J Med Genet -- Table of Contents (19 [2])

Subscribe here
Activate your subscription

Home > Volume 19, Number 2

Only Abstracts and PDFs available for this issue

Other Issues:
April 1982 (Volume 19, Number 2). [Index by author]

		Articles Correspondence Articles Book Reviews Case Reports Research Article

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

Table of Contents (PDF) | Advertising (PDF) | Cover (PDF) | Administration (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

The high frequency of juvenile Huntington's chorea in South Africa
M R Hayden, J M Macgregor, D S Saffer, and P H Beighton
J Med Genet 1982; 19: 94-97. doi:10.1136/jmg.19.2.94 [Abstract] [PDF] [Request Permissions]

Serum gonadotrophins in Down's syndrome
W A Campbell, Judith Lowther, Irene McKenzie, and W H Price
J Med Genet 1982; 19: 98-99. doi:10.1136/jmg.19.2.98 [Abstract] [PDF] [Request Permissions]

Autosomal dominant asymmetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia)
A E Harding, C M Hall, and M Baraitser
J Med Genet 1982; 19: 110-115. doi:10.1136/jmg.19.2.110 [Abstract] [PDF] [Request Permissions]

Roberts syndrome: clinical and cytogenetic aspects
N P Mann, J Fitzsimmons, E Fitzsimmons, and P Cooke
J Med Genet 1982; 19: 116-119. doi:10.1136/jmg.19.2.116 [Abstract] [PDF] [Request Permissions]

Autosomal recessive Klippel-Feil syndrome
Elias Oliveira Da Silva
J Med Genet 1982; 19: 130-134. doi:10.1136/jmg.19.2.130 [Abstract] [PDF] [Request Permissions]

Marshall/Stickler syndrome
Michael Baraitser
J Med Genet 1982; 19: 139-140. doi:10.1136/jmg.19.2.139 [Abstract] [PDF] [Request Permissions]

Correspondence

Inheritance of a ring 14 chromosome
Roland Walbaum
J Med Genet 1982; 19: 158. doi:10.1136/jmg.19.2.158 [PDF] [Request Permissions]

Book Reviews

Guidelines for the Testing of Chemicals for Mutagenicity
C O Carter
J Med Genet 1982; 19: 159. doi:10.1136/jmg.19.2.159 [PDF] [Request Permissions]

Genetic Engineering 1
Marcus Pembrey
J Med Genet 1982; 19: 159-160. doi:10.1136/jmg.19.2.159-a [PDF] [Request Permissions]

Dentistry in the Interdisciplinary Treatment of Genetic Diseases
M Baraitser
J Med Genet 1982; 19: 160. doi:10.1136/jmg.19.2.160 [PDF] [Request Permissions]

Case Reports

A case of inverted insertion assessed by R and G banding
Miguel A De Arce, Elizabeth Law, L Martin, and Joseph G Masterson
J Med Genet 1982; 19: 148-151. doi:10.1136/jmg.19.2.148 [Abstract] [PDF] [Request Permissions]

Familial pericentric inversion of chromosome 11 detected prenatally
Marcia H Russell, Phyllis Miller, and Allen Killam
J Med Genet 1982; 19: 151-152. doi:10.1136/jmg.19.2.151 [Abstract] [PDF] [Request Permissions]

Two pericentric inversions, inv(2)(p11q13) and inv(5)(p13q13), in a patient referred for psychiatric problems
D R Romain, C J Chapman, L Columbano-Green, R H Smythe, and O Gebbie
J Med Genet 1982; 19: 153-155. doi:10.1136/jmg.19.2.153 [Abstract] [PDF] [Request Permissions]

Partial deletion of the long arm of chromosome 4: a clinical syndrome
A Lipson, J Collist, and C Green
J Med Genet 1982; 19: 155-157. doi:10.1136/jmg.19.2.155 [Abstract] [PDF] [Request Permissions]

Research Article

Haematological and obstetric aspects of antenatal diagnosis of beta-thalassaemia: experience with 200 cases.
A Cao, M Furbetta, A Angius, A Ximenes, C Rosatelli, T Tuveri, M T Scalas, A M Falchi, G Angioni, and F Caminiti
J Med Genet 1982; 19: 81-87. doi:10.1136/jmg.19.2.81 [Abstract] [PDF] [Request Permissions]

