J Med Genet -- Table of Contents (25 [5])

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May 1988 (Volume 25, Number 5). [Index by author]

		Book Reviews Research Article

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Book Reviews

Human Genetics and Medicine
Peter S Harper
J Med Genet 1988; 25: 359. doi:10.1136/jmg.25.5.359 [PDF] [Request Permissions]

Primer of Genetic Analysis
Oliver Quarrell
J Med Genet 1988; 25: 359. doi:10.1136/jmg.25.5.359-a [PDF] [Request Permissions]

Current Concepts in Craniofacial Anomalies. A Symposium in Honour of Joseph J Bonner
Dian Donnai
J Med Genet 1988; 25: 359-360. doi:10.1136/jmg.25.5.359-b [PDF] [Request Permissions]

Veterinary Genetics
Andrew P Read
J Med Genet 1988; 25: 360. doi:10.1136/jmg.25.5.360 [PDF] [Request Permissions]

Research Article

Screening for fetal and genetic abnormality: social and ethical issues.
R Harris
J Med Genet 1988; 25: 289. doi:10.1136/jmg.25.5.289 [PDF] [Request Permissions]

Screening for fetal and genetic abnormality: social and ethical issues.
G R Dunstan
J Med Genet 1988; 25: 290-293. doi:10.1136/jmg.25.5.290 [Abstract] [PDF] [Request Permissions]

Genetic markers on chromosome 7.
L C Tsui
J Med Genet 1988; 25: 294-306. doi:10.1136/jmg.25.5.294 [Abstract] [PDF] [Request Permissions]

Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia.
C Camaschella, A Serra, G Saglio, M T Bertero, U Mazza, S Terzoli, B Brambati, L Cremonesi, M Travi, and M Ferrari
J Med Genet 1988; 25: 307-310. doi:10.1136/jmg.25.5.307 [Abstract] [PDF] [Request Permissions]

Exclusion of calcitonin as a candidate gene for the basic defect in a family with autosomal dominant supravalvular aortic stenosis.
C P Bennett, J Burn, G E Moore, J Chambers, R Williamson, and J Wilkinson
J Med Genet 1988; 25: 311-312. doi:10.1136/jmg.25.5.311 [Abstract] [PDF] [Request Permissions]

Sorsby syndrome: a report on further generations of the original family.
E M Thompson and M Baraitser
J Med Genet 1988; 25: 313-321. doi:10.1136/jmg.25.5.313 [Abstract] [PDF] [Request Permissions]

Intrafamilial clinical variability of type 1 Gaucher disease in a French-Canadian family.
F Y Choy
J Med Genet 1988; 25: 322-325. doi:10.1136/jmg.25.5.322 [Abstract] [PDF] [Request Permissions]

Are double translocations double trouble?
S M Bowser-Riley, M J Griffiths, M R Creasy, P A Farndon, K E Martin, D A Thomson, S A Larkins, R A Johnson, and J L Watt
J Med Genet 1988; 25: 326-331. doi:10.1136/jmg.25.5.326 [Abstract] [PDF] [Request Permissions]

The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance.
A Schinzel
J Med Genet 1988; 25: 332-336. doi:10.1136/jmg.25.5.332 [Abstract] [PDF] [Request Permissions]

Non-opposable triphalangeal thumb in an Italian family.
A Warm, C Di Pietro, F D'Agrosa, M Cambiè, and F Gaboardi
J Med Genet 1988; 25: 337-339. doi:10.1136/jmg.25.5.337 [Abstract] [PDF] [Request Permissions]

Complete absence of external genitalia in limb-body wall complex: two cases.
A Litwin, P Merlob, and M Grunebaum
J Med Genet 1988; 25: 340-343. doi:10.1136/jmg.25.5.340 [Abstract] [PDF] [Request Permissions]

The Coffin-Lowry syndrome.
I D Young
J Med Genet 1988; 25: 344-348. doi:10.1136/jmg.25.5.344 [PDF] [Request Permissions]

A lethal short rib syndrome without polydactyly.
R M Winter
J Med Genet 1988; 25: 349-350. doi:10.1136/jmg.25.5.349 [Abstract] [PDF] [Request Permissions]

Intrauterine death in megacystis-microcolon-intestinal hypoperistalsis syndrome.
S A Farrell
J Med Genet 1988; 25: 350-351. doi:10.1136/jmg.25.5.350 [Abstract] [PDF] [Request Permissions]

Lethal osteogenesis imperfecta associated with 46,XY,inv(7)(p13q22) karyotype.
A S Knisely, A Richardson, D Abuelo, S Casey, and D B Singer
J Med Genet 1988; 25: 352-355. doi:10.1136/jmg.25.5.352 [Abstract] [PDF] [Request Permissions]

Absence of a vagina and right sided adnexa uteri in the Waardenburg syndrome: a possible clue to the embryological defect.
R M Goodman, G Oelsner, M Berkenstadt, and D Admon
J Med Genet 1988; 25: 355-357. doi:10.1136/jmg.25.5.355 [Abstract] [PDF] [Request Permissions]

Trisomy 3 mosaicism in a patient with Bartter syndrome.
F De Keyser, E Matthys, A De Paepe, M R Verschraegen-Spae, and M Matton
J Med Genet 1988; 25: 358. doi:10.1136/jmg.25.5.358 [PDF] [Request Permissions]

