J Med Genet -- Table of Contents (32 [5])

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May 1995 (Volume 32, Number 5). [Index by author]

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Abstracts

Medical genetics: advances in brief: Congenital bilateral absence of vas deferens in the absence of cystic fibrosis
Angela Barnicoat
J Med Genet 1995; 32: 403. doi:10.1136/jmg.32.5.403 [PDF] [Request Permissions]

Medical genetics: advances in brief: Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
John Barber
J Med Genet 1995; 32: 403. doi:10.1136/jmg.32.5.403-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Bone marrow transplantation for autosomal recessive osteopetrosis
Jill Clayton-Smith
J Med Genet 1995; 32: 403. doi:10.1136/jmg.32.5.403-b [PDF] [Request Permissions]

Medical genetics: advances in brief: Maternal mild hyperphenylalaninaemia: an international survey of offspring outcome
Angela Barnicoat
J Med Genet 1995; 32: 403. doi:10.1136/jmg.32.5.403-c [PDF] [Request Permissions]

Book Reviews

Cystic Fibrosis: Current Topics
Maurice Super
J Med Genet 1995; 32: 408. doi:10.1136/jmg.32.5.408 [PDF] [Request Permissions]

Molecular Genetic Medicine
A O M Wilkie
J Med Genet 1995; 32: 408. doi:10.1136/jmg.32.5.408-a [PDF] [Request Permissions]

Research Article

Editorial postscript: 10 years of change and evolution.
P S Harper
J Med Genet 1995; 32: 329. doi:10.1136/jmg.32.5.329 [PDF] [Request Permissions]

Familial pancreatic adenocarcinoma: association with diabetes and early molecular diagnosis.
J P Evans, W Burke, R Chen, R L Bennett, R A Schmidt, E P Dellinger, M Kimmey, D Crispin, T A Brentnall, and D R Byrd
J Med Genet 1995; 32: 330-335. doi:10.1136/jmg.32.5.330 [Abstract] [PDF] [Request Permissions]

Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.
S Winata, I N Arhya, S Moeljopawiro, J T Hinnant, Y Liang, T B Friedman, and J H Asher, Jr
J Med Genet 1995; 32: 336-343. doi:10.1136/jmg.32.5.336 [Abstract] [PDF] [Request Permissions]

Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study.
U Drugge, M Holmberg, G Holmgren, B G Almay, and H Linderholm
J Med Genet 1995; 32: 344-347. doi:10.1136/jmg.32.5.344 [Abstract] [PDF] [Request Permissions]

Duchenne muscular dystrophy: negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness.
H Jensen, M Warburg, O Sjö, and M Schwartz
J Med Genet 1995; 32: 348-351. doi:10.1136/jmg.32.5.348 [Abstract] [PDF] [Request Permissions]

Genetic linkage analysis in hereditary non-polyposis colon cancer syndrome.
N J Froggatt, J Koch, R Davies, D G Evans, A Clamp, O W Quarrell, J Weissenbach, S V Hodgson, B A Ponder, and D E Barton
J Med Genet 1995; 32: 352-357. doi:10.1136/jmg.32.5.352 [Abstract] [PDF] [Request Permissions]

Cognitive performance in UK sample of presymptomatic people carrying the gene for Huntington's disease.
L Blackmore, S A Simpson, and J R Crawford
J Med Genet 1995; 32: 358-362. doi:10.1136/jmg.32.5.358 [Abstract] [PDF] [Request Permissions]

Association between high serum total IgE levels and D11S97 on chromosome 11q13 in Japanese subjects.
N Hizawa, E Yamaguchi, K Furuya, N Ohnuma, N Kodama, J Kojima, M Ohe, and Y Kawakami
J Med Genet 1995; 32: 363-369. doi:10.1136/jmg.32.5.363 [Abstract] [PDF] [Request Permissions]

Craniometaphyseal dysplasia (CMD), autosomal dominant form.
P Beighton
J Med Genet 1995; 32: 370-374. doi:10.1136/jmg.32.5.370 [PDF] [Request Permissions]

Bilateral split hand/foot malformation and inv(7)(p22q21.3).
J M Cobben, J B Verheij, W H Eisma, P H Robinson, R P Zwierstra, B Leegte, and S Castedo
J Med Genet 1995; 32: 375-378. doi:10.1136/jmg.32.5.375 [Abstract] [PDF] [Request Permissions]

Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation.
L Theart, M J Kotze, E Langenhoven, O Loubser, A V Peeters, C J Lintott, and R S Scott
J Med Genet 1995; 32: 379-382. doi:10.1136/jmg.32.5.379 [Abstract] [PDF] [Request Permissions]

