J Med Genet -- Table of Contents (30 [6])

Subscribe here
Activate your subscription

Home > Volume 30, Number 6

Only Abstracts and PDFs available for this issue

Other Issues:
June 1993 (Volume 30, Number 6). [Index by author]

		Miscellaneous Abstracts Book Reviews Letters to the Editor Research Article

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

Table of Contents (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.

Miscellaneous

Corrections
J Med Genet 1993; 30: 528. doi:10.1136/jmg.30.6.528 [PDF] [Request Permissions]

Abstracts

Medical genetics: advances in brief: Expression of Xist during mouse development suggests a role in the initiation of X chromosome inactivation
N S Thakker
J Med Genet 1993; 30: 532. doi:10.1136/jmg.30.6.532 [PDF] [Request Permissions]

Medical genetics: advances in brief
Andrew Norman
J Med Genet 1993; 30: 532. doi:10.1136/jmg.30.6.532-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Mutations in the Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
Andrew Wilkie
J Med Genet 1993; 30: 532. doi:10.1136/jmg.30.6.532-b [PDF] [Request Permissions]

Medical genetics: advances in brief: Intellectual development at age of 12 years of children with congenital hypothyroidism diagnosed by neonatal screening
David Fitzpatrick
J Med Genet 1993; 30: 532. doi:10.1136/jmg.30.6.532-c [PDF] [Request Permissions]

Medical genetics: advances in brief: Congenital bilateral perisylvian syndrome: study of 31 patients
W Reardon
J Med Genet 1993; 30: 532. doi:10.1136/jmg.30.6.532-d [PDF] [Request Permissions]

Book Reviews

Our Genetic Future: The Science and Ethics of Genetic Technology
Angus Clarke
J Med Genet 1993; 30: 536. doi:10.1136/jmg.30.6.536 [PDF] [Request Permissions]

Practical Molecular Virology
Charles R M Bangham
J Med Genet 1993; 30: 536. doi:10.1136/jmg.30.6.536-a [PDF] [Request Permissions]

Letters to the Editor

Reply
Graeme K Suthers, Kay E Davies, and Susan M Huson
J Med Genet 1993; 30: 533. doi:10.1136/jmg.30.6.533-a [PDF] [Request Permissions]

Research Article

Low segregation ratios in autosomal recessive disorders.
S Bundey and I D Young
J Med Genet 1993; 30: 449-451. doi:10.1136/jmg.30.6.449 [PDF] [Request Permissions]

Isolation of the defective gene in X linked agammaglobulinaemia.
D Vetrie
J Med Genet 1993; 30: 452-453. doi:10.1136/jmg.30.6.452 [PDF] [Request Permissions]

Population studies of the fragile X: a molecular approach.
P A Jacobs, H Bullman, J Macpherson, S Youings, V Rooney, A Watson, and N R Dennis
J Med Genet 1993; 30: 454-459. doi:10.1136/jmg.30.6.454 [Abstract] [PDF] [Request Permissions]

Complications of the naevoid basal cell carcinoma syndrome: results of a population based study.
D G Evans, E J Ladusans, S Rimmer, L D Burnell, N Thakker, and P A Farndon
J Med Genet 1993; 30: 460-464. doi:10.1136/jmg.30.6.460 [Abstract] [PDF] [Request Permissions]

Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.
I Dianzani, D W Howells, A Ponzone, J A Saleeba, P M Smooker, and R G Cotton
J Med Genet 1993; 30: 465-469. doi:10.1136/jmg.30.6.465 [Abstract] [PDF] [Request Permissions]

A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents.
L I al-Gazali, M Khalil, and K Devadas
J Med Genet 1993; 30: 470-475. doi:10.1136/jmg.30.6.470 [Abstract] [PDF] [Request Permissions]

RFLP analysis for APP 717 mutations associated with Alzheimer's disease.
S R Zeldenrust, J Murrell, M Farlow, B Ghetti, A D Roses, and M D Benson
J Med Genet 1993; 30: 476-478. doi:10.1136/jmg.30.6.476 [Abstract] [PDF] [Request Permissions]

Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles.
E C Landels, P M Green, I H Ellis, A H Fensom, M M Kaback, J Lim-Steele, K Zeiger, N Levy, and M Bobrow
J Med Genet 1993; 30: 479-481. doi:10.1136/jmg.30.6.479 [Abstract] [PDF] [Request Permissions]

