J Med Genet -- Table of Contents (25 [2])

Subscribe here
Activate your subscription

Home > Volume 25, Number 2

Only Abstracts and PDFs available for this issue

Other Issues:
February 1988 (Volume 25, Number 2). [Index by author]

		Articles Correspondence Articles Book Reviews 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

Abstracts of the Annual Scientific Meeting of the Association of Clinical Cytogeneticists held on 30 June to 2 July 1987 at Wills Hall, University of Bristol
J Med Genet 1988; 25: 128-132. doi:10.1136/jmg.25.2.128 [PDF] [Request Permissions]

Correspondence

Correspondence
J Med Genet 1988; 25: 136. doi:10.1136/jmg.25.2.136 [PDF] [Request Permissions]

Book Reviews

Can Schizophrenia be Localized in the Brain?
Anne Farmer
J Med Genet 1988; 25: 138. doi:10.1136/jmg.25.2.138 [PDF] [Request Permissions]

Lysosomal Storage Disease: Biochemical and Clinical Aspects
J V Leonard
J Med Genet 1988; 25: 139. doi:10.1136/jmg.25.2.139 [PDF] [Request Permissions]

Human Genes and Diseases
O Quarrell
J Med Genet 1988; 25: 139. doi:10.1136/jmg.25.2.139-a [PDF] [Request Permissions]

Planning for a Healthy Baby: A Guide to Genetic and Environmental Risks
J S Fitzsimmons
J Med Genet 1988; 25: 139-140. doi:10.1136/jmg.25.2.139-b [PDF] [Request Permissions]

Duchenne Muscular Dystrophy
Sarah Bundey
J Med Genet 1988; 25: 140. doi:10.1136/jmg.25.2.140 [PDF] [Request Permissions]

Human Genetic Diseases: A Practical Approach
S Malcolm
J Med Genet 1988; 25: 140-141. doi:10.1136/jmg.25.2.140-a [PDF] [Request Permissions]

Genetic Aspects of Developmental Pathology
Robin M Winter
J Med Genet 1988; 25: 141. doi:10.1136/jmg.25.2.141 [PDF] [Request Permissions]

Genetic Disorders and the Fetus
David J H Brock
J Med Genet 1988; 25: 141-142. doi:10.1136/jmg.25.2.141-a [PDF] [Request Permissions]

Genetic and Population Studies in Wales
D F Roberts
J Med Genet 1988; 25: 142-143. doi:10.1136/jmg.25.2.142 [PDF] [Request Permissions]

The Dysmorphic Child: An Orthopedic Perspective
Ruth Wynne-Davies
J Med Genet 1988; 25: 143. doi:10.1136/jmg.25.2.143 [PDF] [Request Permissions]

Neuromuscular Diseases
Sarah Bundey
J Med Genet 1988; 25: 143-144. doi:10.1136/jmg.25.2.143-a [PDF] [Request Permissions]

In Vitro Fertilisation: Past, Present and Future
Alan McDermott
J Med Genet 1988; 25: 144. doi:10.1136/jmg.25.2.144 [PDF] [Request Permissions]

Research Article

Norrie disease resulting from a gene deletion: clinical features and DNA studies.
D Donnai, R C Mountford, and A P Read
J Med Genet 1988; 25: 73-78. doi:10.1136/jmg.25.2.73 [Abstract] [PDF] [Request Permissions]

Confirmation of prenatal diagnosis of cystic fibrosis by DNA typing of fetal tissues.
A Curtis, L Strain, M Mennie, and D J Brock
J Med Genet 1988; 25: 79-82. doi:10.1136/jmg.25.2.79 [Abstract] [PDF] [Request Permissions]

Alpha 1 antitrypsin deficiency due to Pi null: clinical presentation and evidence for molecular heterogeneity.
F J Bamforth and N A Kalsheker
J Med Genet 1988; 25: 83-87. doi:10.1136/jmg.25.2.83 [Abstract] [PDF] [Request Permissions]

Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome.
M L Merrer, M L Briard, S Girard, N Mulliez, C Moraine, and M C Imbert
J Med Genet 1988; 25: 88-95. doi:10.1136/jmg.25.2.88 [Abstract] [PDF] [Request Permissions]

