J Med Genet -- Table of Contents (24 [5])

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May 1987 (Volume 24, Number 5). [Index by author]

		Book Reviews Conference Reports Research Article

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Book Reviews

Genetic Counseling for Clinicians
N R Dennis
J Med Genet 1987; 24: 317. doi:10.1136/jmg.24.5.317 [PDF] [Request Permissions]

Ataxia Telangiectasia: Genetics, Neuropathology, and Immunology of a Degenerative Disease of Childhood
A M R Taylor
J Med Genet 1987; 24: 317-318. doi:10.1136/jmg.24.5.317-a [PDF] [Request Permissions]

Advances in Human Genetics
S Povey
J Med Genet 1987; 24: 318. doi:10.1136/jmg.24.5.318 [PDF] [Request Permissions]

Human Hemoglobin Genetics
J B Clegg
J Med Genet 1987; 24: 318-319. doi:10.1136/jmg.24.5.318-a [PDF] [Request Permissions]

Bone Marrow Transplantation for Treatment of Lysosomal Storage Diseases
I D Young
J Med Genet 1987; 24: 319-320. doi:10.1136/jmg.24.5.319 [PDF] [Request Permissions]

Spina Bifida in South Wales. Can it be Prevented?
Norman C Nevin
J Med Genet 1987; 24: 320. doi:10.1136/jmg.24.5.320 [PDF] [Request Permissions]

Conference Reports

Seventh International Congress of Human Genetics, Berlin: Clinical impressions
A W Johnston
J Med Genet 1987; 24: 313-314. doi:10.1136/jmg.24.5.313 [PDF] [Request Permissions]

`Spontaneous and induced chromosome aberrations in germ cells of mammals and man'
Ann C Chandley
J Med Genet 1987; 24: 314-316. doi:10.1136/jmg.24.5.314 [PDF] [Request Permissions]

Research Article

Molecular genetics of human chromosome 21.
P C Watkins, R E Tanzi, S V Cheng, and J F Gusella
J Med Genet 1987; 24: 257-270. doi:10.1136/jmg.24.5.257 [Abstract] [PDF] [Request Permissions]

Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia.
J P Fryns
J Med Genet 1987; 24: 271-274. doi:10.1136/jmg.24.5.271 [PDF] [Request Permissions]

Attitudes towards predictive testing in Huntington's disease: a recent survey in Belgium.
G Evers-Kiebooms, J J Cassiman, and H van den Berghe
J Med Genet 1987; 24: 275-279. doi:10.1136/jmg.24.5.275 [Abstract] [PDF] [Request Permissions]

Structural rearrangements in the parents of children with primary trisomy 21.
D A Couzin, J L Watt, and G S Stephen
J Med Genet 1987; 24: 280-282. doi:10.1136/jmg.24.5.280 [Abstract] [PDF] [Request Permissions]

Neuraminidase deficiency: case report and review of the phenotype.
I D Young, E P Young, J Mossman, A R Fielder, and J R Moore
J Med Genet 1987; 24: 283-290. doi:10.1136/jmg.24.5.283 [Abstract] [PDF] [Request Permissions]

Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome?
J Zlotogora, Y Zilberman, A Tenenbaum, and M R Wexler
J Med Genet 1987; 24: 291-293. doi:10.1136/jmg.24.5.291 [Abstract] [PDF] [Request Permissions]

Angelman (happy puppet) syndrome in a girl and her brother.
J A Fisher, J Burn, F W Alexander, and D Gardner-Medwin
J Med Genet 1987; 24: 294-298. doi:10.1136/jmg.24.5.294 [Abstract] [PDF] [Request Permissions]

Folate sensitive site at 10q23 and its expression as a deletion.
E L Maltby and S Higgins
J Med Genet 1987; 24: 299. doi:10.1136/jmg.24.5.299 [Abstract] [PDF] [Request Permissions]

Partial trisomy 6q: case report with necropsy findings.
C J Franchino, D Beneck, M A Greco, and S R Wolman
J Med Genet 1987; 24: 300-303. doi:10.1136/jmg.24.5.300 [Abstract] [PDF] [Request Permissions]

Duplication 9p due to unequal sister chromatid exchange.
T Mattina, G Sorge, G Milone, R Garozzo, and L Conti
J Med Genet 1987; 24: 303-305. doi:10.1136/jmg.24.5.303 [Abstract] [PDF] [Request Permissions]

A case of de novo interstitial deletion 3q.
N Okada, T Hasegawa, M Osawa, and Y Fukuyama
J Med Genet 1987; 24: 305-308. doi:10.1136/jmg.24.5.305 [Abstract] [PDF] [Request Permissions]

