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February 1997 (Volume 34, Number 2). [Index by author]

		Abstracts Book Reviews Letters to the Editor Research Article

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Abstracts

Medical genetics: advances in brief: Effect of detailed fetal echocardiography as part of routine prenatal ultrasonographic screening on detection of congenital heart disease
Angela Barnicoat
J Med Genet 1997; 34: 173. doi:10.1136/jmg.34.2.173 [PDF] [Request Permissions]

Medical genetics: advances in brief: Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis
Angela Barnicoat
J Med Genet 1997; 34: 173. doi:10.1136/jmg.34.2.173-a [PDF] [Request Permissions]

Book Reviews

An Introduction to Recombinant DNA in Medicine
Fiona Norwood
J Med Genet 1997; 34: 176. doi:10.1136/jmg.34.2.176 [PDF] [Request Permissions]

Neurology of Hereditary Metabolic Disorders of Children
Michael Baraitser
J Med Genet 1997; 34: 176. doi:10.1136/jmg.34.2.176-a [PDF] [Request Permissions]

Human Molecular Genetics
Dorothy Trump
J Med Genet 1997; 34: 176. doi:10.1136/jmg.34.2.176-b [PDF] [Request Permissions]

Letters to the Editor

Letters to the Editor
J Med Genet 1997; 34: 174-175. doi:10.1136/jmg.34.2.174-a [PDF] [Request Permissions]

Research Article

Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W.
G Antiñolo, S Borrego, M Gili, J Dapena, I Alfageme, and F Reina
J Med Genet 1997; 34: 89-91. doi:10.1136/jmg.34.2.89 [Abstract] [PDF] [Request Permissions]

Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.
P L Beales, A M Warner, G A Hitman, R Thakker, and F A Flinter
J Med Genet 1997; 34: 92-98. doi:10.1136/jmg.34.2.92 [Abstract] [PDF] [Request Permissions]

Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.
I S Naom, M D'Alessandro, H Topaloglu, C Sewry, A Ferlini, A Helbling-Leclerc, P Guicheney, J Weissenbach, K Schwartz, K Bushby, J Philpot, V Dubowitz, and F Muntoni
J Med Genet 1997; 34: 99-104. doi:10.1136/jmg.34.2.99 [Abstract] [PDF] [Request Permissions]

Fucosidosis: genetic and biochemical analysis of eight cases.
H Cragg, M Williamson, E Young, J O'Brien, J Alhadeff, S Fang-Kircher, E Paschke, and B Winchester
J Med Genet 1997; 34: 105-110. doi:10.1136/jmg.34.2.105 [Abstract] [PDF] [Request Permissions]

Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394.
I N Day, L Haddad, S D O'Dell, L B Day, R A Whittall, and S E Humphries
J Med Genet 1997; 34: 111-116. doi:10.1136/jmg.34.2.111 [Abstract] [PDF] [Request Permissions]

Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q.
M Votruba, A T Moore, and S S Bhattacharya
J Med Genet 1997; 34: 117-121. doi:10.1136/jmg.34.2.117 [Abstract] [PDF] [Request Permissions]

Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I.
M C Rosatelli, A Meloni, V Faa, L Saba, G Crisponi, M G Clemente, G Meloni, M T Piga, and A Cao
J Med Genet 1997; 34: 122-125. doi:10.1136/jmg.34.2.122 [Abstract] [PDF] [Request Permissions]

Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage.
E Gausden, B Coyle, J A Armour, R Coffey, A Grossman, G R Fraser, R M Winter, M E Pembrey, P Kendall-Taylor, D Stephens, L M Luxon, P D Phelps, W Reardon, and R Trembath
J Med Genet 1997; 34: 126-129. doi:10.1136/jmg.34.2.126 [Abstract] [PDF] [Request Permissions]

Exclusion of CAG repeat expansion as the cause of disease in autosomal dominant retinitis pigmentosa families.
T J Keen, A G Morris, and C F Inglehearn
J Med Genet 1997; 34: 130-132. doi:10.1136/jmg.34.2.130 [Abstract] [PDF] [Request Permissions]

Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis.
L C Wilson, M E Oude Luttikhuis, M Baraitser, H M Kingston, and R C Trembath
J Med Genet 1997; 34: 133-136. doi:10.1136/jmg.34.2.133 [Abstract] [PDF] [Request Permissions]

Germline and somatic mosaicism in a female carrier of Hunter disease.
R Froissart, I Maire, V Bonnet, T Levade, and D Bozon
J Med Genet 1997; 34: 137-140. doi:10.1136/jmg.34.2.137 [Abstract] [PDF] [Request Permissions]

The role and practice of the genetic nurse: report of the AGNC Working Party.
H Skirton, C Barnes, G Curtis, and J Walford-Moore
J Med Genet 1997; 34: 141-147. doi:10.1136/jmg.34.2.141 [Abstract] [PDF] [Request Permissions]

