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August 1982 (Volume 19, Number 4). [Index by author]

		Articles Miscellaneous Articles Case Reports Research Article

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Articles

Pfeiffer's type of acrocephalosyndactyly in two families
Josef Vanek and Frantisek Losan
J Med Genet 1982; 19: 289-292. doi:10.1136/jmg.19.4.289 [Abstract] [PDF] [Request Permissions]

Miscellaneous

Correction
J Med Genet 1982; 19: 320. doi:10.1136/jmg.19.4.320 [PDF] [Request Permissions]

Case Reports

The Johanson-Blizzard syndrome
M Baraitser and S V Hodgson
J Med Genet 1982; 19: 302-303. doi:10.1136/jmg.19.4.302 [Abstract] [PDF] [Request Permissions]

Pericentric inversion of chromosome 1 in an azoospermic man
András Tóth, Magdolna Gaál, György Sára, and János László
J Med Genet 1982; 19: 303-305. doi:10.1136/jmg.19.4.303 [Abstract] [PDF] [Request Permissions]

Research Article

A genetic register for Huntington's chorea in South Wales.
P S Harper, A Tyler, S Smith, P Jones, R G Newcombe, and V McBroom
J Med Genet 1982; 19: 241-245. doi:10.1136/jmg.19.4.241 [Abstract] [PDF] [Request Permissions]

A three generation family study of cleft lip with or without cleft palate.
C O Carter, K Evans, R Coffey, J A Roberts, A Buck, and M F Roberts
J Med Genet 1982; 19: 246-261. doi:10.1136/jmg.19.4.246 [Abstract] [PDF] [Request Permissions]

Measurement of erythrocyte membrane elasticity as a diagnostic aid in Duchenne muscular dystrophy.
G B Nash and S J Wyard
J Med Genet 1982; 19: 262-265. doi:10.1136/jmg.19.4.262 [Abstract] [PDF] [Request Permissions]

Linkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa.
L L Field, J R Heckenlively, R S Sparkes, C A Garcia, C Farson, D Zedalis, M C Sparkes, M Crist, S Tideman, and M A Spence
J Med Genet 1982; 19: 266-270. doi:10.1136/jmg.19.4.266 [Abstract] [PDF] [Request Permissions]

Screening for latent acute intermittent porphyria: the value of measuring both leucocyte delta-aminolaevulinic acid synthase and erythrocyte uroporphyrinogen-1-synthase activities.
K E McColl, M R Moore, G G Thompson, and A Goldberg
J Med Genet 1982; 19: 271-276. doi:10.1136/jmg.19.4.271 [Abstract] [PDF] [Request Permissions]

The incidence of Down's syndrome in Nigeria.
A A Adeyokunnu
J Med Genet 1982; 19: 277-279. doi:10.1136/jmg.19.4.277 [Abstract] [PDF] [Request Permissions]

A family study of craniosynostosis, with probable recognition of a distinct syndrome.
C O Carter, K Till, V Fraser, and R Coffey
J Med Genet 1982; 19: 280-285. doi:10.1136/jmg.19.4.280 [Abstract] [PDF] [Request Permissions]

An unusual form of familial acrocephalosyndactyly.
I D Young and P S Harper
J Med Genet 1982; 19: 286-288. doi:10.1136/jmg.19.4.286 [Abstract] [PDF] [Request Permissions]

Familial Poland anomaly.
T J David
J Med Genet 1982; 19: 293-296. doi:10.1136/jmg.19.4.293 [Abstract] [PDF] [Request Permissions]

Human chromosomal heteromorphisms in American blacks. VI. Higher incidence of longer Y owing to non-fluorescent (nf) segment.
R S Verma, M Evans-McCalla, and H Dosik
J Med Genet 1982; 19: 297-301. doi:10.1136/jmg.19.4.297 [Abstract] [PDF] [Request Permissions]

X long arm deletion with oligomenorrhoea.
K Mijin, E Stolevic, S Adzic, Z Laca, and S Markovic
J Med Genet 1982; 19: 305-306. doi:10.1136/jmg.19.4.305 [Abstract] [PDF] [Request Permissions]

