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August 1995 (Volume 32, Number 8). [Index by author]

		Abstracts Book Reviews Research Article

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Abstracts

Medical genetics: advances in brief: A multinstitutional survey of Wiskott-Aldrich syndrome
Jill Clayton-Smith
J Med Genet 1995; 32: 666. doi:10.1136/jmg.32.8.666 [PDF] [Request Permissions]

Medical genetics: advances in brief: Mutation in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes
Frances Flinter
J Med Genet 1995; 32: 666. doi:10.1136/jmg.32.8.666-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Comparison of women who do and do not have amniocentesis or chorionic villus sampling
Angela Barnicoat
J Med Genet 1995; 32: 666. doi:10.1136/jmg.32.8.666-b [PDF] [Request Permissions]

Medical genetics: advances in brief: Regulation of insulin gene expression by the IDDM associated, insulin locus haplotype
John C K Barber
J Med Genet 1995; 32: 667. doi:10.1136/jmg.32.8.667 [PDF] [Request Permissions]

Medical genetics: advances in brief: Health supervision for children with achondroplasia
Jill Clayton-Smith
J Med Genet 1995; 32: 667. doi:10.1136/jmg.32.8.667-a [PDF] [Request Permissions]

Book Reviews

Assessing Genetic Risks: Implications for Health and Social Policy
Elizabeth N Anionwu
J Med Genet 1995; 32: 671. doi:10.1136/jmg.32.8.671 [PDF] [Request Permissions]

Genetics in Neurology
John Macmillan
J Med Genet 1995; 32: 671-672. doi:10.1136/jmg.32.8.671-a [PDF] [Request Permissions]

Textbook of Fetal Physiology
Ann Harris
J Med Genet 1995; 32: 672. doi:10.1136/jmg.32.8.672 [PDF] [Request Permissions]

Research Article

The association of combined alpha and beta fibrinogen genotype on plasma fibrinogen levels in smokers and non-smokers.
A E Thomas, F R Green, H Lamlum, and S E Humphries
J Med Genet 1995; 32: 585-589. doi:10.1136/jmg.32.8.585 [Abstract] [PDF] [Request Permissions]

Spinocerebellar ataxia 1 (SCA1) in the Japanese in Hokkaido may derive from a single common ancestry.
A Wakisaka, H Sasaki, A Takada, T Fukazawa, Y Suzuki, T Hamada, K Iwabuchi, K Tashiro, and T Yoshiki
J Med Genet 1995; 32: 590-592. doi:10.1136/jmg.32.8.590 [Abstract] [PDF] [Request Permissions]

Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period.
L Martorell, J M Martinez, N Carey, K Johnson, and M Baiget
J Med Genet 1995; 32: 593-596. doi:10.1136/jmg.32.8.593 [Abstract] [PDF] [Request Permissions]

Attitudes towards Down's syndrome: follow up of a cohort of 280 cases.
C Julian-Reynier, Y Aurran, A Dumaret, A Maron, F Chabal, F Giraud, and S Aymé
J Med Genet 1995; 32: 597-599. doi:10.1136/jmg.32.8.597 [Abstract] [PDF] [Request Permissions]

Neuropsychological characteristics of Huntington's disease carriers: a double blind study.
N K Rosenberg, S A Sørensen, and A L Christensen
J Med Genet 1995; 32: 600-604. doi:10.1136/jmg.32.8.600 [Abstract] [PDF] [Request Permissions]

Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.
A Verloes, A David, L Ngô, and A Bottani
J Med Genet 1995; 32: 605-611. doi:10.1136/jmg.32.8.605 [Abstract] [PDF] [Request Permissions]

Velocardiofacial syndrome: learning difficulties and intervention.
L L Kok and R T Solman
J Med Genet 1995; 32: 612-618. doi:10.1136/jmg.32.8.612 [Abstract] [PDF] [Request Permissions]

Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes.
K M Keppler-Noreuil, A J Carroll, W H Finley, and S L Rutledge
J Med Genet 1995; 32: 619-622. doi:10.1136/jmg.32.8.619 [Abstract] [PDF] [Request Permissions]

Consanguinity among the Saudi Arabian population.
M A el-Hazmi, A R al-Swailem, A S Warsy, A M al-Swailem, R Sulaimani, and A A al-Meshari
J Med Genet 1995; 32: 623-626. doi:10.1136/jmg.32.8.623 [Abstract] [PDF] [Request Permissions]

