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August 1994 (Volume 31, Number 8). [Index by author]

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Abstracts

Medical genetics: advances in brief: SRVX, a sex reversing locus in Xp21.2 $->$ p22.11
John C K Barber
J Med Genet 1994; 31: 656. doi:10.1136/jmg.31.8.656 [PDF] [Request Permissions]

Medical genetics: advances in brief: A worldwide study of the Huntington's disease mutation
David Ravine
J Med Genet 1994; 31: 656. doi:10.1136/jmg.31.8.656-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Huntington disease without CAG expansion: phenocopies or errors in assignment?
Frances Flinter
J Med Genet 1994; 31: 656. doi:10.1136/jmg.31.8.656-b [PDF] [Request Permissions]

Medical genetics: advances in brief: Neurofibromatosis type 1: the cognitive phenotype
Jill Clayton-Smith
J Med Genet 1994; 31: 656. doi:10.1136/jmg.31.8.656-c [PDF] [Request Permissions]

Medical genetics: advances in brief
John C K Barber
J Med Genet 1994; 31: 656-657. doi:10.1136/jmg.31.8.656-d [PDF] [Request Permissions]

Medical genetics: advances in brief: Analysis of limb reduction defects in babies exposed to chorionic villus sampling
W Reardon
J Med Genet 1994; 31: 657. doi:10.1136/jmg.31.8.657 [PDF] [Request Permissions]

Medical genetics: advances in brief: Progression of aortic dilatation and the benefit of long-term β-adrenergic blockade in Marfan's syndrome
David Ravine
J Med Genet 1994; 31: 657. doi:10.1136/jmg.31.8.657-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Localization of the achondroplasia gene to the distal 2-5 Mb of human chromosome 4p
John C K Barber
J Med Genet 1994; 31: 657. doi:10.1136/jmg.31.8.657-b [PDF] [Request Permissions]

Book Reviews

Nuffield Council on Bioethics: Genetic Screening Ethical Issues
Rodney Harris
J Med Genet 1994; 31: 661. doi:10.1136/jmg.31.8.661 [PDF] [Request Permissions]

The Molecualr Genetics of Haemostasis and its Inherited Disorders
Derrick J Bowen
J Med Genet 1994; 31: 661-662. doi:10.1136/jmg.31.8.661-a [PDF] [Request Permissions]

Research Article

Inv dup(15) supernumerary marker chromosomes.
T Webb
J Med Genet 1994; 31: 585-594. doi:10.1136/jmg.31.8.585 [PDF] [Request Permissions]

Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family.
C E de Die-Smulders, C J Höweler, J F Mirandolle, H G Brunner, V Hovers, H Brüggenwirth, H J Smeets, and J P Geraedts
J Med Genet 1994; 31: 595-601. doi:10.1136/jmg.31.8.595 [Abstract] [PDF] [Request Permissions]

Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.
P Edery, A Pelet, L M Mulligan, L Abel, T Attié, E Dow, D Bonneau, A David, W Flintoff, and D Jan
J Med Genet 1994; 31: 602-606. doi:10.1136/jmg.31.8.602 [Abstract] [PDF] [Request Permissions]

Parental origin of transcription from the human GNAS1 gene.
R Campbell, C M Gosden, and D T Bonthron
J Med Genet 1994; 31: 607-614. doi:10.1136/jmg.31.8.607 [Abstract] [PDF] [Request Permissions]

First trimester prenatal diagnosis of Menkes disease by DNA analysis.
Z Tümer, T Tønnesen, J Böhmann, W Marg, and N Horn
J Med Genet 1994; 31: 615-617. doi:10.1136/jmg.31.8.615 [Abstract] [PDF] [Request Permissions]

Neoplastic diseases in families of breast cancer patients.
H Tulinius, G H Olafsdottir, H Sigvaldason, L Tryggvadottir, and K Bjarnadottir
J Med Genet 1994; 31: 618-621. doi:10.1136/jmg.31.8.618 [Abstract] [PDF] [Request Permissions]

Apolipoprotein CII-Padova (Tyr37-->stop) as a cause of chylomicronaemia in an Italian kindred from Siculiana.
S Tuzgöl, S M Bijvoet, T Bruin, J J Kastelein, and M R Hayden
J Med Genet 1994; 31: 622-626. doi:10.1136/jmg.31.8.622 [Abstract] [PDF] [Request Permissions]

Muir-Torre syndrome: a variant of the cancer family syndrome.
N R Hall, M A Williams, V A Murday, J A Newton, and D T Bishop
J Med Genet 1994; 31: 627-631. doi:10.1136/jmg.31.8.627 [Abstract] [PDF] [Request Permissions]

An extra band within the human 9qh+ region that behaves like the surrounding constitutive heterochromatin.
J L Fernández, S Pereira, A Campos, J Gosálvez, and V Goyanes
J Med Genet 1994; 31: 632-634. doi:10.1136/jmg.31.8.632 [Abstract] [PDF] [Request Permissions]

Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome.
G B Schaefer, A L Rosenbloom, J Guevara-Aguirre, E A Campbell, F Ullrich, K Patil, and J L Frias
J Med Genet 1994; 31: 635-639. doi:10.1136/jmg.31.8.635 [Abstract] [PDF] [Request Permissions]

Congenital contractural arachnodactyly (Beals syndrome).
D Viljoen
J Med Genet 1994; 31: 640-643. doi:10.1136/jmg.31.8.640 [Abstract] [PDF] [Request Permissions]

Maternal uniparental disomy of chromosome 13 in a phenotypically normal child.
H Slater, J H Shaw, G Dawson, A Bankier, and S M Forrest
J Med Genet 1994; 31: 644-646. doi:10.1136/jmg.31.8.644 [Abstract] [PDF] [Request Permissions]

Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).
J Wolstenholme, J Brown, K G Masters, C Wright, and C J English
J Med Genet 1994; 31: 647-648. doi:10.1136/jmg.31.8.647 [Abstract] [PDF] [Request Permissions]

X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies.
T Kuznetzova, A Baranov, T Ivaschenko, G A Savitsky, O E Lanceva, M R Wang, M Giollant, P Malet, T Kascheeva, and V Vakharlovsky
J Med Genet 1994; 31: 649-651. doi:10.1136/jmg.31.8.649 [Abstract] [PDF] [Request Permissions]

Partial trisomy for 2q in a patient with dir dup(2) (q33.1q35).
D R Romain, N G Mackenzie, D Moss, L M Columbano-Green, R H Smythe, R G Parfitt, and J W Dixon
J Med Genet 1994; 31: 652-653. doi:10.1136/jmg.31.8.652 [Abstract] [PDF] [Request Permissions]

Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1).
S Castellví-Bel, T Matilla, M I Banchs, H Kruyer, J Corral, M Milà, and X Estivill
J Med Genet 1994; 31: 654-655. doi:10.1136/jmg.31.8.654 [Abstract] [PDF] [Request Permissions]

Expanded CAG trinucleotide repeat of Huntington's disease gene in a patient with schizophrenia and normal striatal histology.
D St Clair
J Med Genet 1994; 31: 658-659. doi:10.1136/jmg.31.8.658 [PDF] [Request Permissions]

Further family with autosomal dominant patent ductus arteriosus.
C G Woods and L J Sheffield
J Med Genet 1994; 31: 659. doi:10.1136/jmg.31.8.659 [PDF] [Request Permissions]

Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase.
H Cragg, B Winchester, H C Seo, J O'Brien, and D Swallow
J Med Genet 1994; 31: 659-660. doi:10.1136/jmg.31.8.659-a [PDF] [Request Permissions]

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	Medical genetics: advances in brief: SRVX, a sex reversing locus in Xp21.2 $->$ p22.11 John C K Barber J Med Genet 1994; 31: 656. doi:10.1136/jmg.31.8.656 [PDF] [Request Permissions]

	Medical genetics: advances in brief: A worldwide study of the Huntington's disease mutation David Ravine J Med Genet 1994; 31: 656. doi:10.1136/jmg.31.8.656-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Huntington disease without CAG expansion: phenocopies or errors in assignment? Frances Flinter J Med Genet 1994; 31: 656. doi:10.1136/jmg.31.8.656-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: Neurofibromatosis type 1: the cognitive phenotype Jill Clayton-Smith J Med Genet 1994; 31: 656. doi:10.1136/jmg.31.8.656-c [PDF] [Request Permissions]

	Medical genetics: advances in brief John C K Barber J Med Genet 1994; 31: 656-657. doi:10.1136/jmg.31.8.656-d [PDF] [Request Permissions]

	Medical genetics: advances in brief: Analysis of limb reduction defects in babies exposed to chorionic villus sampling W Reardon J Med Genet 1994; 31: 657. doi:10.1136/jmg.31.8.657 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Progression of aortic dilatation and the benefit of long-term β-adrenergic blockade in Marfan's syndrome David Ravine J Med Genet 1994; 31: 657. doi:10.1136/jmg.31.8.657-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Localization of the achondroplasia gene to the distal 2-5 Mb of human chromosome 4p John C K Barber J Med Genet 1994; 31: 657. doi:10.1136/jmg.31.8.657-b [PDF] [Request Permissions]

	Nuffield Council on Bioethics: Genetic Screening Ethical Issues Rodney Harris J Med Genet 1994; 31: 661. doi:10.1136/jmg.31.8.661 [PDF] [Request Permissions]

	The Molecualr Genetics of Haemostasis and its Inherited Disorders Derrick J Bowen J Med Genet 1994; 31: 661-662. doi:10.1136/jmg.31.8.661-a [PDF] [Request Permissions]

	Inv dup(15) supernumerary marker chromosomes. T Webb J Med Genet 1994; 31: 585-594. doi:10.1136/jmg.31.8.585 [PDF] [Request Permissions]

	Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family. C E de Die-Smulders, C J Höweler, J F Mirandolle, H G Brunner, V Hovers, H Brüggenwirth, H J Smeets, and J P Geraedts J Med Genet 1994; 31: 595-601. doi:10.1136/jmg.31.8.595 [Abstract] [PDF] [Request Permissions]

	Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus. P Edery, A Pelet, L M Mulligan, L Abel, T Attié, E Dow, D Bonneau, A David, W Flintoff, and D Jan J Med Genet 1994; 31: 602-606. doi:10.1136/jmg.31.8.602 [Abstract] [PDF] [Request Permissions]

	Parental origin of transcription from the human GNAS1 gene. R Campbell, C M Gosden, and D T Bonthron J Med Genet 1994; 31: 607-614. doi:10.1136/jmg.31.8.607 [Abstract] [PDF] [Request Permissions]

	First trimester prenatal diagnosis of Menkes disease by DNA analysis. Z Tümer, T Tønnesen, J Böhmann, W Marg, and N Horn J Med Genet 1994; 31: 615-617. doi:10.1136/jmg.31.8.615 [Abstract] [PDF] [Request Permissions]

	Neoplastic diseases in families of breast cancer patients. H Tulinius, G H Olafsdottir, H Sigvaldason, L Tryggvadottir, and K Bjarnadottir J Med Genet 1994; 31: 618-621. doi:10.1136/jmg.31.8.618 [Abstract] [PDF] [Request Permissions]

	Apolipoprotein CII-Padova (Tyr37-->stop) as a cause of chylomicronaemia in an Italian kindred from Siculiana. S Tuzgöl, S M Bijvoet, T Bruin, J J Kastelein, and M R Hayden J Med Genet 1994; 31: 622-626. doi:10.1136/jmg.31.8.622 [Abstract] [PDF] [Request Permissions]

	Muir-Torre syndrome: a variant of the cancer family syndrome. N R Hall, M A Williams, V A Murday, J A Newton, and D T Bishop J Med Genet 1994; 31: 627-631. doi:10.1136/jmg.31.8.627 [Abstract] [PDF] [Request Permissions]

	An extra band within the human 9qh+ region that behaves like the surrounding constitutive heterochromatin. J L Fernández, S Pereira, A Campos, J Gosálvez, and V Goyanes J Med Genet 1994; 31: 632-634. doi:10.1136/jmg.31.8.632 [Abstract] [PDF] [Request Permissions]

	Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome. G B Schaefer, A L Rosenbloom, J Guevara-Aguirre, E A Campbell, F Ullrich, K Patil, and J L Frias J Med Genet 1994; 31: 635-639. doi:10.1136/jmg.31.8.635 [Abstract] [PDF] [Request Permissions]

	Congenital contractural arachnodactyly (Beals syndrome). D Viljoen J Med Genet 1994; 31: 640-643. doi:10.1136/jmg.31.8.640 [Abstract] [PDF] [Request Permissions]

	Maternal uniparental disomy of chromosome 13 in a phenotypically normal child. H Slater, J H Shaw, G Dawson, A Bankier, and S M Forrest J Med Genet 1994; 31: 644-646. doi:10.1136/jmg.31.8.644 [Abstract] [PDF] [Request Permissions]

	Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)). J Wolstenholme, J Brown, K G Masters, C Wright, and C J English J Med Genet 1994; 31: 647-648. doi:10.1136/jmg.31.8.647 [Abstract] [PDF] [Request Permissions]

	X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies. T Kuznetzova, A Baranov, T Ivaschenko, G A Savitsky, O E Lanceva, M R Wang, M Giollant, P Malet, T Kascheeva, and V Vakharlovsky J Med Genet 1994; 31: 649-651. doi:10.1136/jmg.31.8.649 [Abstract] [PDF] [Request Permissions]

	Partial trisomy for 2q in a patient with dir dup(2) (q33.1q35). D R Romain, N G Mackenzie, D Moss, L M Columbano-Green, R H Smythe, R G Parfitt, and J W Dixon J Med Genet 1994; 31: 652-653. doi:10.1136/jmg.31.8.652 [Abstract] [PDF] [Request Permissions]

	Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1). S Castellví-Bel, T Matilla, M I Banchs, H Kruyer, J Corral, M Milà, and X Estivill J Med Genet 1994; 31: 654-655. doi:10.1136/jmg.31.8.654 [Abstract] [PDF] [Request Permissions]

	Expanded CAG trinucleotide repeat of Huntington's disease gene in a patient with schizophrenia and normal striatal histology. D St Clair J Med Genet 1994; 31: 658-659. doi:10.1136/jmg.31.8.658 [PDF] [Request Permissions]

	Further family with autosomal dominant patent ductus arteriosus. C G Woods and L J Sheffield J Med Genet 1994; 31: 659. doi:10.1136/jmg.31.8.659 [PDF] [Request Permissions]

	Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase. H Cragg, B Winchester, H C Seo, J O'Brien, and D Swallow J Med Genet 1994; 31: 659-660. doi:10.1136/jmg.31.8.659-a [PDF] [Request Permissions]