J Med Genet -- Table of Contents (30 [8])

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August 1993 (Volume 30, Number 8). [Index by author]

		Abstracts Book Reviews Letters to the Editor Research Article

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Abstracts

Medical genetics: advances in brief: Genetic susceptibility in familial multiple sclerosis not linked to the myelin basic protein gene
W Reardon
J Med Genet 1993; 30: 707. doi:10.1136/jmg.30.8.707 [PDF] [Request Permissions]

Medical genetics: advances in brief: Medical genetics: advances in brief
John C K Barber
J Med Genet 1993; 30: 707. doi:10.1136/jmg.30.8.707-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Medical genetics: advances in brief
N S Thakker
J Med Genet 1993; 30: 707. doi:10.1136/jmg.30.8.707-b [PDF] [Request Permissions]

Book Reviews

Human Cytogenetics: A Practical Approach
Selwyn H Roberts and Peter W Thompson
J Med Genet 1993; 30: 710. doi:10.1136/jmg.30.8.710 [PDF] [Request Permissions]

Prenatal Diagnosis and Screening
Alan Emery
J Med Genet 1993; 30: 710. doi:10.1136/jmg.30.8.710-a [PDF] [Request Permissions]

Genetics and Neurology
Susan Huson
J Med Genet 1993; 30: 710-711. doi:10.1136/jmg.30.8.710-b [PDF] [Request Permissions]

An Atlas of Clinical Syndromes: A Visual Aid to Diagnosis
Dian Donnai
J Med Genet 1993; 30: 711. doi:10.1136/jmg.30.8.711 [PDF] [Request Permissions]

Inherited Ataxias. Advances in Neurology
Sarah Bundey
J Med Genet 1993; 30: 711. doi:10.1136/jmg.30.8.711-a [PDF] [Request Permissions]

Genetic Engineering
John Harvey
J Med Genet 1993; 30: 711-712. doi:10.1136/jmg.30.8.711-b [PDF] [Request Permissions]

Molecular Genetics for the Clinician
Andrew Wilkie
J Med Genet 1993; 30: 712. doi:10.1136/jmg.30.8.712 [PDF] [Request Permissions]

The History and Development of Human Genetics
Alan Emery
J Med Genet 1993; 30: 712. doi:10.1136/jmg.30.8.712-a [PDF] [Request Permissions]

Reproductive Risks and Prenatal Diagnosis
Dian Donnai
J Med Genet 1993; 30: 712. doi:10.1136/jmg.30.8.712-b [PDF] [Request Permissions]

Letters to the Editor

Letters to the Editor
M J Owen, J Williams, R Mant, P Asherson, P McGuffin, M-A Crocq, and T Wienker
J Med Genet 1993; 30: 708-709. doi:10.1136/jmg.30.8.708-b [PDF] [Request Permissions]

Letters to the Editor
L N AL-Jader, H C Ryley, S Maguire, G Owen, S Elborn, and M C Goodchild
J Med Genet 1993; 30: 709. doi:10.1136/jmg.30.8.709-a [PDF] [Request Permissions]

Research Article

Forensic medicine and the polymerase chain reaction technique.
R Decorte and J J Cassiman
J Med Genet 1993; 30: 625-633. doi:10.1136/jmg.30.8.625 [PDF] [Request Permissions]

Association versus linkage studies in psychosis genetics.
M M Nöthen, P Propping, and R Fimmers
J Med Genet 1993; 30: 634-637. doi:10.1136/jmg.30.8.634 [PDF] [Request Permissions]

Association and linkage: complementary strategies for complex disorders.
M J Owen and P McGuffin
J Med Genet 1993; 30: 638-639. doi:10.1136/jmg.30.8.638 [PDF] [Request Permissions]

Genetic transmission of Alzheimer's disease among families in a Dutch population based study.
C M van Duijn, L A Farrer, L A Cupples, and A Hofman
J Med Genet 1993; 30: 640-646. doi:10.1136/jmg.30.8.640 [Abstract] [PDF] [Request Permissions]

Origins of the fragile X syndrome mutation.
M C Hirst, S J Knight, Z Christodoulou, P K Grewal, J P Fryns, and K E Davies
J Med Genet 1993; 30: 647-650. doi:10.1136/jmg.30.8.647 [Abstract] [PDF] [Request Permissions]

Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy?
E Watkiss, T Webb, and S Bundey
J Med Genet 1993; 30: 651-654. doi:10.1136/jmg.30.8.651 [Abstract] [PDF] [Request Permissions]