Congenital anomalies and genetic disorders in families of children with central nervous system tumours.
S M Jones, P C Phillips, P T Molloy, B J Lange, M N Needle, and J A Biegel
J Med Genet 1995; 32: 627-632. doi:10.1136/jmg.32.8.627 [Abstract] [PDF] [Request Permissions]

Congenital heart disease in spondylothoracic dysostosis: two familial cases.
J M Simpson, A Cook, N L Fagg, N A MacLachlan, and G K Sharland
J Med Genet 1995; 32: 633-635. doi:10.1136/jmg.32.8.633 [Abstract] [PDF] [Request Permissions]

Developmental delay and dysmorphic features associated with a previously undescribed deletion on chromosome 1.
J S Barton, J O'Loughlin, R T Howell, and R L'e Orme
J Med Genet 1995; 32: 636-637. doi:10.1136/jmg.32.8.636 [Abstract] [PDF] [Request Permissions]

Anonychia and absence/hypoplasia of distal phalanges (Cooks syndrome): report of a second family.
N C Nevin, P S Thomas, D J Eedy, and C Shepherd
J Med Genet 1995; 32: 638-641. doi:10.1136/jmg.32.8.638 [Abstract] [PDF] [Request Permissions]

Apolipoprotein E epsilon 4 allele is a risk factor for familial and sporadic presenile Alzheimer's disease in both homozygote and heterozygote carriers.
D St Clair, M Rennie, E Slorach, J Norrman, C Yates, and A Carothers
J Med Genet 1995; 32: 642-644. doi:10.1136/jmg.32.8.642 [Abstract] [PDF] [Request Permissions]

Direct molecular analysis of myotonic dystrophy in the German population: important considerations in genetic counselling.
A Meiner, C Wolf, N Carey, A Okitsu, K Johnson, P Shelbourne, B Kunath, W Sauermann, H Thiele, and P Kupferling
J Med Genet 1995; 32: 645-649. doi:10.1136/jmg.32.8.645 [Abstract] [PDF] [Request Permissions]

Double non-disjunction in maternal meiosis II giving rise to a fetus with 48,XXX,+21.
V M Park, R R Bravo, and L P Shulman
J Med Genet 1995; 32: 650-653. doi:10.1136/jmg.32.8.650 [Abstract] [PDF] [Request Permissions]

Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness.
S Manouvrier, A Rötig, G Hannebique, J D Gheerbrandt, G Royer-Legrain, A Munnich, M Parent, J P Grünfeld, C Largilliere, and A Lombes
J Med Genet 1995; 32: 654-656. doi:10.1136/jmg.32.8.654 [Abstract] [PDF] [Request Permissions]

Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion.
J O Van Hemel, C Schaap, D Van Opstal, M P Mulder, M F Niermeijer, and J H Meijers
J Med Genet 1995; 32: 657-658. doi:10.1136/jmg.32.8.657 [Abstract] [PDF] [Request Permissions]

Filippi syndrome: a new case with skeletal abnormalities.
D Héron, T Billette de Villemeur, A Munnich, and S Lyonnet
J Med Genet 1995; 32: 659-661. doi:10.1136/jmg.32.8.659 [Abstract] [PDF] [Request Permissions]

Report on MDA workshop on myotonic dystrophy, 10 October 1994, Montreal, Quebec, Canada.
K Johnson and M J Siciliano
J Med Genet 1995; 32: 662-665. doi:10.1136/jmg.32.8.662 [PDF] [Request Permissions]

Anophthalmia with cleft palate and micrognathia: a new syndrome or an unusual presentation of Rubinstein-Taybi syndrome?
J P Fryns
J Med Genet 1995; 32: 668. doi:10.1136/jmg.32.8.668 [PDF] [Request Permissions]

Pallister-Hall and McKusick-Kaufmann syndromes.
I W Lurie
J Med Genet 1995; 32: 668. doi:10.1136/jmg.32.8.668-a [PDF] [Request Permissions]

Idiopathic hypoparathyroidism in two patients with 22q11 microdeletion.
Y Makita, M Masuno, K Maizumi, K Tachibana, Y Kuroki, and H Kurahashi
J Med Genet 1995; 32: 669. doi:10.1136/jmg.32.8.669 [PDF] [Request Permissions]

Prototype sequence clues within the Fanconi anaemia group C gene.
W Liebetrau, M Bühner, and H Hoehn
J Med Genet 1995; 32: 669-670. doi:10.1136/jmg.32.8.669-a [PDF] [Request Permissions]

