J Med Genet -- Table of Contents (31 [4])

Subscribe here
Activate your subscription

Home > Volume 31, Number 4

Only Abstracts and PDFs available for this issue

Other Issues:
April 1994 (Volume 31, Number 4). [Index by author]

		Abstracts Book Reviews Conference Report Research Article

Find articles in this issue containing these words: [Search ALL Issues]

Table of Contents (PDF) | Advertising (PDF) | Cover (PDF) | Administration (PDF)

To see an article, click its [Full Text] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstracts' button. To see one abstract at a time, click its [Abstract] link.

Abstracts

Medical genetics: advances in brief: Application of carrier testing to genetic counselling for X-linked agammaglobulinemla
Frances Flinter
J Med Genet 1994; 31: 348. doi:10.1136/jmg.31.4.348 [PDF] [Request Permissions]

Medical genetics: advances in brief: Autosomal dominant transmission of the Pallister-Hall syndrome
Jill Clayton-Smith
J Med Genet 1994; 31: 348. doi:10.1136/jmg.31.4.348-a [PDF] [Request Permissions]

Medical genetics: advances in brief
John C K Barber
J Med Genet 1994; 31: 348. doi:10.1136/jmg.31.4.348-b [PDF] [Request Permissions]

Medical genetics: advances in brief: Factor VIII gene rearangements in patients with severe haemophilla
W Reardon
J Med Genet 1994; 31: 348. doi:10.1136/jmg.31.4.348-c [PDF] [Request Permissions]

Medical genetics: advances in brief: A healthy male with compound and double heterozygosities for ${Delta}$ F508, F508C and M470V in exon 10 of the cystic fibrosis gene
Frances Flinter
J Med Genet 1994; 31: 348. doi:10.1136/jmg.31.4.348-d [PDF] [Request Permissions]

Book Reviews

The Chromosome
Andrew Wilkie
J Med Genet 1994; 31: 350. doi:10.1136/jmg.31.4.350 [PDF] [Request Permissions]

Genome Maps and Neurological Disorders
John C Macmillan
J Med Genet 1994; 31: 350. doi:10.1136/jmg.31.4.350-a [PDF] [Request Permissions]

Conference Report

Workshop on inherited disorders and their genes in different European populations, Obernai, Strasbourg, France, 26-30 November 1993
Peter S Harper
J Med Genet 1994; 31: 346-347. doi:10.1136/jmg.31.4.346 [PDF] [Request Permissions]

Research Article

The morbid anatomy of the human genome: chromosomal location of mutations causing disease (update 1 December 1993).
V A McKusick and J S Amberger
J Med Genet 1994; 31: 265-279. doi:10.1136/jmg.31.4.265 [PDF] [Request Permissions]

Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.
R J Oostra, P A Bolhuis, F A Wijburg, G Zorn-Ende, and E M Bleeker-Wagemakers
J Med Genet 1994; 31: 280-286. doi:10.1136/jmg.31.4.280 [Abstract] [PDF] [Request Permissions]

Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia.
J Zonana, M Jones, A Clarke, J Gault, B Muller, and N S Thomas
J Med Genet 1994; 31: 287-292. doi:10.1136/jmg.31.4.287 [Abstract] [PDF] [Request Permissions]

A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected.
T Coelho, A Sousa, E Lourenço, and J Ramalheira
J Med Genet 1994; 31: 293-299. doi:10.1136/jmg.31.4.293 [Abstract] [PDF] [Request Permissions]

Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification.
P Turnpenny, C Clark, and K Kelly
J Med Genet 1994; 31: 300-305. doi:10.1136/jmg.31.4.300 [Abstract] [PDF] [Request Permissions]

The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.
A J Carr, A A Chiodo, J M Hilton, C W Chow, A Hockey, and W G Cole
J Med Genet 1994; 31: 306-311. doi:10.1136/jmg.31.4.306 [Abstract] [PDF] [Request Permissions]

Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.
J C Barber, K H Ellis, L V Bowles, J D Delhanty, R F Ede, B M Male, and D M Eccles
J Med Genet 1994; 31: 312-316. doi:10.1136/jmg.31.4.312 [Abstract] [PDF] [Request Permissions]

Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.
S J Steinberg, C P Ward, and A H Fensom
J Med Genet 1994; 31: 317-320. doi:10.1136/jmg.31.4.317 [Abstract] [PDF] [Request Permissions]

Dermal eccrine cylindromatosis.
I D van Balkom and R C Hennekam
J Med Genet 1994; 31: 321-324. doi:10.1136/jmg.31.4.321 [PDF] [Request Permissions]

Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?
M S Fewtrell, P K Tam, A H Thomson, M Fitchett, J Currie, S M Huson, and L M Mulligan
J Med Genet 1994; 31: 325-327. doi:10.1136/jmg.31.4.325 [Abstract] [PDF] [Request Permissions]

Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD).
D Pilz, O W Quarrell, and E W Jones
J Med Genet 1994; 31: 328-330. doi:10.1136/jmg.31.4.328 [Abstract] [PDF] [Request Permissions]

Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome?
T Yorifuji, M Matsumura, T Okuno, K Shimizu, T Sonomura, J Muroi, C Kuno, Y Takahashi, and T Okuno
J Med Genet 1994; 31: 331-333. doi:10.1136/jmg.31.4.331 [Abstract] [PDF] [Request Permissions]

Isolation and characterisation of a panel of cosmids which allows unequivocal identification of chromosome deletions involving the RB1 gene using fluorescence in situ hybridisation.
J K Cowell, R Jaju, and H Kempski
J Med Genet 1994; 31: 334-337. doi:10.1136/jmg.31.4.334 [Abstract] [PDF] [Request Permissions]

A new missense mutation of fibrillin in a patient with Marfan syndrome.
D R Hewett, J R Lynch, A Child, and B C Sykes
J Med Genet 1994; 31: 338-339. doi:10.1136/jmg.31.4.338 [Abstract] [PDF] [Request Permissions]

Genetic heterogeneity in Rieger eye malformation.
E Legius, C E de Die-Smulders, F Verbraak, H Habex, R Decorte, P Marynen, J P Fryns, and J J Cassiman
J Med Genet 1994; 31: 340-341. doi:10.1136/jmg.31.4.340 [Abstract] [PDF] [Request Permissions]

Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa.
F el Kerch, A Sefiani, K Azibi, N Boutaleb, M Yahyaoui, A Bentahila, M C Vinet, F Leturcq, L Bachner, and J Beckmann
J Med Genet 1994; 31: 342-343. doi:10.1136/jmg.31.4.342 [Abstract] [PDF] [Request Permissions]

Deletion mapping of the DXS986, DXS995, and DXS1002 loci defines their order within Xq21.
P A Clark, T Lester, L Villard, M Fontes, and C Kinnon
J Med Genet 1994; 31: 344-345. doi:10.1136/jmg.31.4.344 [Abstract] [PDF] [Request Permissions]

Testis determining gene(s) on the X chromosome short arm: chromosomal localisation and possible role in testis determination.
T Ogata and N Matsuo
J Med Genet 1994; 31: 349. doi:10.1136/jmg.31.4.349 [PDF] [Request Permissions]

Register for free content

The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.

Genetics jobs

Show me all >>

	Medical genetics: advances in brief: Application of carrier testing to genetic counselling for X-linked agammaglobulinemla Frances Flinter J Med Genet 1994; 31: 348. doi:10.1136/jmg.31.4.348 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Autosomal dominant transmission of the Pallister-Hall syndrome Jill Clayton-Smith J Med Genet 1994; 31: 348. doi:10.1136/jmg.31.4.348-a [PDF] [Request Permissions]

	Medical genetics: advances in brief John C K Barber J Med Genet 1994; 31: 348. doi:10.1136/jmg.31.4.348-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: Factor VIII gene rearangements in patients with severe haemophilla W Reardon J Med Genet 1994; 31: 348. doi:10.1136/jmg.31.4.348-c [PDF] [Request Permissions]

	Medical genetics: advances in brief: A healthy male with compound and double heterozygosities for ${Delta}$ F508, F508C and M470V in exon 10 of the cystic fibrosis gene Frances Flinter J Med Genet 1994; 31: 348. doi:10.1136/jmg.31.4.348-d [PDF] [Request Permissions]

	The Chromosome Andrew Wilkie J Med Genet 1994; 31: 350. doi:10.1136/jmg.31.4.350 [PDF] [Request Permissions]

	Genome Maps and Neurological Disorders John C Macmillan J Med Genet 1994; 31: 350. doi:10.1136/jmg.31.4.350-a [PDF] [Request Permissions]

	Workshop on inherited disorders and their genes in different European populations, Obernai, Strasbourg, France, 26-30 November 1993 Peter S Harper J Med Genet 1994; 31: 346-347. doi:10.1136/jmg.31.4.346 [PDF] [Request Permissions]

	The morbid anatomy of the human genome: chromosomal location of mutations causing disease (update 1 December 1993). V A McKusick and J S Amberger J Med Genet 1994; 31: 265-279. doi:10.1136/jmg.31.4.265 [PDF] [Request Permissions]

	Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome. R J Oostra, P A Bolhuis, F A Wijburg, G Zorn-Ende, and E M Bleeker-Wagemakers J Med Genet 1994; 31: 280-286. doi:10.1136/jmg.31.4.280 [Abstract] [PDF] [Request Permissions]

	Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia. J Zonana, M Jones, A Clarke, J Gault, B Muller, and N S Thomas J Med Genet 1994; 31: 287-292. doi:10.1136/jmg.31.4.287 [Abstract] [PDF] [Request Permissions]

	A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected. T Coelho, A Sousa, E Lourenço, and J Ramalheira J Med Genet 1994; 31: 293-299. doi:10.1136/jmg.31.4.293 [Abstract] [PDF] [Request Permissions]

	Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification. P Turnpenny, C Clark, and K Kelly J Med Genet 1994; 31: 300-305. doi:10.1136/jmg.31.4.300 [Abstract] [PDF] [Request Permissions]

	The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene. A J Carr, A A Chiodo, J M Hilton, C W Chow, A Hockey, and W G Cole J Med Genet 1994; 31: 306-311. doi:10.1136/jmg.31.4.306 [Abstract] [PDF] [Request Permissions]

	Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion. J C Barber, K H Ellis, L V Bowles, J D Delhanty, R F Ede, B M Male, and D M Eccles J Med Genet 1994; 31: 312-316. doi:10.1136/jmg.31.4.312 [Abstract] [PDF] [Request Permissions]

	Complementation studies in Niemann-Pick disease type C indicate the existence of a second group. S J Steinberg, C P Ward, and A H Fensom J Med Genet 1994; 31: 317-320. doi:10.1136/jmg.31.4.317 [Abstract] [PDF] [Request Permissions]

	Dermal eccrine cylindromatosis. I D van Balkom and R C Hennekam J Med Genet 1994; 31: 321-324. doi:10.1136/jmg.31.4.321 [PDF] [Request Permissions]

	Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies? M S Fewtrell, P K Tam, A H Thomson, M Fitchett, J Currie, S M Huson, and L M Mulligan J Med Genet 1994; 31: 325-327. doi:10.1136/jmg.31.4.325 [Abstract] [PDF] [Request Permissions]

	Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD). D Pilz, O W Quarrell, and E W Jones J Med Genet 1994; 31: 328-330. doi:10.1136/jmg.31.4.328 [Abstract] [PDF] [Request Permissions]

	Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome? T Yorifuji, M Matsumura, T Okuno, K Shimizu, T Sonomura, J Muroi, C Kuno, Y Takahashi, and T Okuno J Med Genet 1994; 31: 331-333. doi:10.1136/jmg.31.4.331 [Abstract] [PDF] [Request Permissions]

	Isolation and characterisation of a panel of cosmids which allows unequivocal identification of chromosome deletions involving the RB1 gene using fluorescence in situ hybridisation. J K Cowell, R Jaju, and H Kempski J Med Genet 1994; 31: 334-337. doi:10.1136/jmg.31.4.334 [Abstract] [PDF] [Request Permissions]

	A new missense mutation of fibrillin in a patient with Marfan syndrome. D R Hewett, J R Lynch, A Child, and B C Sykes J Med Genet 1994; 31: 338-339. doi:10.1136/jmg.31.4.338 [Abstract] [PDF] [Request Permissions]

	Genetic heterogeneity in Rieger eye malformation. E Legius, C E de Die-Smulders, F Verbraak, H Habex, R Decorte, P Marynen, J P Fryns, and J J Cassiman J Med Genet 1994; 31: 340-341. doi:10.1136/jmg.31.4.340 [Abstract] [PDF] [Request Permissions]

	Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa. F el Kerch, A Sefiani, K Azibi, N Boutaleb, M Yahyaoui, A Bentahila, M C Vinet, F Leturcq, L Bachner, and J Beckmann J Med Genet 1994; 31: 342-343. doi:10.1136/jmg.31.4.342 [Abstract] [PDF] [Request Permissions]

	Deletion mapping of the DXS986, DXS995, and DXS1002 loci defines their order within Xq21. P A Clark, T Lester, L Villard, M Fontes, and C Kinnon J Med Genet 1994; 31: 344-345. doi:10.1136/jmg.31.4.344 [Abstract] [PDF] [Request Permissions]

	Testis determining gene(s) on the X chromosome short arm: chromosomal localisation and possible role in testis determination. T Ogata and N Matsuo J Med Genet 1994; 31: 349. doi:10.1136/jmg.31.4.349 [PDF] [Request Permissions]