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August 1996 (Volume 33, Number 8). [Index by author]

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Abstracts

Medical genetics: advances in brief: Amyoplasia, the most common type of arthrogryposis: the potential for good outcome
Jill Clayton-Smith
J Med Genet 1996; 33: 718. doi:10.1136/jmg.33.8.718 [PDF] [Request Permissions]

Medical genetics: advances in brief: Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
John C K Barber
J Med Genet 1996; 33: 718. doi:10.1136/jmg.33.8.718-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome
Angela Barnicoat
J Med Genet 1996; 33: 718. doi:10.1136/jmg.33.8.718-b [PDF] [Request Permissions]

Book Reviews

Non-Isotopic Methods in Molecular Biology. A Practical Approach
David Huen
J Med Genet 1996; 33: 720. doi:10.1136/jmg.33.8.720 [PDF] [Request Permissions]

Human Molecular Genetics
Jo Whittaker
J Med Genet 1996; 33: 720. doi:10.1136/jmg.33.8.720-a [PDF] [Request Permissions]

Research Article

German family study on hereditary breast-ovarian cancer.
U Hamann, H Becher, T Zimmermann, K Pella, G Bastert, and J Chang-Claude
J Med Genet 1996; 33: 633-635. doi:10.1136/jmg.33.8.633 [Abstract] [PDF] [Request Permissions]

Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation.
P Hutter, A Couturier, R J Scott, P Alday, C Delozier-Blanchet, F Cachat, S E Antonarakis, F Joris, M Gaudin, L D'Amato, and J M Buerstedde
J Med Genet 1996; 33: 636-640. doi:10.1136/jmg.33.8.636 [Abstract] [PDF] [Request Permissions]

Distribution of oculocutaneous albinism in Zimbabwe.
P M Lund
J Med Genet 1996; 33: 641-644. doi:10.1136/jmg.33.8.641 [Abstract] [PDF] [Request Permissions]

Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.
I Matsuda, T Matsuura, A Nishiyori, S Komaki, R Hoshide, T Matsumoto, M Funakoshi, K Kiwaki, F Endo, A Hata, M Shimadzu, and M Yoshino
J Med Genet 1996; 33: 645-648. doi:10.1136/jmg.33.8.645 [Abstract] [PDF] [Request Permissions]

The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.
A Winterpacht, A Superti-Furga, U Schwarze, H Stöss, B Steinmann, J Spranger, and B Zabel
J Med Genet 1996; 33: 649-654. doi:10.1136/jmg.33.8.649 [Abstract] [PDF] [Request Permissions]

PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.
F A Hol, M P Geurds, S Chatkupt, Y Y Shugart, R Balling, C T Schrander-Stumpel, W G Johnson, B C Hamel, and E C Mariman
J Med Genet 1996; 33: 655-660. doi:10.1136/jmg.33.8.655 [Abstract] [PDF] [Request Permissions]

No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.
D Campion, A Brice, D Hannequin, F Charbonnier, B Dubois, C Martin, A Michon, C Penet, M Bellis, A Calenda, M Martinez, Y Agid, F Clerget-Darpoux, and T Frebourg
J Med Genet 1996; 33: 661-664. doi:10.1136/jmg.33.8.661 [Abstract] [PDF] [Request Permissions]

Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome.
L C Adès, E A Haan, A F Colley, and R I Richard
J Med Genet 1996; 33: 665-671. doi:10.1136/jmg.33.8.665 [Abstract] [PDF] [Request Permissions]

Linkage of rheumatoid arthritis to the candidate gene NRAMP1 on 2q35.
M A Shaw, D Clayton, S E Atkinson, H Williams, N Miller, D Sibthorpe, and J M Blackwell
J Med Genet 1996; 33: 672-677. doi:10.1136/jmg.33.8.672 [Abstract] [PDF] [Request Permissions]

PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome.
N N Ahmad, D M McDonald-McGinn, P Dixon, E H Zackai, and W S Tasman
J Med Genet 1996; 33: 678-681. doi:10.1136/jmg.33.8.678 [Abstract] [PDF] [Request Permissions]

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.
I Redonnet-Vernhet, J K Ploos van Amstel, R P Jansen, R A Wevers, R Salvayre, and T Levade
J Med Genet 1996; 33: 682-688. doi:10.1136/jmg.33.8.682 [Abstract] [PDF] [Request Permissions]

Investigation of an interleukin-4 promoter polymorphism for associations with asthma and atopy.
A J Walley and W O Cookson
J Med Genet 1996; 33: 689-692. doi:10.1136/jmg.33.8.689 [Abstract] [PDF] [Request Permissions]

