J Med Genet -- Table of Contents (13 [6])

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December 1976 (Volume 13, Number 6). [Index by author]

		Articles Articles Case Reports Research Article

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Articles

Congenital scalp defects with distal limb anomalies: Report of a family
Barbara K. Burton, Lynn Hauser, and Henry L. Nadler
J Med Genet 1976; 13: 466-468. doi:10.1136/jmg.13.6.466 [Abstract] [PDF] [Request Permissions]

Case Reports

A case of partial trisomy 3q
Hide-Aki Chiyo, Yosikazu Kuroki, Ichiro Matsui, Naoki Niitsu, and Yasuo Nakagome
J Med Genet 1976; 13: 525-528. doi:10.1136/jmg.13.6.525 [Abstract] [PDF] [Request Permissions]

Research Article

A search for linkage in cystic fibrosis.
M C Goodchild, J H Edwards, K P Glenn, C Grindey, R Harris, P Mackintosh, and J Wentzel
J Med Genet 1976; 13: 417-419. doi:10.1136/jmg.13.6.417 [Abstract] [PDF] [Request Permissions]

A family study of coarctation of the aorta.
A R Boon and D F Roberts
J Med Genet 1976; 13: 420-433. doi:10.1136/jmg.13.6.420 [Abstract] [PDF] [Request Permissions]

Infantile cystinosis in France: genetics, incidence, geographic distribution.
E Bois, J Feingold, P Frenay, and M L Briard
J Med Genet 1976; 13: 434-438. doi:10.1136/jmg.13.6.434 [Abstract] [PDF] [Request Permissions]

Pyloric stenosis in the Oxford Record Linkage Study area.
P Adelstein and J Fedrick
J Med Genet 1976; 13: 439-448. doi:10.1136/jmg.13.6.439 [Abstract] [PDF] [Request Permissions]

Lowe's syndrome: identification of carriers by lens examination.
R J Gardner and N Brown
J Med Genet 1976; 13: 449-454. doi:10.1136/jmg.13.6.449 [Abstract] [PDF] [Request Permissions]

Study on a family with anderson--Fabry's disease and associated familial spastic paraplegia.
A M Pierides, G Holti, A L Crombie, D F Roberts, S E Gardiner, A Colling, and J Anderson
J Med Genet 1976; 13: 455-461. doi:10.1136/jmg.13.6.455 [Abstract] [PDF] [Request Permissions]

Age of onset in Huntington's disease: lack of parental age effect.
W Burke
J Med Genet 1976; 13: 462-465. doi:10.1136/jmg.13.6.462 [Abstract] [PDF] [Request Permissions]

Hereditary index finger polydactyly: phenotypic, radiological, dermatoglyphic, and genetic findings in a large family.
M Atasu
J Med Genet 1976; 13: 469-476. doi:10.1136/jmg.13.6.469 [Abstract] [PDF] [Request Permissions]

Haemoglobin E Saskatoon beta 22 Glu replaced by Lys in the Shetland Islands.
S G Welch
J Med Genet 1976; 13: 477-478. doi:10.1136/jmg.13.6.477 [Abstract] [PDF] [Request Permissions]

Scrapie: a review of its relation to human disease and ageing.
E J Field
J Med Genet 1976; 13: 479-495. doi:10.1136/jmg.13.6.479 [PDF] [Request Permissions]

Dicentric X isochromosomes in man.
R T Howell, S H Roberts, and R J Beard
J Med Genet 1976; 13: 496-500. doi:10.1136/jmg.13.6.496 [Abstract] [PDF] [Request Permissions]

Abnormal chromosome 22 and recurrence of trisomy-22 syndrome.
B S Emanuel, E H Zackai, M M Aronson, W J Mellman, and P S Moorhead
J Med Genet 1976; 13: 501-506. doi:10.1136/jmg.13.6.501 [Abstract] [PDF] [Request Permissions]

Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q.
J A Sills, K E Buckton, and J A Raeburn
J Med Genet 1976; 13: 507-510. doi:10.1136/jmg.13.6.507 [Abstract] [PDF] [Request Permissions]

Levels of alpha-fetoprotein in amniotic fluids of mice (curly-tail) with neural tube defects.
M Adinolfi, S Beck, S Embury, P E Polani, and M J Seller
J Med Genet 1976; 13: 511-513. doi:10.1136/jmg.13.6.511 [Abstract] [PDF] [Request Permissions]

Atypical serum cholinesterase in a family with congenital distichiasis.
H F Shammas, K F Tabbara, and V M der Kaloustian
J Med Genet 1976; 13: 514-515. doi:10.1136/jmg.13.6.514 [Abstract] [PDF] [Request Permissions]