A family study of Charcot-Marie-Tooth disease.
A P Brooks and A E Emery
J Med Genet 1982; 19: 88-93. doi:10.1136/jmg.19.2.88 [Abstract] [PDF] [Request Permissions]

Bone demineralisation in patients with Turner's syndrome.
M A Smith, J Wilson, and W H Price
J Med Genet 1982; 19: 100-103. doi:10.1136/jmg.19.2.100 [Abstract] [PDF] [Request Permissions]

A new variant of spondylometaphyseal dysplasia with autosomal dominant mode of inheritance.
J M García-Castro, C M Isales-Forsythe, and P Díaz de Garau
J Med Genet 1982; 19: 104-109. doi:10.1136/jmg.19.2.104 [Abstract] [PDF] [Request Permissions]

Family studies on the chromosomal location of the retinoblastoma gene (Rb-1).
J Morten, D G Harnden, and S Bundey
J Med Genet 1982; 19: 120-124. doi:10.1136/jmg.19.2.120 [Abstract] [PDF] [Request Permissions]

Chiasma derived genetic maps and recombination fractions: chromosome 13 with reference to the proposed 13q14 retinoblastoma locus.
R W Palmer and M A Hultén
J Med Genet 1982; 19: 125-129. doi:10.1136/jmg.19.2.125 [Abstract] [PDF] [Request Permissions]

Apparent enhanced response to the induction of sister chromatid exchange by mitomycin C in myotonic dystrophy.
Vijayalaxmi, A E Emery, and H J Evans
J Med Genet 1982; 19: 135-138. doi:10.1136/jmg.19.2.135 [Abstract] [PDF] [Request Permissions]

Parental consanguinity and the Majewski syndrome.
I L Black, J Fitzsimmons, E Fitzsimmons, and A J Thomas
J Med Genet 1982; 19: 141-143. doi:10.1136/jmg.19.2.141 [Abstract] [PDF] [Request Permissions]

Down's syndrome phenotype and autosomal gene inactivation in a child with presumed (X;21) de novo translocation.
K Taysi, R S Sparkes, T J O'Brien, and D R Dengler
J Med Genet 1982; 19: 144-148. doi:10.1136/jmg.19.2.144 [Abstract] [PDF] [Request Permissions]

A new type of osteogenesis imperfecta.
M D Crawfurd and R M Winter
J Med Genet 1982; 19: 158. doi:10.1136/jmg.19.2.158-a [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 >>

	The high frequency of juvenile Huntington's chorea in South Africa M R Hayden, J M Macgregor, D S Saffer, and P H Beighton J Med Genet 1982; 19: 94-97. doi:10.1136/jmg.19.2.94 [Abstract] [PDF] [Request Permissions]

	Serum gonadotrophins in Down's syndrome W A Campbell, Judith Lowther, Irene McKenzie, and W H Price J Med Genet 1982; 19: 98-99. doi:10.1136/jmg.19.2.98 [Abstract] [PDF] [Request Permissions]

	Autosomal dominant asymmetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia) A E Harding, C M Hall, and M Baraitser J Med Genet 1982; 19: 110-115. doi:10.1136/jmg.19.2.110 [Abstract] [PDF] [Request Permissions]

	Roberts syndrome: clinical and cytogenetic aspects N P Mann, J Fitzsimmons, E Fitzsimmons, and P Cooke J Med Genet 1982; 19: 116-119. doi:10.1136/jmg.19.2.116 [Abstract] [PDF] [Request Permissions]

	Autosomal recessive Klippel-Feil syndrome Elias Oliveira Da Silva J Med Genet 1982; 19: 130-134. doi:10.1136/jmg.19.2.130 [Abstract] [PDF] [Request Permissions]

	Marshall/Stickler syndrome Michael Baraitser J Med Genet 1982; 19: 139-140. doi:10.1136/jmg.19.2.139 [Abstract] [PDF] [Request Permissions]

	Inheritance of a ring 14 chromosome Roland Walbaum J Med Genet 1982; 19: 158. doi:10.1136/jmg.19.2.158 [PDF] [Request Permissions]

	Guidelines for the Testing of Chemicals for Mutagenicity C O Carter J Med Genet 1982; 19: 159. doi:10.1136/jmg.19.2.159 [PDF] [Request Permissions]

