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December 1996 (Volume 33, Number 12). [Index by author]

		Abstracts Book Reviews Letters to the Editor Research Article

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Abstracts

Medical genetics: advances in brief: Specificity, sensitivity, and predictive value of apolipoprotein-E genotyping for sporadic Alzheimer's disease.
Angela Barnicoat
J Med Genet 1996; 33: 1050. doi:10.1136/jmg.33.12.1050 [PDF] [Request Permissions]

Medical genetics: advances in brief: Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease
Frances Flinter
J Med Genet 1996; 33: 1050. doi:10.1136/jmg.33.12.1050-a [PDF] [Request Permissions]

Book Reviews

Look Back to the Future. The Cells of the Body: A History of Somatic Cell Genetics
Veronica Van Heyningen
J Med Genet 1996; 33: 1054. doi:10.1136/jmg.33.12.1054 [PDF] [Request Permissions]

Transcription Factors
Ross Hawkins
J Med Genet 1996; 33: 1054. doi:10.1136/jmg.33.12.1054-a [PDF] [Request Permissions]

The Effects of Drugs on the Fetus and Nursing Infant
Helen Firth
J Med Genet 1996; 33: 1055. doi:10.1136/jmg.33.12.1055 [PDF] [Request Permissions]

Letters to the Editor

Letters to the Editor
J Med Genet 1996; 33: 1052. doi:10.1136/jmg.33.12.1052-a [PDF] [Request Permissions]

Research Article

Cancer families: what risks are they given and do the risks affect management?
E M Rosser, J A Hurst, and C J Chapman
J Med Genet 1996; 33: 977-980. doi:10.1136/jmg.33.12.977 [Abstract] [PDF] [Request Permissions]

Microsatellite instability in early onset and familial colorectal cancer.
C Brassett, J A Joyce, N J Froggatt, G Williams, D Furniss, S Walsh, R Miller, D G Evans, and E R Maher
J Med Genet 1996; 33: 981-985. doi:10.1136/jmg.33.12.981 [Abstract] [PDF] [Request Permissions]

Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.
C A Joyce, B Zorich, S J Pike, J C Barber, and N R Dennis
J Med Genet 1996; 33: 986-992. doi:10.1136/jmg.33.12.986 [Abstract] [PDF] [Request Permissions]

Fine mapping of the dyskeratosis congenita locus in Xq28.
S W Knight, T Vulliamy, G L Forni, D Oscier, P J Mason, and I Dokal
J Med Genet 1996; 33: 993-995. doi:10.1136/jmg.33.12.993 [Abstract] [PDF] [Request Permissions]

Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25.
A Raas-Rothschild, S Manouvrier, M Gonzales, J P Farriaux, S Lyonnet, and A Munnich
J Med Genet 1996; 33: 996-1001. doi:10.1136/jmg.33.12.996 [Abstract] [PDF] [Request Permissions]

The tRNA(Gln) 4336 mitochondrial DNA variant is not a high penetrance mutation which predisposes to dementia before the age of 75 years.
C Tysoe, D Robinson, C Brayne, T Dening, E S Paykel, F A Huppert, and D C Rubinsztein
J Med Genet 1996; 33: 1002-1006. doi:10.1136/jmg.33.12.1002 [Abstract] [PDF] [Request Permissions]

Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.
B B de Vries, C C Jansen, A A Duits, C Verheij, R Willemsen, J O van Hemel, A M van den Ouweland, M F Niermeijer, B A Oostra, and D J Halley
J Med Genet 1996; 33: 1007-1010. doi:10.1136/jmg.33.12.1007 [Abstract] [PDF] [Request Permissions]

Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis.
T Kubota, S Aradhya, M Macha, A C Smith, L C Surh, J Satish, M S Verp, H L Nee, A Johnson, S L Christan, and D H Ledbetter
J Med Genet 1996; 33: 1011-1014. doi:10.1136/jmg.33.12.1011 [Abstract] [PDF] [Request Permissions]

