J Med Genet -- Table of Contents (18 [2])

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April 1981 (Volume 18, Number 2). [Index by author]

		Articles Miscellaneous Articles Book Reviews Case Reports Research Article

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Articles

Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures
Robin M Winter, Dian Donnai, and Martin d'A Crawfurd
J Med Genet 1981; 18: 129-133. doi:10.1136/jmg.18.2.129 [Abstract] [PDF] [Request Permissions]

Miscellaneous

Correction
J Med Genet 1981; 18: 159. doi:10.1136/jmg.18.2.159 [PDF] [Request Permissions]

Book Reviews

The Management of Genetic Disorders
Peter S Harper
J Med Genet 1981; 18: 160. doi:10.1136/jmg.18.2.160 [PDF] [Request Permissions]

Principles of Gene Manipulation. An Introduction to Genetic Engineering
Derek Wood
J Med Genet 1981; 18: 160. doi:10.1136/jmg.18.2.160-a [PDF] [Request Permissions]

Case Reports

A case of trisomy of chromosome 15
S Coldwell, B Fitzgerald, J M Semmens, R Ede, and C Bateman
J Med Genet 1981; 18: 146-148. doi:10.1136/jmg.18.2.146 [Abstract] [PDF] [Request Permissions]

Congenital dislocation of the knees in a child with Down-mosaic Turner syndrome
A R Gatrad
J Med Genet 1981; 18: 148-151. doi:10.1136/jmg.18.2.148 [Abstract] [PDF] [Request Permissions]

A new probably autosomal recessive cardiomelic dysplasia with mesoaxial hexadactyly
R Martínez Y Martínez, E Corona-Rivera, M Jiménez-Martínez, R Ocampo-Campos, S García-Maravilla, and J M Cantú
J Med Genet 1981; 18: 151-154. doi:10.1136/jmg.18.2.151 [Abstract] [PDF] [Request Permissions]

Research Article

A family study of protracted diarrhoea in infancy.
F M Howard, C O Carter, D C Candy, and J T Harries
J Med Genet 1981; 18: 81-86. doi:10.1136/jmg.18.2.81 [Abstract] [PDF] [Request Permissions]

Children of those treated surgically for Hirschsprung's disease.
C O Carter, K Evans, and V Hickman
J Med Genet 1981; 18: 87-90. doi:10.1136/jmg.18.2.87 [Abstract] [PDF] [Request Permissions]

Evaluation of information-guidance genetic counselling.
A Czeizel, J Métneki, and M Osztovics
J Med Genet 1981; 18: 91-98. doi:10.1136/jmg.18.2.91 [Abstract] [PDF] [Request Permissions]

Confirmation of the multifactorial threshold model for congenital structural talipes equinovarus.
A Czeizel, A Bellyei, J Kránicz, L Mocsai, and G Tusnády
J Med Genet 1981; 18: 99-100. doi:10.1136/jmg.18.2.99 [Abstract] [PDF] [Request Permissions]

Neuronal ceroid lipofuscinosis and arthropathy: a family study.
R Proops and S H Green
J Med Genet 1981; 18: 101-104. doi:10.1136/jmg.18.2.101 [Abstract] [PDF] [Request Permissions]

Congenital hydrocephalus in two pregnancies following the birth of a child with a neural tube defect: aetiology and management.
R D Robertson, D A Sarti, W J Brown, and B F Crandall
J Med Genet 1981; 18: 105-107. doi:10.1136/jmg.18.2.105 [Abstract] [PDF] [Request Permissions]

The aetiology of the cat eye syndrome reconsidered.
G Guanti
J Med Genet 1981; 18: 108-118. doi:10.1136/jmg.18.2.108 [Abstract] [PDF] [Request Permissions]

Familial chromosome translocation t(3;18)(p21;p11).
G Buchinger, A Wettstein, and H Metze
J Med Genet 1981; 18: 119-123. doi:10.1136/jmg.18.2.119 [Abstract] [PDF] [Request Permissions]