Triple X female and Turner's syndrome offspring.
R Guzmán-Toledano, A Ayala, A Zarate, and M Jimenez
J Med Genet 1976; 13: 516-517. doi:10.1136/jmg.13.6.516 [Abstract] [PDF] [Request Permissions]

Confirmation of trisomy 22 by trypsin-giemsa staining.
M L Begleiter, P Kulkarni, and D J Harris
J Med Genet 1976; 13: 517-520. doi:10.1136/jmg.13.6.517 [Abstract] [PDF] [Request Permissions]

Inclusion of satellites in an 18/21 translocation chromosome shown by ammonical-silver staining (sat-banding) in case of partial trisomy 18.
R L Neu, C C Ortega, G A Barg, W Pinto, Jr, L I Gardner, W M Howell, and T E Denton
J Med Genet 1976; 13: 520-522. doi:10.1136/jmg.13.6.520 [Abstract] [PDF] [Request Permissions]

Renal function studies in an infant with 4p (-) syndrome.
M Schoeneman and M M Nitowsky
J Med Genet 1976; 13: 522-525. doi:10.1136/jmg.13.6.522 [Abstract] [PDF] [Request Permissions]

A case of twin chimerism.
E Angela, E Robinson, and D North
J Med Genet 1976; 13: 528-530. doi:10.1136/jmg.13.6.528 [Abstract] [PDF] [Request Permissions]

A case of ring chromosome.
D S Brookfield and S Walker
J Med Genet 1976; 13: 530-532. doi:10.1136/jmg.13.6.530 [Abstract] [PDF] [Request Permissions]

Familial Ebstein's anomaly.
A Rosenmann, I Arad, A Simcha, and T Schaap
J Med Genet 1976; 13: 532-535. doi:10.1136/jmg.13.6.532 [Abstract] [PDF] [Request Permissions]

Partial trisomy D: a diagnostic and cytogenetic dilemma.
M M Cohen, A Rosenmann, J Dagan, and C Legum
J Med Genet 1976; 13: 535-538. doi:10.1136/jmg.13.6.535 [Abstract] [PDF] [Request Permissions]

Larsen syndrome in two generations of an Italian family.
V Ventruto, F Festa, L Sebastio, and G Sebastio
J Med Genet 1976; 13: 538-539. doi:10.1136/jmg.13.6.538 [Abstract] [PDF] [Request Permissions]

Harold Cummins (1894--1976).
S B Holt
J Med Genet 1976; 13: 540. doi:10.1136/jmg.13.6.540 [PDF] [Request Permissions]

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	Congenital scalp defects with distal limb anomalies: Report of a family Barbara K. Burton, Lynn Hauser, and Henry L. Nadler J Med Genet 1976; 13: 466-468. doi:10.1136/jmg.13.6.466 [Abstract] [PDF] [Request Permissions]

	A case of partial trisomy 3q Hide-Aki Chiyo, Yosikazu Kuroki, Ichiro Matsui, Naoki Niitsu, and Yasuo Nakagome J Med Genet 1976; 13: 525-528. doi:10.1136/jmg.13.6.525 [Abstract] [PDF] [Request Permissions]

	A search for linkage in cystic fibrosis. M C Goodchild, J H Edwards, K P Glenn, C Grindey, R Harris, P Mackintosh, and J Wentzel J Med Genet 1976; 13: 417-419. doi:10.1136/jmg.13.6.417 [Abstract] [PDF] [Request Permissions]

	A family study of coarctation of the aorta. A R Boon and D F Roberts J Med Genet 1976; 13: 420-433. doi:10.1136/jmg.13.6.420 [Abstract] [PDF] [Request Permissions]

	Infantile cystinosis in France: genetics, incidence, geographic distribution. E Bois, J Feingold, P Frenay, and M L Briard J Med Genet 1976; 13: 434-438. doi:10.1136/jmg.13.6.434 [Abstract] [PDF] [Request Permissions]

	Pyloric stenosis in the Oxford Record Linkage Study area. P Adelstein and J Fedrick J Med Genet 1976; 13: 439-448. doi:10.1136/jmg.13.6.439 [Abstract] [PDF] [Request Permissions]

	Lowe's syndrome: identification of carriers by lens examination. R J Gardner and N Brown J Med Genet 1976; 13: 449-454. doi:10.1136/jmg.13.6.449 [Abstract] [PDF] [Request Permissions]

	Study on a family with anderson--Fabry's disease and associated familial spastic paraplegia. A M Pierides, G Holti, A L Crombie, D F Roberts, S E Gardiner, A Colling, and J Anderson J Med Genet 1976; 13: 455-461. doi:10.1136/jmg.13.6.455 [Abstract] [PDF] [Request Permissions]

