J Med Genet -- Table of Contents (21 [4])

Subscribe here
Activate your subscription

Home > Volume 21, Number 4

Only Abstracts and PDFs available for this issue

Other Issues:
August 1984 (Volume 21, Number 4). [Index by author]

		Articles Articles Research Article

Find articles in this issue containing these words: [Search ALL Issues]

Table of Contents (PDF) | Cover (PDF)

To see an article, click its [Full Text] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstracts' button. To see one abstract at a time, click its [Abstract] link.

Articles

Editorial
C A Clarke
J Med Genet 1984; 21: 241-242. doi:10.1136/jmg.21.4.241 [PDF] [Request Permissions]

Abstracts of the meeting of the Clinical Genetics Society held on 5 and 6 April 1984 at Salford University, Manchester
J Med Genet 1984; 21: 298-302. doi:10.1136/jmg.21.4.298 [PDF] [Request Permissions]

Research Article

Survey of the human acetylator polymorphism in spontaneous disorders.
D A Evans
J Med Genet 1984; 21: 243-253. doi:10.1136/jmg.21.4.243 [Abstract] [PDF] [Request Permissions]

Growth hormone inhibition causes increased selenium levels in Duchenne muscular dystrophy: a possible new approach to therapy.
P J Collipp, J Kelemen, S Y Chen, M Castro-Magana, M Angulo, and A Derenoncourt
J Med Genet 1984; 21: 254-256. doi:10.1136/jmg.21.4.254 [Abstract] [PDF] [Request Permissions]

The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta.
A C Nicholls, G Osse, H G Schloon, H G Lenard, S Deak, J C Myers, D J Prockop, W R Weigel, P Fryer, and F M Pope
J Med Genet 1984; 21: 257-262. doi:10.1136/jmg.21.4.257 [Abstract] [PDF] [Request Permissions]

Association of heterocellular HPFH, beta(+)-thalassaemia, and delta beta(0)-thalassaemia: haematological and molecular aspects.
L Cianetti, A Care, N M Sposi, A Giampaolo, M Calandrini, M Petrini, A Massa, M Marinucci, F Mavilio, and M Ceccanti
J Med Genet 1984; 21: 263-267. doi:10.1136/jmg.21.4.263 [Abstract] [PDF] [Request Permissions]

A screening programme for the prospective prevention of Mediterranean anaemia in Latium: results of seven years' work.
I Bianco, B Graziani, M Lerone, P Congedo, D Ponzini, F Braconi, and C Aliquo
J Med Genet 1984; 21: 268-271. doi:10.1136/jmg.21.4.268 [Abstract] [PDF] [Request Permissions]

Tuberous sclerosis: a new estimate of prevalence within the Oxford region.
A Hunt and R H Lindenbaum
J Med Genet 1984; 21: 272-277. doi:10.1136/jmg.21.4.272 [Abstract] [PDF] [Request Permissions]

Favism: looking for an autosomal gene associated with glucose-6-phosphate dehydrogenase deficiency.
C Mareni, L Repetto, G Forteleoni, T Meloni, and G F Gaetani
J Med Genet 1984; 21: 278-280. doi:10.1136/jmg.21.4.278 [Abstract] [PDF] [Request Permissions]

Familial hidradenitis suppurativa: evidence in favour of single gene transmission.
J S Fitzsimmons, E M Fitzsimmons, and G Gilbert
J Med Genet 1984; 21: 281-285. doi:10.1136/jmg.21.4.281 [Abstract] [PDF] [Request Permissions]

Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.
M D King, C L Gummer, and J B Stephenson
J Med Genet 1984; 21: 286-289. doi:10.1136/jmg.21.4.286 [Abstract] [PDF] [Request Permissions]

Observations on the epidemiology of club foot in Polynesian and Caucasian populations.
I Cartlidge
J Med Genet 1984; 21: 290-292. doi:10.1136/jmg.21.4.290 [Abstract] [PDF] [Request Permissions]

Four cases of trisomy 18 syndrome with limb reduction malformations.
A L Christianson and M M Nelson
J Med Genet 1984; 21: 293-297. doi:10.1136/jmg.21.4.293 [Abstract] [PDF] [Request Permissions]

Endocrine abnormalities in a patient with partial trisomy 4q.
M A Angulo, M Castro-Magana, J Sherman, P J Collipp, J Milson, C Trunca, and A N Derenoncourt
J Med Genet 1984; 21: 303-307. doi:10.1136/jmg.21.4.303 [Abstract] [PDF] [Request Permissions]

Deletion of the short arm of chromosome 3: a case report with necropsy findings.
D Beneck, M J Suhrland, R Dicker, M A Greco, and S R Wolman
J Med Genet 1984; 21: 307-310. doi:10.1136/jmg.21.4.307 [Abstract] [PDF] [Request Permissions]

Down's syndrome with a recombinant tandem duplication of chromosome 21 derived from a maternal ring.
R T Howell, A McDermott, A Gardner, and V Dickinson
J Med Genet 1984; 21: 310-314. doi:10.1136/jmg.21.4.310 [Abstract] [PDF] [Request Permissions]

Partial trisomy 16p due to maternal balanced translocation.
L E McMorrow, S Bornstein, R H Fischer, and M M Gluckson
J Med Genet 1984; 21: 315-316. doi:10.1136/jmg.21.4.315 [Abstract] [PDF] [Request Permissions]

Familial pericentric inversion (10) and its effect on two offspring.
M T Rodriguez, M J Martin, and J A Abrisqueta
J Med Genet 1984; 21: 317-319. doi:10.1136/jmg.21.4.317 [Abstract] [PDF] [Request Permissions]

Trisomy 9p due to unusual maternal translocation (3;9).
E Calzolari, M R Contiero, V Aiello, and L Bortotto
J Med Genet 1984; 21: 320. doi:10.1136/jmg.21.4.320 [PDF] [Request Permissions]

Register for free content

The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.

