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August 1992 (Volume 29, Number 8). [Index by author]

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Abstracts

Medical genetics: advances in brief: Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study
D O Robinson
J Med Genet 1992; 29: 598. doi:10.1136/jmg.29.8.598 [PDF] [Request Permissions]

Medical genetics: advances in brief: Levels of naturally occuring DNA polymorphism correlate with recombination rates in D melanogaster
Andrew Wilkie
J Med Genet 1992; 29: 598. doi:10.1136/jmg.29.8.598-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy
Andrew Norman
J Med Genet 1992; 29: 598. doi:10.1136/jmg.29.8.598-b [PDF] [Request Permissions]

Medical genetics: advances in brief: Girls with fragile X syndrome: physical and neurocognitive status and outcome
David Fitzpatrick
J Med Genet 1992; 29: 598. doi:10.1136/jmg.29.8.598-c [PDF] [Request Permissions]

Medical genetics: advances in brief: Attitudes toward presymptomatic testing and prenatal diagnosis for adrenoleukodystrophy among affected families
T R P Cole
J Med Genet 1992; 29: 598. doi:10.1136/jmg.29.8.598-d [PDF] [Request Permissions]

Book Reviews

International Nomenclature of Diseases. Vol VI. Metabolic, Nutritional and Endocrine Disorders
S Bundey
J Med Genet 1992; 29: 599-600. doi:10.1136/jmg.29.8.599-b [PDF] [Request Permissions]

Molecular Mechanisms and their Clinical Application in Malignancies
D G R Evans
J Med Genet 1992; 29: 600. doi:10.1136/jmg.29.8.600 [PDF] [Request Permissions]

Molecular Genetic Approaches to Neuropsychiatric Diseases
M Owen
J Med Genet 1992; 29: 600. doi:10.1136/jmg.29.8.600-a [PDF] [Request Permissions]

Research Article

Genetic deafness.
W Reardon
J Med Genet 1992; 29: 521-526. doi:10.1136/jmg.29.8.521 [PDF] [Request Permissions]

Hereditary haemorrhagic telangiectasia: a clinical analysis.
M E Porteous, J Burn, and S J Proctor
J Med Genet 1992; 29: 527-530. doi:10.1136/jmg.29.8.527 [Abstract] [PDF] [Request Permissions]

Genetic transmission of colorectal cancer: exploratory data analysis from a population based registry.
M Ponz de Leon, C Scapoli, G Zanghieri, R Sassatelli, C Sacchetti, and I Barrai
J Med Genet 1992; 29: 531-538. doi:10.1136/jmg.29.8.531 [Abstract] [PDF] [Request Permissions]

Comparison of adult height between patients with XX and XY gonadal dysgenesis: support for a Y specific growth gene(s).
T Ogata and N Matsuo
J Med Genet 1992; 29: 539-541. doi:10.1136/jmg.29.8.539 [Abstract] [PDF] [Request Permissions]

Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies.
V Petrovic, S Nasioulas, C W Chow, L Voullaire, M Schmidt, and H Dahl
J Med Genet 1992; 29: 542-546. doi:10.1136/jmg.29.8.542 [Abstract] [PDF] [Request Permissions]

Molecular diagnosis of Turner's syndrome.
C Gicquel, S Cabrol, H Schneid, F Girard, and Y Le Bouc
J Med Genet 1992; 29: 547-551. doi:10.1136/jmg.29.8.547 [Abstract] [PDF] [Request Permissions]

Genetic mapping of X linked ocular albinism: linkage analysis in British families.
S J Charles, A T Moore, and J R Yates
J Med Genet 1992; 29: 552-554. doi:10.1136/jmg.29.8.552 [Abstract] [PDF] [Request Permissions]

Racial distribution of Duchenne muscular dystrophy in the West Midlands region of Britain.
A Roddie and S Bundey
J Med Genet 1992; 29: 555-557. doi:10.1136/jmg.29.8.555 [Abstract] [PDF] [Request Permissions]

Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.
P Gasparini, G Borgo, G Mastella, A Bonizzato, M Dognini, and P F Pignatti
J Med Genet 1992; 29: 558-562. doi:10.1136/jmg.29.8.558 [Abstract] [PDF] [Request Permissions]

Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.
E C Landels, P M Green, I H Ellis, A H Fensom, and M Bobrow
J Med Genet 1992; 29: 563-567. doi:10.1136/jmg.29.8.563 [Abstract] [PDF] [Request Permissions]

Linkage of epidermolysis bullosa simplex to keratin gene loci.
K E McKenna, A E Hughes, E A Bingham, and N C Nevin
J Med Genet 1992; 29: 568-570. doi:10.1136/jmg.29.8.568 [Abstract] [PDF] [Request Permissions]

The use of DNA from paraffin wax preserved tissue for predictive diagnosis in familial adenomatous polyposis.
D G Morton, F Macdonald, M B Cachon-Gonzales, P M Rindl, J P Neoptolemos, M R Keighley, J D Delhanty, C M McKeown, M Kilpatrick, and M A Hultén
J Med Genet 1992; 29: 571-573. doi:10.1136/jmg.29.8.571 [PDF] [Request Permissions]

Rapid detection of the highly polymorphic beta globin framework by denaturing gradient gel electrophoresis.
M Losekoot, H van Heeren, J J Schipper, P C Giordano, L F Bernini, and R Fodde
J Med Genet 1992; 29: 574-577. doi:10.1136/jmg.29.8.574 [PDF] [Request Permissions]

Investigation of a female manifesting Becker muscular dystrophy.
I A Glass, L V Nicholson, E Watkiss, M A Johnson, R G Roberts, S Abbs, S Brittain-Jones, and H G Boddie
J Med Genet 1992; 29: 578-582. doi:10.1136/jmg.29.8.578 [Abstract] [PDF] [Request Permissions]

Congenital hydrocephalus secondary to Walker-Warburg syndrome identified on the Manitoba Neonatal Screening Programme for Duchenne muscular dystrophy.
C R Greenberg, H K Jacobs, T E Nylen, M Gibb, B N Chodirker, M Moffatt, A Lacson, W Halliday, F Bernier, and A el-Husseini
J Med Genet 1992; 29: 583-585. doi:10.1136/jmg.29.8.583 [Abstract] [PDF] [Request Permissions]

Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism.
M M Lai, P N Scriven, C Ball, and A C Berry
J Med Genet 1992; 29: 586-588. doi:10.1136/jmg.29.8.586 [Abstract] [PDF] [Request Permissions]

Upper limb defect associated with developmental delay, unilateral poorly developed antihelix, hearing deficit, and bilateral choroid coloboma: a new syndrome.
J R Ward, C Saad de Owens, and I A Sierra
J Med Genet 1992; 29: 589-591. doi:10.1136/jmg.29.8.589 [Abstract] [PDF] [Request Permissions]

Progressive vitiligo, mental retardation, facial dysmorphism, and urethral duplication without chromosomal breakage or immunodeficiency.
P Labrune, R Assathiany, D Penso, and M Odièvre
J Med Genet 1992; 29: 592-594. doi:10.1136/jmg.29.8.592 [Abstract] [PDF] [Request Permissions]

Parental origin of extra chromosomes in persons with X chromosome tetrasomy.
D David, R A Marques, M H Carreiro, I Moreira, and M G Boavida
J Med Genet 1992; 29: 595-596. doi:10.1136/jmg.29.8.595 [PDF] [Request Permissions]

Mild pulmonary disease in a cystic fibrosis child homozygous for R553X.
J Cheadle, L al-Jader, M Goodchild, and A L Meredith
J Med Genet 1992; 29: 597. doi:10.1136/jmg.29.8.597 [PDF] [Request Permissions]

A clinical and genetic database for management of familial adenomatous polyposis.
I Fenton and J Sampson
J Med Genet 1992; 29: 599. doi:10.1136/jmg.29.8.599 [PDF] [Request Permissions]

