J Med Genet -- Table of Contents (27 [7])

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July 1990 (Volume 27, Number 7). [Index by author]

		Book Reviews Research Article

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Book Reviews

Familial Alzheimer's Disease. Molecular Genetics and Clinical Perspectives
M J Mullan and M J Owen
J Med Genet 1990; 27: 472. doi:10.1136/jmg.27.7.472 [PDF] [Request Permissions]

Catalog of Teratogenic Agents
John Tolmie
J Med Genet 1990; 27: 472. doi:10.1136/jmg.27.7.472-a [PDF] [Request Permissions]

Research Article

The genetics of idiopathic torsion dystonia.
N A Fletcher
J Med Genet 1990; 27: 409-412. doi:10.1136/jmg.27.7.409 [PDF] [Request Permissions]

Recombination or heterogeneity: is there a second locus for adult polycystic kidney disease?
R G Elles, A P Read, K A Hodgkinson, A Watters, and R Harris
J Med Genet 1990; 27: 413-417. doi:10.1136/jmg.27.7.413 [Abstract] [PDF] [Request Permissions]

Genetic heterogeneity in tuberous sclerosis: phenotypic correlations.
I M Winship, J M Connor, and P H Beighton
J Med Genet 1990; 27: 418-421. doi:10.1136/jmg.27.7.418 [Abstract] [PDF] [Request Permissions]

Possible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia.
J Goodship, S Malcolm, A Clarke, and M E Pembrey
J Med Genet 1990; 27: 422-425. doi:10.1136/jmg.27.7.422 [Abstract] [PDF] [Request Permissions]

Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy.
S E Bodrug, J R Roberson, L Weiss, P N Ray, R G Worton, and D L Van Dyke
J Med Genet 1990; 27: 426-432. doi:10.1136/jmg.27.7.426 [Abstract] [PDF] [Request Permissions]

No evidence for genetic linkage of Gilles de la Tourette syndrome on chromosomes 7 and 18.
P Heutink, B J van de Wetering, G J Breedveld, J Weber, L A Sandkuyl, E J Devor, A Heiberg, M F Niermeijer, and B A Oostra
J Med Genet 1990; 27: 433-436. doi:10.1136/jmg.27.7.433 [Abstract] [PDF] [Request Permissions]

Chromosomal radiosensitivity of lymphocytes from Alzheimer's disease patients.
S E Tobi, J E Moquet, A A Edwards, D C Lloyd, and R F Itzhaki
J Med Genet 1990; 27: 437-440. doi:10.1136/jmg.27.7.437 [Abstract] [PDF] [Request Permissions]

Cancer family syndrome: cytogenetic investigations, in vitro tetraploidy, and biomarker studies in a large family.
G Guanti, F Susca, G Cristofaro, M L Caruso, S Massari, R Porsia, A Stella, and I Giorgio
J Med Genet 1990; 27: 441-445. doi:10.1136/jmg.27.7.441 [Abstract] [PDF] [Request Permissions]

EL BUSCA and the value of signals in the diagnosis of dysmorphic syndromes: good and bad handles in computer assisted differential diagnosis.
L J Salgado, J S Lopez-Camelo, and E E Castilla
J Med Genet 1990; 27: 446-450. doi:10.1136/jmg.27.7.446 [Abstract] [PDF] [Request Permissions]

Mitochondrial genome: defects, disease, and evolution.
A Clarke
J Med Genet 1990; 27: 451-456. doi:10.1136/jmg.27.7.451 [Abstract] [PDF] [Request Permissions]

The Townes-Brocks syndrome.
M O'Callaghan and I D Young
J Med Genet 1990; 27: 457-461. doi:10.1136/jmg.27.7.457 [PDF] [Request Permissions]

Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation.
C P Koiffmann, A Diament, D H de Souza, and A Wajntal
J Med Genet 1990; 27: 462-464. doi:10.1136/jmg.27.7.462 [Abstract] [PDF] [Request Permissions]

Smith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals?
P A McKeever and I D Young
J Med Genet 1990; 27: 465-466. doi:10.1136/jmg.27.7.465 [Abstract] [PDF] [Request Permissions]

Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement.
A Verloes, L Van Maldergem, P de Marneffe, J L Dufier, and P Maroteaux
J Med Genet 1990; 27: 467-471. doi:10.1136/jmg.27.7.467 [Abstract] [PDF] [Request Permissions]