Unexpected HLA haplotype sharing in dizygotic twin pairs discordant for rheumatoid arthritis.
D Jawaheer, A J MacGregor, P K Gregersen, A J Silman, and W E Ollier
J Med Genet 1996; 33: 1015-1018. doi:10.1136/jmg.33.12.1015 [Abstract] [PDF] [Request Permissions]

Evidence for compound heterozygosity causing mild and severe forms of autosomal recessive spinal muscular atrophy.
K Talbot, N Rodrigues, G Bernert, R Bittner, and K Davies
J Med Genet 1996; 33: 1019-1021. doi:10.1136/jmg.33.12.1019 [Abstract] [PDF] [Request Permissions]

A general method for the detection of large CAG repeat expansions by fluorescent PCR.
J P Warner, L H Barron, D Goudie, K Kelly, D Dow, D R Fitzpatrick, and D J Brock
J Med Genet 1996; 33: 1022-1026. doi:10.1136/jmg.33.12.1022 [Abstract] [PDF] [Request Permissions]

Identification of carriers of Duchenne/Becker muscular dystrophy by a novel method based on detection of junction fragments in the dystrophin gene.
H Yamagishi, S Kato, Y Hiraishi, T Ishihara, J Hata, N Matsuo, and T Takano
J Med Genet 1996; 33: 1027-1031. doi:10.1136/jmg.33.12.1027 [Abstract] [PDF] [Request Permissions]

Lay understanding of genetics: a test of a hypothesis.
M Richards and M Ponder
J Med Genet 1996; 33: 1032-1036. doi:10.1136/jmg.33.12.1032 [Abstract] [PDF] [Request Permissions]

Pendred syndrome.
W Reardon and R C Trembath
J Med Genet 1996; 33: 1037-1040. doi:10.1136/jmg.33.12.1037 [PDF] [Request Permissions]

Rapid diagnostic test for the major mutation underlying Batten disease.
I Järvelä, H M Mitchison, P B Munroe, A M O'Rawe, S E Mole, and A C Syvänen
J Med Genet 1996; 33: 1041-1042. doi:10.1136/jmg.33.12.1041 [Abstract] [PDF] [Request Permissions]

Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31.
D Avramopoulos, G Kitsos, E Economou-Petersen, M Grigoriadou, D Vassilopoulos, C Papageorgiou, K Psilas, and M B Petersen
J Med Genet 1996; 33: 1043-1044. doi:10.1136/jmg.33.12.1043 [Abstract] [PDF] [Request Permissions]

Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24).
B R Haddad, A E Lin, H Wyandt, and A Milunsky
J Med Genet 1996; 33: 1045-1047. doi:10.1136/jmg.33.12.1045 [Abstract] [PDF] [Request Permissions]

Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.
V V Ionasescu, C Searby, and S A Greenberg
J Med Genet 1996; 33: 1048-1049. doi:10.1136/jmg.33.12.1048 [Abstract] [PDF] [Request Permissions]

Marfan syndrome.
G Galasko
J Med Genet 1996; 33: 1051. doi:10.1136/jmg.33.12.1051 [PDF] [Request Permissions]

Selection for presymptomatic testing for Huntington's disease: who decides? A reply from the Victorian Clinical Genetics Service, Murdoch Institute, Melbourne, Australia.
S Mansie, L Sheffield, S Forrest, E Chiu, and J Lloyd
J Med Genet 1996; 33: 1051-1052. doi:10.1136/jmg.33.12.1051-a [PDF] [Request Permissions]

Heterotaxia syndromes and 22q11 deletion.
B Marino, M C Digilio, A Giannotti, and B Dallapiccola
J Med Genet 1996; 33: 1052. doi:10.1136/jmg.33.12.1052 [PDF] [Request Permissions]

First report of three cystic fibrosis patients homozygous for the 1717-1G-->A mutation.
R Padoan, A Giunta, M T Marzano, M Seia, V Raia, M Ferrari, and L Cremonesi
J Med Genet 1996; 33: 1052-1054. doi:10.1136/jmg.33.12.1052-b [PDF] [Request Permissions]