	Genetic Engineering 1 Marcus Pembrey J Med Genet 1982; 19: 159-160. doi:10.1136/jmg.19.2.159-a [PDF] [Request Permissions]

	Dentistry in the Interdisciplinary Treatment of Genetic Diseases M Baraitser J Med Genet 1982; 19: 160. doi:10.1136/jmg.19.2.160 [PDF] [Request Permissions]

	A case of inverted insertion assessed by R and G banding Miguel A De Arce, Elizabeth Law, L Martin, and Joseph G Masterson J Med Genet 1982; 19: 148-151. doi:10.1136/jmg.19.2.148 [Abstract] [PDF] [Request Permissions]

	Familial pericentric inversion of chromosome 11 detected prenatally Marcia H Russell, Phyllis Miller, and Allen Killam J Med Genet 1982; 19: 151-152. doi:10.1136/jmg.19.2.151 [Abstract] [PDF] [Request Permissions]

	Two pericentric inversions, inv(2)(p11q13) and inv(5)(p13q13), in a patient referred for psychiatric problems D R Romain, C J Chapman, L Columbano-Green, R H Smythe, and O Gebbie J Med Genet 1982; 19: 153-155. doi:10.1136/jmg.19.2.153 [Abstract] [PDF] [Request Permissions]

	Partial deletion of the long arm of chromosome 4: a clinical syndrome A Lipson, J Collist, and C Green J Med Genet 1982; 19: 155-157. doi:10.1136/jmg.19.2.155 [Abstract] [PDF] [Request Permissions]

	Haematological and obstetric aspects of antenatal diagnosis of beta-thalassaemia: experience with 200 cases. A Cao, M Furbetta, A Angius, A Ximenes, C Rosatelli, T Tuveri, M T Scalas, A M Falchi, G Angioni, and F Caminiti J Med Genet 1982; 19: 81-87. doi:10.1136/jmg.19.2.81 [Abstract] [PDF] [Request Permissions]

	A family study of Charcot-Marie-Tooth disease. A P Brooks and A E Emery J Med Genet 1982; 19: 88-93. doi:10.1136/jmg.19.2.88 [Abstract] [PDF] [Request Permissions]

	Bone demineralisation in patients with Turner's syndrome. M A Smith, J Wilson, and W H Price J Med Genet 1982; 19: 100-103. doi:10.1136/jmg.19.2.100 [Abstract] [PDF] [Request Permissions]

	A new variant of spondylometaphyseal dysplasia with autosomal dominant mode of inheritance. J M García-Castro, C M Isales-Forsythe, and P Díaz de Garau J Med Genet 1982; 19: 104-109. doi:10.1136/jmg.19.2.104 [Abstract] [PDF] [Request Permissions]

	Family studies on the chromosomal location of the retinoblastoma gene (Rb-1). J Morten, D G Harnden, and S Bundey J Med Genet 1982; 19: 120-124. doi:10.1136/jmg.19.2.120 [Abstract] [PDF] [Request Permissions]

	Chiasma derived genetic maps and recombination fractions: chromosome 13 with reference to the proposed 13q14 retinoblastoma locus. R W Palmer and M A Hultén J Med Genet 1982; 19: 125-129. doi:10.1136/jmg.19.2.125 [Abstract] [PDF] [Request Permissions]

	Apparent enhanced response to the induction of sister chromatid exchange by mitomycin C in myotonic dystrophy. Vijayalaxmi, A E Emery, and H J Evans J Med Genet 1982; 19: 135-138. doi:10.1136/jmg.19.2.135 [Abstract] [PDF] [Request Permissions]

	Parental consanguinity and the Majewski syndrome. I L Black, J Fitzsimmons, E Fitzsimmons, and A J Thomas J Med Genet 1982; 19: 141-143. doi:10.1136/jmg.19.2.141 [Abstract] [PDF] [Request Permissions]

	Down's syndrome phenotype and autosomal gene inactivation in a child with presumed (X;21) de novo translocation. K Taysi, R S Sparkes, T J O'Brien, and D R Dengler J Med Genet 1982; 19: 144-148. doi:10.1136/jmg.19.2.144 [Abstract] [PDF] [Request Permissions]

	A new type of osteogenesis imperfecta. M D Crawfurd and R M Winter J Med Genet 1982; 19: 158. doi:10.1136/jmg.19.2.158-a [PDF] [Request Permissions]