Familial dentinogenesis imperfecta, blue sclerae, and wormian bones without fractures: another type of osteogenesis imperfecta?
P Beighton
J Med Genet 1981; 18: 124-128. doi:10.1136/jmg.18.2.124 [Abstract] [PDF] [Request Permissions]

Coincidence of neurofibromatosis and myotonic dystrophy in a kindred.
K Ichikawa, C J Crosley, A Culebras, and L Weitkamp
J Med Genet 1981; 18: 134-138. doi:10.1136/jmg.18.2.134 [Abstract] [PDF] [Request Permissions]

Monozygotic twins discordant for exstrophy of the urinary bladder.
M Bugge
J Med Genet 1981; 18: 139-141. doi:10.1136/jmg.18.2.139 [Abstract] [PDF] [Request Permissions]

Inherited abnormalities of collagen.
F M Pope
J Med Genet 1981; 18: 142-143. doi:10.1136/jmg.18.2.142 [PDF] [Request Permissions]

Partial trisomy 12q.
B Zabel and W Baumann
J Med Genet 1981; 18: 144-146. doi:10.1136/jmg.18.2.144 [Abstract] [PDF] [Request Permissions]

Prenatal diagnosis for adenosine deaminase deficiency.
J B Ziegler, M B Van der Weyden, C H Lee, and A Daniel
J Med Genet 1981; 18: 154-156. doi:10.1136/jmg.18.2.154 [Abstract] [PDF] [Request Permissions]

Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia.
D J Harris, R M Thompson, B Wolf, and B I Yang
J Med Genet 1981; 18: 156-157. doi:10.1136/jmg.18.2.156 [Abstract] [PDF] [Request Permissions]

Birth frequency of bilateral renal agenesis.
C O Carter and K Evans
J Med Genet 1981; 18: 158. doi:10.1136/jmg.18.2.158 [PDF] [Request Permissions]

Familial partial 14 trisomy.
K Willson, J Q Miller, W Wilson, and G Schott
J Med Genet 1981; 18: 158-159. doi:10.1136/jmg.18.2.158-a [PDF] [Request Permissions]

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	Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures Robin M Winter, Dian Donnai, and Martin d'A Crawfurd J Med Genet 1981; 18: 129-133. doi:10.1136/jmg.18.2.129 [Abstract] [PDF] [Request Permissions]

	Correction J Med Genet 1981; 18: 159. doi:10.1136/jmg.18.2.159 [PDF] [Request Permissions]

	The Management of Genetic Disorders Peter S Harper J Med Genet 1981; 18: 160. doi:10.1136/jmg.18.2.160 [PDF] [Request Permissions]

	Principles of Gene Manipulation. An Introduction to Genetic Engineering Derek Wood J Med Genet 1981; 18: 160. doi:10.1136/jmg.18.2.160-a [PDF] [Request Permissions]

	A case of trisomy of chromosome 15 S Coldwell, B Fitzgerald, J M Semmens, R Ede, and C Bateman J Med Genet 1981; 18: 146-148. doi:10.1136/jmg.18.2.146 [Abstract] [PDF] [Request Permissions]

	Congenital dislocation of the knees in a child with Down-mosaic Turner syndrome A R Gatrad J Med Genet 1981; 18: 148-151. doi:10.1136/jmg.18.2.148 [Abstract] [PDF] [Request Permissions]

	A new probably autosomal recessive cardiomelic dysplasia with mesoaxial hexadactyly R Martínez Y Martínez, E Corona-Rivera, M Jiménez-Martínez, R Ocampo-Campos, S García-Maravilla, and J M Cantú J Med Genet 1981; 18: 151-154. doi:10.1136/jmg.18.2.151 [Abstract] [PDF] [Request Permissions]

	A family study of protracted diarrhoea in infancy. F M Howard, C O Carter, D C Candy, and J T Harries J Med Genet 1981; 18: 81-86. doi:10.1136/jmg.18.2.81 [Abstract] [PDF] [Request Permissions]