High proportion of twins in carriers of fragile X syndrome.
E F Tizzano and M Baiget
J Med Genet 1992; 29: 599. doi:10.1136/jmg.29.8.599-a [PDF] [Request Permissions]

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	Medical genetics: advances in brief: Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study D O Robinson J Med Genet 1992; 29: 598. doi:10.1136/jmg.29.8.598 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Levels of naturally occuring DNA polymorphism correlate with recombination rates in D melanogaster Andrew Wilkie J Med Genet 1992; 29: 598. doi:10.1136/jmg.29.8.598-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy Andrew Norman J Med Genet 1992; 29: 598. doi:10.1136/jmg.29.8.598-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: Girls with fragile X syndrome: physical and neurocognitive status and outcome David Fitzpatrick J Med Genet 1992; 29: 598. doi:10.1136/jmg.29.8.598-c [PDF] [Request Permissions]

	Medical genetics: advances in brief: Attitudes toward presymptomatic testing and prenatal diagnosis for adrenoleukodystrophy among affected families T R P Cole J Med Genet 1992; 29: 598. doi:10.1136/jmg.29.8.598-d [PDF] [Request Permissions]

	International Nomenclature of Diseases. Vol VI. Metabolic, Nutritional and Endocrine Disorders S Bundey J Med Genet 1992; 29: 599-600. doi:10.1136/jmg.29.8.599-b [PDF] [Request Permissions]

	Molecular Mechanisms and their Clinical Application in Malignancies D G R Evans J Med Genet 1992; 29: 600. doi:10.1136/jmg.29.8.600 [PDF] [Request Permissions]

	Molecular Genetic Approaches to Neuropsychiatric Diseases M Owen J Med Genet 1992; 29: 600. doi:10.1136/jmg.29.8.600-a [PDF] [Request Permissions]

	Genetic deafness. W Reardon J Med Genet 1992; 29: 521-526. doi:10.1136/jmg.29.8.521 [PDF] [Request Permissions]

	Hereditary haemorrhagic telangiectasia: a clinical analysis. M E Porteous, J Burn, and S J Proctor J Med Genet 1992; 29: 527-530. doi:10.1136/jmg.29.8.527 [Abstract] [PDF] [Request Permissions]

	Genetic transmission of colorectal cancer: exploratory data analysis from a population based registry. M Ponz de Leon, C Scapoli, G Zanghieri, R Sassatelli, C Sacchetti, and I Barrai J Med Genet 1992; 29: 531-538. doi:10.1136/jmg.29.8.531 [Abstract] [PDF] [Request Permissions]

	Comparison of adult height between patients with XX and XY gonadal dysgenesis: support for a Y specific growth gene(s). T Ogata and N Matsuo J Med Genet 1992; 29: 539-541. doi:10.1136/jmg.29.8.539 [Abstract] [PDF] [Request Permissions]

	Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies. V Petrovic, S Nasioulas, C W Chow, L Voullaire, M Schmidt, and H Dahl J Med Genet 1992; 29: 542-546. doi:10.1136/jmg.29.8.542 [Abstract] [PDF] [Request Permissions]

	Molecular diagnosis of Turner's syndrome. C Gicquel, S Cabrol, H Schneid, F Girard, and Y Le Bouc J Med Genet 1992; 29: 547-551. doi:10.1136/jmg.29.8.547 [Abstract] [PDF] [Request Permissions]

	Genetic mapping of X linked ocular albinism: linkage analysis in British families. S J Charles, A T Moore, and J R Yates J Med Genet 1992; 29: 552-554. doi:10.1136/jmg.29.8.552 [Abstract] [PDF] [Request Permissions]

	Racial distribution of Duchenne muscular dystrophy in the West Midlands region of Britain. A Roddie and S Bundey J Med Genet 1992; 29: 555-557. doi:10.1136/jmg.29.8.555 [Abstract] [PDF] [Request Permissions]

	Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease. P Gasparini, G Borgo, G Mastella, A Bonizzato, M Dognini, and P F Pignatti J Med Genet 1992; 29: 558-562. doi:10.1136/jmg.29.8.558 [Abstract] [PDF] [Request Permissions]

	Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles. E C Landels, P M Green, I H Ellis, A H Fensom, and M Bobrow J Med Genet 1992; 29: 563-567. doi:10.1136/jmg.29.8.563 [Abstract] [PDF] [Request Permissions]

	Linkage of epidermolysis bullosa simplex to keratin gene loci. K E McKenna, A E Hughes, E A Bingham, and N C Nevin J Med Genet 1992; 29: 568-570. doi:10.1136/jmg.29.8.568 [Abstract] [PDF] [Request Permissions]

	The use of DNA from paraffin wax preserved tissue for predictive diagnosis in familial adenomatous polyposis. D G Morton, F Macdonald, M B Cachon-Gonzales, P M Rindl, J P Neoptolemos, M R Keighley, J D Delhanty, C M McKeown, M Kilpatrick, and M A Hultén J Med Genet 1992; 29: 571-573. doi:10.1136/jmg.29.8.571 [PDF] [Request Permissions]

	Rapid detection of the highly polymorphic beta globin framework by denaturing gradient gel electrophoresis. M Losekoot, H van Heeren, J J Schipper, P C Giordano, L F Bernini, and R Fodde J Med Genet 1992; 29: 574-577. doi:10.1136/jmg.29.8.574 [PDF] [Request Permissions]

	Investigation of a female manifesting Becker muscular dystrophy. I A Glass, L V Nicholson, E Watkiss, M A Johnson, R G Roberts, S Abbs, S Brittain-Jones, and H G Boddie J Med Genet 1992; 29: 578-582. doi:10.1136/jmg.29.8.578 [Abstract] [PDF] [Request Permissions]

	Congenital hydrocephalus secondary to Walker-Warburg syndrome identified on the Manitoba Neonatal Screening Programme for Duchenne muscular dystrophy. C R Greenberg, H K Jacobs, T E Nylen, M Gibb, B N Chodirker, M Moffatt, A Lacson, W Halliday, F Bernier, and A el-Husseini J Med Genet 1992; 29: 583-585. doi:10.1136/jmg.29.8.583 [Abstract] [PDF] [Request Permissions]

	Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism. M M Lai, P N Scriven, C Ball, and A C Berry J Med Genet 1992; 29: 586-588. doi:10.1136/jmg.29.8.586 [Abstract] [PDF] [Request Permissions]

	Upper limb defect associated with developmental delay, unilateral poorly developed antihelix, hearing deficit, and bilateral choroid coloboma: a new syndrome. J R Ward, C Saad de Owens, and I A Sierra J Med Genet 1992; 29: 589-591. doi:10.1136/jmg.29.8.589 [Abstract] [PDF] [Request Permissions]

	Progressive vitiligo, mental retardation, facial dysmorphism, and urethral duplication without chromosomal breakage or immunodeficiency. P Labrune, R Assathiany, D Penso, and M Odièvre J Med Genet 1992; 29: 592-594. doi:10.1136/jmg.29.8.592 [Abstract] [PDF] [Request Permissions]

	Parental origin of extra chromosomes in persons with X chromosome tetrasomy. D David, R A Marques, M H Carreiro, I Moreira, and M G Boavida J Med Genet 1992; 29: 595-596. doi:10.1136/jmg.29.8.595 [PDF] [Request Permissions]

	Mild pulmonary disease in a cystic fibrosis child homozygous for R553X. J Cheadle, L al-Jader, M Goodchild, and A L Meredith J Med Genet 1992; 29: 597. doi:10.1136/jmg.29.8.597 [PDF] [Request Permissions]

	A clinical and genetic database for management of familial adenomatous polyposis. I Fenton and J Sampson J Med Genet 1992; 29: 599. doi:10.1136/jmg.29.8.599 [PDF] [Request Permissions]

	High proportion of twins in carriers of fragile X syndrome. E F Tizzano and M Baiget J Med Genet 1992; 29: 599. doi:10.1136/jmg.29.8.599-a [PDF] [Request Permissions]