leite, and A Areias
J Med Genet 1989; 26: 778-780. doi:10.1136/jmg.26.12.778 [Abstract] [PDF] [Request Permissions]

Discordant, non-syndromic, congenital diaphragmatic defects in sibs.
T I Farag, M A Issa, and E S Mahfouz
J Med Genet 1989; 26: 781-782. doi:10.1136/jmg.26.12.781 [Abstract] [PDF] [Request Permissions]

Porencephalic cyst in pycnodysostosis.
J Figueiredo, A Reis, R Vaz, M Leáo, and C Cruz
J Med Genet 1989; 26: 782-784. doi:10.1136/jmg.26.12.782 [Abstract] [PDF] [Request Permissions]

Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient.
D P Cavalcanti
J Med Genet 1989; 26: 785-786. doi:10.1136/jmg.26.12.785 [Abstract] [PDF] [Request Permissions]

Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis.
J Raine, R M Winter, A Davey, and S M Tucker
J Med Genet 1989; 26: 786-788. doi:10.1136/jmg.26.12.786 [Abstract] [PDF] [Request Permissions]

Unknown syndrome: pachygyria, joint contractures, and facial abnormalities.
R M Winter, B N Harding, and J Hyde
J Med Genet 1989; 26: 788-789. doi:10.1136/jmg.26.12.788 [Abstract] [PDF] [Request Permissions]

Misdiagnosed normal fetus owing to undetected germinal mosaicism for DMD deletion.
C Boileau and C Junien
J Med Genet 1989; 26: 790-791. doi:10.1136/jmg.26.12.790 [PDF] [Request Permissions]

Three different, non-mosaic sex chromosome abnormalities (direct cytotrophoblasts, mesenchymal core cultures, and abortus skin fibroblasts): implications for elucidating chorionic villi mosaicism.
L P Shulman, A T Tharapel, J L Simpson, C M Meyers, B Tucker, B Weisskopf, and S Elias
J Med Genet 1989; 26: 791-792. doi:10.1136/jmg.26.12.791 [PDF] [Request Permissions]

Association of 13q deletion and Hirschsprung's disease.
P Kiss and M Osztovics
J Med Genet 1989; 26: 793-794. doi:10.1136/jmg.26.12.793 [PDF] [Request Permissions]

Dominantly inherited cleft lip and palate.
A De Paepe
J Med Genet 1989; 26: 794. doi:10.1136/jmg.26.12.794 [PDF] [Request Permissions]

Are abortions more or less frequent once prenatal diagnosis is available?
S Bundey and E Boughton
J Med Genet 1989; 26: 794-796. doi:10.1136/jmg.26.12.794-a [PDF] [Request Permissions]

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	Correspondence Rodney Harris and Andrew P Read J Med Genet 1989; 26: 796. doi:10.1136/jmg.26.12.796 [PDF] [Request Permissions]

	Vascular Birthmarks: Pathogenesis and Management Peter A Farndon J Med Genet 1989; 26: 797. doi:10.1136/jmg.26.12.797 [PDF] [Request Permissions]

	Informative Morphogenetic Variants in the Newborn Infant D Donnai J Med Genet 1989; 26: 797. doi:10.1136/jmg.26.12.797-a [PDF] [Request Permissions]

	Prader-Willi Syndrome: Selected Research and Management Issues M Pembrey J Med Genet 1989; 26: 797-798. doi:10.1136/jmg.26.12.797-b [PDF] [Request Permissions]

	Genetics and Alzheimer's Disease M J Owen J Med Genet 1989; 26: 798-799. doi:10.1136/jmg.26.12.798 [PDF] [Request Permissions]

	Practical Genetic Counselling Rodney Harris J Med Genet 1989; 26: 799. doi:10.1136/jmg.26.12.799 [PDF] [Request Permissions]

	Advances in Human Genetics J Sampson J Med Genet 1989; 26: 799-800. doi:10.1136/jmg.26.12.799-a [PDF] [Request Permissions]

	Twinning and Twins R F Mueller J Med Genet 1989; 26: 800. doi:10.1136/jmg.26.12.800 [PDF] [Request Permissions]

	Cystic fibrosis: after the gene. A Harris and M Borrow J Med Genet 1989; 26: 737-738. doi:10.1136/jmg.26.12.737 [PDF] [Request Permissions]

	Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy. I J Holt, D H Miller, and A E Harding J Med Genet 1989; 26: 739-743. doi:10.1136/jmg.26.12.739 [Abstract] [PDF] [Request Permissions]