The COX8 gene is not the disease gene of the CMH4 locus in familial hypertrophic cardiomyopathy.
G Bonne, L Carrier, K Schwartz, and M Komajda
J Med Genet 1995; 32: 670-671. doi:10.1136/jmg.32.8.670 [PDF] [Request Permissions]

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	Medical genetics: advances in brief: A multinstitutional survey of Wiskott-Aldrich syndrome Jill Clayton-Smith J Med Genet 1995; 32: 666. doi:10.1136/jmg.32.8.666 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Mutation in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes Frances Flinter J Med Genet 1995; 32: 666. doi:10.1136/jmg.32.8.666-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Comparison of women who do and do not have amniocentesis or chorionic villus sampling Angela Barnicoat J Med Genet 1995; 32: 666. doi:10.1136/jmg.32.8.666-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: Regulation of insulin gene expression by the IDDM associated, insulin locus haplotype John C K Barber J Med Genet 1995; 32: 667. doi:10.1136/jmg.32.8.667 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Health supervision for children with achondroplasia Jill Clayton-Smith J Med Genet 1995; 32: 667. doi:10.1136/jmg.32.8.667-a [PDF] [Request Permissions]

	Assessing Genetic Risks: Implications for Health and Social Policy Elizabeth N Anionwu J Med Genet 1995; 32: 671. doi:10.1136/jmg.32.8.671 [PDF] [Request Permissions]

	Genetics in Neurology John Macmillan J Med Genet 1995; 32: 671-672. doi:10.1136/jmg.32.8.671-a [PDF] [Request Permissions]

	Textbook of Fetal Physiology Ann Harris J Med Genet 1995; 32: 672. doi:10.1136/jmg.32.8.672 [PDF] [Request Permissions]

	The association of combined alpha and beta fibrinogen genotype on plasma fibrinogen levels in smokers and non-smokers. A E Thomas, F R Green, H Lamlum, and S E Humphries J Med Genet 1995; 32: 585-589. doi:10.1136/jmg.32.8.585 [Abstract] [PDF] [Request Permissions]

	Spinocerebellar ataxia 1 (SCA1) in the Japanese in Hokkaido may derive from a single common ancestry. A Wakisaka, H Sasaki, A Takada, T Fukazawa, Y Suzuki, T Hamada, K Iwabuchi, K Tashiro, and T Yoshiki J Med Genet 1995; 32: 590-592. doi:10.1136/jmg.32.8.590 [Abstract] [PDF] [Request Permissions]

	Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period. L Martorell, J M Martinez, N Carey, K Johnson, and M Baiget J Med Genet 1995; 32: 593-596. doi:10.1136/jmg.32.8.593 [Abstract] [PDF] [Request Permissions]

	Attitudes towards Down's syndrome: follow up of a cohort of 280 cases. C Julian-Reynier, Y Aurran, A Dumaret, A Maron, F Chabal, F Giraud, and S Aymé J Med Genet 1995; 32: 597-599. doi:10.1136/jmg.32.8.597 [Abstract] [PDF] [Request Permissions]

	Neuropsychological characteristics of Huntington's disease carriers: a double blind study. N K Rosenberg, S A Sørensen, and A L Christensen J Med Genet 1995; 32: 600-604. doi:10.1136/jmg.32.8.600 [Abstract] [PDF] [Request Permissions]

	Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands. A Verloes, A David, L Ngô, and A Bottani J Med Genet 1995; 32: 605-611. doi:10.1136/jmg.32.8.605 [Abstract] [PDF] [Request Permissions]

	Velocardiofacial syndrome: learning difficulties and intervention. L L Kok and R T Solman J Med Genet 1995; 32: 612-618. doi:10.1136/jmg.32.8.612 [Abstract] [PDF] [Request Permissions]

	Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes. K M Keppler-Noreuil, A J Carroll, W H Finley, and S L Rutledge J Med Genet 1995; 32: 619-622. doi:10.1136/jmg.32.8.619 [Abstract] [PDF] [Request Permissions]

	Consanguinity among the Saudi Arabian population. M A el-Hazmi, A R al-Swailem, A S Warsy, A M al-Swailem, R Sulaimani, and A A al-Meshari J Med Genet 1995; 32: 623-626. doi:10.1136/jmg.32.8.623 [Abstract] [PDF] [Request Permissions]

	Congenital anomalies and genetic disorders in families of children with central nervous system tumours. S M Jones, P C Phillips, P T Molloy, B J Lange, M N Needle, and J A Biegel J Med Genet 1995; 32: 627-632. doi:10.1136/jmg.32.8.627 [Abstract] [PDF] [Request Permissions]