Genetics jobs

Show me all >>

	Editorial C A Clarke J Med Genet 1984; 21: 241-242. doi:10.1136/jmg.21.4.241 [PDF] [Request Permissions]

	Abstracts of the meeting of the Clinical Genetics Society held on 5 and 6 April 1984 at Salford University, Manchester J Med Genet 1984; 21: 298-302. doi:10.1136/jmg.21.4.298 [PDF] [Request Permissions]

	Survey of the human acetylator polymorphism in spontaneous disorders. D A Evans J Med Genet 1984; 21: 243-253. doi:10.1136/jmg.21.4.243 [Abstract] [PDF] [Request Permissions]

	Growth hormone inhibition causes increased selenium levels in Duchenne muscular dystrophy: a possible new approach to therapy. P J Collipp, J Kelemen, S Y Chen, M Castro-Magana, M Angulo, and A Derenoncourt J Med Genet 1984; 21: 254-256. doi:10.1136/jmg.21.4.254 [Abstract] [PDF] [Request Permissions]

	The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta. A C Nicholls, G Osse, H G Schloon, H G Lenard, S Deak, J C Myers, D J Prockop, W R Weigel, P Fryer, and F M Pope J Med Genet 1984; 21: 257-262. doi:10.1136/jmg.21.4.257 [Abstract] [PDF] [Request Permissions]

	Association of heterocellular HPFH, beta(+)-thalassaemia, and delta beta(0)-thalassaemia: haematological and molecular aspects. L Cianetti, A Care, N M Sposi, A Giampaolo, M Calandrini, M Petrini, A Massa, M Marinucci, F Mavilio, and M Ceccanti J Med Genet 1984; 21: 263-267. doi:10.1136/jmg.21.4.263 [Abstract] [PDF] [Request Permissions]

	A screening programme for the prospective prevention of Mediterranean anaemia in Latium: results of seven years' work. I Bianco, B Graziani, M Lerone, P Congedo, D Ponzini, F Braconi, and C Aliquo J Med Genet 1984; 21: 268-271. doi:10.1136/jmg.21.4.268 [Abstract] [PDF] [Request Permissions]

	Tuberous sclerosis: a new estimate of prevalence within the Oxford region. A Hunt and R H Lindenbaum J Med Genet 1984; 21: 272-277. doi:10.1136/jmg.21.4.272 [Abstract] [PDF] [Request Permissions]

	Favism: looking for an autosomal gene associated with glucose-6-phosphate dehydrogenase deficiency. C Mareni, L Repetto, G Forteleoni, T Meloni, and G F Gaetani J Med Genet 1984; 21: 278-280. doi:10.1136/jmg.21.4.278 [Abstract] [PDF] [Request Permissions]

	Familial hidradenitis suppurativa: evidence in favour of single gene transmission. J S Fitzsimmons, E M Fitzsimmons, and G Gilbert J Med Genet 1984; 21: 281-285. doi:10.1136/jmg.21.4.281 [Abstract] [PDF] [Request Permissions]

	Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases. M D King, C L Gummer, and J B Stephenson J Med Genet 1984; 21: 286-289. doi:10.1136/jmg.21.4.286 [Abstract] [PDF] [Request Permissions]

	Observations on the epidemiology of club foot in Polynesian and Caucasian populations. I Cartlidge J Med Genet 1984; 21: 290-292. doi:10.1136/jmg.21.4.290 [Abstract] [PDF] [Request Permissions]

	Four cases of trisomy 18 syndrome with limb reduction malformations. A L Christianson and M M Nelson J Med Genet 1984; 21: 293-297. doi:10.1136/jmg.21.4.293 [Abstract] [PDF] [Request Permissions]

	Endocrine abnormalities in a patient with partial trisomy 4q. M A Angulo, M Castro-Magana, J Sherman, P J Collipp, J Milson, C Trunca, and A N Derenoncourt J Med Genet 1984; 21: 303-307. doi:10.1136/jmg.21.4.303 [Abstract] [PDF] [Request Permissions]

	Deletion of the short arm of chromosome 3: a case report with necropsy findings. D Beneck, M J Suhrland, R Dicker, M A Greco, and S R Wolman J Med Genet 1984; 21: 307-310. doi:10.1136/jmg.21.4.307 [Abstract] [PDF] [Request Permissions]

	Down's syndrome with a recombinant tandem duplication of chromosome 21 derived from a maternal ring. R T Howell, A McDermott, A Gardner, and V Dickinson J Med Genet 1984; 21: 310-314. doi:10.1136/jmg.21.4.310 [Abstract] [PDF] [Request Permissions]

	Partial trisomy 16p due to maternal balanced translocation. L E McMorrow, S Bornstein, R H Fischer, and M M Gluckson J Med Genet 1984; 21: 315-316. doi:10.1136/jmg.21.4.315 [Abstract] [PDF] [Request Permissions]

	Familial pericentric inversion (10) and its effect on two offspring. M T Rodriguez, M J Martin, and J A Abrisqueta J Med Genet 1984; 21: 317-319. doi:10.1136/jmg.21.4.317 [Abstract] [PDF] [Request Permissions]

	Trisomy 9p due to unusual maternal translocation (3;9). E Calzolari, M R Contiero, V Aiello, and L Bortotto J Med Genet 1984; 21: 320. doi:10.1136/jmg.21.4.320 [PDF] [Request Permissions]