Cd branding studies in a homologous Robertsonian 13;13 translocation.
D R Romain, L Columbano-Green, J Sullivan, R H Smythe, O Gebbie, R Parfitt, and C Chapman
J Med Genet 1982; 19: 306-310. doi:10.1136/jmg.19.4.306 [Abstract] [PDF] [Request Permissions]

Micromelia, polysyndactyly, multiple malformations, and fragile bones in a stillborn child.
B F Carpenter and A G Hunter
J Med Genet 1982; 19: 311. doi:10.1136/jmg.19.4.311 [PDF] [Request Permissions]

Pericentric inversion of chromosome 11 in one of two similar retarded brothers.
S L Einfeld and A Smith
J Med Genet 1982; 19: 312. doi:10.1136/jmg.19.4.312 [PDF] [Request Permissions]

Two successive partial trisomies for opposite halves of chromosome 22 in a mother with a balanced translocation.
R P Bendel, S Baldinger, C Millard, and D C Arthur
J Med Genet 1982; 19: 313. doi:10.1136/jmg.19.4.313 [PDF] [Request Permissions]

Adjacent 2 translocation involving 13q and 21q.
W W Woolf, C L Bradshaw, H E Hoyme, K L Jones, and O W Jones
J Med Genet 1982; 19: 314-315. doi:10.1136/jmg.19.4.314 [PDF] [Request Permissions]

Ectodermal dysplasia in females.
N Freire-Maia and M Pinheiro
J Med Genet 1982; 19: 316. doi:10.1136/jmg.19.4.316 [PDF] [Request Permissions]

Delineation of trisomy 9.
G S Frohlich
J Med Genet 1982; 19: 316-317. doi:10.1136/jmg.19.4.316-a [PDF] [Request Permissions]

Wishes of patients with retinitis pigmentosa concerning genetic counselling.
S Bundey and S J Crews
J Med Genet 1982; 19: 317-318. doi:10.1136/jmg.19.4.317 [PDF] [Request Permissions]

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	Pfeiffer's type of acrocephalosyndactyly in two families Josef Vanek and Frantisek Losan J Med Genet 1982; 19: 289-292. doi:10.1136/jmg.19.4.289 [Abstract] [PDF] [Request Permissions]

	Correction J Med Genet 1982; 19: 320. doi:10.1136/jmg.19.4.320 [PDF] [Request Permissions]

	The Johanson-Blizzard syndrome M Baraitser and S V Hodgson J Med Genet 1982; 19: 302-303. doi:10.1136/jmg.19.4.302 [Abstract] [PDF] [Request Permissions]

	Pericentric inversion of chromosome 1 in an azoospermic man András Tóth, Magdolna Gaál, György Sára, and János László J Med Genet 1982; 19: 303-305. doi:10.1136/jmg.19.4.303 [Abstract] [PDF] [Request Permissions]

	A genetic register for Huntington's chorea in South Wales. P S Harper, A Tyler, S Smith, P Jones, R G Newcombe, and V McBroom J Med Genet 1982; 19: 241-245. doi:10.1136/jmg.19.4.241 [Abstract] [PDF] [Request Permissions]

	A three generation family study of cleft lip with or without cleft palate. C O Carter, K Evans, R Coffey, J A Roberts, A Buck, and M F Roberts J Med Genet 1982; 19: 246-261. doi:10.1136/jmg.19.4.246 [Abstract] [PDF] [Request Permissions]

	Measurement of erythrocyte membrane elasticity as a diagnostic aid in Duchenne muscular dystrophy. G B Nash and S J Wyard J Med Genet 1982; 19: 262-265. doi:10.1136/jmg.19.4.262 [Abstract] [PDF] [Request Permissions]

	Linkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa. L L Field, J R Heckenlively, R S Sparkes, C A Garcia, C Farson, D Zedalis, M C Sparkes, M Crist, S Tideman, and M A Spence J Med Genet 1982; 19: 266-270. doi:10.1136/jmg.19.4.266 [Abstract] [PDF] [Request Permissions]

