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December 1975 (Volume 12, Number 4). [Index by author]

		Articles Articles Book Reviews Case Reports Research Article

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Articles

HUMAN CYTOGENETIC REGISTRIES
J Med Genet 1975; 12: 428. doi:10.1136/jmg.12.4.428 [PDF] [Request Permissions]

Book Reviews

Malformation Syndromes
R. H. Lindenbaum
J Med Genet 1975; 12: 431. doi:10.1136/jmg.12.4.431 [PDF] [Request Permissions]

Skeletal Dysplasias
Peter S. Harper
J Med Genet 1975; 12: 431. doi:10.1136/jmg.12.4.431-a [PDF] [Request Permissions]

Clinical Cytogenetics and Genetics
C. O. Carter
J Med Genet 1975; 12: 431-432. doi:10.1136/jmg.12.4.431-b [PDF] [Request Permissions]

Progress in Medical Genetics, Volume X
R. Harris
J Med Genet 1975; 12: 432. doi:10.1136/jmg.12.4.432 [PDF] [Request Permissions]

Case Reports

Stub thumbs
A. B. Davies
J Med Genet 1975; 12: 414-416. doi:10.1136/jmg.12.4.414 [Abstract] [PDF] [Request Permissions]

Research Article

Genetic factors in amyloidosis.
P K Thomas
J Med Genet 1975; 12: 317-326. doi:10.1136/jmg.12.4.317 [Abstract] [PDF] [Request Permissions]

Heterozygote detection in phenylketonuria. Measurement of discriminatory ability and interpretation of the phenylalanine loading test by determination of the heterozygote likelihood ratio.
A Westwood and D N Raine
J Med Genet 1975; 12: 327-333. doi:10.1136/jmg.12.4.327 [Abstract] [PDF] [Request Permissions]

Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly in sibs: a case for fetoscopy.
K M Laurence, R Prosser, I Rocker, J F Pearson, and C Richard
J Med Genet 1975; 12: 334-338. doi:10.1136/jmg.12.4.334 [Abstract] [PDF] [Request Permissions]

Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature.
C Sirinavin and A A Trowbridge
J Med Genet 1975; 12: 339-354. doi:10.1136/jmg.12.4.339 [Abstract] [PDF] [Request Permissions]

Polydactyly and brachymetapody in two English families.
S B Holt
J Med Genet 1975; 12: 355-366. doi:10.1136/jmg.12.4.355 [Abstract] [PDF] [Request Permissions]

X-linked mental retardation associated with macro-orchidism.
G Turner, C Eastman, J Casey, A McLeay, P Procopis, and B Turner
J Med Genet 1975; 12: 367-371. doi:10.1136/jmg.12.4.367 [Abstract] [PDF] [Request Permissions]

Genetics of the complement system.
P Lachmann
J Med Genet 1975; 12: 372-377. doi:10.1136/jmg.12.4.372 [Abstract] [PDF] [Request Permissions]

Differences in human X isochromosomes.
J H Priest, R D Blackston, K S Au, and S L Ray
J Med Genet 1975; 12: 378-389. doi:10.1136/jmg.12.4.378 [Abstract] [PDF] [Request Permissions]

45,X Turner's syndrome in monozygotic twin sisters.
G Pescia, P E Ferrier, D Wyss-Hutin, and D Klein
J Med Genet 1975; 12: 390-396. doi:10.1136/jmg.12.4.390 [Abstract] [PDF] [Request Permissions]

The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness.
J G Hall and H Herrod
J Med Genet 1975; 12: 397-400. doi:10.1136/jmg.12.4.397 [Abstract] [PDF] [Request Permissions]

Distal brachyphalangy of the thumb in mental retardation.
M M Villaverde and J A da Silva
J Med Genet 1975; 12: 401-404. doi:10.1136/jmg.12.4.401 [Abstract] [PDF] [Request Permissions]