A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis.
Y T Zeng, Z R Ren, M L Zhang, Y Huang, F Y Zeng, and S Z Huang
J Med Genet 1993; 30: 655-657. doi:10.1136/jmg.30.8.655 [Abstract] [PDF] [Request Permissions]

Sequence variations in the first exon of alpha-galactosidase A.
J P Davies, B G Winchester, and S Malcolm
J Med Genet 1993; 30: 658-663. doi:10.1136/jmg.30.8.658 [Abstract] [PDF] [Request Permissions]

Classification of microphthalmos and coloboma.
M Warburg
J Med Genet 1993; 30: 664-669. doi:10.1136/jmg.30.8.664 [Abstract] [PDF] [Request Permissions]

Impact of genetic counselling after neonatal screening for Duchenne muscular dystrophy.
E Hildes, H K Jacobs, A Cameron, S S Seshia, F Booth, J A Evans, K Wrogemann, and C R Greenberg
J Med Genet 1993; 30: 670-674. doi:10.1136/jmg.30.8.670 [Abstract] [PDF] [Request Permissions]

Evaluation of molecular genetic diagnosis in the management of familial adenomatous polyposis coli: a population based study.
E R Maher, D E Barton, R Slatter, D J Koch, M H Jones, H Nagase, S J Payne, S J Charles, A T Moore, and Y Nakamura
J Med Genet 1993; 30: 675-678. doi:10.1136/jmg.30.8.675 [Abstract] [PDF] [Request Permissions]

Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation.
A R Lehmann, A F Thompson, S A Harcourt, M Stefanini, and P G Norris
J Med Genet 1993; 30: 679-682. doi:10.1136/jmg.30.8.679 [Abstract] [PDF] [Request Permissions]

Campomelic dysplasia: evidence of autosomal dominant inheritance.
S A Lynch, M L Gaunt, and A M Minford
J Med Genet 1993; 30: 683-686. doi:10.1136/jmg.30.8.683 [Abstract] [PDF] [Request Permissions]

A three generation family with fibrodysplasia ossificans progressiva.
J M Connor, H Skirton, and P W Lunt
J Med Genet 1993; 30: 687-689. doi:10.1136/jmg.30.8.687 [Abstract] [PDF] [Request Permissions]

The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV.
A Richards, P Narcisi, J Lloyd, C Ferguson, and F M Pope
J Med Genet 1993; 30: 690-693. doi:10.1136/jmg.30.8.690 [Abstract] [PDF] [Request Permissions]

A new form of familial ataxia, deafness, and mental retardation.
W Reardon, J Wilson, N Cavanagh, and M Baraitser
J Med Genet 1993; 30: 694-695. doi:10.1136/jmg.30.8.694 [Abstract] [PDF] [Request Permissions]

A new stable human dicentric chromosome, tdic(4;21)(p16;q22), in a woman with first trimester abortion.
F Wang and Y Li
J Med Genet 1993; 30: 696. doi:10.1136/jmg.30.8.696 [Abstract] [PDF] [Request Permissions]

A new case of partial trisomy 19q (q13.2-->qter) owing to an unusual maternal translocation.
D Valerio, F Lavorgna, M Scalona, and A Conte
J Med Genet 1993; 30: 697-699. doi:10.1136/jmg.30.8.697 [Abstract] [PDF] [Request Permissions]

Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes.
D Lacombe, F Serville, D Marchand, and J Battin
J Med Genet 1993; 30: 700-703. doi:10.1136/jmg.30.8.700 [Abstract] [PDF] [Request Permissions]

Dominant carpotarsal osteochondromatosis.
P Maroteaux, M Le Merrer, H Bensahel, and P Freisinger
J Med Genet 1993; 30: 704-706. doi:10.1136/jmg.30.8.704 [Abstract] [PDF] [Request Permissions]

Excess of homozygosity at the dopamine D3 receptor gene in schizophrenia not confirmed.
M M Nöthen, S Cichon, P Propping, R Fimmers, S G Schwab, and D B Wildenauer
J Med Genet 1993; 30: 708. doi:10.1136/jmg.30.8.708 [PDF] [Request Permissions]

Association between schizophrenia and homozygosity at the dopamine D3 receptor gene.
R T Morell
J Med Genet 1993; 30: 708-709. doi:10.1136/jmg.30.8.708-a [PDF] [Request Permissions]