	Children of those treated surgically for Hirschsprung's disease. C O Carter, K Evans, and V Hickman J Med Genet 1981; 18: 87-90. doi:10.1136/jmg.18.2.87 [Abstract] [PDF] [Request Permissions]

	Evaluation of information-guidance genetic counselling. A Czeizel, J Métneki, and M Osztovics J Med Genet 1981; 18: 91-98. doi:10.1136/jmg.18.2.91 [Abstract] [PDF] [Request Permissions]

	Confirmation of the multifactorial threshold model for congenital structural talipes equinovarus. A Czeizel, A Bellyei, J Kránicz, L Mocsai, and G Tusnády J Med Genet 1981; 18: 99-100. doi:10.1136/jmg.18.2.99 [Abstract] [PDF] [Request Permissions]

	Neuronal ceroid lipofuscinosis and arthropathy: a family study. R Proops and S H Green J Med Genet 1981; 18: 101-104. doi:10.1136/jmg.18.2.101 [Abstract] [PDF] [Request Permissions]

	Congenital hydrocephalus in two pregnancies following the birth of a child with a neural tube defect: aetiology and management. R D Robertson, D A Sarti, W J Brown, and B F Crandall J Med Genet 1981; 18: 105-107. doi:10.1136/jmg.18.2.105 [Abstract] [PDF] [Request Permissions]

	The aetiology of the cat eye syndrome reconsidered. G Guanti J Med Genet 1981; 18: 108-118. doi:10.1136/jmg.18.2.108 [Abstract] [PDF] [Request Permissions]

	Familial chromosome translocation t(3;18)(p21;p11). G Buchinger, A Wettstein, and H Metze J Med Genet 1981; 18: 119-123. doi:10.1136/jmg.18.2.119 [Abstract] [PDF] [Request Permissions]

	Familial dentinogenesis imperfecta, blue sclerae, and wormian bones without fractures: another type of osteogenesis imperfecta? P Beighton J Med Genet 1981; 18: 124-128. doi:10.1136/jmg.18.2.124 [Abstract] [PDF] [Request Permissions]

	Coincidence of neurofibromatosis and myotonic dystrophy in a kindred. K Ichikawa, C J Crosley, A Culebras, and L Weitkamp J Med Genet 1981; 18: 134-138. doi:10.1136/jmg.18.2.134 [Abstract] [PDF] [Request Permissions]

	Monozygotic twins discordant for exstrophy of the urinary bladder. M Bugge J Med Genet 1981; 18: 139-141. doi:10.1136/jmg.18.2.139 [Abstract] [PDF] [Request Permissions]

	Inherited abnormalities of collagen. F M Pope J Med Genet 1981; 18: 142-143. doi:10.1136/jmg.18.2.142 [PDF] [Request Permissions]

	Partial trisomy 12q. B Zabel and W Baumann J Med Genet 1981; 18: 144-146. doi:10.1136/jmg.18.2.144 [Abstract] [PDF] [Request Permissions]

	Prenatal diagnosis for adenosine deaminase deficiency. J B Ziegler, M B Van der Weyden, C H Lee, and A Daniel J Med Genet 1981; 18: 154-156. doi:10.1136/jmg.18.2.154 [Abstract] [PDF] [Request Permissions]

	Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia. D J Harris, R M Thompson, B Wolf, and B I Yang J Med Genet 1981; 18: 156-157. doi:10.1136/jmg.18.2.156 [Abstract] [PDF] [Request Permissions]

	Birth frequency of bilateral renal agenesis. C O Carter and K Evans J Med Genet 1981; 18: 158. doi:10.1136/jmg.18.2.158 [PDF] [Request Permissions]

	Familial partial 14 trisomy. K Willson, J Q Miller, W Wilson, and G Schott J Med Genet 1981; 18: 158-159. doi:10.1136/jmg.18.2.158-a [PDF] [Request Permissions]