	*Genetic studies on a new deficiency gene (PIZtun) at the PI locus.** D B Whitehouse, C M Abbott, J U Lovegrove, I McIntosh, C J McMahon, G Mieli-Vergani, A P Mowat, and D A Hopkinson J Med Genet 1989; 26: 744-749. doi:10.1136/jmg.26.12.744 [Abstract] [PDF] [Request Permissions]

	Presymptomatic detection and prenatal diagnosis for myotonic dystrophy by means of linked DNA markers. A M Norman, J L Floyd, A L Meredith, and P S Harper J Med Genet 1989; 26: 750-754. doi:10.1136/jmg.26.12.750 [Abstract] [PDF] [Request Permissions]

	Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertainment bias. P W Lunt, D A Compston, and P S Harper J Med Genet 1989; 26: 755-760. doi:10.1136/jmg.26.12.755 [Abstract] [PDF] [Request Permissions]

	A hungarian study on Werdnig-Hoffmann disease. A Czeizel and J Hamula J Med Genet 1989; 26: 761-763. doi:10.1136/jmg.26.12.761 [Abstract] [PDF] [Request Permissions]

	Childhood deaths in Down's syndrome. Survival curves and causes of death from a total population study in Queensland, Australia, 1976 to 1985. J A Bell, J H Pearn, and D Firman J Med Genet 1989; 26: 764-768. doi:10.1136/jmg.26.12.764 [Abstract] [PDF] [Request Permissions]

	Dystrophy: a revised definition. M Warburg and H U Møller J Med Genet 1989; 26: 769-771. doi:10.1136/jmg.26.12.769 [Abstract] [PDF] [Request Permissions]

	Winchester's syndrome. R M Winter J Med Genet 1989; 26: 772-775. doi:10.1136/jmg.26.12.772 [PDF] [Request Permissions]

	Del(4)(q33----qter): another case report of a child with mild dysmorphism. K A Fagan and R B Morris J Med Genet 1989; 26: 776-778. doi:10.1136/jmg.26.12.776 [Abstract] [PDF] [Request Permissions]

	Features of Turner's and DiGeorge's syndromes in a child with an X;22 translocation. M R Pinto, R P Leite, and A Areias J Med Genet 1989; 26: 778-780. doi:10.1136/jmg.26.12.778 [Abstract] [PDF] [Request Permissions]

	Discordant, non-syndromic, congenital diaphragmatic defects in sibs. T I Farag, M A Issa, and E S Mahfouz J Med Genet 1989; 26: 781-782. doi:10.1136/jmg.26.12.781 [Abstract] [PDF] [Request Permissions]

	Porencephalic cyst in pycnodysostosis. J Figueiredo, A Reis, R Vaz, M Leáo, and C Cruz J Med Genet 1989; 26: 782-784. doi:10.1136/jmg.26.12.782 [Abstract] [PDF] [Request Permissions]

	Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient. D P Cavalcanti J Med Genet 1989; 26: 785-786. doi:10.1136/jmg.26.12.785 [Abstract] [PDF] [Request Permissions]

	Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis. J Raine, R M Winter, A Davey, and S M Tucker J Med Genet 1989; 26: 786-788. doi:10.1136/jmg.26.12.786 [Abstract] [PDF] [Request Permissions]

	Unknown syndrome: pachygyria, joint contractures, and facial abnormalities. R M Winter, B N Harding, and J Hyde J Med Genet 1989; 26: 788-789. doi:10.1136/jmg.26.12.788 [Abstract] [PDF] [Request Permissions]

	Misdiagnosed normal fetus owing to undetected germinal mosaicism for DMD deletion. C Boileau and C Junien J Med Genet 1989; 26: 790-791. doi:10.1136/jmg.26.12.790 [PDF] [Request Permissions]

	Three different, non-mosaic sex chromosome abnormalities (direct cytotrophoblasts, mesenchymal core cultures, and abortus skin fibroblasts): implications for elucidating chorionic villi mosaicism. L P Shulman, A T Tharapel, J L Simpson, C M Meyers, B Tucker, B Weisskopf, and S Elias J Med Genet 1989; 26: 791-792. doi:10.1136/jmg.26.12.791 [PDF] [Request Permissions]

	Association of 13q deletion and Hirschsprung's disease. P Kiss and M Osztovics J Med Genet 1989; 26: 793-794. doi:10.1136/jmg.26.12.793 [PDF] [Request Permissions]

	Dominantly inherited cleft lip and palate. A De Paepe J Med Genet 1989; 26: 794. doi:10.1136/jmg.26.12.794 [PDF] [Request Permissions]

	Are abortions more or less frequent once prenatal diagnosis is available? S Bundey and E Boughton J Med Genet 1989; 26: 794-796. doi:10.1136/jmg.26.12.794-a [PDF] [Request Permissions]