	Congenital heart disease in spondylothoracic dysostosis: two familial cases. J M Simpson, A Cook, N L Fagg, N A MacLachlan, and G K Sharland J Med Genet 1995; 32: 633-635. doi:10.1136/jmg.32.8.633 [Abstract] [PDF] [Request Permissions]

	Developmental delay and dysmorphic features associated with a previously undescribed deletion on chromosome 1. J S Barton, J O'Loughlin, R T Howell, and R L'e Orme J Med Genet 1995; 32: 636-637. doi:10.1136/jmg.32.8.636 [Abstract] [PDF] [Request Permissions]

	Anonychia and absence/hypoplasia of distal phalanges (Cooks syndrome): report of a second family. N C Nevin, P S Thomas, D J Eedy, and C Shepherd J Med Genet 1995; 32: 638-641. doi:10.1136/jmg.32.8.638 [Abstract] [PDF] [Request Permissions]

	Apolipoprotein E epsilon 4 allele is a risk factor for familial and sporadic presenile Alzheimer's disease in both homozygote and heterozygote carriers. D St Clair, M Rennie, E Slorach, J Norrman, C Yates, and A Carothers J Med Genet 1995; 32: 642-644. doi:10.1136/jmg.32.8.642 [Abstract] [PDF] [Request Permissions]

	Direct molecular analysis of myotonic dystrophy in the German population: important considerations in genetic counselling. A Meiner, C Wolf, N Carey, A Okitsu, K Johnson, P Shelbourne, B Kunath, W Sauermann, H Thiele, and P Kupferling J Med Genet 1995; 32: 645-649. doi:10.1136/jmg.32.8.645 [Abstract] [PDF] [Request Permissions]

	Double non-disjunction in maternal meiosis II giving rise to a fetus with 48,XXX,+21. V M Park, R R Bravo, and L P Shulman J Med Genet 1995; 32: 650-653. doi:10.1136/jmg.32.8.650 [Abstract] [PDF] [Request Permissions]

	Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness. S Manouvrier, A Rötig, G Hannebique, J D Gheerbrandt, G Royer-Legrain, A Munnich, M Parent, J P Grünfeld, C Largilliere, and A Lombes J Med Genet 1995; 32: 654-656. doi:10.1136/jmg.32.8.654 [Abstract] [PDF] [Request Permissions]

	Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion. J O Van Hemel, C Schaap, D Van Opstal, M P Mulder, M F Niermeijer, and J H Meijers J Med Genet 1995; 32: 657-658. doi:10.1136/jmg.32.8.657 [Abstract] [PDF] [Request Permissions]

	Filippi syndrome: a new case with skeletal abnormalities. D Héron, T Billette de Villemeur, A Munnich, and S Lyonnet J Med Genet 1995; 32: 659-661. doi:10.1136/jmg.32.8.659 [Abstract] [PDF] [Request Permissions]

	Report on MDA workshop on myotonic dystrophy, 10 October 1994, Montreal, Quebec, Canada. K Johnson and M J Siciliano J Med Genet 1995; 32: 662-665. doi:10.1136/jmg.32.8.662 [PDF] [Request Permissions]

	Anophthalmia with cleft palate and micrognathia: a new syndrome or an unusual presentation of Rubinstein-Taybi syndrome? J P Fryns J Med Genet 1995; 32: 668. doi:10.1136/jmg.32.8.668 [PDF] [Request Permissions]

	Pallister-Hall and McKusick-Kaufmann syndromes. I W Lurie J Med Genet 1995; 32: 668. doi:10.1136/jmg.32.8.668-a [PDF] [Request Permissions]

	Idiopathic hypoparathyroidism in two patients with 22q11 microdeletion. Y Makita, M Masuno, K Maizumi, K Tachibana, Y Kuroki, and H Kurahashi J Med Genet 1995; 32: 669. doi:10.1136/jmg.32.8.669 [PDF] [Request Permissions]

	Prototype sequence clues within the Fanconi anaemia group C gene. W Liebetrau, M Bühner, and H Hoehn J Med Genet 1995; 32: 669-670. doi:10.1136/jmg.32.8.669-a [PDF] [Request Permissions]

	The COX8 gene is not the disease gene of the CMH4 locus in familial hypertrophic cardiomyopathy. G Bonne, L Carrier, K Schwartz, and M Komajda J Med Genet 1995; 32: 670-671. doi:10.1136/jmg.32.8.670 [PDF] [Request Permissions]