X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.
A K Gedeon, M J Wilson, A C Colley, D O Sillence, and J C Mulley
J Med Genet 1995; 32: 383-388. doi:10.1136/jmg.32.5.383 [Abstract] [PDF] [Request Permissions]

Linkage analysis of a large pedigree with hereditary sideroblastic anaemia.
J S Noble, G R Taylor, M S Losowsky, R Hall, G Turner, R F Mueller, and A D Stewart
J Med Genet 1995; 32: 389-392. doi:10.1136/jmg.32.5.389 [Abstract] [PDF] [Request Permissions]

Phenotypic variability in patients with generalised resistance to thyroid hormone.
J Pohlenz, S Wirth, A Winterpacht, H Wemme, B Zabel, and W Schönberger
J Med Genet 1995; 32: 393-395. doi:10.1136/jmg.32.5.393 [Abstract] [PDF] [Request Permissions]

Oguchi disease: suggestion of linkage to markers on chromosome 2q.
M A Maw, S John, S Jablonka, B Müller, G Kumaramanickavel, R Oehlmann, M J Denton, and A Gal
J Med Genet 1995; 32: 396-398. doi:10.1136/jmg.32.5.396 [Abstract] [PDF] [Request Permissions]

Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes.
C Pêcheux, J F Mouret, A Dürr, Y Agid, J Feingold, A Brice, C Dodé, and J C Kaplan
J Med Genet 1995; 32: 399-400. doi:10.1136/jmg.32.5.399 [Abstract] [PDF] [Request Permissions]

A family study describing second cousins with cystic fibrosis and no common ancestor who is a carrier.
V M Park, M E Smith, M T Knight, and M J Rock
J Med Genet 1995; 32: 401-402. doi:10.1136/jmg.32.5.401 [Abstract] [PDF] [Request Permissions]

A comparison of the Huntington's disease associated trinucleotide repeat between Chinese and white populations.
B W Soong and J T Wang
J Med Genet 1995; 32: 404-405. doi:10.1136/jmg.32.5.404 [PDF] [Request Permissions]

Rare variants of chromosome 9 with extra G positive band within the qh region are not alike.
R A Conte, S Gupta, J P Brennan, and R S Verma
J Med Genet 1995; 32: 405-406. doi:10.1136/jmg.32.5.405 [PDF] [Request Permissions]

Mild cystic fibrosis phenotype in patients with the 3272-26A > G mutation.
E Kanavakis, M Tzetis, T Antoniadi, J Trager-Synodinos, C Kattamis, S Doudounakis, and G Adam
J Med Genet 1995; 32: 406-407. doi:10.1136/jmg.32.5.406 [PDF] [Request Permissions]

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	Medical genetics: advances in brief: Congenital bilateral absence of vas deferens in the absence of cystic fibrosis Angela Barnicoat J Med Genet 1995; 32: 403. doi:10.1136/jmg.32.5.403 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4 John Barber J Med Genet 1995; 32: 403. doi:10.1136/jmg.32.5.403-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Bone marrow transplantation for autosomal recessive osteopetrosis Jill Clayton-Smith J Med Genet 1995; 32: 403. doi:10.1136/jmg.32.5.403-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: Maternal mild hyperphenylalaninaemia: an international survey of offspring outcome Angela Barnicoat J Med Genet 1995; 32: 403. doi:10.1136/jmg.32.5.403-c [PDF] [Request Permissions]

	Cystic Fibrosis: Current Topics Maurice Super J Med Genet 1995; 32: 408. doi:10.1136/jmg.32.5.408 [PDF] [Request Permissions]

	Molecular Genetic Medicine A O M Wilkie J Med Genet 1995; 32: 408. doi:10.1136/jmg.32.5.408-a [PDF] [Request Permissions]

	Editorial postscript: 10 years of change and evolution. P S Harper J Med Genet 1995; 32: 329. doi:10.1136/jmg.32.5.329 [PDF] [Request Permissions]

	Familial pancreatic adenocarcinoma: association with diabetes and early molecular diagnosis. J P Evans, W Burke, R Chen, R L Bennett, R A Schmidt, E P Dellinger, M Kimmey, D Crispin, T A Brentnall, and D R Byrd J Med Genet 1995; 32: 330-335. doi:10.1136/jmg.32.5.330 [Abstract] [PDF] [Request Permissions]

	Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village. S Winata, I N Arhya, S Moeljopawiro, J T Hinnant, Y Liang, T B Friedman, and J H Asher, Jr J Med Genet 1995; 32: 336-343. doi:10.1136/jmg.32.5.336 [Abstract] [PDF] [Request Permissions]

	Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study. U Drugge, M Holmberg, G Holmgren, B G Almay, and H Linderholm J Med Genet 1995; 32: 344-347. doi:10.1136/jmg.32.5.344 [Abstract] [PDF] [Request Permissions]