An autosomal dominant multiple pterygium syndrome.
C M McKeown and R Harris
J Med Genet 1988; 25: 96-103. doi:10.1136/jmg.25.2.96 [Abstract] [PDF] [Request Permissions]

A recessive form of congenital contractures and torticollis associated with malignant hyperthermia.
U G Froster-Iskenius, J R Waterson, and J G Hall
J Med Genet 1988; 25: 104-112. doi:10.1136/jmg.25.2.104 [Abstract] [PDF] [Request Permissions]

Familial ectopic ossification.
R J Gardner, K Yun, and S M Craw
J Med Genet 1988; 25: 113-117. doi:10.1136/jmg.25.2.113 [Abstract] [PDF] [Request Permissions]

A combinatorial method for grouping cases with multiple malformations.
R M Winter, R D Clark, K Ashley, and G Gibbs
J Med Genet 1988; 25: 118-121. doi:10.1136/jmg.25.2.118 [Abstract] [PDF] [Request Permissions]

Absence of a lateral rectus muscle associated with duplication of the chromosome segment 7q32----q34.
C G Keith, G C Webb, and J G Rogers
J Med Genet 1988; 25: 122-125. doi:10.1136/jmg.25.2.122 [Abstract] [PDF] [Request Permissions]

Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7)(p21;q22).
G C Webb, C G Keith, and N T Campbell
J Med Genet 1988; 25: 125-127. doi:10.1136/jmg.25.2.125 [Abstract] [PDF] [Request Permissions]

Craniofrontonasal dysplasia.
J Hurst and M Baraitser
J Med Genet 1988; 25: 133-134. doi:10.1136/jmg.25.2.133 [PDF] [Request Permissions]

Ectrodactyly in sisters and half sisters.
R C Hennekam and E J Lommen
J Med Genet 1988; 25: 134-135. doi:10.1136/jmg.25.2.134 [PDF] [Request Permissions]

Fryns syndrome.
N Fitch
J Med Genet 1988; 25: 135. doi:10.1136/jmg.25.2.135 [PDF] [Request Permissions]

Alpha 1 antitrypsin deficiency.
D J Harris
J Med Genet 1988; 25: 135-136. doi:10.1136/jmg.25.2.135-a [PDF] [Request Permissions]

Possible evidence for genetic predisposition to nondisjunction in man.
T I Farag and A S Teebi
J Med Genet 1988; 25: 136-137. doi:10.1136/jmg.25.2.136-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 >>

	Abstracts of the Annual Scientific Meeting of the Association of Clinical Cytogeneticists held on 30 June to 2 July 1987 at Wills Hall, University of Bristol J Med Genet 1988; 25: 128-132. doi:10.1136/jmg.25.2.128 [PDF] [Request Permissions]

	Correspondence J Med Genet 1988; 25: 136. doi:10.1136/jmg.25.2.136 [PDF] [Request Permissions]

	Can Schizophrenia be Localized in the Brain? Anne Farmer J Med Genet 1988; 25: 138. doi:10.1136/jmg.25.2.138 [PDF] [Request Permissions]

	Lysosomal Storage Disease: Biochemical and Clinical Aspects J V Leonard J Med Genet 1988; 25: 139. doi:10.1136/jmg.25.2.139 [PDF] [Request Permissions]

	Human Genes and Diseases O Quarrell J Med Genet 1988; 25: 139. doi:10.1136/jmg.25.2.139-a [PDF] [Request Permissions]

	Planning for a Healthy Baby: A Guide to Genetic and Environmental Risks J S Fitzsimmons J Med Genet 1988; 25: 139-140. doi:10.1136/jmg.25.2.139-b [PDF] [Request Permissions]

	Duchenne Muscular Dystrophy Sarah Bundey J Med Genet 1988; 25: 140. doi:10.1136/jmg.25.2.140 [PDF] [Request Permissions]

	Human Genetic Diseases: A Practical Approach S Malcolm J Med Genet 1988; 25: 140-141. doi:10.1136/jmg.25.2.140-a [PDF] [Request Permissions]

	Genetic Aspects of Developmental Pathology Robin M Winter J Med Genet 1988; 25: 141. doi:10.1136/jmg.25.2.141 [PDF] [Request Permissions]

	Genetic Disorders and the Fetus David J H Brock J Med Genet 1988; 25: 141-142. doi:10.1136/jmg.25.2.141-a [PDF] [Request Permissions]