Three patients with ring (X) chromosomes and a severe phenotype.
N R Dennis, A L Collins, J A Crolla, A E Cockwell, A M Fisher, and P A Jacobs
J Med Genet 1993; 30: 482-486. doi:10.1136/jmg.30.6.482 [Abstract] [PDF] [Request Permissions]

Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26.
M A Pericak-Vance, K J Nunes, E Whisenant, D B Loeb, K W Small, J M Stajich, J B Rimmler, L H Yamaoka, D I Smith, and H A Drabkin
J Med Genet 1993; 30: 487-491. doi:10.1136/jmg.30.6.487 [Abstract] [PDF] [Request Permissions]

Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.
G A Wallis, B Sykes, P H Byers, C G Mathew, D Viljoen, and P Beighton
J Med Genet 1993; 30: 492-496. doi:10.1136/jmg.30.6.492 [Abstract] [PDF] [Request Permissions]

Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia.
R Coleman, S A Genet, J I Harper, and A O Wilkie
J Med Genet 1993; 30: 497-500. doi:10.1136/jmg.30.6.497 [Abstract] [PDF] [Request Permissions]

Frequency of delta F508 in a Mexican sample of cystic fibrosis patients.
L Orozco, M Salcedo, J L Lezana, M Chávez, H Valdez, M Moreno, and A Carnevale
J Med Genet 1993; 30: 501-502. doi:10.1136/jmg.30.6.501 [Abstract] [PDF] [Request Permissions]

A large family with patent ductus arteriosus and unusual face.
H R Davidson
J Med Genet 1993; 30: 503-505. doi:10.1136/jmg.30.6.503 [Abstract] [PDF] [Request Permissions]

Edward Meryon (1809-1880) and muscular dystrophy.
A E Emery and M L Emery
J Med Genet 1993; 30: 506-511. doi:10.1136/jmg.30.6.506 [Abstract] [PDF] [Request Permissions]

A new restriction fragment length polymorphism at the DXS101 locus allows carrier detection in a family with X linked agammaglobulinaemia.
A Sweatman, R Lovering, H Middleton-Price, A Jones, G Morgan, R Levinsky, and C Kinnon
J Med Genet 1993; 30: 512-514. doi:10.1136/jmg.30.6.512 [Abstract] [PDF] [Request Permissions]

Cerebellar ataxia and ectodermal dysplasia in brothers.
M Baraitser, W Reardon, A McShane, and J Wilson
J Med Genet 1993; 30: 515-517. doi:10.1136/jmg.30.6.515 [Abstract] [PDF] [Request Permissions]

Deletion 9p and sex reversal.
C P Bennett, Z Docherty, S A Robb, P Ramani, J R Hawkins, and D Grant
J Med Genet 1993; 30: 518-520. doi:10.1136/jmg.30.6.518 [Abstract] [PDF] [Request Permissions]

Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter.
N Morichon-Delvallez, A L Delezoide, and M Vekemans
J Med Genet 1993; 30: 521-524. doi:10.1136/jmg.30.6.521 [Abstract] [PDF] [Request Permissions]

Severe intrauterine growth retardation, blepharophimosis, and cylindrical nose with midline groove: a new syndrome?
C E de Die-Smulders, R P Droog, M van Dijk, and J P Fryns
J Med Genet 1993; 30: 525. doi:10.1136/jmg.30.6.525 [Abstract] [PDF] [Request Permissions]

Congenital nystagmus cosegregating with a balanced 7;15 translocation.
M A Patton, S Jeffery, N Lee, and C Hogg
J Med Genet 1993; 30: 526-528. doi:10.1136/jmg.30.6.526 [Abstract] [PDF] [Request Permissions]

Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.
J Clayton-Smith, T Webb, X J Cheng, M E Pembrey, and S Malcolm
J Med Genet 1993; 30: 529-531. doi:10.1136/jmg.30.6.529 [Abstract] [PDF] [Request Permissions]

Molecular diagnosis of myotonic dystrophy.
R M Winter
J Med Genet 1993; 30: 533. doi:10.1136/jmg.30.6.533 [PDF] [Request Permissions]

