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July 1995 (Volume 32, Number 7). [Index by author]

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Abstracts

Medical genetics: advances in brief
Angela Barnicoat
J Med Genet 1995; 32: 576. doi:10.1136/jmg.32.7.576 [PDF] [Request Permissions]

Medical genetics: advances in brief: Prenatal genetic counselling for hemoglobinopathy carriers: a comparison of primary providers of prenatal care and professional genetic counselors
Frances Flinter
J Med Genet 1995; 32: 576. doi:10.1136/jmg.32.7.576-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation
John C K Barber
J Med Genet 1995; 32: 576. doi:10.1136/jmg.32.7.576-b [PDF] [Request Permissions]

Book Reviews

Muscular Dystrophy—The Facts
David Hilton-Jones
J Med Genet 1995; 32: 581. doi:10.1136/jmg.32.7.581 [PDF] [Request Permissions]

Currnet Protocols in Human Genetics
L Kearney, A Walley, C Ward, and A Harris
J Med Genet 1995; 32: 581-582. doi:10.1136/jmg.32.7.581-a [PDF] [Request Permissions]

Anthropometry: the Individual and the Population
Eric Sunderland
J Med Genet 1995; 32: 582. doi:10.1136/jmg.32.7.582 [PDF] [Request Permissions]

Chromosome Techniques–A Manual
R T Howell
J Med Genet 1995; 32: 582. doi:10.1136/jmg.32.7.582-a [PDF] [Request Permissions]

Identification of Transcribed Sequences
J David Brook
J Med Genet 1995; 32: 582-583. doi:10.1136/jmg.32.7.582-b [PDF] [Request Permissions]

Molecular Genetics of Inherited Eye Disorders
David Taylor
J Med Genet 1995; 32: 583. doi:10.1136/jmg.32.7.583 [PDF] [Request Permissions]

Research Article

HLA-B27 and spondyloarthropathy: value for early diagnosis?
J T Gran and G Husby
J Med Genet 1995; 32: 497-501. doi:10.1136/jmg.32.7.497 [PDF] [Request Permissions]

FISH analysis on spontaneously arising micronuclei in the ICF syndrome.
M Stacey, M S Bennett, and M Hulten
J Med Genet 1995; 32: 502-508. doi:10.1136/jmg.32.7.502 [Abstract] [PDF] [Request Permissions]

Utilities for high throughput use of the single strand conformational polymorphism method: screening of 791 patients with familial hypercholesterolaemia for mutations in exon 3 of the low density lipoprotein receptor gene.
R Whittall, V Gudnason, G P Weavind, L B Day, S E Humphries, and I N Day
J Med Genet 1995; 32: 509-515. doi:10.1136/jmg.32.7.509 [Abstract] [PDF] [Request Permissions]

Emotional and functional impact of DNA testing on patients with symptoms of Huntington's disease.
J Jankovic, J Beach, and T Ashizawa
J Med Genet 1995; 32: 516-518. doi:10.1136/jmg.32.7.516 [Abstract] [PDF] [Request Permissions]

Ascertainment of myotonic dystrophy through cataract by selective screening.
A Kidd, P Turnpenny, K Kelly, C Clark, W Church, C Hutchinson, J C Dean, and N E Haites
J Med Genet 1995; 32: 519-523. doi:10.1136/jmg.32.7.519 [Abstract] [PDF] [Request Permissions]

The epidemiology of Huntington's disease in Northern Ireland.
P J Morrison, W P Johnston, and N C Nevin
J Med Genet 1995; 32: 524-530. doi:10.1136/jmg.32.7.524 [Abstract] [PDF] [Request Permissions]

Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.
G Van Camp, M N Van Thienen, I Handig, B Van Roy, V S Rao, A Milunsky, A P Read, C T Baldwin, L A Farrer, and M Bonduelle
J Med Genet 1995; 32: 531-536. doi:10.1136/jmg.32.7.531 [Abstract] [PDF] [Request Permissions]

