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June 1996 (Volume 33, Number 6). [Index by author]

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Abstracts

Medical genetics: advances in brief: Canavan disease: from spongy degeneration to molecular analysis
Jill Clayton-Smith
J Med Genet 1996; 33: 524. doi:10.1136/jmg.33.6.524 [PDF] [Request Permissions]

Medical genetics: advances in brief: Prognostic implications of fetal echogenic bowel
Angela Barnicoat
J Med Genet 1996; 33: 524. doi:10.1136/jmg.33.6.524-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations
Frances Flinter
J Med Genet 1996; 33: 524. doi:10.1136/jmg.33.6.524-b [PDF] [Request Permissions]

Book Reviews

Transplantation Immunology
Philip A Dyer
J Med Genet 1996; 33: 526. doi:10.1136/jmg.33.6.526-a [PDF] [Request Permissions]

Handbook of Prenatal Diagnosis
Sarah Slaney
J Med Genet 1996; 33: 526-527. doi:10.1136/jmg.33.6.526-b [PDF] [Request Permissions]

Atlas of Whole Chromosome Paint Probes. Normal Patterns and Utility for Abnormal Cases
Tony Andrews
J Med Genet 1996; 33: 527. doi:10.1136/jmg.33.6.527 [PDF] [Request Permissions]

NEW SOFTWARE: Cyrillic 2.0 for Pedigree Drawing
R McMahon
J Med Genet 1996; 33: 527-528. doi:10.1136/jmg.33.6.527-a [PDF] [Request Permissions]

Research Article

Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2.
M Piantanida, E Buscarini, C Dellavecchia, A Minelli, A Rossi, L Buscarini, and C Danesino
J Med Genet 1996; 33: 441-443. doi:10.1136/jmg.33.6.441 [Abstract] [PDF] [Request Permissions]

Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers.
A Verloes, I K Temple, A F Hubert, P Hope, S Gould, C Debauche, G Verellen, J L Deville, L Koulischer, and E M Sokal
J Med Genet 1996; 33: 444-449. doi:10.1136/jmg.33.6.444 [Abstract] [PDF] [Request Permissions]

Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.
G A Wallis, B Rash, B Sykes, J Bonaventure, P Maroteaux, B Zabel, R Wynne-Davies, M E Grant, and R P Boot-Handford
J Med Genet 1996; 33: 450-457. doi:10.1136/jmg.33.6.450 [Abstract] [PDF] [Request Permissions]

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.
J L Keulemans, A J Reuser, M A Kroos, R Willemsen, M M Hermans, A M van den Ouweland, J G de Jong, R A Wevers, W O Renier, D Schindler, M J Coll, A Chabas, H Sakuraba, Y Suzuki, and O P van Diggelen
J Med Genet 1996; 33: 458-464. doi:10.1136/jmg.33.6.458 [Abstract] [PDF] [Request Permissions]

Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.
C Kwok, C Tyler-Smith, B B Mendonca, I Hughes, G D Berkovitz, P N Goodfellow, and J R Hawkins
J Med Genet 1996; 33: 465-468. doi:10.1136/jmg.33.6.465 [Abstract] [PDF] [Request Permissions]

Unusual molecular findings in autosomal recessive spinal muscular atrophy.
G Matthijs, E Schollen, E Legius, K Devriendt, N Goemans, H Kayserili, M Y Apäk, and J J Cassiman
J Med Genet 1996; 33: 469-474. doi:10.1136/jmg.33.6.469 [Abstract] [PDF] [Request Permissions]

Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure.
G Castaldo, E Rippa, G Sebastio, V Raia, P Ercolini, G de Ritis, D Salvatore, and F Salvatore
J Med Genet 1996; 33: 475-479. doi:10.1136/jmg.33.6.475 [Abstract] [PDF] [Request Permissions]

A cross sectional study of renal involvement in tuberous sclerosis.
J A Cook, K Oliver, R F Mueller, and J Sampson
J Med Genet 1996; 33: 480-484. doi:10.1136/jmg.33.6.480 [Abstract] [PDF] [Request Permissions]

Family history and perceived vulnerability to some common diseases: a study of young people and their parents.
M Ponder, J Lee, J Green, and M Richards
J Med Genet 1996; 33: 485-492. doi:10.1136/jmg.33.6.485 [Abstract] [PDF] [Request Permissions]

A Scottish family with Bazex-Dupré-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma.
A Kidd, L Carson, D W Gregory, D de Silva, J Holmes, J C Dean, and N Haites
J Med Genet 1996; 33: 493-497. doi:10.1136/jmg.33.6.493 [Abstract] [PDF] [Request Permissions]

Defects in the determination of left-right asymmetry.
M P Splitt, J Burn, and J Goodship
J Med Genet 1996; 33: 498-503. doi:10.1136/jmg.33.6.498 [PDF] [Request Permissions]