Rett syndrome.
A Clarke
J Med Genet 1996; 33: 693-699. doi:10.1136/jmg.33.8.693 [PDF] [Request Permissions]

X chromosome inactivation pattern in female carriers of X linked hypophosphataemic rickets.
K H Orstavik, R E Orstavik, J Halse, and J Knudtzon
J Med Genet 1996; 33: 700-703. doi:10.1136/jmg.33.8.700 [Abstract] [PDF] [Request Permissions]

Gorlin syndrome associated with midline nasal dermoid cyst.
E K Pivnick, A W Walter, M D Lawrence, and M E Smith
J Med Genet 1996; 33: 704-706. doi:10.1136/jmg.33.8.704 [Abstract] [PDF] [Request Permissions]

Hidrotic ectodermal dysplasia of hair, teeth, and nails: case reports and review.
L S Chitty, N Dennis, and M Baraitser
J Med Genet 1996; 33: 707-710. doi:10.1136/jmg.33.8.707 [Abstract] [PDF] [Request Permissions]

Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D.
R B Parad
J Med Genet 1996; 33: 711-713. doi:10.1136/jmg.33.8.711 [Abstract] [PDF] [Request Permissions]

Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q.
Z Mohamed, C Bell, H M Hammer, C A Converse, L Esakowitz, and N E Haites
J Med Genet 1996; 33: 714-715. doi:10.1136/jmg.33.8.714 [Abstract] [PDF] [Request Permissions]

Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.
F Chen, L Slife, T Kishida, J Mulvihill, S E Tisherman, and B Zbar
J Med Genet 1996; 33: 716-717. doi:10.1136/jmg.33.8.716 [Abstract] [PDF] [Request Permissions]

Prevalence of 22q11 microdeletion.
S Tézenas Du Montcel, H Mendizabai, S Aymé, A Lévy, and N Philip
J Med Genet 1996; 33: 719. doi:10.1136/jmg.33.8.719 [PDF] [Request Permissions]

Should the 3C (craniocerebellocardiac) syndrome be included in the spectrum of velocardiofacial syndrome and DiGeorge sequence?
M G Butler and P Mowrey
J Med Genet 1996; 33: 719-720. doi:10.1136/jmg.33.8.719-a [PDF] [Request Permissions]

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	Medical genetics: advances in brief: Amyoplasia, the most common type of arthrogryposis: the potential for good outcome Jill Clayton-Smith J Med Genet 1996; 33: 718. doi:10.1136/jmg.33.8.718 [PDF] [Request Permissions]

	*Medical genetics: advances in brief: Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13* John C K Barber J Med Genet 1996; 33: 718. doi:10.1136/jmg.33.8.718-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome Angela Barnicoat J Med Genet 1996; 33: 718. doi:10.1136/jmg.33.8.718-b [PDF] [Request Permissions]

	Non-Isotopic Methods in Molecular Biology. A Practical Approach David Huen J Med Genet 1996; 33: 720. doi:10.1136/jmg.33.8.720 [PDF] [Request Permissions]

	Human Molecular Genetics Jo Whittaker J Med Genet 1996; 33: 720. doi:10.1136/jmg.33.8.720-a [PDF] [Request Permissions]

	German family study on hereditary breast-ovarian cancer. U Hamann, H Becher, T Zimmermann, K Pella, G Bastert, and J Chang-Claude J Med Genet 1996; 33: 633-635. doi:10.1136/jmg.33.8.633 [Abstract] [PDF] [Request Permissions]

	Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation. P Hutter, A Couturier, R J Scott, P Alday, C Delozier-Blanchet, F Cachat, S E Antonarakis, F Joris, M Gaudin, L D'Amato, and J M Buerstedde J Med Genet 1996; 33: 636-640. doi:10.1136/jmg.33.8.636 [Abstract] [PDF] [Request Permissions]

	Distribution of oculocutaneous albinism in Zimbabwe. P M Lund J Med Genet 1996; 33: 641-644. doi:10.1136/jmg.33.8.641 [Abstract] [PDF] [Request Permissions]

	Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult. I Matsuda, T Matsuura, A Nishiyori, S Komaki, R Hoshide, T Matsumoto, M Funakoshi, K Kiwaki, F Endo, A Hata, M Shimadzu, and M Yoshino J Med Genet 1996; 33: 645-648. doi:10.1136/jmg.33.8.645 [Abstract] [PDF] [Request Permissions]

