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November 1996 (Volume 33, Number 11). [Index by author]

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Abstracts

Medical genetics: advances in brief: Evidence for genetic basis of multiple sclerosis
Angela Barnicoat
J Med Genet 1996; 33: 975. doi:10.1136/jmg.33.11.975 [PDF] [Request Permissions]

Medical genetics: advances in brief: Human homolog of patched, a candidate gene for the basal cell nevus syndrome
John C K Barber
J Med Genet 1996; 33: 975. doi:10.1136/jmg.33.11.975-a [PDF] [Request Permissions]

Medical genetics: advances in brief: X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene
Frances Flinter
J Med Genet 1996; 33: 975. doi:10.1136/jmg.33.11.975-b [PDF] [Request Permissions]

Book Reviews

The Genetical Analysis of Quantitative Traits
Martin Farrall
J Med Genet 1996; 33: 976. doi:10.1136/jmg.33.11.976 [PDF] [Request Permissions]

Variation in the Human Genome
David N Cooper
J Med Genet 1996; 33: 976. doi:10.1136/jmg.33.11.976-a [PDF] [Request Permissions]

Research Article

Pancreatic adenocarcinoma: epidemiology and genetics.
T Y Flanders and W D Foulkes
J Med Genet 1996; 33: 889-898. doi:10.1136/jmg.33.11.889 [Abstract] [PDF] [Request Permissions]

Linkage and association of the HLA gene complex with IDDM in 81 Danish families: strong linkage between DR beta 1Lys71+ and IDDM.
M Zamani, F Pociot, M Spaepen, P Raeymaekers, J Nerup, and J J Cassiman
J Med Genet 1996; 33: 899-905. doi:10.1136/jmg.33.11.899 [Abstract] [PDF] [Request Permissions]

Xp pseudoautosomal gene haploinsufficiency and linear growth deficiency in three girls with chromosome Xp22;Yq11 translocation.
M Joseph, E S Cantú, G S Pai, S M Willi, P R Papenhausen, and L Weiss
J Med Genet 1996; 33: 906-911. doi:10.1136/jmg.33.11.906 [Abstract] [PDF] [Request Permissions]

Huntington's disease predictive testing: the case for an assessment approach to requests from adolescents.
J Binedell, J R Soldan, J Scourfield, and P S Harper
J Med Genet 1996; 33: 912-918. doi:10.1136/jmg.33.11.912 [Abstract] [PDF] [Request Permissions]

Improved genetic mapping of X linked retinoschisis.
N D George, S J Payne, R M Bill, D E Barton, A T Moore, and J R Yates
J Med Genet 1996; 33: 919-922. doi:10.1136/jmg.33.11.919 [Abstract] [PDF] [Request Permissions]

Three histopathological types of retinoblastoma and their relation to heredity and age of enucleation.
A C Moll, J W Koten, D A Lindenmayer, L A Everse, K E Tan, A Hamburg, J A Faber, and W Den Otter
J Med Genet 1996; 33: 923-927. doi:10.1136/jmg.33.11.923 [Abstract] [PDF] [Request Permissions]

Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity.
B Kerr, G S Ashcroft, D Scott, M A Horan, M W Ferguson, and D Donnai
J Med Genet 1996; 33: 928-934. doi:10.1136/jmg.33.11.928 [Abstract] [PDF] [Request Permissions]

Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD.
P A Roest, M Bout, A C van der Tuijn, I B Ginjaar, E Bakker, F B Hogervorst, G J van Ommen, and J T den Dunnen
J Med Genet 1996; 33: 935-939. doi:10.1136/jmg.33.11.935 [Abstract] [PDF] [Request Permissions]

An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
A C Nicholls, J E Oliver, S McCarron, J B Harrison, D S Greenspan, and F M Pope
J Med Genet 1996; 33: 940-946. doi:10.1136/jmg.33.11.940 [Abstract] [PDF] [Request Permissions]

Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.
L G Biesecker, S Kang, A A Schäffer, M Abbott, R I Kelley, J C Allen, C Clericuzio, T Grebe, A Olney, and J M Graham, Jr
J Med Genet 1996; 33: 947-951. doi:10.1136/jmg.33.11.947 [Abstract] [PDF] [Request Permissions]

Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22.
A J Dawson, A J Mears, A E Chudley, T Bech-Hansen, and H McDermid
J Med Genet 1996; 33: 952-956. doi:10.1136/jmg.33.11.952 [Abstract] [PDF] [Request Permissions]

Achondrogenesis type 1B.
A Superti-Furga
J Med Genet 1996; 33: 957-961. doi:10.1136/jmg.33.11.957 [PDF] [Request Permissions]

Loss of heterozygosity in tuberous sclerosis hamartomas.
T Sepp, J R Yates, and A J Green
J Med Genet 1996; 33: 962-964. doi:10.1136/jmg.33.11.962 [Abstract] [PDF] [Request Permissions]

The phenotypic features of osteogenesis imperfecta resulting from a mutation of the carboxyl-terminal pro alpha 1 (I) propeptide that impairs the assembly of type I procollagen and formation of the extracellular matrix.
W G Cole, C W Chow, J F Bateman, and D O Sillence
J Med Genet 1996; 33: 965-967. doi:10.1136/jmg.33.11.965 [Abstract] [PDF] [Request Permissions]

Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the alpha 2 (I) chain of type I collagen.
W G Cole, D Chan, C W Chow, J G Rogers, and J F Bateman
J Med Genet 1996; 33: 968-971. doi:10.1136/jmg.33.11.968 [Abstract] [PDF] [Request Permissions]

An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis.
A D Irvine, O M Dolan, D R Hadden, F J Stewart, E A Bingham, and N C Nevin
J Med Genet 1996; 33: 972-974. doi:10.1136/jmg.33.11.972 [Abstract] [PDF] [Request Permissions]