	Duchenne muscular dystrophy: negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness. H Jensen, M Warburg, O Sjö, and M Schwartz J Med Genet 1995; 32: 348-351. doi:10.1136/jmg.32.5.348 [Abstract] [PDF] [Request Permissions]

	Genetic linkage analysis in hereditary non-polyposis colon cancer syndrome. N J Froggatt, J Koch, R Davies, D G Evans, A Clamp, O W Quarrell, J Weissenbach, S V Hodgson, B A Ponder, and D E Barton J Med Genet 1995; 32: 352-357. doi:10.1136/jmg.32.5.352 [Abstract] [PDF] [Request Permissions]

	Cognitive performance in UK sample of presymptomatic people carrying the gene for Huntington's disease. L Blackmore, S A Simpson, and J R Crawford J Med Genet 1995; 32: 358-362. doi:10.1136/jmg.32.5.358 [Abstract] [PDF] [Request Permissions]

	Association between high serum total IgE levels and D11S97 on chromosome 11q13 in Japanese subjects. N Hizawa, E Yamaguchi, K Furuya, N Ohnuma, N Kodama, J Kojima, M Ohe, and Y Kawakami J Med Genet 1995; 32: 363-369. doi:10.1136/jmg.32.5.363 [Abstract] [PDF] [Request Permissions]

	Craniometaphyseal dysplasia (CMD), autosomal dominant form. P Beighton J Med Genet 1995; 32: 370-374. doi:10.1136/jmg.32.5.370 [PDF] [Request Permissions]

	Bilateral split hand/foot malformation and inv(7)(p22q21.3). J M Cobben, J B Verheij, W H Eisma, P H Robinson, R P Zwierstra, B Leegte, and S Castedo J Med Genet 1995; 32: 375-378. doi:10.1136/jmg.32.5.375 [Abstract] [PDF] [Request Permissions]

	Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation. L Theart, M J Kotze, E Langenhoven, O Loubser, A V Peeters, C J Lintott, and R S Scott J Med Genet 1995; 32: 379-382. doi:10.1136/jmg.32.5.379 [Abstract] [PDF] [Request Permissions]

	X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. A K Gedeon, M J Wilson, A C Colley, D O Sillence, and J C Mulley J Med Genet 1995; 32: 383-388. doi:10.1136/jmg.32.5.383 [Abstract] [PDF] [Request Permissions]

	Linkage analysis of a large pedigree with hereditary sideroblastic anaemia. J S Noble, G R Taylor, M S Losowsky, R Hall, G Turner, R F Mueller, and A D Stewart J Med Genet 1995; 32: 389-392. doi:10.1136/jmg.32.5.389 [Abstract] [PDF] [Request Permissions]

	Phenotypic variability in patients with generalised resistance to thyroid hormone. J Pohlenz, S Wirth, A Winterpacht, H Wemme, B Zabel, and W Schönberger J Med Genet 1995; 32: 393-395. doi:10.1136/jmg.32.5.393 [Abstract] [PDF] [Request Permissions]

	Oguchi disease: suggestion of linkage to markers on chromosome 2q. M A Maw, S John, S Jablonka, B Müller, G Kumaramanickavel, R Oehlmann, M J Denton, and A Gal J Med Genet 1995; 32: 396-398. doi:10.1136/jmg.32.5.396 [Abstract] [PDF] [Request Permissions]

	Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes. C Pêcheux, J F Mouret, A Dürr, Y Agid, J Feingold, A Brice, C Dodé, and J C Kaplan J Med Genet 1995; 32: 399-400. doi:10.1136/jmg.32.5.399 [Abstract] [PDF] [Request Permissions]

	A family study describing second cousins with cystic fibrosis and no common ancestor who is a carrier. V M Park, M E Smith, M T Knight, and M J Rock J Med Genet 1995; 32: 401-402. doi:10.1136/jmg.32.5.401 [Abstract] [PDF] [Request Permissions]

	A comparison of the Huntington's disease associated trinucleotide repeat between Chinese and white populations. B W Soong and J T Wang J Med Genet 1995; 32: 404-405. doi:10.1136/jmg.32.5.404 [PDF] [Request Permissions]

	Rare variants of chromosome 9 with extra G positive band within the qh region are not alike. R A Conte, S Gupta, J P Brennan, and R S Verma J Med Genet 1995; 32: 405-406. doi:10.1136/jmg.32.5.405 [PDF] [Request Permissions]

	Mild cystic fibrosis phenotype in patients with the 3272-26A > G mutation. E Kanavakis, M Tzetis, T Antoniadi, J Trager-Synodinos, C Kattamis, S Doudounakis, and G Adam J Med Genet 1995; 32: 406-407. doi:10.1136/jmg.32.5.406 [PDF] [Request Permissions]