J Med Genet -- Table of Contents (17 [5])

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October 1980 (Volume 17, Number 5). [Index by author]

		Articles Articles Book Reviews Case Reports Research Article

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Articles

Genetic aspects of hereditary motor and sensory neuropathy (types I and II)
A E Harding and P K Thomas
J Med Genet 1980; 17: 329-336. doi:10.1136/jmg.17.5.329 [Abstract] [PDF] [Request Permissions]

Papers presented at the Clinical Genetics Society meeting, 24—25 April 1980
J Med Genet 1980; 17: 403. doi:10.1136/jmg.17.5.403 [PDF] [Request Permissions]

Book Reviews

Genetic Diseases of the Skin
Alan E H Emery
J Med Genet 1980; 17: 406. doi:10.1136/jmg.17.5.406 [PDF] [Request Permissions]

Reproduction
D F Roberts
J Med Genet 1980; 17: 406-407. doi:10.1136/jmg.17.5.406-a [PDF] [Request Permissions]

Case Reports

A case of 47,XY,+der(15),t(3;15) (p25;qll)pat presenting as partial 3p trisomy syndrome with multiple joint contractures
Joseph H Hersh, Robert M Greenstein, Janice C Perkins, and Patricia C Reardon
J Med Genet 1980; 17: 396-398. doi:10.1136/jmg.17.5.396 [Abstract] [PDF] [Request Permissions]

Research Article

Linkage and association between HLA and 21-hydroxylase deficiency.
P T Klouda, R Harris, and D A Price
J Med Genet 1980; 17: 337-341. doi:10.1136/jmg.17.5.337 [Abstract] [PDF] [Request Permissions]

Genetic inheritance of susceptibility to tinea imbricata.
D Ravine, K J Turner, and M P Alpers
J Med Genet 1980; 17: 342-348. doi:10.1136/jmg.17.5.342 [Abstract] [PDF] [Request Permissions]

Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred.
E O da Silva, D Janovitz, and S C de Albuquerque
J Med Genet 1980; 17: 349-356. doi:10.1136/jmg.17.5.349 [Abstract] [PDF] [Request Permissions]

alpha-Thalassaemia in Sardinian infants.
R Galanello, G Diana, M Furbetta, A Angius, M A Melis, C Rosatelli, and A Cao
J Med Genet 1980; 17: 357-362. doi:10.1136/jmg.17.5.357 [Abstract] [PDF] [Request Permissions]

Origin of the additional chromosome in Down's syndrome: a study of 20 families.
D F Roberts and M H Callow
J Med Genet 1980; 17: 363-367. doi:10.1136/jmg.17.5.363 [Abstract] [PDF] [Request Permissions]

Maternal age and origin of non-disjunction in trisomy 21.
J F Mattei, S Ayme, M G Mattei, and F Giraud
J Med Genet 1980; 17: 368-372. doi:10.1136/jmg.17.5.368 [Abstract] [PDF] [Request Permissions]

Clinical manifestations of familial 13;18 translocation.
W A Blattner, M L Kistenmacher, S Tsai, H H Punnett, and E R Giblett
J Med Genet 1980; 17: 373-379. doi:10.1136/jmg.17.5.373 [Abstract] [PDF] [Request Permissions]

New C band markers of human chromosomes: C band position variants.
R B Phillips
J Med Genet 1980; 17: 380-385. doi:10.1136/jmg.17.5.380 [Abstract] [PDF] [Request Permissions]

Recent views on genetic factors in retinoblastoma.
S Bundey
J Med Genet 1980; 17: 386-387. doi:10.1136/jmg.17.5.386 [PDF] [Request Permissions]

Culture of bloody amniotic fluid for chromosome analysis: an improved method.
N M Gregson and M Johnson
J Med Genet 1980; 17: 388. doi:10.1136/jmg.17.5.388 [PDF] [Request Permissions]

A liveborn case of 49,XXXY, + 18.
N B Kardon, A L Berger, M Elice, J G Davis, and E C Jenkins
J Med Genet 1980; 17: 389-390. doi:10.1136/jmg.17.5.389 [Abstract] [PDF] [Request Permissions]

Proximal femoral focal deficiency associated with the Robin anomalad.
E R Graviss, P A Monteleone, L R Wampler, M J Silberstein, and A E Brodeur
J Med Genet 1980; 17: 390-392. doi:10.1136/jmg.17.5.390 [Abstract] [PDF] [Request Permissions]

The penta-X syndrome.
A Monheit, U Francke, B Saunders, and K L Jones
J Med Genet 1980; 17: 392-396. doi:10.1136/jmg.17.5.392 [Abstract] [PDF] [Request Permissions]

De novo duplication 1q32-q42: variability of phenotypic features in partial lq trisomics.
M S Lungarotti, A Falorni, A Calabro, F Passalacqua, and B Dallapiccola
J Med Genet 1980; 17: 398-402. doi:10.1136/jmg.17.5.398 [Abstract] [PDF] [Request Permissions]

Primary protrusio acetabuli in four generations of an Italian family.
V Ventruto, M Stabile, M L Cavaliere, L Pagano, G Fioretti, and A Celona
J Med Genet 1980; 17: 404-405. doi:10.1136/jmg.17.5.404 [PDF] [Request Permissions]