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	Medical genetics: advances in brief: Evidence for genetic basis of multiple sclerosis Angela Barnicoat J Med Genet 1996; 33: 975. doi:10.1136/jmg.33.11.975 [PDF] [Request Permissions]

	*Medical genetics: advances in brief: Human homolog of patched,* a candidate gene for the basal cell nevus syndrome** John C K Barber J Med Genet 1996; 33: 975. doi:10.1136/jmg.33.11.975-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene Frances Flinter J Med Genet 1996; 33: 975. doi:10.1136/jmg.33.11.975-b [PDF] [Request Permissions]

	The Genetical Analysis of Quantitative Traits Martin Farrall J Med Genet 1996; 33: 976. doi:10.1136/jmg.33.11.976 [PDF] [Request Permissions]

	Variation in the Human Genome David N Cooper J Med Genet 1996; 33: 976. doi:10.1136/jmg.33.11.976-a [PDF] [Request Permissions]

	Pancreatic adenocarcinoma: epidemiology and genetics. T Y Flanders and W D Foulkes J Med Genet 1996; 33: 889-898. doi:10.1136/jmg.33.11.889 [Abstract] [PDF] [Request Permissions]

	Linkage and association of the HLA gene complex with IDDM in 81 Danish families: strong linkage between DR beta 1Lys71+ and IDDM. M Zamani, F Pociot, M Spaepen, P Raeymaekers, J Nerup, and J J Cassiman J Med Genet 1996; 33: 899-905. doi:10.1136/jmg.33.11.899 [Abstract] [PDF] [Request Permissions]

	Xp pseudoautosomal gene haploinsufficiency and linear growth deficiency in three girls with chromosome Xp22;Yq11 translocation. M Joseph, E S Cantú, G S Pai, S M Willi, P R Papenhausen, and L Weiss J Med Genet 1996; 33: 906-911. doi:10.1136/jmg.33.11.906 [Abstract] [PDF] [Request Permissions]

	Huntington's disease predictive testing: the case for an assessment approach to requests from adolescents. J Binedell, J R Soldan, J Scourfield, and P S Harper J Med Genet 1996; 33: 912-918. doi:10.1136/jmg.33.11.912 [Abstract] [PDF] [Request Permissions]

	Improved genetic mapping of X linked retinoschisis. N D George, S J Payne, R M Bill, D E Barton, A T Moore, and J R Yates J Med Genet 1996; 33: 919-922. doi:10.1136/jmg.33.11.919 [Abstract] [PDF] [Request Permissions]

	Three histopathological types of retinoblastoma and their relation to heredity and age of enucleation. A C Moll, J W Koten, D A Lindenmayer, L A Everse, K E Tan, A Hamburg, J A Faber, and W Den Otter J Med Genet 1996; 33: 923-927. doi:10.1136/jmg.33.11.923 [Abstract] [PDF] [Request Permissions]

	Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity. B Kerr, G S Ashcroft, D Scott, M A Horan, M W Ferguson, and D Donnai J Med Genet 1996; 33: 928-934. doi:10.1136/jmg.33.11.928 [Abstract] [PDF] [Request Permissions]

	Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD. P A Roest, M Bout, A C van der Tuijn, I B Ginjaar, E Bakker, F B Hogervorst, G J van Ommen, and J T den Dunnen J Med Genet 1996; 33: 935-939. doi:10.1136/jmg.33.11.935 [Abstract] [PDF] [Request Permissions]

	An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome. A C Nicholls, J E Oliver, S McCarron, J B Harrison, D S Greenspan, and F M Pope J Med Genet 1996; 33: 940-946. doi:10.1136/jmg.33.11.940 [Abstract] [PDF] [Request Permissions]

	Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome. L G Biesecker, S Kang, A A Schäffer, M Abbott, R I Kelley, J C Allen, C Clericuzio, T Grebe, A Olney, and J M Graham, Jr J Med Genet 1996; 33: 947-951. doi:10.1136/jmg.33.11.947 [Abstract] [PDF] [Request Permissions]

	Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22. A J Dawson, A J Mears, A E Chudley, T Bech-Hansen, and H McDermid J Med Genet 1996; 33: 952-956. doi:10.1136/jmg.33.11.952 [Abstract] [PDF] [Request Permissions]

	Achondrogenesis type 1B. A Superti-Furga J Med Genet 1996; 33: 957-961. doi:10.1136/jmg.33.11.957 [PDF] [Request Permissions]

	Loss of heterozygosity in tuberous sclerosis hamartomas. T Sepp, J R Yates, and A J Green J Med Genet 1996; 33: 962-964. doi:10.1136/jmg.33.11.962 [Abstract] [PDF] [Request Permissions]

	The phenotypic features of osteogenesis imperfecta resulting from a mutation of the carboxyl-terminal pro alpha 1 (I) propeptide that impairs the assembly of type I procollagen and formation of the extracellular matrix. W G Cole, C W Chow, J F Bateman, and D O Sillence J Med Genet 1996; 33: 965-967. doi:10.1136/jmg.33.11.965 [Abstract] [PDF] [Request Permissions]

	Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the alpha 2 (I) chain of type I collagen. W G Cole, D Chan, C W Chow, J G Rogers, and J F Bateman J Med Genet 1996; 33: 968-971. doi:10.1136/jmg.33.11.968 [Abstract] [PDF] [Request Permissions]

	An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis. A D Irvine, O M Dolan, D R Hadden, F J Stewart, E A Bingham, and N C Nevin J Med Genet 1996; 33: 972-974. doi:10.1136/jmg.33.11.972 [Abstract] [PDF] [Request Permissions]