Severity of chest disease in CF patients in relation to their genotypes.
G E Packe, Z H Miedzybrodzka, and J C Dean
J Med Genet 1993; 30: 709. doi:10.1136/jmg.30.8.709 [PDF] [Request Permissions]

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	Medical genetics: advances in brief: Genetic susceptibility in familial multiple sclerosis not linked to the myelin basic protein gene W Reardon J Med Genet 1993; 30: 707. doi:10.1136/jmg.30.8.707 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Medical genetics: advances in brief John C K Barber J Med Genet 1993; 30: 707. doi:10.1136/jmg.30.8.707-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Medical genetics: advances in brief N S Thakker J Med Genet 1993; 30: 707. doi:10.1136/jmg.30.8.707-b [PDF] [Request Permissions]

	Human Cytogenetics: A Practical Approach Selwyn H Roberts and Peter W Thompson J Med Genet 1993; 30: 710. doi:10.1136/jmg.30.8.710 [PDF] [Request Permissions]

	Prenatal Diagnosis and Screening Alan Emery J Med Genet 1993; 30: 710. doi:10.1136/jmg.30.8.710-a [PDF] [Request Permissions]

	Genetics and Neurology Susan Huson J Med Genet 1993; 30: 710-711. doi:10.1136/jmg.30.8.710-b [PDF] [Request Permissions]

	An Atlas of Clinical Syndromes: A Visual Aid to Diagnosis Dian Donnai J Med Genet 1993; 30: 711. doi:10.1136/jmg.30.8.711 [PDF] [Request Permissions]

	Inherited Ataxias. Advances in Neurology Sarah Bundey J Med Genet 1993; 30: 711. doi:10.1136/jmg.30.8.711-a [PDF] [Request Permissions]

	Genetic Engineering John Harvey J Med Genet 1993; 30: 711-712. doi:10.1136/jmg.30.8.711-b [PDF] [Request Permissions]

	Molecular Genetics for the Clinician Andrew Wilkie J Med Genet 1993; 30: 712. doi:10.1136/jmg.30.8.712 [PDF] [Request Permissions]

	The History and Development of Human Genetics Alan Emery J Med Genet 1993; 30: 712. doi:10.1136/jmg.30.8.712-a [PDF] [Request Permissions]

	Reproductive Risks and Prenatal Diagnosis Dian Donnai J Med Genet 1993; 30: 712. doi:10.1136/jmg.30.8.712-b [PDF] [Request Permissions]

	Letters to the Editor M J Owen, J Williams, R Mant, P Asherson, P McGuffin, M-A Crocq, and T Wienker J Med Genet 1993; 30: 708-709. doi:10.1136/jmg.30.8.708-b [PDF] [Request Permissions]

	Letters to the Editor L N AL-Jader, H C Ryley, S Maguire, G Owen, S Elborn, and M C Goodchild J Med Genet 1993; 30: 709. doi:10.1136/jmg.30.8.709-a [PDF] [Request Permissions]

	Forensic medicine and the polymerase chain reaction technique. R Decorte and J J Cassiman J Med Genet 1993; 30: 625-633. doi:10.1136/jmg.30.8.625 [PDF] [Request Permissions]

	Association versus linkage studies in psychosis genetics. M M Nöthen, P Propping, and R Fimmers J Med Genet 1993; 30: 634-637. doi:10.1136/jmg.30.8.634 [PDF] [Request Permissions]

	Association and linkage: complementary strategies for complex disorders. M J Owen and P McGuffin J Med Genet 1993; 30: 638-639. doi:10.1136/jmg.30.8.638 [PDF] [Request Permissions]

	Genetic transmission of Alzheimer's disease among families in a Dutch population based study. C M van Duijn, L A Farrer, L A Cupples, and A Hofman J Med Genet 1993; 30: 640-646. doi:10.1136/jmg.30.8.640 [Abstract] [PDF] [Request Permissions]

	Origins of the fragile X syndrome mutation. M C Hirst, S J Knight, Z Christodoulou, P K Grewal, J P Fryns, and K E Davies J Med Genet 1993; 30: 647-650. doi:10.1136/jmg.30.8.647 [Abstract] [PDF] [Request Permissions]

	Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy? E Watkiss, T Webb, and S Bundey J Med Genet 1993; 30: 651-654. doi:10.1136/jmg.30.8.651 [Abstract] [PDF] [Request Permissions]