The Gordon syndrome.
B Say, D H Barber, R C Thompson, and L G Leichtman
J Med Genet 1980; 17: 405. doi:10.1136/jmg.17.5.405 [PDF] [Request Permissions]

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	Genetic aspects of hereditary motor and sensory neuropathy (types I and II) A E Harding and P K Thomas J Med Genet 1980; 17: 329-336. doi:10.1136/jmg.17.5.329 [Abstract] [PDF] [Request Permissions]

	Papers presented at the Clinical Genetics Society meeting, 24—25 April 1980 J Med Genet 1980; 17: 403. doi:10.1136/jmg.17.5.403 [PDF] [Request Permissions]

	Genetic Diseases of the Skin Alan E H Emery J Med Genet 1980; 17: 406. doi:10.1136/jmg.17.5.406 [PDF] [Request Permissions]

	Reproduction D F Roberts J Med Genet 1980; 17: 406-407. doi:10.1136/jmg.17.5.406-a [PDF] [Request Permissions]

	A case of 47,XY,+der(15),t(3;15) (p25;qll)pat presenting as partial 3p trisomy syndrome with multiple joint contractures Joseph H Hersh, Robert M Greenstein, Janice C Perkins, and Patricia C Reardon J Med Genet 1980; 17: 396-398. doi:10.1136/jmg.17.5.396 [Abstract] [PDF] [Request Permissions]

	Linkage and association between HLA and 21-hydroxylase deficiency. P T Klouda, R Harris, and D A Price J Med Genet 1980; 17: 337-341. doi:10.1136/jmg.17.5.337 [Abstract] [PDF] [Request Permissions]

	Genetic inheritance of susceptibility to tinea imbricata. D Ravine, K J Turner, and M P Alpers J Med Genet 1980; 17: 342-348. doi:10.1136/jmg.17.5.342 [Abstract] [PDF] [Request Permissions]

	Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred. E O da Silva, D Janovitz, and S C de Albuquerque J Med Genet 1980; 17: 349-356. doi:10.1136/jmg.17.5.349 [Abstract] [PDF] [Request Permissions]

	alpha-Thalassaemia in Sardinian infants. R Galanello, G Diana, M Furbetta, A Angius, M A Melis, C Rosatelli, and A Cao J Med Genet 1980; 17: 357-362. doi:10.1136/jmg.17.5.357 [Abstract] [PDF] [Request Permissions]

	Origin of the additional chromosome in Down's syndrome: a study of 20 families. D F Roberts and M H Callow J Med Genet 1980; 17: 363-367. doi:10.1136/jmg.17.5.363 [Abstract] [PDF] [Request Permissions]

	Maternal age and origin of non-disjunction in trisomy 21. J F Mattei, S Ayme, M G Mattei, and F Giraud J Med Genet 1980; 17: 368-372. doi:10.1136/jmg.17.5.368 [Abstract] [PDF] [Request Permissions]

	Clinical manifestations of familial 13;18 translocation. W A Blattner, M L Kistenmacher, S Tsai, H H Punnett, and E R Giblett J Med Genet 1980; 17: 373-379. doi:10.1136/jmg.17.5.373 [Abstract] [PDF] [Request Permissions]

	New C band markers of human chromosomes: C band position variants. R B Phillips J Med Genet 1980; 17: 380-385. doi:10.1136/jmg.17.5.380 [Abstract] [PDF] [Request Permissions]

	Recent views on genetic factors in retinoblastoma. S Bundey J Med Genet 1980; 17: 386-387. doi:10.1136/jmg.17.5.386 [PDF] [Request Permissions]

	Culture of bloody amniotic fluid for chromosome analysis: an improved method. N M Gregson and M Johnson J Med Genet 1980; 17: 388. doi:10.1136/jmg.17.5.388 [PDF] [Request Permissions]

	A liveborn case of 49,XXXY, + 18. N B Kardon, A L Berger, M Elice, J G Davis, and E C Jenkins J Med Genet 1980; 17: 389-390. doi:10.1136/jmg.17.5.389 [Abstract] [PDF] [Request Permissions]

	Proximal femoral focal deficiency associated with the Robin anomalad. E R Graviss, P A Monteleone, L R Wampler, M J Silberstein, and A E Brodeur J Med Genet 1980; 17: 390-392. doi:10.1136/jmg.17.5.390 [Abstract] [PDF] [Request Permissions]

	The penta-X syndrome. A Monheit, U Francke, B Saunders, and K L Jones J Med Genet 1980; 17: 392-396. doi:10.1136/jmg.17.5.392 [Abstract] [PDF] [Request Permissions]

	De novo duplication 1q32-q42: variability of phenotypic features in partial lq trisomics. M S Lungarotti, A Falorni, A Calabro, F Passalacqua, and B Dallapiccola J Med Genet 1980; 17: 398-402. doi:10.1136/jmg.17.5.398 [Abstract] [PDF] [Request Permissions]

	Primary protrusio acetabuli in four generations of an Italian family. V Ventruto, M Stabile, M L Cavaliere, L Pagano, G Fioretti, and A Celona J Med Genet 1980; 17: 404-405. doi:10.1136/jmg.17.5.404 [PDF] [Request Permissions]

	The Gordon syndrome. B Say, D H Barber, R C Thompson, and L G Leichtman J Med Genet 1980; 17: 405. doi:10.1136/jmg.17.5.405 [PDF] [Request Permissions]