J Med Genet -- Table of Contents (12 [1])

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March 1975 (Volume 12, Number 1). [Index by author]

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Articles

SI Units
J Med Genet 1975; 12: 118-120. doi:10.1136/jmg.12.1.118 [PDF] [Request Permissions]

Book Reviews

Selected Screening Tests for Genetic Metabolic Diseases
D. N. Raine
J Med Genet 1975; 12: 116. doi:10.1136/jmg.12.1.116 [PDF] [Request Permissions]

Personality Differences and Biological Variations. A Study of Twins
D. W. K. Kay
J Med Genet 1975; 12: 116-117. doi:10.1136/jmg.12.1.116-a [PDF] [Request Permissions]

Huntington's Chorea, 1872-1972
David L. Stevens
J Med Genet 1975; 12: 117. doi:10.1136/jmg.12.1.117 [PDF] [Request Permissions]

Research Article

Oesophageal atresia in the South West of England.
T J David and S E O'Callaghan
J Med Genet 1975; 12: 1-11. doi:10.1136/jmg.12.1.1 [Abstract] [PDF] [Request Permissions]

A genetic study of torsion dystonia.
S Bundey, M J Harrison, and C D Marsden
J Med Genet 1975; 12: 12-19. doi:10.1136/jmg.12.1.12 [Abstract] [PDF] [Request Permissions]

Clinical and ultrastructural observations in a kindred with normo-hyperkalaemic periodic paralysis.
T S Danowski, E R Fisher, C Vidalon, J W Vester, R Thompson, S Nolan, T Stephan, and J H Sunder
J Med Genet 1975; 12: 20-28. doi:10.1136/jmg.12.1.20 [Abstract] [PDF] [Request Permissions]

Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.
R H Lindenbaum and M Bobrow
J Med Genet 1975; 12: 29-43. doi:10.1136/jmg.12.1.29 [Abstract] [PDF] [Request Permissions]

Giemsa banding of chromosome 1gh+ and linkage analysis.
P N Howard, G R Stoddard, M W Goddard, and J R Seely
J Med Genet 1975; 12: 44-48. doi:10.1136/jmg.12.1.44 [Abstract] [PDF] [Request Permissions]

Distinction between Duchenne and other muscular dystrophies by ribosomal protein synthesis.
V Ionasescu
J Med Genet 1975; 12: 49-54. doi:10.1136/jmg.12.1.49 [Abstract] [PDF] [Request Permissions]

Thalassaemia in northern Liberia. A survey in the Mount Nimba area.
M C Willcox
J Med Genet 1975; 12: 55-63. doi:10.1136/jmg.12.1.55 [Abstract] [PDF] [Request Permissions]

Estimation of the age at onset of Huntington's disease from factors associated with the affected parent.
C J Brackenridge and B Teltscher
J Med Genet 1975; 12: 64-69. doi:10.1136/jmg.12.1.64 [Abstract] [PDF] [Request Permissions]

The occurrence of gonadal dysgenesis in association with monozygotic twinning.
L Karp, J I Bryant, G Tagatz, E Giblett, and P J Fialkow
J Med Genet 1975; 12: 70-78. doi:10.1136/jmg.12.1.70 [Abstract] [PDF] [Request Permissions]

A family study of coeliac disease.
T J David and A B Ajdukiewicz
J Med Genet 1975; 12: 79-82. doi:10.1136/jmg.12.1.79 [Abstract] [PDF] [Request Permissions]

Haemoglobin Lepore Boston and elliptocytosis in a family of Indonesian-German ancestry.
L N Went, W W de Jong, and S E Bos
J Med Genet 1975; 12: 83-88. doi:10.1136/jmg.12.1.83 [Abstract] [PDF] [Request Permissions]

Aglossia-adactylia syndrome.
N C Nevin, D Burrows, G Allen, and D C Kernohan
J Med Genet 1975; 12: 89-93. doi:10.1136/jmg.12.1.89 [Abstract] [PDF] [Request Permissions]

A family with apparently sex-linked optic atrophy.
L N Went, E C De Vries-De Mol, and H J Völker-Dieben
J Med Genet 1975; 12: 94-98. doi:10.1136/jmg.12.1.94 [Abstract] [PDF] [Request Permissions]