	The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia. A Winterpacht, A Superti-Furga, U Schwarze, H Stöss, B Steinmann, J Spranger, and B Zabel J Med Genet 1996; 33: 649-654. doi:10.1136/jmg.33.8.649 [Abstract] [PDF] [Request Permissions]

	PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida. F A Hol, M P Geurds, S Chatkupt, Y Y Shugart, R Balling, C T Schrander-Stumpel, W G Johnson, B C Hamel, and E C Mariman J Med Genet 1996; 33: 655-660. doi:10.1136/jmg.33.8.655 [Abstract] [PDF] [Request Permissions]

	No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group. D Campion, A Brice, D Hannequin, F Charbonnier, B Dubois, C Martin, A Michon, C Penet, M Bellis, A Calenda, M Martinez, Y Agid, F Clerget-Darpoux, and T Frebourg J Med Genet 1996; 33: 661-664. doi:10.1136/jmg.33.8.661 [Abstract] [PDF] [Request Permissions]

	Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome. L C Adès, E A Haan, A F Colley, and R I Richard J Med Genet 1996; 33: 665-671. doi:10.1136/jmg.33.8.665 [Abstract] [PDF] [Request Permissions]

	Linkage of rheumatoid arthritis to the candidate gene NRAMP1 on 2q35. M A Shaw, D Clayton, S E Atkinson, H Williams, N Miller, D Sibthorpe, and J M Blackwell J Med Genet 1996; 33: 672-677. doi:10.1136/jmg.33.8.672 [Abstract] [PDF] [Request Permissions]

	PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome. N N Ahmad, D M McDonald-McGinn, P Dixon, E H Zackai, and W S Tasman J Med Genet 1996; 33: 678-681. doi:10.1136/jmg.33.8.678 [Abstract] [PDF] [Request Permissions]

	Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene. I Redonnet-Vernhet, J K Ploos van Amstel, R P Jansen, R A Wevers, R Salvayre, and T Levade J Med Genet 1996; 33: 682-688. doi:10.1136/jmg.33.8.682 [Abstract] [PDF] [Request Permissions]

	Investigation of an interleukin-4 promoter polymorphism for associations with asthma and atopy. A J Walley and W O Cookson J Med Genet 1996; 33: 689-692. doi:10.1136/jmg.33.8.689 [Abstract] [PDF] [Request Permissions]

	Rett syndrome. A Clarke J Med Genet 1996; 33: 693-699. doi:10.1136/jmg.33.8.693 [PDF] [Request Permissions]

	X chromosome inactivation pattern in female carriers of X linked hypophosphataemic rickets. K H Orstavik, R E Orstavik, J Halse, and J Knudtzon J Med Genet 1996; 33: 700-703. doi:10.1136/jmg.33.8.700 [Abstract] [PDF] [Request Permissions]

	Gorlin syndrome associated with midline nasal dermoid cyst. E K Pivnick, A W Walter, M D Lawrence, and M E Smith J Med Genet 1996; 33: 704-706. doi:10.1136/jmg.33.8.704 [Abstract] [PDF] [Request Permissions]

	Hidrotic ectodermal dysplasia of hair, teeth, and nails: case reports and review. L S Chitty, N Dennis, and M Baraitser J Med Genet 1996; 33: 707-710. doi:10.1136/jmg.33.8.707 [Abstract] [PDF] [Request Permissions]

	Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D. R B Parad J Med Genet 1996; 33: 711-713. doi:10.1136/jmg.33.8.711 [Abstract] [PDF] [Request Permissions]

	Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q. Z Mohamed, C Bell, H M Hammer, C A Converse, L Esakowitz, and N E Haites J Med Genet 1996; 33: 714-715. doi:10.1136/jmg.33.8.714 [Abstract] [PDF] [Request Permissions]

	Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A. F Chen, L Slife, T Kishida, J Mulvihill, S E Tisherman, and B Zbar J Med Genet 1996; 33: 716-717. doi:10.1136/jmg.33.8.716 [Abstract] [PDF] [Request Permissions]

	Prevalence of 22q11 microdeletion. S Tézenas Du Montcel, H Mendizabai, S Aymé, A Lévy, and N Philip J Med Genet 1996; 33: 719. doi:10.1136/jmg.33.8.719 [PDF] [Request Permissions]

	Should the 3C (craniocerebellocardiac) syndrome be included in the spectrum of velocardiofacial syndrome and DiGeorge sequence? M G Butler and P Mowrey J Med Genet 1996; 33: 719-720. doi:10.1136/jmg.33.8.719-a [PDF] [Request Permissions]