	Genetic and Population Studies in Wales D F Roberts J Med Genet 1988; 25: 142-143. doi:10.1136/jmg.25.2.142 [PDF] [Request Permissions]

	The Dysmorphic Child: An Orthopedic Perspective Ruth Wynne-Davies J Med Genet 1988; 25: 143. doi:10.1136/jmg.25.2.143 [PDF] [Request Permissions]

	Neuromuscular Diseases Sarah Bundey J Med Genet 1988; 25: 143-144. doi:10.1136/jmg.25.2.143-a [PDF] [Request Permissions]

	In Vitro Fertilisation: Past, Present and Future Alan McDermott J Med Genet 1988; 25: 144. doi:10.1136/jmg.25.2.144 [PDF] [Request Permissions]

	Norrie disease resulting from a gene deletion: clinical features and DNA studies. D Donnai, R C Mountford, and A P Read J Med Genet 1988; 25: 73-78. doi:10.1136/jmg.25.2.73 [Abstract] [PDF] [Request Permissions]

	Confirmation of prenatal diagnosis of cystic fibrosis by DNA typing of fetal tissues. A Curtis, L Strain, M Mennie, and D J Brock J Med Genet 1988; 25: 79-82. doi:10.1136/jmg.25.2.79 [Abstract] [PDF] [Request Permissions]

	Alpha 1 antitrypsin deficiency due to Pi null: clinical presentation and evidence for molecular heterogeneity. F J Bamforth and N A Kalsheker J Med Genet 1988; 25: 83-87. doi:10.1136/jmg.25.2.83 [Abstract] [PDF] [Request Permissions]

	Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome. M L Merrer, M L Briard, S Girard, N Mulliez, C Moraine, and M C Imbert J Med Genet 1988; 25: 88-95. doi:10.1136/jmg.25.2.88 [Abstract] [PDF] [Request Permissions]

	An autosomal dominant multiple pterygium syndrome. C M McKeown and R Harris J Med Genet 1988; 25: 96-103. doi:10.1136/jmg.25.2.96 [Abstract] [PDF] [Request Permissions]

	A recessive form of congenital contractures and torticollis associated with malignant hyperthermia. U G Froster-Iskenius, J R Waterson, and J G Hall J Med Genet 1988; 25: 104-112. doi:10.1136/jmg.25.2.104 [Abstract] [PDF] [Request Permissions]

	Familial ectopic ossification. R J Gardner, K Yun, and S M Craw J Med Genet 1988; 25: 113-117. doi:10.1136/jmg.25.2.113 [Abstract] [PDF] [Request Permissions]

	A combinatorial method for grouping cases with multiple malformations. R M Winter, R D Clark, K Ashley, and G Gibbs J Med Genet 1988; 25: 118-121. doi:10.1136/jmg.25.2.118 [Abstract] [PDF] [Request Permissions]

	Absence of a lateral rectus muscle associated with duplication of the chromosome segment 7q32----q34. C G Keith, G C Webb, and J G Rogers J Med Genet 1988; 25: 122-125. doi:10.1136/jmg.25.2.122 [Abstract] [PDF] [Request Permissions]

	Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7)(p21;q22). G C Webb, C G Keith, and N T Campbell J Med Genet 1988; 25: 125-127. doi:10.1136/jmg.25.2.125 [Abstract] [PDF] [Request Permissions]

	Craniofrontonasal dysplasia. J Hurst and M Baraitser J Med Genet 1988; 25: 133-134. doi:10.1136/jmg.25.2.133 [PDF] [Request Permissions]

	Ectrodactyly in sisters and half sisters. R C Hennekam and E J Lommen J Med Genet 1988; 25: 134-135. doi:10.1136/jmg.25.2.134 [PDF] [Request Permissions]

	Fryns syndrome. N Fitch J Med Genet 1988; 25: 135. doi:10.1136/jmg.25.2.135 [PDF] [Request Permissions]

	Alpha 1 antitrypsin deficiency. D J Harris J Med Genet 1988; 25: 135-136. doi:10.1136/jmg.25.2.135-a [PDF] [Request Permissions]

	Possible evidence for genetic predisposition to nondisjunction in man. T I Farag and A S Teebi J Med Genet 1988; 25: 136-137. doi:10.1136/jmg.25.2.136-a [PDF] [Request Permissions]