J Med Genet -- Table of Contents (16 [2])

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April 1979 (Volume 16, Number 2). [Index by author]

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Articles

Genetic and environmental variation in serum lipoproteins in relation to coronary heart disease
Forbes W. Robertson and Alastair M. Cumming
J Med Genet 1979; 16: 85-100. doi:10.1136/jmg.16.2.85 [Abstract] [PDF] [Request Permissions]

Research Article

Genetic heterogeneity in osteogenesis imperfecta.
D O Sillence, A Senn, and D M Danks
J Med Genet 1979; 16: 101-116. doi:10.1136/jmg.16.2.101 [Abstract] [PDF] [Request Permissions]

Serum creatine kinase levels in pubertal, mature, pregnant, and postmenopausal women.
S Bundey, J M Crawley, J H Edwards, and R A Westhead
J Med Genet 1979; 16: 117-121. doi:10.1136/jmg.16.2.117 [Abstract] [PDF] [Request Permissions]

Cystic fibrosis in Northern Ireland.
G B Nevin, N C Nevin, and A O Redmond
J Med Genet 1979; 16: 122-124. doi:10.1136/jmg.16.2.122 [Abstract] [PDF] [Request Permissions]

A presumptive new variant of Norrie's disease.
C A Moreira-Filho and I Neustein
J Med Genet 1979; 16: 125-128. doi:10.1136/jmg.16.2.125 [Abstract] [PDF] [Request Permissions]

The sex ratio in anencephaly.
W H James
J Med Genet 1979; 16: 129-133. doi:10.1136/jmg.16.2.129 [Abstract] [PDF] [Request Permissions]

Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase.
J M Lamon, B C Frykholm, and D P Tschudy
J Med Genet 1979; 16: 134-139. doi:10.1136/jmg.16.2.134 [Abstract] [PDF] [Request Permissions]

Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine.
F Oberklaid, D M Danks, F Jensen, L Stace, and S Rosshandler
J Med Genet 1979; 16: 140-146. doi:10.1136/jmg.16.2.140 [Abstract] [PDF] [Request Permissions]

Paternal age effect in fibrodysplasia ossificans progressiva.
J G Rogers and G A Chase
J Med Genet 1979; 16: 147-148. doi:10.1136/jmg.16.2.147 [Abstract] [PDF] [Request Permissions]

Camptodactyly, cleft palate, and club foot (the Gordon syndrome). A report of a large pedigree.
F Halal and F C Fraser
J Med Genet 1979; 16: 149-150. doi:10.1136/jmg.16.2.149 [Abstract] [PDF] [Request Permissions]

Two cases with different deletions of the long arm of chromosome 7.
J M Klep-de Pater, J B Bijlsma, E M Bleeker-Wagemakers, H F de France, and C M de Vries-Ekkers
J Med Genet 1979; 16: 151-154. doi:10.1136/jmg.16.2.151 [Abstract] [PDF] [Request Permissions]

Trisomy 13 and extended survival.
J M Cowen, S Walker, and F Harris
J Med Genet 1979; 16: 155-157. doi:10.1136/jmg.16.2.155 [Abstract] [PDF] [Request Permissions]

Anencephaly with diaphragmatic hernia in sibs.
T J David, V M Parker, and C A Illingworth
J Med Genet 1979; 16: 157-159. doi:10.1136/jmg.16.2.157 [Abstract] [PDF] [Request Permissions]

Symphalangism, short stature, skeletal anomalies, and accessory testis: a new malformation syndrome.
R Theodor, M Hertz, and R M Goodman
J Med Genet 1979; 16: 159-160. doi:10.1136/jmg.16.2.159 [Abstract] [PDF] [Request Permissions]

Gastric adenocarcinoma due to ataxia-telangiectasia (Louis-Bar syndrome).
M A Frais
J Med Genet 1979; 16: 160-161. doi:10.1136/jmg.16.2.160 [Abstract] [PDF] [Request Permissions]