The impact of newborn screening on cystic fibrosis testing in Victoria, Australia.
M E Balnaves, L Bonacquisto, I Francis, J Glazner, and S Forrest
J Med Genet 1995; 32: 537-542. doi:10.1136/jmg.32.7.537 [Abstract] [PDF] [Request Permissions]

Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency.
P J Hallam, D S Millar, M Krawczak, V V Kakkar, and D N Cooper
J Med Genet 1995; 32: 543-545. doi:10.1136/jmg.32.7.543 [Abstract] [PDF] [Request Permissions]

Confirmation of genetic heterogeneity in familial psoriasis.
D Matthews, L Fry, A Powles, J Weissenbach, and R Williamson
J Med Genet 1995; 32: 546-548. doi:10.1136/jmg.32.7.546 [Abstract] [PDF] [Request Permissions]

Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.
J C Ruiz, H Cuppens, E Legius, J P Fryns, T Glover, P Marynen, and J J Cassiman
J Med Genet 1995; 32: 549-552. doi:10.1136/jmg.32.7.549 [Abstract] [PDF] [Request Permissions]

Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis).
N Kawate, G B Kletter, B E Wilson, M L Netzloff, and K M Menon
J Med Genet 1995; 32: 553-554. doi:10.1136/jmg.32.7.553 [Abstract] [PDF] [Request Permissions]

Right upper limb bud triplication and polythelia, left sided hemihypertrophy and congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis: disorganisation-like spectrum or patterning gene defect?
M A Sabry, Q al-Saleh, R al-Saw'an, S A al-Awadi, and T I Farag
J Med Genet 1995; 32: 555-556. doi:10.1136/jmg.32.7.555 [Abstract] [PDF] [Request Permissions]

A fetus with an X;1 balanced reciprocal translocation and eye disease.
M J Seller, K Pal, S Horsley, A F Davies, A C Berry, R Meredith, and A C McCartney
J Med Genet 1995; 32: 557-560. doi:10.1136/jmg.32.7.557 [Abstract] [PDF] [Request Permissions]

Cerebellar atrophy in a patient with velocardiofacial syndrome.
D R Lynch, D M McDonald-McGinn, E H Zackai, B S Emanuel, D A Driscoll, L A Whitaker, and K H Fischbeck
J Med Genet 1995; 32: 561-563. doi:10.1136/jmg.32.7.561 [Abstract] [PDF] [Request Permissions]

Molecular analysis of three patients with interstitial deletions of chromosome band 14q31.
B C Byth, M T Costa, I E Teshima, W G Wilson, N P Carter, and D W Cox
J Med Genet 1995; 32: 564-567. doi:10.1136/jmg.32.7.564 [Abstract] [PDF] [Request Permissions]

Rapid detection of rare variants and common polymorphisms in the APC gene by PCR-SSCP for presymptomatic diagnosis and showing allele loss.
S A Gayther, R Sud, D Wells, K Tsioupra, and J D Delhanty
J Med Genet 1995; 32: 568-571. doi:10.1136/jmg.32.7.568 [Abstract] [PDF] [Request Permissions]

Chromosomal localisation of a Y specific growth gene(s).
T Ogata, K Tomita, A Hida, N Matsuo, Y Nakahori, and Y Nakagome
J Med Genet 1995; 32: 572-575. doi:10.1136/jmg.32.7.572 [Abstract] [PDF] [Request Permissions]

High incidence of delta I507 mutation of the CFTR gene in a limited area of the north west of France.
H Mittre, P Leymarie, and N Leporrier
J Med Genet 1995; 32: 577. doi:10.1136/jmg.32.7.577 [PDF] [Request Permissions]

Allele distribution of a highly polymorphic repeat on chromosome 12 in patients with symptoms of chorea and ataxia.
C Zühlke, O Knobloch, S Wagner, and R Hilgers
J Med Genet 1995; 32: 577-578. doi:10.1136/jmg.32.7.577-a [PDF] [Request Permissions]

Detection of Y mosaicism in patients with Turner's syndrome.
C E Chu, J M Connor, M D Donaldson, C J Kelnar, P J Smail, and S A Greene
J Med Genet 1995; 32: 578-580. doi:10.1136/jmg.32.7.578 [PDF] [Request Permissions]