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	Medical genetics: advances in brief: Specificity, sensitivity, and predictive value of apolipoprotein-E genotyping for sporadic Alzheimer's disease. Angela Barnicoat J Med Genet 1996; 33: 1050. doi:10.1136/jmg.33.12.1050 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease Frances Flinter J Med Genet 1996; 33: 1050. doi:10.1136/jmg.33.12.1050-a [PDF] [Request Permissions]

	Look Back to the Future. The Cells of the Body: A History of Somatic Cell Genetics Veronica Van Heyningen J Med Genet 1996; 33: 1054. doi:10.1136/jmg.33.12.1054 [PDF] [Request Permissions]

	Transcription Factors Ross Hawkins J Med Genet 1996; 33: 1054. doi:10.1136/jmg.33.12.1054-a [PDF] [Request Permissions]

	The Effects of Drugs on the Fetus and Nursing Infant Helen Firth J Med Genet 1996; 33: 1055. doi:10.1136/jmg.33.12.1055 [PDF] [Request Permissions]

	Letters to the Editor J Med Genet 1996; 33: 1052. doi:10.1136/jmg.33.12.1052-a [PDF] [Request Permissions]

	Cancer families: what risks are they given and do the risks affect management? E M Rosser, J A Hurst, and C J Chapman J Med Genet 1996; 33: 977-980. doi:10.1136/jmg.33.12.977 [Abstract] [PDF] [Request Permissions]

	Microsatellite instability in early onset and familial colorectal cancer. C Brassett, J A Joyce, N J Froggatt, G Williams, D Furniss, S Walsh, R Miller, D G Evans, and E R Maher J Med Genet 1996; 33: 981-985. doi:10.1136/jmg.33.12.981 [Abstract] [PDF] [Request Permissions]

	Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients. C A Joyce, B Zorich, S J Pike, J C Barber, and N R Dennis J Med Genet 1996; 33: 986-992. doi:10.1136/jmg.33.12.986 [Abstract] [PDF] [Request Permissions]

	Fine mapping of the dyskeratosis congenita locus in Xq28. S W Knight, T Vulliamy, G L Forni, D Oscier, P J Mason, and I Dokal J Med Genet 1996; 33: 993-995. doi:10.1136/jmg.33.12.993 [Abstract] [PDF] [Request Permissions]

	Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25. A Raas-Rothschild, S Manouvrier, M Gonzales, J P Farriaux, S Lyonnet, and A Munnich J Med Genet 1996; 33: 996-1001. doi:10.1136/jmg.33.12.996 [Abstract] [PDF] [Request Permissions]

	The tRNA(Gln) 4336 mitochondrial DNA variant is not a high penetrance mutation which predisposes to dementia before the age of 75 years. C Tysoe, D Robinson, C Brayne, T Dening, E S Paykel, F A Huppert, and D C Rubinsztein J Med Genet 1996; 33: 1002-1006. doi:10.1136/jmg.33.12.1002 [Abstract] [PDF] [Request Permissions]

	Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family. B B de Vries, C C Jansen, A A Duits, C Verheij, R Willemsen, J O van Hemel, A M van den Ouweland, M F Niermeijer, B A Oostra, and D J Halley J Med Genet 1996; 33: 1007-1010. doi:10.1136/jmg.33.12.1007 [Abstract] [PDF] [Request Permissions]

	Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis. T Kubota, S Aradhya, M Macha, A C Smith, L C Surh, J Satish, M S Verp, H L Nee, A Johnson, S L Christan, and D H Ledbetter J Med Genet 1996; 33: 1011-1014. doi:10.1136/jmg.33.12.1011 [Abstract] [PDF] [Request Permissions]