Covesdem syndrome.
R S Wadia
J Med Genet 1979; 16: 162. doi:10.1136/jmg.16.2.162 [PDF] [Request Permissions]

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	Genetic and environmental variation in serum lipoproteins in relation to coronary heart disease Forbes W. Robertson and Alastair M. Cumming J Med Genet 1979; 16: 85-100. doi:10.1136/jmg.16.2.85 [Abstract] [PDF] [Request Permissions]

	Genetic heterogeneity in osteogenesis imperfecta. D O Sillence, A Senn, and D M Danks J Med Genet 1979; 16: 101-116. doi:10.1136/jmg.16.2.101 [Abstract] [PDF] [Request Permissions]

	Serum creatine kinase levels in pubertal, mature, pregnant, and postmenopausal women. S Bundey, J M Crawley, J H Edwards, and R A Westhead J Med Genet 1979; 16: 117-121. doi:10.1136/jmg.16.2.117 [Abstract] [PDF] [Request Permissions]

	Cystic fibrosis in Northern Ireland. G B Nevin, N C Nevin, and A O Redmond J Med Genet 1979; 16: 122-124. doi:10.1136/jmg.16.2.122 [Abstract] [PDF] [Request Permissions]

	A presumptive new variant of Norrie's disease. C A Moreira-Filho and I Neustein J Med Genet 1979; 16: 125-128. doi:10.1136/jmg.16.2.125 [Abstract] [PDF] [Request Permissions]

	The sex ratio in anencephaly. W H James J Med Genet 1979; 16: 129-133. doi:10.1136/jmg.16.2.129 [Abstract] [PDF] [Request Permissions]

	Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase. J M Lamon, B C Frykholm, and D P Tschudy J Med Genet 1979; 16: 134-139. doi:10.1136/jmg.16.2.134 [Abstract] [PDF] [Request Permissions]

	Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine. F Oberklaid, D M Danks, F Jensen, L Stace, and S Rosshandler J Med Genet 1979; 16: 140-146. doi:10.1136/jmg.16.2.140 [Abstract] [PDF] [Request Permissions]

	Paternal age effect in fibrodysplasia ossificans progressiva. J G Rogers and G A Chase J Med Genet 1979; 16: 147-148. doi:10.1136/jmg.16.2.147 [Abstract] [PDF] [Request Permissions]

	Camptodactyly, cleft palate, and club foot (the Gordon syndrome). A report of a large pedigree. F Halal and F C Fraser J Med Genet 1979; 16: 149-150. doi:10.1136/jmg.16.2.149 [Abstract] [PDF] [Request Permissions]

	Two cases with different deletions of the long arm of chromosome 7. J M Klep-de Pater, J B Bijlsma, E M Bleeker-Wagemakers, H F de France, and C M de Vries-Ekkers J Med Genet 1979; 16: 151-154. doi:10.1136/jmg.16.2.151 [Abstract] [PDF] [Request Permissions]

	Trisomy 13 and extended survival. J M Cowen, S Walker, and F Harris J Med Genet 1979; 16: 155-157. doi:10.1136/jmg.16.2.155 [Abstract] [PDF] [Request Permissions]

	Anencephaly with diaphragmatic hernia in sibs. T J David, V M Parker, and C A Illingworth J Med Genet 1979; 16: 157-159. doi:10.1136/jmg.16.2.157 [Abstract] [PDF] [Request Permissions]

	Symphalangism, short stature, skeletal anomalies, and accessory testis: a new malformation syndrome. R Theodor, M Hertz, and R M Goodman J Med Genet 1979; 16: 159-160. doi:10.1136/jmg.16.2.159 [Abstract] [PDF] [Request Permissions]

	Gastric adenocarcinoma due to ataxia-telangiectasia (Louis-Bar syndrome). M A Frais J Med Genet 1979; 16: 160-161. doi:10.1136/jmg.16.2.160 [Abstract] [PDF] [Request Permissions]

	Covesdem syndrome. R S Wadia J Med Genet 1979; 16: 162. doi:10.1136/jmg.16.2.162 [PDF] [Request Permissions]