	Screening for latent acute intermittent porphyria: the value of measuring both leucocyte delta-aminolaevulinic acid synthase and erythrocyte uroporphyrinogen-1-synthase activities. K E McColl, M R Moore, G G Thompson, and A Goldberg J Med Genet 1982; 19: 271-276. doi:10.1136/jmg.19.4.271 [Abstract] [PDF] [Request Permissions]

	The incidence of Down's syndrome in Nigeria. A A Adeyokunnu J Med Genet 1982; 19: 277-279. doi:10.1136/jmg.19.4.277 [Abstract] [PDF] [Request Permissions]

	A family study of craniosynostosis, with probable recognition of a distinct syndrome. C O Carter, K Till, V Fraser, and R Coffey J Med Genet 1982; 19: 280-285. doi:10.1136/jmg.19.4.280 [Abstract] [PDF] [Request Permissions]

	An unusual form of familial acrocephalosyndactyly. I D Young and P S Harper J Med Genet 1982; 19: 286-288. doi:10.1136/jmg.19.4.286 [Abstract] [PDF] [Request Permissions]

	Familial Poland anomaly. T J David J Med Genet 1982; 19: 293-296. doi:10.1136/jmg.19.4.293 [Abstract] [PDF] [Request Permissions]

	Human chromosomal heteromorphisms in American blacks. VI. Higher incidence of longer Y owing to non-fluorescent (nf) segment. R S Verma, M Evans-McCalla, and H Dosik J Med Genet 1982; 19: 297-301. doi:10.1136/jmg.19.4.297 [Abstract] [PDF] [Request Permissions]

	X long arm deletion with oligomenorrhoea. K Mijin, E Stolevic, S Adzic, Z Laca, and S Markovic J Med Genet 1982; 19: 305-306. doi:10.1136/jmg.19.4.305 [Abstract] [PDF] [Request Permissions]

	Cd branding studies in a homologous Robertsonian 13;13 translocation. D R Romain, L Columbano-Green, J Sullivan, R H Smythe, O Gebbie, R Parfitt, and C Chapman J Med Genet 1982; 19: 306-310. doi:10.1136/jmg.19.4.306 [Abstract] [PDF] [Request Permissions]

	Micromelia, polysyndactyly, multiple malformations, and fragile bones in a stillborn child. B F Carpenter and A G Hunter J Med Genet 1982; 19: 311. doi:10.1136/jmg.19.4.311 [PDF] [Request Permissions]

	Pericentric inversion of chromosome 11 in one of two similar retarded brothers. S L Einfeld and A Smith J Med Genet 1982; 19: 312. doi:10.1136/jmg.19.4.312 [PDF] [Request Permissions]

	Two successive partial trisomies for opposite halves of chromosome 22 in a mother with a balanced translocation. R P Bendel, S Baldinger, C Millard, and D C Arthur J Med Genet 1982; 19: 313. doi:10.1136/jmg.19.4.313 [PDF] [Request Permissions]

	Adjacent 2 translocation involving 13q and 21q. W W Woolf, C L Bradshaw, H E Hoyme, K L Jones, and O W Jones J Med Genet 1982; 19: 314-315. doi:10.1136/jmg.19.4.314 [PDF] [Request Permissions]

	Ectodermal dysplasia in females. N Freire-Maia and M Pinheiro J Med Genet 1982; 19: 316. doi:10.1136/jmg.19.4.316 [PDF] [Request Permissions]

	Delineation of trisomy 9. G S Frohlich J Med Genet 1982; 19: 316-317. doi:10.1136/jmg.19.4.316-a [PDF] [Request Permissions]

	Wishes of patients with retinitis pigmentosa concerning genetic counselling. S Bundey and S J Crews J Med Genet 1982; 19: 317-318. doi:10.1136/jmg.19.4.317 [PDF] [Request Permissions]