	Unexpected HLA haplotype sharing in dizygotic twin pairs discordant for rheumatoid arthritis. D Jawaheer, A J MacGregor, P K Gregersen, A J Silman, and W E Ollier J Med Genet 1996; 33: 1015-1018. doi:10.1136/jmg.33.12.1015 [Abstract] [PDF] [Request Permissions]

	Evidence for compound heterozygosity causing mild and severe forms of autosomal recessive spinal muscular atrophy. K Talbot, N Rodrigues, G Bernert, R Bittner, and K Davies J Med Genet 1996; 33: 1019-1021. doi:10.1136/jmg.33.12.1019 [Abstract] [PDF] [Request Permissions]

	A general method for the detection of large CAG repeat expansions by fluorescent PCR. J P Warner, L H Barron, D Goudie, K Kelly, D Dow, D R Fitzpatrick, and D J Brock J Med Genet 1996; 33: 1022-1026. doi:10.1136/jmg.33.12.1022 [Abstract] [PDF] [Request Permissions]

	Identification of carriers of Duchenne/Becker muscular dystrophy by a novel method based on detection of junction fragments in the dystrophin gene. H Yamagishi, S Kato, Y Hiraishi, T Ishihara, J Hata, N Matsuo, and T Takano J Med Genet 1996; 33: 1027-1031. doi:10.1136/jmg.33.12.1027 [Abstract] [PDF] [Request Permissions]

	Lay understanding of genetics: a test of a hypothesis. M Richards and M Ponder J Med Genet 1996; 33: 1032-1036. doi:10.1136/jmg.33.12.1032 [Abstract] [PDF] [Request Permissions]

	Pendred syndrome. W Reardon and R C Trembath J Med Genet 1996; 33: 1037-1040. doi:10.1136/jmg.33.12.1037 [PDF] [Request Permissions]

	Rapid diagnostic test for the major mutation underlying Batten disease. I Järvelä, H M Mitchison, P B Munroe, A M O'Rawe, S E Mole, and A C Syvänen J Med Genet 1996; 33: 1041-1042. doi:10.1136/jmg.33.12.1041 [Abstract] [PDF] [Request Permissions]

	Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31. D Avramopoulos, G Kitsos, E Economou-Petersen, M Grigoriadou, D Vassilopoulos, C Papageorgiou, K Psilas, and M B Petersen J Med Genet 1996; 33: 1043-1044. doi:10.1136/jmg.33.12.1043 [Abstract] [PDF] [Request Permissions]

	Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24). B R Haddad, A E Lin, H Wyandt, and A Milunsky J Med Genet 1996; 33: 1045-1047. doi:10.1136/jmg.33.12.1045 [Abstract] [PDF] [Request Permissions]

	Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene. V V Ionasescu, C Searby, and S A Greenberg J Med Genet 1996; 33: 1048-1049. doi:10.1136/jmg.33.12.1048 [Abstract] [PDF] [Request Permissions]

	Marfan syndrome. G Galasko J Med Genet 1996; 33: 1051. doi:10.1136/jmg.33.12.1051 [PDF] [Request Permissions]

	Selection for presymptomatic testing for Huntington's disease: who decides? A reply from the Victorian Clinical Genetics Service, Murdoch Institute, Melbourne, Australia. S Mansie, L Sheffield, S Forrest, E Chiu, and J Lloyd J Med Genet 1996; 33: 1051-1052. doi:10.1136/jmg.33.12.1051-a [PDF] [Request Permissions]

	Heterotaxia syndromes and 22q11 deletion. B Marino, M C Digilio, A Giannotti, and B Dallapiccola J Med Genet 1996; 33: 1052. doi:10.1136/jmg.33.12.1052 [PDF] [Request Permissions]

	First report of three cystic fibrosis patients homozygous for the 1717-1G-->A mutation. R Padoan, A Giunta, M T Marzano, M Seia, V Raia, M Ferrari, and L Cremonesi J Med Genet 1996; 33: 1052-1054. doi:10.1136/jmg.33.12.1052-b [PDF] [Request Permissions]