	Age of onset in Huntington's disease: lack of parental age effect. W Burke J Med Genet 1976; 13: 462-465. doi:10.1136/jmg.13.6.462 [Abstract] [PDF] [Request Permissions]

	Hereditary index finger polydactyly: phenotypic, radiological, dermatoglyphic, and genetic findings in a large family. M Atasu J Med Genet 1976; 13: 469-476. doi:10.1136/jmg.13.6.469 [Abstract] [PDF] [Request Permissions]

	Haemoglobin E Saskatoon beta 22 Glu replaced by Lys in the Shetland Islands. S G Welch J Med Genet 1976; 13: 477-478. doi:10.1136/jmg.13.6.477 [Abstract] [PDF] [Request Permissions]

	Scrapie: a review of its relation to human disease and ageing. E J Field J Med Genet 1976; 13: 479-495. doi:10.1136/jmg.13.6.479 [PDF] [Request Permissions]

	Dicentric X isochromosomes in man. R T Howell, S H Roberts, and R J Beard J Med Genet 1976; 13: 496-500. doi:10.1136/jmg.13.6.496 [Abstract] [PDF] [Request Permissions]

	Abnormal chromosome 22 and recurrence of trisomy-22 syndrome. B S Emanuel, E H Zackai, M M Aronson, W J Mellman, and P S Moorhead J Med Genet 1976; 13: 501-506. doi:10.1136/jmg.13.6.501 [Abstract] [PDF] [Request Permissions]

	Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q. J A Sills, K E Buckton, and J A Raeburn J Med Genet 1976; 13: 507-510. doi:10.1136/jmg.13.6.507 [Abstract] [PDF] [Request Permissions]

	Levels of alpha-fetoprotein in amniotic fluids of mice (curly-tail) with neural tube defects. M Adinolfi, S Beck, S Embury, P E Polani, and M J Seller J Med Genet 1976; 13: 511-513. doi:10.1136/jmg.13.6.511 [Abstract] [PDF] [Request Permissions]

	Atypical serum cholinesterase in a family with congenital distichiasis. H F Shammas, K F Tabbara, and V M der Kaloustian J Med Genet 1976; 13: 514-515. doi:10.1136/jmg.13.6.514 [Abstract] [PDF] [Request Permissions]

	Triple X female and Turner's syndrome offspring. R Guzmán-Toledano, A Ayala, A Zarate, and M Jimenez J Med Genet 1976; 13: 516-517. doi:10.1136/jmg.13.6.516 [Abstract] [PDF] [Request Permissions]

	Confirmation of trisomy 22 by trypsin-giemsa staining. M L Begleiter, P Kulkarni, and D J Harris J Med Genet 1976; 13: 517-520. doi:10.1136/jmg.13.6.517 [Abstract] [PDF] [Request Permissions]

	Inclusion of satellites in an 18/21 translocation chromosome shown by ammonical-silver staining (sat-banding) in case of partial trisomy 18. R L Neu, C C Ortega, G A Barg, W Pinto, Jr, L I Gardner, W M Howell, and T E Denton J Med Genet 1976; 13: 520-522. doi:10.1136/jmg.13.6.520 [Abstract] [PDF] [Request Permissions]

	Renal function studies in an infant with 4p (-) syndrome. M Schoeneman and M M Nitowsky J Med Genet 1976; 13: 522-525. doi:10.1136/jmg.13.6.522 [Abstract] [PDF] [Request Permissions]

	A case of twin chimerism. E Angela, E Robinson, and D North J Med Genet 1976; 13: 528-530. doi:10.1136/jmg.13.6.528 [Abstract] [PDF] [Request Permissions]

	A case of ring chromosome. D S Brookfield and S Walker J Med Genet 1976; 13: 530-532. doi:10.1136/jmg.13.6.530 [Abstract] [PDF] [Request Permissions]

	Familial Ebstein's anomaly. A Rosenmann, I Arad, A Simcha, and T Schaap J Med Genet 1976; 13: 532-535. doi:10.1136/jmg.13.6.532 [Abstract] [PDF] [Request Permissions]

	Partial trisomy D: a diagnostic and cytogenetic dilemma. M M Cohen, A Rosenmann, J Dagan, and C Legum J Med Genet 1976; 13: 535-538. doi:10.1136/jmg.13.6.535 [Abstract] [PDF] [Request Permissions]

	Larsen syndrome in two generations of an Italian family. V Ventruto, F Festa, L Sebastio, and G Sebastio J Med Genet 1976; 13: 538-539. doi:10.1136/jmg.13.6.538 [Abstract] [PDF] [Request Permissions]

	Harold Cummins (1894--1976). S B Holt J Med Genet 1976; 13: 540. doi:10.1136/jmg.13.6.540 [PDF] [Request Permissions]