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September 1995 (Volume 32, Number 9). [Index by author]

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Abstracts

Medical genetics: advances in brief: The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling
Frances Flinter
J Med Genet 1995; 32: 755. doi:10.1136/jmg.32.9.755 [PDF] [Request Permissions]

Medical genetics: advances in brief: KAI1, a metastasis suppressor gene for prostate cancer on human chromosome 11p11.2
John C K Barber
J Med Genet 1995; 32: 755. doi:10.1136/jmg.32.9.755-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Rapid antibody test for fragile X syndrome
Angela Barnicoat
J Med Genet 1995; 32: 755. doi:10.1136/jmg.32.9.755-b [PDF] [Request Permissions]

Book Reviews

Cell Biology: a Laboratory Handbook
Ann Harris
J Med Genet 1995; 32: 759. doi:10.1136/jmg.32.9.759 [PDF] [Request Permissions]

Hereditary Hearing Loss and its Syndromes
Willie Reardon
J Med Genet 1995; 32: 760. doi:10.1136/jmg.32.9.760 [PDF] [Request Permissions]

Research Article

The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.
C Wallgren-Pettersson, A Clarke, F Samson, M Fardeau, V Dubowitz, H Moser, T Grimm, R J Barohn, and P G Barth
J Med Genet 1995; 32: 673-679. doi:10.1136/jmg.32.9.673 [Abstract] [PDF] [Request Permissions]

The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations.
M Tuchman, H Morizono, O Reish, X Yuan, and N M Allewell
J Med Genet 1995; 32: 680-688. doi:10.1136/jmg.32.9.680 [Abstract] [PDF] [Request Permissions]

Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy.
A López de Munain, A M Cobo, J J Poza, D Navarrete, L Martorell, F Palau, J I Emparanza, and M Baiget
J Med Genet 1995; 32: 689-691. doi:10.1136/jmg.32.9.689 [Abstract] [PDF] [Request Permissions]

Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome.
I Borg, J D Delhanty, and M Baraitser
J Med Genet 1995; 32: 692-696. doi:10.1136/jmg.32.9.692 [Abstract] [PDF] [Request Permissions]

Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I.
M C Willing, R L Slayton, S H Pitts, and S P Deschenes
J Med Genet 1995; 32: 697-700. doi:10.1136/jmg.32.9.697 [Abstract] [PDF] [Request Permissions]

Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease.
N Masuda, J Goto, N Murayama, M Watanabe, I Kondo, and I Kanazawa
J Med Genet 1995; 32: 701-705. doi:10.1136/jmg.32.9.701 [Abstract] [PDF] [Request Permissions]

Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.
M Upadhyaya, J Maynard, M Osborn, S M Huson, M Ponder, B A Ponder, and P S Harper
J Med Genet 1995; 32: 706-710. doi:10.1136/jmg.32.9.706 [Abstract] [PDF] [Request Permissions]

Clinical features of nine males with molecularly defined deletions of the Y chromosome long arm.
P Salo, J Ignatius, K O Simola, E Tahvanainen, and H Kääriäinen
J Med Genet 1995; 32: 711-715. doi:10.1136/jmg.32.9.711 [Abstract] [PDF] [Request Permissions]

Twenty-four cases of the EEC syndrome: clinical presentation and management.
P W Buss, H E Hughes, and A Clarke
J Med Genet 1995; 32: 716-723. doi:10.1136/jmg.32.9.716 [Abstract] [PDF] [Request Permissions]

Fetal valproate syndrome.
J Clayton-Smith and D Donnai
J Med Genet 1995; 32: 724-727. doi:10.1136/jmg.32.9.724 [PDF] [Request Permissions]

Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis.
D J Bunyan, J Shea-Simonds, A C Reck, D Finnis, and D M Eccles
J Med Genet 1995; 32: 728-731. doi:10.1136/jmg.32.9.728 [Abstract] [PDF] [Request Permissions]

Mitochondrial DNA does not appear to influence the congenital onset type of myotonic dystrophy.
J Poulton, H G Harley, J Dasmahapatra, G K Brown, C G Potter, and B Sykes
J Med Genet 1995; 32: 732-735. doi:10.1136/jmg.32.9.732 [Abstract] [PDF] [Request Permissions]

Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.
J C Oosterwijk, M J van der Wielen, E van de Vosse, E Voorhoeve, and E Bakker
J Med Genet 1995; 32: 736-739. doi:10.1136/jmg.32.9.736 [Abstract] [PDF] [Request Permissions]

Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.
A Chabás, B Cormand, D Grinberg, J M Burguera, S Balcells, J L Merino, I Mate, J A Sobrino, R Gonzàlez-Duarte, and L Vilageliu
J Med Genet 1995; 32: 740-742. doi:10.1136/jmg.32.9.740 [Abstract] [PDF] [Request Permissions]

Vaginal rhabdomyosarcoma in a patient with Noonan syndrome.
S Khan, H McDowell, M Upadhyaya, and A Fryer
J Med Genet 1995; 32: 743-745. doi:10.1136/jmg.32.9.743 [Abstract] [PDF] [Request Permissions]

Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.
J Goodship, I Cross, P Scambler, and J Burn
J Med Genet 1995; 32: 746-748. doi:10.1136/jmg.32.9.746 [Abstract] [PDF] [Request Permissions]

Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa.
M G Dunnill, C H Rodeck, A J Richards, D Atherton, B D Lake, M Petrou, R A Eady, and F M Pope
J Med Genet 1995; 32: 749-750. doi:10.1136/jmg.32.9.749 [Abstract] [PDF] [Request Permissions]

Research in canine and human genetic disease.
D R Sargan
J Med Genet 1995; 32: 751-754. doi:10.1136/jmg.32.9.751 [PDF] [Request Permissions]

Prenatal diagnosis of X linked lymphoproliferative disease using multiplex polymerase chain reaction.
V Schuster, S Seidenspinner, and H W Kreth
J Med Genet 1995; 32: 756-757. doi:10.1136/jmg.32.9.756 [PDF] [Request Permissions]

A variant of Wiskott-Aldrich syndrome with nephropathy is linked to DXS255.
C P Bennett, A J Barnicoat, F Cotter, Q Wang, and C G Mathew
J Med Genet 1995; 32: 757-758. doi:10.1136/jmg.32.9.757 [PDF] [Request Permissions]

Direct marketing of cystic fibrosis carrier screening: commercial push or population need?
H Cuckle, R Lilford, J Wilson, and I Sehmi
J Med Genet 1995; 32: 758. doi:10.1136/jmg.32.9.758 [PDF] [Request Permissions]

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	Medical genetics: advances in brief: The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling Frances Flinter J Med Genet 1995; 32: 755. doi:10.1136/jmg.32.9.755 [PDF] [Request Permissions]

	Medical genetics: advances in brief: KAI1, a metastasis suppressor gene for prostate cancer on human chromosome 11p11.2 John C K Barber J Med Genet 1995; 32: 755. doi:10.1136/jmg.32.9.755-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Rapid antibody test for fragile X syndrome Angela Barnicoat J Med Genet 1995; 32: 755. doi:10.1136/jmg.32.9.755-b [PDF] [Request Permissions]

	Cell Biology: a Laboratory Handbook Ann Harris J Med Genet 1995; 32: 759. doi:10.1136/jmg.32.9.759 [PDF] [Request Permissions]

	Hereditary Hearing Loss and its Syndromes Willie Reardon J Med Genet 1995; 32: 760. doi:10.1136/jmg.32.9.760 [PDF] [Request Permissions]

	The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. C Wallgren-Pettersson, A Clarke, F Samson, M Fardeau, V Dubowitz, H Moser, T Grimm, R J Barohn, and P G Barth J Med Genet 1995; 32: 673-679. doi:10.1136/jmg.32.9.673 [Abstract] [PDF] [Request Permissions]

	The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations. M Tuchman, H Morizono, O Reish, X Yuan, and N M Allewell J Med Genet 1995; 32: 680-688. doi:10.1136/jmg.32.9.680 [Abstract] [PDF] [Request Permissions]

	Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy. A López de Munain, A M Cobo, J J Poza, D Navarrete, L Martorell, F Palau, J I Emparanza, and M Baiget J Med Genet 1995; 32: 689-691. doi:10.1136/jmg.32.9.689 [Abstract] [PDF] [Request Permissions]

	Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome. I Borg, J D Delhanty, and M Baraitser J Med Genet 1995; 32: 692-696. doi:10.1136/jmg.32.9.692 [Abstract] [PDF] [Request Permissions]

	Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I. M C Willing, R L Slayton, S H Pitts, and S P Deschenes J Med Genet 1995; 32: 697-700. doi:10.1136/jmg.32.9.697 [Abstract] [PDF] [Request Permissions]

	Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease. N Masuda, J Goto, N Murayama, M Watanabe, I Kondo, and I Kanazawa J Med Genet 1995; 32: 701-705. doi:10.1136/jmg.32.9.701 [Abstract] [PDF] [Request Permissions]

	Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene. M Upadhyaya, J Maynard, M Osborn, S M Huson, M Ponder, B A Ponder, and P S Harper J Med Genet 1995; 32: 706-710. doi:10.1136/jmg.32.9.706 [Abstract] [PDF] [Request Permissions]

	Clinical features of nine males with molecularly defined deletions of the Y chromosome long arm. P Salo, J Ignatius, K O Simola, E Tahvanainen, and H Kääriäinen J Med Genet 1995; 32: 711-715. doi:10.1136/jmg.32.9.711 [Abstract] [PDF] [Request Permissions]

	Twenty-four cases of the EEC syndrome: clinical presentation and management. P W Buss, H E Hughes, and A Clarke J Med Genet 1995; 32: 716-723. doi:10.1136/jmg.32.9.716 [Abstract] [PDF] [Request Permissions]

	Fetal valproate syndrome. J Clayton-Smith and D Donnai J Med Genet 1995; 32: 724-727. doi:10.1136/jmg.32.9.724 [PDF] [Request Permissions]

	Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis. D J Bunyan, J Shea-Simonds, A C Reck, D Finnis, and D M Eccles J Med Genet 1995; 32: 728-731. doi:10.1136/jmg.32.9.728 [Abstract] [PDF] [Request Permissions]

	Mitochondrial DNA does not appear to influence the congenital onset type of myotonic dystrophy. J Poulton, H G Harley, J Dasmahapatra, G K Brown, C G Potter, and B Sykes J Med Genet 1995; 32: 732-735. doi:10.1136/jmg.32.9.732 [Abstract] [PDF] [Request Permissions]

	Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2. J C Oosterwijk, M J van der Wielen, E van de Vosse, E Voorhoeve, and E Bakker J Med Genet 1995; 32: 736-739. doi:10.1136/jmg.32.9.736 [Abstract] [PDF] [Request Permissions]

	Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. A Chabás, B Cormand, D Grinberg, J M Burguera, S Balcells, J L Merino, I Mate, J A Sobrino, R Gonzàlez-Duarte, and L Vilageliu J Med Genet 1995; 32: 740-742. doi:10.1136/jmg.32.9.740 [Abstract] [PDF] [Request Permissions]

	Vaginal rhabdomyosarcoma in a patient with Noonan syndrome. S Khan, H McDowell, M Upadhyaya, and A Fryer J Med Genet 1995; 32: 743-745. doi:10.1136/jmg.32.9.743 [Abstract] [PDF] [Request Permissions]

	Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J Goodship, I Cross, P Scambler, and J Burn J Med Genet 1995; 32: 746-748. doi:10.1136/jmg.32.9.746 [Abstract] [PDF] [Request Permissions]

	Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa. M G Dunnill, C H Rodeck, A J Richards, D Atherton, B D Lake, M Petrou, R A Eady, and F M Pope J Med Genet 1995; 32: 749-750. doi:10.1136/jmg.32.9.749 [Abstract] [PDF] [Request Permissions]

	Research in canine and human genetic disease. D R Sargan J Med Genet 1995; 32: 751-754. doi:10.1136/jmg.32.9.751 [PDF] [Request Permissions]

	Prenatal diagnosis of X linked lymphoproliferative disease using multiplex polymerase chain reaction. V Schuster, S Seidenspinner, and H W Kreth J Med Genet 1995; 32: 756-757. doi:10.1136/jmg.32.9.756 [PDF] [Request Permissions]

	A variant of Wiskott-Aldrich syndrome with nephropathy is linked to DXS255. C P Bennett, A J Barnicoat, F Cotter, Q Wang, and C G Mathew J Med Genet 1995; 32: 757-758. doi:10.1136/jmg.32.9.757 [PDF] [Request Permissions]

	Direct marketing of cystic fibrosis carrier screening: commercial push or population need? H Cuckle, R Lilford, J Wilson, and I Sehmi J Med Genet 1995; 32: 758. doi:10.1136/jmg.32.9.758 [PDF] [Request Permissions]