J Med Genet -- Table of Contents (25 [6])

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June 1988 (Volume 25, Number 6). [Index by author]

		Research Article

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Research Article

Cloning of the human alpha 1 antichymotrypsin gene and genetic analysis of the gene in relation to alpha 1 antitrypsin deficiency.
G D Kelsey, D Abeliovich, C J McMahon, D Whitehouse, G Corney, S Povey, D A Hopkinson, J Wolfe, G Mieli-Vergani, and A P Mowat
J Med Genet 1988; 25: 361-368. doi:10.1136/jmg.25.6.361 [Abstract] [PDF] [Request Permissions]

Partial gene duplication in Duchenne and Becker muscular dystrophies.
X Y Hu, A H Burghes, P N Ray, M W Thompson, E G Murphy, and R G Worton
J Med Genet 1988; 25: 369-376. doi:10.1136/jmg.25.6.369 [Abstract] [PDF] [Request Permissions]

Inherited deletion of subband Xp21.13 in a male with Duchenne muscular dystrophy.
W Werner and A W Spiegler
J Med Genet 1988; 25: 377-382. doi:10.1136/jmg.25.6.377 [Abstract] [PDF] [Request Permissions]

Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X; autosome balanced translocation.
J Zonana, S H Roberts, N S Thomas, and P S Harper
J Med Genet 1988; 25: 383-386. doi:10.1136/jmg.25.6.383 [Abstract] [PDF] [Request Permissions]

C4 null phenotypes among lupus erythematosus patients are predominantly the result of deletions covering C4 and closely linked 21-hydroxylase A genes.
J Partanen, S Koskimies, and E Johansson
J Med Genet 1988; 25: 387-391. doi:10.1136/jmg.25.6.387 [Abstract] [PDF] [Request Permissions]

A developing role in genetic counselling.
S Farnish
J Med Genet 1988; 25: 392-395. doi:10.1136/jmg.25.6.392 [Abstract] [PDF] [Request Permissions]

Birth defects following maternal exposure to ergotamine, beta blockers, and caffeine.
H E Hughes and D A Goldstein
J Med Genet 1988; 25: 396-399. doi:10.1136/jmg.25.6.396 [Abstract] [PDF] [Request Permissions]

New autosomal recessive faciodigitogenital syndrome.
A S Teebi, K K Naguib, S Al-Awadi, and Q A Al-Saleh
J Med Genet 1988; 25: 400-406. doi:10.1136/jmg.25.6.400 [Abstract] [PDF] [Request Permissions]

Clinical features and reproductive patterns in fragile X female heterozygotes.
D Z Loesch and D A Hay
J Med Genet 1988; 25: 407-414. doi:10.1136/jmg.25.6.407 [Abstract] [PDF] [Request Permissions]

Type I Gaucher disease.
J Goldblatt
J Med Genet 1988; 25: 415-418. doi:10.1136/jmg.25.6.415 [PDF] [Request Permissions]

The influence of culture media on chromosome aberration levels, sister chromatid exchange frequencies, and the rate of cell proliferation: comparison of Iscove's low folate medium with Eagle's MEM.
E J Tawn and R Earl
J Med Genet 1988; 25: 419-421. doi:10.1136/jmg.25.6.419 [PDF] [Request Permissions]

John Dalton (1766-1844).
A E Emery
J Med Genet 1988; 25: 422-426. doi:10.1136/jmg.25.6.422 [Abstract] [PDF] [Request Permissions]

Translocation (1;22) in a child with bilateral oblique facial clefts.
M Dasouki, M Barr, Jr, R P Erickson, and B Cox
J Med Genet 1988; 25: 427-429. doi:10.1136/jmg.25.6.427 [Abstract] [PDF] [Request Permissions]

Oculotrichodysplasia (OTD): a new probably autosomal recessive condition.
L Cecatto-De-Lima, M Pinheiro, and N Freire-Maia
J Med Genet 1988; 25: 430-432. doi:10.1136/jmg.25.6.430 [Abstract] [PDF] [Request Permissions]