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	Human Genetics and Medicine Peter S Harper J Med Genet 1988; 25: 359. doi:10.1136/jmg.25.5.359 [PDF] [Request Permissions]

	Primer of Genetic Analysis Oliver Quarrell J Med Genet 1988; 25: 359. doi:10.1136/jmg.25.5.359-a [PDF] [Request Permissions]

	Current Concepts in Craniofacial Anomalies. A Symposium in Honour of Joseph J Bonner Dian Donnai J Med Genet 1988; 25: 359-360. doi:10.1136/jmg.25.5.359-b [PDF] [Request Permissions]

	Veterinary Genetics Andrew P Read J Med Genet 1988; 25: 360. doi:10.1136/jmg.25.5.360 [PDF] [Request Permissions]

	Screening for fetal and genetic abnormality: social and ethical issues. R Harris J Med Genet 1988; 25: 289. doi:10.1136/jmg.25.5.289 [PDF] [Request Permissions]

	Screening for fetal and genetic abnormality: social and ethical issues. G R Dunstan J Med Genet 1988; 25: 290-293. doi:10.1136/jmg.25.5.290 [Abstract] [PDF] [Request Permissions]

	Genetic markers on chromosome 7. L C Tsui J Med Genet 1988; 25: 294-306. doi:10.1136/jmg.25.5.294 [Abstract] [PDF] [Request Permissions]

	Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia. C Camaschella, A Serra, G Saglio, M T Bertero, U Mazza, S Terzoli, B Brambati, L Cremonesi, M Travi, and M Ferrari J Med Genet 1988; 25: 307-310. doi:10.1136/jmg.25.5.307 [Abstract] [PDF] [Request Permissions]

	Exclusion of calcitonin as a candidate gene for the basic defect in a family with autosomal dominant supravalvular aortic stenosis. C P Bennett, J Burn, G E Moore, J Chambers, R Williamson, and J Wilkinson J Med Genet 1988; 25: 311-312. doi:10.1136/jmg.25.5.311 [Abstract] [PDF] [Request Permissions]

	Sorsby syndrome: a report on further generations of the original family. E M Thompson and M Baraitser J Med Genet 1988; 25: 313-321. doi:10.1136/jmg.25.5.313 [Abstract] [PDF] [Request Permissions]

	Intrafamilial clinical variability of type 1 Gaucher disease in a French-Canadian family. F Y Choy J Med Genet 1988; 25: 322-325. doi:10.1136/jmg.25.5.322 [Abstract] [PDF] [Request Permissions]

	Are double translocations double trouble? S M Bowser-Riley, M J Griffiths, M R Creasy, P A Farndon, K E Martin, D A Thomson, S A Larkins, R A Johnson, and J L Watt J Med Genet 1988; 25: 326-331. doi:10.1136/jmg.25.5.326 [Abstract] [PDF] [Request Permissions]

	The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance. A Schinzel J Med Genet 1988; 25: 332-336. doi:10.1136/jmg.25.5.332 [Abstract] [PDF] [Request Permissions]

	Non-opposable triphalangeal thumb in an Italian family. A Warm, C Di Pietro, F D'Agrosa, M Cambiè, and F Gaboardi J Med Genet 1988; 25: 337-339. doi:10.1136/jmg.25.5.337 [Abstract] [PDF] [Request Permissions]

	Complete absence of external genitalia in limb-body wall complex: two cases. A Litwin, P Merlob, and M Grunebaum J Med Genet 1988; 25: 340-343. doi:10.1136/jmg.25.5.340 [Abstract] [PDF] [Request Permissions]

	The Coffin-Lowry syndrome. I D Young J Med Genet 1988; 25: 344-348. doi:10.1136/jmg.25.5.344 [PDF] [Request Permissions]

	A lethal short rib syndrome without polydactyly. R M Winter J Med Genet 1988; 25: 349-350. doi:10.1136/jmg.25.5.349 [Abstract] [PDF] [Request Permissions]

	Intrauterine death in megacystis-microcolon-intestinal hypoperistalsis syndrome. S A Farrell J Med Genet 1988; 25: 350-351. doi:10.1136/jmg.25.5.350 [Abstract] [PDF] [Request Permissions]

	Lethal osteogenesis imperfecta associated with 46,XY,inv(7)(p13q22) karyotype. A S Knisely, A Richardson, D Abuelo, S Casey, and D B Singer J Med Genet 1988; 25: 352-355. doi:10.1136/jmg.25.5.352 [Abstract] [PDF] [Request Permissions]

	Absence of a vagina and right sided adnexa uteri in the Waardenburg syndrome: a possible clue to the embryological defect. R M Goodman, G Oelsner, M Berkenstadt, and D Admon J Med Genet 1988; 25: 355-357. doi:10.1136/jmg.25.5.355 [Abstract] [PDF] [Request Permissions]

	Trisomy 3 mosaicism in a patient with Bartter syndrome. F De Keyser, E Matthys, A De Paepe, M R Verschraegen-Spae, and M Matton J Med Genet 1988; 25: 358. doi:10.1136/jmg.25.5.358 [PDF] [Request Permissions]