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	Familial Alzheimer's Disease. Molecular Genetics and Clinical Perspectives M J Mullan and M J Owen J Med Genet 1990; 27: 472. doi:10.1136/jmg.27.7.472 [PDF] [Request Permissions]

	Catalog of Teratogenic Agents John Tolmie J Med Genet 1990; 27: 472. doi:10.1136/jmg.27.7.472-a [PDF] [Request Permissions]

	The genetics of idiopathic torsion dystonia. N A Fletcher J Med Genet 1990; 27: 409-412. doi:10.1136/jmg.27.7.409 [PDF] [Request Permissions]

	Recombination or heterogeneity: is there a second locus for adult polycystic kidney disease? R G Elles, A P Read, K A Hodgkinson, A Watters, and R Harris J Med Genet 1990; 27: 413-417. doi:10.1136/jmg.27.7.413 [Abstract] [PDF] [Request Permissions]

	Genetic heterogeneity in tuberous sclerosis: phenotypic correlations. I M Winship, J M Connor, and P H Beighton J Med Genet 1990; 27: 418-421. doi:10.1136/jmg.27.7.418 [Abstract] [PDF] [Request Permissions]

	Possible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia. J Goodship, S Malcolm, A Clarke, and M E Pembrey J Med Genet 1990; 27: 422-425. doi:10.1136/jmg.27.7.422 [Abstract] [PDF] [Request Permissions]

	Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy. S E Bodrug, J R Roberson, L Weiss, P N Ray, R G Worton, and D L Van Dyke J Med Genet 1990; 27: 426-432. doi:10.1136/jmg.27.7.426 [Abstract] [PDF] [Request Permissions]

	No evidence for genetic linkage of Gilles de la Tourette syndrome on chromosomes 7 and 18. P Heutink, B J van de Wetering, G J Breedveld, J Weber, L A Sandkuyl, E J Devor, A Heiberg, M F Niermeijer, and B A Oostra J Med Genet 1990; 27: 433-436. doi:10.1136/jmg.27.7.433 [Abstract] [PDF] [Request Permissions]

	Chromosomal radiosensitivity of lymphocytes from Alzheimer's disease patients. S E Tobi, J E Moquet, A A Edwards, D C Lloyd, and R F Itzhaki J Med Genet 1990; 27: 437-440. doi:10.1136/jmg.27.7.437 [Abstract] [PDF] [Request Permissions]

	Cancer family syndrome: cytogenetic investigations, in vitro tetraploidy, and biomarker studies in a large family. G Guanti, F Susca, G Cristofaro, M L Caruso, S Massari, R Porsia, A Stella, and I Giorgio J Med Genet 1990; 27: 441-445. doi:10.1136/jmg.27.7.441 [Abstract] [PDF] [Request Permissions]

	EL BUSCA and the value of signals in the diagnosis of dysmorphic syndromes: good and bad handles in computer assisted differential diagnosis. L J Salgado, J S Lopez-Camelo, and E E Castilla J Med Genet 1990; 27: 446-450. doi:10.1136/jmg.27.7.446 [Abstract] [PDF] [Request Permissions]

	Mitochondrial genome: defects, disease, and evolution. A Clarke J Med Genet 1990; 27: 451-456. doi:10.1136/jmg.27.7.451 [Abstract] [PDF] [Request Permissions]

	The Townes-Brocks syndrome. M O'Callaghan and I D Young J Med Genet 1990; 27: 457-461. doi:10.1136/jmg.27.7.457 [PDF] [Request Permissions]

	Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation. C P Koiffmann, A Diament, D H de Souza, and A Wajntal J Med Genet 1990; 27: 462-464. doi:10.1136/jmg.27.7.462 [Abstract] [PDF] [Request Permissions]

	Smith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals? P A McKeever and I D Young J Med Genet 1990; 27: 465-466. doi:10.1136/jmg.27.7.465 [Abstract] [PDF] [Request Permissions]

	Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement. A Verloes, L Van Maldergem, P de Marneffe, J L Dufier, and P Maroteaux J Med Genet 1990; 27: 467-471. doi:10.1136/jmg.27.7.467 [Abstract] [PDF] [Request Permissions]