Interstitial deletion and ring chromosome derived from 16q.
C M Krauss, D Caldwell, and L Atkins
J Med Genet 1987; 24: 308-312. doi:10.1136/jmg.24.5.308 [Abstract] [PDF] [Request Permissions]

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	Genetic Counseling for Clinicians N R Dennis J Med Genet 1987; 24: 317. doi:10.1136/jmg.24.5.317 [PDF] [Request Permissions]

	Ataxia Telangiectasia: Genetics, Neuropathology, and Immunology of a Degenerative Disease of Childhood A M R Taylor J Med Genet 1987; 24: 317-318. doi:10.1136/jmg.24.5.317-a [PDF] [Request Permissions]

	Advances in Human Genetics S Povey J Med Genet 1987; 24: 318. doi:10.1136/jmg.24.5.318 [PDF] [Request Permissions]

	Human Hemoglobin Genetics J B Clegg J Med Genet 1987; 24: 318-319. doi:10.1136/jmg.24.5.318-a [PDF] [Request Permissions]

	Bone Marrow Transplantation for Treatment of Lysosomal Storage Diseases I D Young J Med Genet 1987; 24: 319-320. doi:10.1136/jmg.24.5.319 [PDF] [Request Permissions]

	Spina Bifida in South Wales. Can it be Prevented? Norman C Nevin J Med Genet 1987; 24: 320. doi:10.1136/jmg.24.5.320 [PDF] [Request Permissions]

	Seventh International Congress of Human Genetics, Berlin: Clinical impressions A W Johnston J Med Genet 1987; 24: 313-314. doi:10.1136/jmg.24.5.313 [PDF] [Request Permissions]

	`Spontaneous and induced chromosome aberrations in germ cells of mammals and man' Ann C Chandley J Med Genet 1987; 24: 314-316. doi:10.1136/jmg.24.5.314 [PDF] [Request Permissions]

	Molecular genetics of human chromosome 21. P C Watkins, R E Tanzi, S V Cheng, and J F Gusella J Med Genet 1987; 24: 257-270. doi:10.1136/jmg.24.5.257 [Abstract] [PDF] [Request Permissions]

	Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia. J P Fryns J Med Genet 1987; 24: 271-274. doi:10.1136/jmg.24.5.271 [PDF] [Request Permissions]

	Attitudes towards predictive testing in Huntington's disease: a recent survey in Belgium. G Evers-Kiebooms, J J Cassiman, and H van den Berghe J Med Genet 1987; 24: 275-279. doi:10.1136/jmg.24.5.275 [Abstract] [PDF] [Request Permissions]

	Structural rearrangements in the parents of children with primary trisomy 21. D A Couzin, J L Watt, and G S Stephen J Med Genet 1987; 24: 280-282. doi:10.1136/jmg.24.5.280 [Abstract] [PDF] [Request Permissions]

	Neuraminidase deficiency: case report and review of the phenotype. I D Young, E P Young, J Mossman, A R Fielder, and J R Moore J Med Genet 1987; 24: 283-290. doi:10.1136/jmg.24.5.283 [Abstract] [PDF] [Request Permissions]

	Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome? J Zlotogora, Y Zilberman, A Tenenbaum, and M R Wexler J Med Genet 1987; 24: 291-293. doi:10.1136/jmg.24.5.291 [Abstract] [PDF] [Request Permissions]

	Angelman (happy puppet) syndrome in a girl and her brother. J A Fisher, J Burn, F W Alexander, and D Gardner-Medwin J Med Genet 1987; 24: 294-298. doi:10.1136/jmg.24.5.294 [Abstract] [PDF] [Request Permissions]

	Folate sensitive site at 10q23 and its expression as a deletion. E L Maltby and S Higgins J Med Genet 1987; 24: 299. doi:10.1136/jmg.24.5.299 [Abstract] [PDF] [Request Permissions]

	Partial trisomy 6q: case report with necropsy findings. C J Franchino, D Beneck, M A Greco, and S R Wolman J Med Genet 1987; 24: 300-303. doi:10.1136/jmg.24.5.300 [Abstract] [PDF] [Request Permissions]

	Duplication 9p due to unequal sister chromatid exchange. T Mattina, G Sorge, G Milone, R Garozzo, and L Conti J Med Genet 1987; 24: 303-305. doi:10.1136/jmg.24.5.303 [Abstract] [PDF] [Request Permissions]

	A case of de novo interstitial deletion 3q. N Okada, T Hasegawa, M Osawa, and Y Fukuyama J Med Genet 1987; 24: 305-308. doi:10.1136/jmg.24.5.305 [Abstract] [PDF] [Request Permissions]

	Interstitial deletion and ring chromosome derived from 16q. C M Krauss, D Caldwell, and L Atkins J Med Genet 1987; 24: 308-312. doi:10.1136/jmg.24.5.308 [Abstract] [PDF] [Request Permissions]