Weyers' ulnar ray/oligodactyly syndrome.
M S Lungarotti and A Calabro
J Med Genet 1993; 30: 533. doi:10.1136/jmg.30.6.533-b [PDF] [Request Permissions]

The contribution of genetic factors to the pathogenesis of type I (insulin dependent) diabetes mellitus.
F J Grundbacher
J Med Genet 1993; 30: 533-535. doi:10.1136/jmg.30.6.533-c [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 >>

	Corrections J Med Genet 1993; 30: 528. doi:10.1136/jmg.30.6.528 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Expression of Xist during mouse development suggests a role in the initiation of X chromosome inactivation N S Thakker J Med Genet 1993; 30: 532. doi:10.1136/jmg.30.6.532 [PDF] [Request Permissions]

	Medical genetics: advances in brief Andrew Norman J Med Genet 1993; 30: 532. doi:10.1136/jmg.30.6.532-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Mutations in the Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis Andrew Wilkie J Med Genet 1993; 30: 532. doi:10.1136/jmg.30.6.532-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: Intellectual development at age of 12 years of children with congenital hypothyroidism diagnosed by neonatal screening David Fitzpatrick J Med Genet 1993; 30: 532. doi:10.1136/jmg.30.6.532-c [PDF] [Request Permissions]

	Medical genetics: advances in brief: Congenital bilateral perisylvian syndrome: study of 31 patients W Reardon J Med Genet 1993; 30: 532. doi:10.1136/jmg.30.6.532-d [PDF] [Request Permissions]

	Our Genetic Future: The Science and Ethics of Genetic Technology Angus Clarke J Med Genet 1993; 30: 536. doi:10.1136/jmg.30.6.536 [PDF] [Request Permissions]

	Practical Molecular Virology Charles R M Bangham J Med Genet 1993; 30: 536. doi:10.1136/jmg.30.6.536-a [PDF] [Request Permissions]

	Reply Graeme K Suthers, Kay E Davies, and Susan M Huson J Med Genet 1993; 30: 533. doi:10.1136/jmg.30.6.533-a [PDF] [Request Permissions]

	Low segregation ratios in autosomal recessive disorders. S Bundey and I D Young J Med Genet 1993; 30: 449-451. doi:10.1136/jmg.30.6.449 [PDF] [Request Permissions]

	Isolation of the defective gene in X linked agammaglobulinaemia. D Vetrie J Med Genet 1993; 30: 452-453. doi:10.1136/jmg.30.6.452 [PDF] [Request Permissions]

	Population studies of the fragile X: a molecular approach. P A Jacobs, H Bullman, J Macpherson, S Youings, V Rooney, A Watson, and N R Dennis J Med Genet 1993; 30: 454-459. doi:10.1136/jmg.30.6.454 [Abstract] [PDF] [Request Permissions]

	Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. D G Evans, E J Ladusans, S Rimmer, L D Burnell, N Thakker, and P A Farndon J Med Genet 1993; 30: 460-464. doi:10.1136/jmg.30.6.460 [Abstract] [PDF] [Request Permissions]

	Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. I Dianzani, D W Howells, A Ponzone, J A Saleeba, P M Smooker, and R G Cotton J Med Genet 1993; 30: 465-469. doi:10.1136/jmg.30.6.465 [Abstract] [PDF] [Request Permissions]

	A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents. L I al-Gazali, M Khalil, and K Devadas J Med Genet 1993; 30: 470-475. doi:10.1136/jmg.30.6.470 [Abstract] [PDF] [Request Permissions]

	RFLP analysis for APP 717 mutations associated with Alzheimer's disease. S R Zeldenrust, J Murrell, M Farlow, B Ghetti, A D Roses, and M D Benson J Med Genet 1993; 30: 476-478. doi:10.1136/jmg.30.6.476 [Abstract] [PDF] [Request Permissions]

	Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles. E C Landels, P M Green, I H Ellis, A H Fensom, M M Kaback, J Lim-Steele, K Zeiger, N Levy, and M Bobrow J Med Genet 1993; 30: 479-481. doi:10.1136/jmg.30.6.479 [Abstract] [PDF] [Request Permissions]

	Three patients with ring (X) chromosomes and a severe phenotype. N R Dennis, A L Collins, J A Crolla, A E Cockwell, A M Fisher, and P A Jacobs J Med Genet 1993; 30: 482-486. doi:10.1136/jmg.30.6.482 [Abstract] [PDF] [Request Permissions]

	Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26. M A Pericak-Vance, K J Nunes, E Whisenant, D B Loeb, K W Small, J M Stajich, J B Rimmler, L H Yamaoka, D I Smith, and H A Drabkin J Med Genet 1993; 30: 487-491. doi:10.1136/jmg.30.6.487 [Abstract] [PDF] [Request Permissions]

	Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. G A Wallis, B Sykes, P H Byers, C G Mathew, D Viljoen, and P Beighton J Med Genet 1993; 30: 492-496. doi:10.1136/jmg.30.6.492 [Abstract] [PDF] [Request Permissions]

	Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia. R Coleman, S A Genet, J I Harper, and A O Wilkie J Med Genet 1993; 30: 497-500. doi:10.1136/jmg.30.6.497 [Abstract] [PDF] [Request Permissions]

	Frequency of delta F508 in a Mexican sample of cystic fibrosis patients. L Orozco, M Salcedo, J L Lezana, M Chávez, H Valdez, M Moreno, and A Carnevale J Med Genet 1993; 30: 501-502. doi:10.1136/jmg.30.6.501 [Abstract] [PDF] [Request Permissions]

	A large family with patent ductus arteriosus and unusual face. H R Davidson J Med Genet 1993; 30: 503-505. doi:10.1136/jmg.30.6.503 [Abstract] [PDF] [Request Permissions]

	Edward Meryon (1809-1880) and muscular dystrophy. A E Emery and M L Emery J Med Genet 1993; 30: 506-511. doi:10.1136/jmg.30.6.506 [Abstract] [PDF] [Request Permissions]

	A new restriction fragment length polymorphism at the DXS101 locus allows carrier detection in a family with X linked agammaglobulinaemia. A Sweatman, R Lovering, H Middleton-Price, A Jones, G Morgan, R Levinsky, and C Kinnon J Med Genet 1993; 30: 512-514. doi:10.1136/jmg.30.6.512 [Abstract] [PDF] [Request Permissions]

	Cerebellar ataxia and ectodermal dysplasia in brothers. M Baraitser, W Reardon, A McShane, and J Wilson J Med Genet 1993; 30: 515-517. doi:10.1136/jmg.30.6.515 [Abstract] [PDF] [Request Permissions]

	Deletion 9p and sex reversal. C P Bennett, Z Docherty, S A Robb, P Ramani, J R Hawkins, and D Grant J Med Genet 1993; 30: 518-520. doi:10.1136/jmg.30.6.518 [Abstract] [PDF] [Request Permissions]

	Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter. N Morichon-Delvallez, A L Delezoide, and M Vekemans J Med Genet 1993; 30: 521-524. doi:10.1136/jmg.30.6.521 [Abstract] [PDF] [Request Permissions]

	Severe intrauterine growth retardation, blepharophimosis, and cylindrical nose with midline groove: a new syndrome? C E de Die-Smulders, R P Droog, M van Dijk, and J P Fryns J Med Genet 1993; 30: 525. doi:10.1136/jmg.30.6.525 [Abstract] [PDF] [Request Permissions]

	Congenital nystagmus cosegregating with a balanced 7;15 translocation. M A Patton, S Jeffery, N Lee, and C Hogg J Med Genet 1993; 30: 526-528. doi:10.1136/jmg.30.6.526 [Abstract] [PDF] [Request Permissions]

	Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. J Clayton-Smith, T Webb, X J Cheng, M E Pembrey, and S Malcolm J Med Genet 1993; 30: 529-531. doi:10.1136/jmg.30.6.529 [Abstract] [PDF] [Request Permissions]

	Molecular diagnosis of myotonic dystrophy. R M Winter J Med Genet 1993; 30: 533. doi:10.1136/jmg.30.6.533 [PDF] [Request Permissions]

	Weyers' ulnar ray/oligodactyly syndrome. M S Lungarotti and A Calabro J Med Genet 1993; 30: 533. doi:10.1136/jmg.30.6.533-b [PDF] [Request Permissions]

	The contribution of genetic factors to the pathogenesis of type I (insulin dependent) diabetes mellitus. F J Grundbacher J Med Genet 1993; 30: 533-535. doi:10.1136/jmg.30.6.533-c [PDF] [Request Permissions]