	A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis. Y T Zeng, Z R Ren, M L Zhang, Y Huang, F Y Zeng, and S Z Huang J Med Genet 1993; 30: 655-657. doi:10.1136/jmg.30.8.655 [Abstract] [PDF] [Request Permissions]

	Sequence variations in the first exon of alpha-galactosidase A. J P Davies, B G Winchester, and S Malcolm J Med Genet 1993; 30: 658-663. doi:10.1136/jmg.30.8.658 [Abstract] [PDF] [Request Permissions]

	Classification of microphthalmos and coloboma. M Warburg J Med Genet 1993; 30: 664-669. doi:10.1136/jmg.30.8.664 [Abstract] [PDF] [Request Permissions]

	Impact of genetic counselling after neonatal screening for Duchenne muscular dystrophy. E Hildes, H K Jacobs, A Cameron, S S Seshia, F Booth, J A Evans, K Wrogemann, and C R Greenberg J Med Genet 1993; 30: 670-674. doi:10.1136/jmg.30.8.670 [Abstract] [PDF] [Request Permissions]

	Evaluation of molecular genetic diagnosis in the management of familial adenomatous polyposis coli: a population based study. E R Maher, D E Barton, R Slatter, D J Koch, M H Jones, H Nagase, S J Payne, S J Charles, A T Moore, and Y Nakamura J Med Genet 1993; 30: 675-678. doi:10.1136/jmg.30.8.675 [Abstract] [PDF] [Request Permissions]

	Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation. A R Lehmann, A F Thompson, S A Harcourt, M Stefanini, and P G Norris J Med Genet 1993; 30: 679-682. doi:10.1136/jmg.30.8.679 [Abstract] [PDF] [Request Permissions]

	Campomelic dysplasia: evidence of autosomal dominant inheritance. S A Lynch, M L Gaunt, and A M Minford J Med Genet 1993; 30: 683-686. doi:10.1136/jmg.30.8.683 [Abstract] [PDF] [Request Permissions]

	A three generation family with fibrodysplasia ossificans progressiva. J M Connor, H Skirton, and P W Lunt J Med Genet 1993; 30: 687-689. doi:10.1136/jmg.30.8.687 [Abstract] [PDF] [Request Permissions]

	The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV. A Richards, P Narcisi, J Lloyd, C Ferguson, and F M Pope J Med Genet 1993; 30: 690-693. doi:10.1136/jmg.30.8.690 [Abstract] [PDF] [Request Permissions]

	A new form of familial ataxia, deafness, and mental retardation. W Reardon, J Wilson, N Cavanagh, and M Baraitser J Med Genet 1993; 30: 694-695. doi:10.1136/jmg.30.8.694 [Abstract] [PDF] [Request Permissions]

	A new stable human dicentric chromosome, tdic(4;21)(p16;q22), in a woman with first trimester abortion. F Wang and Y Li J Med Genet 1993; 30: 696. doi:10.1136/jmg.30.8.696 [Abstract] [PDF] [Request Permissions]

	A new case of partial trisomy 19q (q13.2-->qter) owing to an unusual maternal translocation. D Valerio, F Lavorgna, M Scalona, and A Conte J Med Genet 1993; 30: 697-699. doi:10.1136/jmg.30.8.697 [Abstract] [PDF] [Request Permissions]

	Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes. D Lacombe, F Serville, D Marchand, and J Battin J Med Genet 1993; 30: 700-703. doi:10.1136/jmg.30.8.700 [Abstract] [PDF] [Request Permissions]

	Dominant carpotarsal osteochondromatosis. P Maroteaux, M Le Merrer, H Bensahel, and P Freisinger J Med Genet 1993; 30: 704-706. doi:10.1136/jmg.30.8.704 [Abstract] [PDF] [Request Permissions]

	Excess of homozygosity at the dopamine D3 receptor gene in schizophrenia not confirmed. M M Nöthen, S Cichon, P Propping, R Fimmers, S G Schwab, and D B Wildenauer J Med Genet 1993; 30: 708. doi:10.1136/jmg.30.8.708 [PDF] [Request Permissions]

	Association between schizophrenia and homozygosity at the dopamine D3 receptor gene. R T Morell J Med Genet 1993; 30: 708-709. doi:10.1136/jmg.30.8.708-a [PDF] [Request Permissions]

	Severity of chest disease in CF patients in relation to their genotypes. G E Packe, Z H Miedzybrodzka, and J C Dean J Med Genet 1993; 30: 709. doi:10.1136/jmg.30.8.709 [PDF] [Request Permissions]