Haemochromatosis: a gene at last?
K J Robson, J D Shearman, A T Merryweather-Clarke, J J Pointon, W M Rosenberg, A P Walker, J S Dooley, A Bomford, R Raha-Chowdhury, and M Worwood
J Med Genet 1997; 34: 148-151. doi:10.1136/jmg.34.2.148 [PDF] [Request Permissions]

Alagille syndrome.
I D Krantz, D A Piccoli, and N B Spinner
J Med Genet 1997; 34: 152-157. doi:10.1136/jmg.34.2.152 [Abstract] [PDF] [Request Permissions]

Androgen insensitivity with mental retardation: a contiguous gene syndrome?
H R Davies, I A Hughes, M O Savage, C A Quigley, M Trifiro, L Pinsky, T R Brown, and M N Patterson
J Med Genet 1997; 34: 158-160. doi:10.1136/jmg.34.2.158 [Abstract] [PDF] [Request Permissions]

Functional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito.
L S Correa-Cerro, H Rivera, and A I Vasquez
J Med Genet 1997; 34: 161-163. doi:10.1136/jmg.34.2.161 [Abstract] [PDF] [Request Permissions]

Familial complex chromosome rearrangement ascertained by in situ hybridisation.
C Fuster, L Miguez, R Miró, M A Rigola, A Perez, and J Egozcue
J Med Genet 1997; 34: 164-166. doi:10.1136/jmg.34.2.164 [Abstract] [PDF] [Request Permissions]

Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes.
M L Whiteford, A Narendra, M P White, A Cooke, A G Wilkinson, K J Robertson, and J L Tolmie
J Med Genet 1997; 34: 167-168. doi:10.1136/jmg.34.2.167 [Abstract] [PDF] [Request Permissions]

Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity.
A Pandya, X Xia, J Radnaabazar, J Batsuuri, B Dangaansuren, N Fischel-Ghodsian, and W E Nance
J Med Genet 1997; 34: 169-172. doi:10.1136/jmg.34.2.169 [Abstract] [PDF] [Request Permissions]

Parents' responses to predictive genetic testing in their children.
A Clarke
J Med Genet 1997; 34: 174-175. doi:10.1136/jmg.34.2.174 [PDF] [Request Permissions]

D409H/D409H genotype in Gaucher-like disease.
E Uyama, M Uchino, H Ida, Y Eto, and M Owada
J Med Genet 1997; 34: 175. doi:10.1136/jmg.34.2.175 [PDF] [Request Permissions]

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	Medical genetics: advances in brief: Effect of detailed fetal echocardiography as part of routine prenatal ultrasonographic screening on detection of congenital heart disease Angela Barnicoat J Med Genet 1997; 34: 173. doi:10.1136/jmg.34.2.173 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis Angela Barnicoat J Med Genet 1997; 34: 173. doi:10.1136/jmg.34.2.173-a [PDF] [Request Permissions]

	An Introduction to Recombinant DNA in Medicine Fiona Norwood J Med Genet 1997; 34: 176. doi:10.1136/jmg.34.2.176 [PDF] [Request Permissions]

	Neurology of Hereditary Metabolic Disorders of Children Michael Baraitser J Med Genet 1997; 34: 176. doi:10.1136/jmg.34.2.176-a [PDF] [Request Permissions]

	Human Molecular Genetics Dorothy Trump J Med Genet 1997; 34: 176. doi:10.1136/jmg.34.2.176-b [PDF] [Request Permissions]

	Letters to the Editor J Med Genet 1997; 34: 174-175. doi:10.1136/jmg.34.2.174-a [PDF] [Request Permissions]

	Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W. G Antiñolo, S Borrego, M Gili, J Dapena, I Alfageme, and F Reina J Med Genet 1997; 34: 89-91. doi:10.1136/jmg.34.2.89 [Abstract] [PDF] [Request Permissions]

	Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. P L Beales, A M Warner, G A Hitman, R Thakker, and F A Flinter J Med Genet 1997; 34: 92-98. doi:10.1136/jmg.34.2.92 [Abstract] [PDF] [Request Permissions]

	Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy. I S Naom, M D'Alessandro, H Topaloglu, C Sewry, A Ferlini, A Helbling-Leclerc, P Guicheney, J Weissenbach, K Schwartz, K Bushby, J Philpot, V Dubowitz, and F Muntoni J Med Genet 1997; 34: 99-104. doi:10.1136/jmg.34.2.99 [Abstract] [PDF] [Request Permissions]

	Fucosidosis: genetic and biochemical analysis of eight cases. H Cragg, M Williamson, E Young, J O'Brien, J Alhadeff, S Fang-Kircher, E Paschke, and B Winchester J Med Genet 1997; 34: 105-110. doi:10.1136/jmg.34.2.105 [Abstract] [PDF] [Request Permissions]

	Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394. I N Day, L Haddad, S D O'Dell, L B Day, R A Whittall, and S E Humphries J Med Genet 1997; 34: 111-116. doi:10.1136/jmg.34.2.111 [Abstract] [PDF] [Request Permissions]

	Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q. M Votruba, A T Moore, and S S Bhattacharya J Med Genet 1997; 34: 117-121. doi:10.1136/jmg.34.2.117 [Abstract] [PDF] [Request Permissions]

	Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I. M C Rosatelli, A Meloni, V Faa, L Saba, G Crisponi, M G Clemente, G Meloni, M T Piga, and A Cao J Med Genet 1997; 34: 122-125. doi:10.1136/jmg.34.2.122 [Abstract] [PDF] [Request Permissions]

	Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage. E Gausden, B Coyle, J A Armour, R Coffey, A Grossman, G R Fraser, R M Winter, M E Pembrey, P Kendall-Taylor, D Stephens, L M Luxon, P D Phelps, W Reardon, and R Trembath J Med Genet 1997; 34: 126-129. doi:10.1136/jmg.34.2.126 [Abstract] [PDF] [Request Permissions]

	Exclusion of CAG repeat expansion as the cause of disease in autosomal dominant retinitis pigmentosa families. T J Keen, A G Morris, and C F Inglehearn J Med Genet 1997; 34: 130-132. doi:10.1136/jmg.34.2.130 [Abstract] [PDF] [Request Permissions]

	Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis. L C Wilson, M E Oude Luttikhuis, M Baraitser, H M Kingston, and R C Trembath J Med Genet 1997; 34: 133-136. doi:10.1136/jmg.34.2.133 [Abstract] [PDF] [Request Permissions]

	Germline and somatic mosaicism in a female carrier of Hunter disease. R Froissart, I Maire, V Bonnet, T Levade, and D Bozon J Med Genet 1997; 34: 137-140. doi:10.1136/jmg.34.2.137 [Abstract] [PDF] [Request Permissions]

	The role and practice of the genetic nurse: report of the AGNC Working Party. H Skirton, C Barnes, G Curtis, and J Walford-Moore J Med Genet 1997; 34: 141-147. doi:10.1136/jmg.34.2.141 [Abstract] [PDF] [Request Permissions]

	Haemochromatosis: a gene at last? K J Robson, J D Shearman, A T Merryweather-Clarke, J J Pointon, W M Rosenberg, A P Walker, J S Dooley, A Bomford, R Raha-Chowdhury, and M Worwood J Med Genet 1997; 34: 148-151. doi:10.1136/jmg.34.2.148 [PDF] [Request Permissions]

	Alagille syndrome. I D Krantz, D A Piccoli, and N B Spinner J Med Genet 1997; 34: 152-157. doi:10.1136/jmg.34.2.152 [Abstract] [PDF] [Request Permissions]

	Androgen insensitivity with mental retardation: a contiguous gene syndrome? H R Davies, I A Hughes, M O Savage, C A Quigley, M Trifiro, L Pinsky, T R Brown, and M N Patterson J Med Genet 1997; 34: 158-160. doi:10.1136/jmg.34.2.158 [Abstract] [PDF] [Request Permissions]

	Functional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito. L S Correa-Cerro, H Rivera, and A I Vasquez J Med Genet 1997; 34: 161-163. doi:10.1136/jmg.34.2.161 [Abstract] [PDF] [Request Permissions]

	Familial complex chromosome rearrangement ascertained by in situ hybridisation. C Fuster, L Miguez, R Miró, M A Rigola, A Perez, and J Egozcue J Med Genet 1997; 34: 164-166. doi:10.1136/jmg.34.2.164 [Abstract] [PDF] [Request Permissions]

	Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes. M L Whiteford, A Narendra, M P White, A Cooke, A G Wilkinson, K J Robertson, and J L Tolmie J Med Genet 1997; 34: 167-168. doi:10.1136/jmg.34.2.167 [Abstract] [PDF] [Request Permissions]

	Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. A Pandya, X Xia, J Radnaabazar, J Batsuuri, B Dangaansuren, N Fischel-Ghodsian, and W E Nance J Med Genet 1997; 34: 169-172. doi:10.1136/jmg.34.2.169 [Abstract] [PDF] [Request Permissions]

	Parents' responses to predictive genetic testing in their children. A Clarke J Med Genet 1997; 34: 174-175. doi:10.1136/jmg.34.2.174 [PDF] [Request Permissions]

	D409H/D409H genotype in Gaucher-like disease. E Uyama, M Uchino, H Ida, Y Eto, and M Owada J Med Genet 1997; 34: 175. doi:10.1136/jmg.34.2.175 [PDF] [Request Permissions]