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	Medical genetics: advances in brief Angela Barnicoat J Med Genet 1995; 32: 576. doi:10.1136/jmg.32.7.576 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Prenatal genetic counselling for hemoglobinopathy carriers: a comparison of primary providers of prenatal care and professional genetic counselors Frances Flinter J Med Genet 1995; 32: 576. doi:10.1136/jmg.32.7.576-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation John C K Barber J Med Genet 1995; 32: 576. doi:10.1136/jmg.32.7.576-b [PDF] [Request Permissions]

	Muscular Dystrophy—The Facts David Hilton-Jones J Med Genet 1995; 32: 581. doi:10.1136/jmg.32.7.581 [PDF] [Request Permissions]

	Currnet Protocols in Human Genetics L Kearney, A Walley, C Ward, and A Harris J Med Genet 1995; 32: 581-582. doi:10.1136/jmg.32.7.581-a [PDF] [Request Permissions]

	Anthropometry: the Individual and the Population Eric Sunderland J Med Genet 1995; 32: 582. doi:10.1136/jmg.32.7.582 [PDF] [Request Permissions]

	Chromosome Techniques–A Manual R T Howell J Med Genet 1995; 32: 582. doi:10.1136/jmg.32.7.582-a [PDF] [Request Permissions]

	Identification of Transcribed Sequences J David Brook J Med Genet 1995; 32: 582-583. doi:10.1136/jmg.32.7.582-b [PDF] [Request Permissions]

	Molecular Genetics of Inherited Eye Disorders David Taylor J Med Genet 1995; 32: 583. doi:10.1136/jmg.32.7.583 [PDF] [Request Permissions]

	HLA-B27 and spondyloarthropathy: value for early diagnosis? J T Gran and G Husby J Med Genet 1995; 32: 497-501. doi:10.1136/jmg.32.7.497 [PDF] [Request Permissions]

	FISH analysis on spontaneously arising micronuclei in the ICF syndrome. M Stacey, M S Bennett, and M Hulten J Med Genet 1995; 32: 502-508. doi:10.1136/jmg.32.7.502 [Abstract] [PDF] [Request Permissions]

	Utilities for high throughput use of the single strand conformational polymorphism method: screening of 791 patients with familial hypercholesterolaemia for mutations in exon 3 of the low density lipoprotein receptor gene. R Whittall, V Gudnason, G P Weavind, L B Day, S E Humphries, and I N Day J Med Genet 1995; 32: 509-515. doi:10.1136/jmg.32.7.509 [Abstract] [PDF] [Request Permissions]

	Emotional and functional impact of DNA testing on patients with symptoms of Huntington's disease. J Jankovic, J Beach, and T Ashizawa J Med Genet 1995; 32: 516-518. doi:10.1136/jmg.32.7.516 [Abstract] [PDF] [Request Permissions]

	Ascertainment of myotonic dystrophy through cataract by selective screening. A Kidd, P Turnpenny, K Kelly, C Clark, W Church, C Hutchinson, J C Dean, and N E Haites J Med Genet 1995; 32: 519-523. doi:10.1136/jmg.32.7.519 [Abstract] [PDF] [Request Permissions]

	The epidemiology of Huntington's disease in Northern Ireland. P J Morrison, W P Johnston, and N C Nevin J Med Genet 1995; 32: 524-530. doi:10.1136/jmg.32.7.524 [Abstract] [PDF] [Request Permissions]

	Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q. G Van Camp, M N Van Thienen, I Handig, B Van Roy, V S Rao, A Milunsky, A P Read, C T Baldwin, L A Farrer, and M Bonduelle J Med Genet 1995; 32: 531-536. doi:10.1136/jmg.32.7.531 [Abstract] [PDF] [Request Permissions]

	The impact of newborn screening on cystic fibrosis testing in Victoria, Australia. M E Balnaves, L Bonacquisto, I Francis, J Glazner, and S Forrest J Med Genet 1995; 32: 537-542. doi:10.1136/jmg.32.7.537 [Abstract] [PDF] [Request Permissions]

	Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency. P J Hallam, D S Millar, M Krawczak, V V Kakkar, and D N Cooper J Med Genet 1995; 32: 543-545. doi:10.1136/jmg.32.7.543 [Abstract] [PDF] [Request Permissions]

	Confirmation of genetic heterogeneity in familial psoriasis. D Matthews, L Fry, A Powles, J Weissenbach, and R Williamson J Med Genet 1995; 32: 546-548. doi:10.1136/jmg.32.7.546 [Abstract] [PDF] [Request Permissions]

	Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. J C Ruiz, H Cuppens, E Legius, J P Fryns, T Glover, P Marynen, and J J Cassiman J Med Genet 1995; 32: 549-552. doi:10.1136/jmg.32.7.549 [Abstract] [PDF] [Request Permissions]

	Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis). N Kawate, G B Kletter, B E Wilson, M L Netzloff, and K M Menon J Med Genet 1995; 32: 553-554. doi:10.1136/jmg.32.7.553 [Abstract] [PDF] [Request Permissions]

	Right upper limb bud triplication and polythelia, left sided hemihypertrophy and congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis: disorganisation-like spectrum or patterning gene defect? M A Sabry, Q al-Saleh, R al-Saw'an, S A al-Awadi, and T I Farag J Med Genet 1995; 32: 555-556. doi:10.1136/jmg.32.7.555 [Abstract] [PDF] [Request Permissions]

	A fetus with an X;1 balanced reciprocal translocation and eye disease. M J Seller, K Pal, S Horsley, A F Davies, A C Berry, R Meredith, and A C McCartney J Med Genet 1995; 32: 557-560. doi:10.1136/jmg.32.7.557 [Abstract] [PDF] [Request Permissions]

	Cerebellar atrophy in a patient with velocardiofacial syndrome. D R Lynch, D M McDonald-McGinn, E H Zackai, B S Emanuel, D A Driscoll, L A Whitaker, and K H Fischbeck J Med Genet 1995; 32: 561-563. doi:10.1136/jmg.32.7.561 [Abstract] [PDF] [Request Permissions]

	Molecular analysis of three patients with interstitial deletions of chromosome band 14q31. B C Byth, M T Costa, I E Teshima, W G Wilson, N P Carter, and D W Cox J Med Genet 1995; 32: 564-567. doi:10.1136/jmg.32.7.564 [Abstract] [PDF] [Request Permissions]

	Rapid detection of rare variants and common polymorphisms in the APC gene by PCR-SSCP for presymptomatic diagnosis and showing allele loss. S A Gayther, R Sud, D Wells, K Tsioupra, and J D Delhanty J Med Genet 1995; 32: 568-571. doi:10.1136/jmg.32.7.568 [Abstract] [PDF] [Request Permissions]

	Chromosomal localisation of a Y specific growth gene(s). T Ogata, K Tomita, A Hida, N Matsuo, Y Nakahori, and Y Nakagome J Med Genet 1995; 32: 572-575. doi:10.1136/jmg.32.7.572 [Abstract] [PDF] [Request Permissions]

	High incidence of delta I507 mutation of the CFTR gene in a limited area of the north west of France. H Mittre, P Leymarie, and N Leporrier J Med Genet 1995; 32: 577. doi:10.1136/jmg.32.7.577 [PDF] [Request Permissions]

	Allele distribution of a highly polymorphic repeat on chromosome 12 in patients with symptoms of chorea and ataxia. C Zühlke, O Knobloch, S Wagner, and R Hilgers J Med Genet 1995; 32: 577-578. doi:10.1136/jmg.32.7.577-a [PDF] [Request Permissions]

	Detection of Y mosaicism in patients with Turner's syndrome. C E Chu, J M Connor, M D Donaldson, C J Kelnar, P J Smail, and S A Greene J Med Genet 1995; 32: 578-580. doi:10.1136/jmg.32.7.578 [PDF] [Request Permissions]