The search for relevant cell culture research in cystic fibrosis: one researcher's opinion.
B S Danes
J Med Genet 1975; 12: 405-407. doi:10.1136/jmg.12.4.405 [PDF] [Request Permissions]

A family with an inherited translocation involving the no. 4/no. 21 chromosomes.
J M Darmady and M Seabright
J Med Genet 1975; 12: 408-411. doi:10.1136/jmg.12.4.408 [PDF] [Request Permissions]

Trisomy of the short arm of chromosome 10.
Y Nakagome and H Kobayashi
J Med Genet 1975; 12: 412-414. doi:10.1136/jmg.12.4.412 [Abstract] [PDF] [Request Permissions]

Autosomal recessive oculopharyngeal muscular dystrophy.
K Fried, A Arlozorov, and R Spira
J Med Genet 1975; 12: 416-418. doi:10.1136/jmg.12.4.416 [Abstract] [PDF] [Request Permissions]

Partial trisomy for the long arms of chromosome no. 5 due to insertion and further 'aneusomie de recombinaison'.
P Jalbert, H Jalbert, B Sele, C Mouriquand, J Malka, J Boucharlat, and H Pison
J Med Genet 1975; 12: 418-423. doi:10.1136/jmg.12.4.418 [Abstract] [PDF] [Request Permissions]

Bloom's syndrome: a probable new case with cytogenetic findings.
C A Bourgeois, M H Calverley, L Forman, and P E Polani
J Med Genet 1975; 12: 423-425. doi:10.1136/jmg.12.4.423 [Abstract] [PDF] [Request Permissions]

Trisomy 4q32 leads to 4qter due to a maternal 4/21 translocation.
C Baccichetti, R Tenconi, F Anglani, and F Zacchello
J Med Genet 1975; 12: 425-427. doi:10.1136/jmg.12.4.425 [Abstract] [PDF] [Request Permissions]

Letter: Mutation as the source of the abnormal gene for plasma cholinesterase.
N E Simpson
J Med Genet 1975; 12: 429-430. doi:10.1136/jmg.12.4.429 [PDF] [Request Permissions]

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	HUMAN CYTOGENETIC REGISTRIES J Med Genet 1975; 12: 428. doi:10.1136/jmg.12.4.428 [PDF] [Request Permissions]

	Malformation Syndromes R. H. Lindenbaum J Med Genet 1975; 12: 431. doi:10.1136/jmg.12.4.431 [PDF] [Request Permissions]

	Skeletal Dysplasias Peter S. Harper J Med Genet 1975; 12: 431. doi:10.1136/jmg.12.4.431-a [PDF] [Request Permissions]

	Clinical Cytogenetics and Genetics C. O. Carter J Med Genet 1975; 12: 431-432. doi:10.1136/jmg.12.4.431-b [PDF] [Request Permissions]

	Progress in Medical Genetics, Volume X R. Harris J Med Genet 1975; 12: 432. doi:10.1136/jmg.12.4.432 [PDF] [Request Permissions]

	Stub thumbs A. B. Davies J Med Genet 1975; 12: 414-416. doi:10.1136/jmg.12.4.414 [Abstract] [PDF] [Request Permissions]

	Genetic factors in amyloidosis. P K Thomas J Med Genet 1975; 12: 317-326. doi:10.1136/jmg.12.4.317 [Abstract] [PDF] [Request Permissions]

	Heterozygote detection in phenylketonuria. Measurement of discriminatory ability and interpretation of the phenylalanine loading test by determination of the heterozygote likelihood ratio. A Westwood and D N Raine J Med Genet 1975; 12: 327-333. doi:10.1136/jmg.12.4.327 [Abstract] [PDF] [Request Permissions]

	Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly in sibs: a case for fetoscopy. K M Laurence, R Prosser, I Rocker, J F Pearson, and C Richard J Med Genet 1975; 12: 334-338. doi:10.1136/jmg.12.4.334 [Abstract] [PDF] [Request Permissions]

	Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature. C Sirinavin and A A Trowbridge J Med Genet 1975; 12: 339-354. doi:10.1136/jmg.12.4.339 [Abstract] [PDF] [Request Permissions]

	Polydactyly and brachymetapody in two English families. S B Holt J Med Genet 1975; 12: 355-366. doi:10.1136/jmg.12.4.355 [Abstract] [PDF] [Request Permissions]

	X-linked mental retardation associated with macro-orchidism. G Turner, C Eastman, J Casey, A McLeay, P Procopis, and B Turner J Med Genet 1975; 12: 367-371. doi:10.1136/jmg.12.4.367 [Abstract] [PDF] [Request Permissions]

	Genetics of the complement system. P Lachmann J Med Genet 1975; 12: 372-377. doi:10.1136/jmg.12.4.372 [Abstract] [PDF] [Request Permissions]

	Differences in human X isochromosomes. J H Priest, R D Blackston, K S Au, and S L Ray J Med Genet 1975; 12: 378-389. doi:10.1136/jmg.12.4.378 [Abstract] [PDF] [Request Permissions]

	45,X Turner's syndrome in monozygotic twin sisters. G Pescia, P E Ferrier, D Wyss-Hutin, and D Klein J Med Genet 1975; 12: 390-396. doi:10.1136/jmg.12.4.390 [Abstract] [PDF] [Request Permissions]

	The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness. J G Hall and H Herrod J Med Genet 1975; 12: 397-400. doi:10.1136/jmg.12.4.397 [Abstract] [PDF] [Request Permissions]

	Distal brachyphalangy of the thumb in mental retardation. M M Villaverde and J A da Silva J Med Genet 1975; 12: 401-404. doi:10.1136/jmg.12.4.401 [Abstract] [PDF] [Request Permissions]

	The search for relevant cell culture research in cystic fibrosis: one researcher's opinion. B S Danes J Med Genet 1975; 12: 405-407. doi:10.1136/jmg.12.4.405 [PDF] [Request Permissions]

	A family with an inherited translocation involving the no. 4/no. 21 chromosomes. J M Darmady and M Seabright J Med Genet 1975; 12: 408-411. doi:10.1136/jmg.12.4.408 [PDF] [Request Permissions]

	Trisomy of the short arm of chromosome 10. Y Nakagome and H Kobayashi J Med Genet 1975; 12: 412-414. doi:10.1136/jmg.12.4.412 [Abstract] [PDF] [Request Permissions]

	Autosomal recessive oculopharyngeal muscular dystrophy. K Fried, A Arlozorov, and R Spira J Med Genet 1975; 12: 416-418. doi:10.1136/jmg.12.4.416 [Abstract] [PDF] [Request Permissions]

	Partial trisomy for the long arms of chromosome no. 5 due to insertion and further 'aneusomie de recombinaison'. P Jalbert, H Jalbert, B Sele, C Mouriquand, J Malka, J Boucharlat, and H Pison J Med Genet 1975; 12: 418-423. doi:10.1136/jmg.12.4.418 [Abstract] [PDF] [Request Permissions]

	Bloom's syndrome: a probable new case with cytogenetic findings. C A Bourgeois, M H Calverley, L Forman, and P E Polani J Med Genet 1975; 12: 423-425. doi:10.1136/jmg.12.4.423 [Abstract] [PDF] [Request Permissions]

	Trisomy 4q32 leads to 4qter due to a maternal 4/21 translocation. C Baccichetti, R Tenconi, F Anglani, and F Zacchello J Med Genet 1975; 12: 425-427. doi:10.1136/jmg.12.4.425 [Abstract] [PDF] [Request Permissions]

	Letter: Mutation as the source of the abnormal gene for plasma cholinesterase. N E Simpson J Med Genet 1975; 12: 429-430. doi:10.1136/jmg.12.4.429 [PDF] [Request Permissions]