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	Cloning of the human alpha 1 antichymotrypsin gene and genetic analysis of the gene in relation to alpha 1 antitrypsin deficiency. G D Kelsey, D Abeliovich, C J McMahon, D Whitehouse, G Corney, S Povey, D A Hopkinson, J Wolfe, G Mieli-Vergani, and A P Mowat J Med Genet 1988; 25: 361-368. doi:10.1136/jmg.25.6.361 [Abstract] [PDF] [Request Permissions]

	Partial gene duplication in Duchenne and Becker muscular dystrophies. X Y Hu, A H Burghes, P N Ray, M W Thompson, E G Murphy, and R G Worton J Med Genet 1988; 25: 369-376. doi:10.1136/jmg.25.6.369 [Abstract] [PDF] [Request Permissions]

	Inherited deletion of subband Xp21.13 in a male with Duchenne muscular dystrophy. W Werner and A W Spiegler J Med Genet 1988; 25: 377-382. doi:10.1136/jmg.25.6.377 [Abstract] [PDF] [Request Permissions]

	Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X; autosome balanced translocation. J Zonana, S H Roberts, N S Thomas, and P S Harper J Med Genet 1988; 25: 383-386. doi:10.1136/jmg.25.6.383 [Abstract] [PDF] [Request Permissions]

	C4 null phenotypes among lupus erythematosus patients are predominantly the result of deletions covering C4 and closely linked 21-hydroxylase A genes. J Partanen, S Koskimies, and E Johansson J Med Genet 1988; 25: 387-391. doi:10.1136/jmg.25.6.387 [Abstract] [PDF] [Request Permissions]

	A developing role in genetic counselling. S Farnish J Med Genet 1988; 25: 392-395. doi:10.1136/jmg.25.6.392 [Abstract] [PDF] [Request Permissions]

	Birth defects following maternal exposure to ergotamine, beta blockers, and caffeine. H E Hughes and D A Goldstein J Med Genet 1988; 25: 396-399. doi:10.1136/jmg.25.6.396 [Abstract] [PDF] [Request Permissions]

	New autosomal recessive faciodigitogenital syndrome. A S Teebi, K K Naguib, S Al-Awadi, and Q A Al-Saleh J Med Genet 1988; 25: 400-406. doi:10.1136/jmg.25.6.400 [Abstract] [PDF] [Request Permissions]

	Clinical features and reproductive patterns in fragile X female heterozygotes. D Z Loesch and D A Hay J Med Genet 1988; 25: 407-414. doi:10.1136/jmg.25.6.407 [Abstract] [PDF] [Request Permissions]

	Type I Gaucher disease. J Goldblatt J Med Genet 1988; 25: 415-418. doi:10.1136/jmg.25.6.415 [PDF] [Request Permissions]

	The influence of culture media on chromosome aberration levels, sister chromatid exchange frequencies, and the rate of cell proliferation: comparison of Iscove's low folate medium with Eagle's MEM. E J Tawn and R Earl J Med Genet 1988; 25: 419-421. doi:10.1136/jmg.25.6.419 [PDF] [Request Permissions]

	John Dalton (1766-1844). A E Emery J Med Genet 1988; 25: 422-426. doi:10.1136/jmg.25.6.422 [Abstract] [PDF] [Request Permissions]

	Translocation (1;22) in a child with bilateral oblique facial clefts. M Dasouki, M Barr, Jr, R P Erickson, and B Cox J Med Genet 1988; 25: 427-429. doi:10.1136/jmg.25.6.427 [Abstract] [PDF] [Request Permissions]

	Oculotrichodysplasia (OTD): a new probably autosomal recessive condition. L Cecatto-De-Lima, M Pinheiro, and N Freire-Maia J Med Genet 1988; 25: 430-432. doi:10.1136/jmg.25.6.430 [Abstract] [PDF] [Request Permissions]