Familial autosomal dominant dopa responsive Parkinson's disease in three living generations showing extreme anticipation and childhood onset.
P J Morrison, R B Godwin-Austen, and J A Raeburn
J Med Genet 1996; 33: 504-506. doi:10.1136/jmg.33.6.504 [Abstract] [PDF] [Request Permissions]

Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.
J Ignatius, S Knuutila, S W Scherer, B Trask, and J Kere
J Med Genet 1996; 33: 507-510. doi:10.1136/jmg.33.6.507 [Abstract] [PDF] [Request Permissions]

Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity.
R S Ramesar, J Greenberg, R Martin, R Goliath, S Bardien, S Mundlos, and P Beighton
J Med Genet 1996; 33: 511-514. doi:10.1136/jmg.33.6.511 [Abstract] [PDF] [Request Permissions]

Clinical outcomes of adjacent 1 segregation in a familial translocation t(8;18)(p21.3;p11.23).
A E Cockwell, R S James, I E Moore, E Hatchwell, and J A Crolla
J Med Genet 1996; 33: 515-517. doi:10.1136/jmg.33.6.515 [Abstract] [PDF] [Request Permissions]

A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p.
E E Tarttelin, C Plant, J Weissenbach, A C Bird, S S Bhattacharya, and C F Inglehearn
J Med Genet 1996; 33: 518-520. doi:10.1136/jmg.33.6.518 [Abstract] [PDF] [Request Permissions]

High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.
L M Chuang, H P Wu, M H Jang, T R Wang, W C Sue, B J Lin, D W Cox, and T Y Tai
J Med Genet 1996; 33: 521-523. doi:10.1136/jmg.33.6.521 [Abstract] [PDF] [Request Permissions]

Association between serotonin type 2 receptor (HTR2) and bronchial asthma in humans.
H Q Mao, K Morimoto, T Shirakawa, J M Hopkin, T Hashimoto, J Furuyama, M Kawai, S Sasaki, T Enomoto, K Yoshikawa, and T Yoshikawa
J Med Genet 1996; 33: 525. doi:10.1136/jmg.33.6.525 [PDF] [Request Permissions]

Evidence of maternal segregation distortion in the sickle cell and beta thalassaemia traits.
I D Silva and A S Ramalho
J Med Genet 1996; 33: 525. doi:10.1136/jmg.33.6.525-a [PDF] [Request Permissions]

Second cousins with cystic fibrosis and no common ancestor who is a carrier.
L P Ten Kate
J Med Genet 1996; 33: 526. doi:10.1136/jmg.33.6.526 [PDF] [Request Permissions]

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	Medical genetics: advances in brief: Canavan disease: from spongy degeneration to molecular analysis Jill Clayton-Smith J Med Genet 1996; 33: 524. doi:10.1136/jmg.33.6.524 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Prognostic implications of fetal echogenic bowel Angela Barnicoat J Med Genet 1996; 33: 524. doi:10.1136/jmg.33.6.524-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations Frances Flinter J Med Genet 1996; 33: 524. doi:10.1136/jmg.33.6.524-b [PDF] [Request Permissions]

	Transplantation Immunology Philip A Dyer J Med Genet 1996; 33: 526. doi:10.1136/jmg.33.6.526-a [PDF] [Request Permissions]

	Handbook of Prenatal Diagnosis Sarah Slaney J Med Genet 1996; 33: 526-527. doi:10.1136/jmg.33.6.526-b [PDF] [Request Permissions]

	Atlas of Whole Chromosome Paint Probes. Normal Patterns and Utility for Abnormal Cases Tony Andrews J Med Genet 1996; 33: 527. doi:10.1136/jmg.33.6.527 [PDF] [Request Permissions]

	NEW SOFTWARE: Cyrillic 2.0 for Pedigree Drawing R McMahon J Med Genet 1996; 33: 527-528. doi:10.1136/jmg.33.6.527-a [PDF] [Request Permissions]

	Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2. M Piantanida, E Buscarini, C Dellavecchia, A Minelli, A Rossi, L Buscarini, and C Danesino J Med Genet 1996; 33: 441-443. doi:10.1136/jmg.33.6.441 [Abstract] [PDF] [Request Permissions]

	Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers. A Verloes, I K Temple, A F Hubert, P Hope, S Gould, C Debauche, G Verellen, J L Deville, L Koulischer, and E M Sokal J Med Genet 1996; 33: 444-449. doi:10.1136/jmg.33.6.444 [Abstract] [PDF] [Request Permissions]

	Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia. G A Wallis, B Rash, B Sykes, J Bonaventure, P Maroteaux, B Zabel, R Wynne-Davies, M E Grant, and R P Boot-Handford J Med Genet 1996; 33: 450-457. doi:10.1136/jmg.33.6.450 [Abstract] [PDF] [Request Permissions]

	Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. J L Keulemans, A J Reuser, M A Kroos, R Willemsen, M M Hermans, A M van den Ouweland, J G de Jong, R A Wevers, W O Renier, D Schindler, M J Coll, A Chabas, H Sakuraba, Y Suzuki, and O P van Diggelen J Med Genet 1996; 33: 458-464. doi:10.1136/jmg.33.6.458 [Abstract] [PDF] [Request Permissions]

	Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects. C Kwok, C Tyler-Smith, B B Mendonca, I Hughes, G D Berkovitz, P N Goodfellow, and J R Hawkins J Med Genet 1996; 33: 465-468. doi:10.1136/jmg.33.6.465 [Abstract] [PDF] [Request Permissions]

	Unusual molecular findings in autosomal recessive spinal muscular atrophy. G Matthijs, E Schollen, E Legius, K Devriendt, N Goemans, H Kayserili, M Y Apäk, and J J Cassiman J Med Genet 1996; 33: 469-474. doi:10.1136/jmg.33.6.469 [Abstract] [PDF] [Request Permissions]

	Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure. G Castaldo, E Rippa, G Sebastio, V Raia, P Ercolini, G de Ritis, D Salvatore, and F Salvatore J Med Genet 1996; 33: 475-479. doi:10.1136/jmg.33.6.475 [Abstract] [PDF] [Request Permissions]

	A cross sectional study of renal involvement in tuberous sclerosis. J A Cook, K Oliver, R F Mueller, and J Sampson J Med Genet 1996; 33: 480-484. doi:10.1136/jmg.33.6.480 [Abstract] [PDF] [Request Permissions]

	Family history and perceived vulnerability to some common diseases: a study of young people and their parents. M Ponder, J Lee, J Green, and M Richards J Med Genet 1996; 33: 485-492. doi:10.1136/jmg.33.6.485 [Abstract] [PDF] [Request Permissions]

	A Scottish family with Bazex-Dupré-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma. A Kidd, L Carson, D W Gregory, D de Silva, J Holmes, J C Dean, and N Haites J Med Genet 1996; 33: 493-497. doi:10.1136/jmg.33.6.493 [Abstract] [PDF] [Request Permissions]

	Defects in the determination of left-right asymmetry. M P Splitt, J Burn, and J Goodship J Med Genet 1996; 33: 498-503. doi:10.1136/jmg.33.6.498 [PDF] [Request Permissions]

	Familial autosomal dominant dopa responsive Parkinson's disease in three living generations showing extreme anticipation and childhood onset. P J Morrison, R B Godwin-Austen, and J A Raeburn J Med Genet 1996; 33: 504-506. doi:10.1136/jmg.33.6.504 [Abstract] [PDF] [Request Permissions]

	Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3. J Ignatius, S Knuutila, S W Scherer, B Trask, and J Kere J Med Genet 1996; 33: 507-510. doi:10.1136/jmg.33.6.507 [Abstract] [PDF] [Request Permissions]

	Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity. R S Ramesar, J Greenberg, R Martin, R Goliath, S Bardien, S Mundlos, and P Beighton J Med Genet 1996; 33: 511-514. doi:10.1136/jmg.33.6.511 [Abstract] [PDF] [Request Permissions]

	Clinical outcomes of adjacent 1 segregation in a familial translocation t(8;18)(p21.3;p11.23). A E Cockwell, R S James, I E Moore, E Hatchwell, and J A Crolla J Med Genet 1996; 33: 515-517. doi:10.1136/jmg.33.6.515 [Abstract] [PDF] [Request Permissions]

	A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p. E E Tarttelin, C Plant, J Weissenbach, A C Bird, S S Bhattacharya, and C F Inglehearn J Med Genet 1996; 33: 518-520. doi:10.1136/jmg.33.6.518 [Abstract] [PDF] [Request Permissions]

	High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease. L M Chuang, H P Wu, M H Jang, T R Wang, W C Sue, B J Lin, D W Cox, and T Y Tai J Med Genet 1996; 33: 521-523. doi:10.1136/jmg.33.6.521 [Abstract] [PDF] [Request Permissions]

	Association between serotonin type 2 receptor (HTR2) and bronchial asthma in humans. H Q Mao, K Morimoto, T Shirakawa, J M Hopkin, T Hashimoto, J Furuyama, M Kawai, S Sasaki, T Enomoto, K Yoshikawa, and T Yoshikawa J Med Genet 1996; 33: 525. doi:10.1136/jmg.33.6.525 [PDF] [Request Permissions]

	Evidence of maternal segregation distortion in the sickle cell and beta thalassaemia traits. I D Silva and A S Ramalho J Med Genet 1996; 33: 525. doi:10.1136/jmg.33.6.525-a [PDF] [Request Permissions]

	Second cousins with cystic fibrosis and no common ancestor who is a carrier. L P Ten Kate J Med Genet 1996; 33: 526. doi:10.1136/jmg.33.6.526 [PDF] [Request Permissions]