Deletion of the short arm of chromosome No. 10.
M H Shokeir, M Ray, J L Hamerton, F Bauder, and H O'Brien
J Med Genet 1975; 12: 99-103. doi:10.1136/jmg.12.1.99 [Abstract] [PDF] [Request Permissions]

Trisomy 13 and Rubinstein-Taybi syndrome.
F P Garcia, L Y Hsu, H Fox, and D Gribetz
J Med Genet 1975; 12: 104-105. doi:10.1136/jmg.12.1.104 [Abstract] [PDF] [Request Permissions]

Partial 12p deletion: a cause for a mental retardation, multiple congenital abnormality syndrome.
N C Magnelli and E Therman
J Med Genet 1975; 12: 105-108. doi:10.1136/jmg.12.1.105 [Abstract] [PDF] [Request Permissions]

Prenatal diagnosis of a neural tube defect: Meckel syndrome.
M J Seller
J Med Genet 1975; 12: 109-110. doi:10.1136/jmg.12.1.109 [Abstract] [PDF] [Request Permissions]

A case of hyalinosis cutis et mucosae (lipoid proteinosis of Urbach and Wiethe) with common ancestors in four remote generations.
R C Juberg, P R Winder, and L L Turk
J Med Genet 1975; 12: 110-112. doi:10.1136/jmg.12.1.110 [Abstract] [PDF] [Request Permissions]

Neonatal testicular torsion in two brothers.
E E Castilla, R Sod, O Anzorena, and J Texido
J Med Genet 1975; 12: 112-113. doi:10.1136/jmg.12.1.112 [Abstract] [PDF] [Request Permissions]

Letter: Klinefelter's syndrome and maternal XX/XXX mosaicism.
M T Tsuang, J R Miller, and L E De Bault
J Med Genet 1975; 12: 114. doi:10.1136/jmg.12.1.114 [PDF] [Request Permissions]

Letter: Hirschsprung's disease and congenital deafness.
R B Lowry
J Med Genet 1975; 12: 114-115. doi:10.1136/jmg.12.1.114-a [PDF] [Request Permissions]

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	SI Units J Med Genet 1975; 12: 118-120. doi:10.1136/jmg.12.1.118 [PDF] [Request Permissions]

	Selected Screening Tests for Genetic Metabolic Diseases D. N. Raine J Med Genet 1975; 12: 116. doi:10.1136/jmg.12.1.116 [PDF] [Request Permissions]

	Personality Differences and Biological Variations. A Study of Twins D. W. K. Kay J Med Genet 1975; 12: 116-117. doi:10.1136/jmg.12.1.116-a [PDF] [Request Permissions]

	Huntington's Chorea, 1872-1972 David L. Stevens J Med Genet 1975; 12: 117. doi:10.1136/jmg.12.1.117 [PDF] [Request Permissions]

	Oesophageal atresia in the South West of England. T J David and S E O'Callaghan J Med Genet 1975; 12: 1-11. doi:10.1136/jmg.12.1.1 [Abstract] [PDF] [Request Permissions]

	A genetic study of torsion dystonia. S Bundey, M J Harrison, and C D Marsden J Med Genet 1975; 12: 12-19. doi:10.1136/jmg.12.1.12 [Abstract] [PDF] [Request Permissions]

	Clinical and ultrastructural observations in a kindred with normo-hyperkalaemic periodic paralysis. T S Danowski, E R Fisher, C Vidalon, J W Vester, R Thompson, S Nolan, T Stephan, and J H Sunder J Med Genet 1975; 12: 20-28. doi:10.1136/jmg.12.1.20 [Abstract] [PDF] [Request Permissions]

	Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring. R H Lindenbaum and M Bobrow J Med Genet 1975; 12: 29-43. doi:10.1136/jmg.12.1.29 [Abstract] [PDF] [Request Permissions]

	Giemsa banding of chromosome 1gh+ and linkage analysis. P N Howard, G R Stoddard, M W Goddard, and J R Seely J Med Genet 1975; 12: 44-48. doi:10.1136/jmg.12.1.44 [Abstract] [PDF] [Request Permissions]

	Distinction between Duchenne and other muscular dystrophies by ribosomal protein synthesis. V Ionasescu J Med Genet 1975; 12: 49-54. doi:10.1136/jmg.12.1.49 [Abstract] [PDF] [Request Permissions]

	Thalassaemia in northern Liberia. A survey in the Mount Nimba area. M C Willcox J Med Genet 1975; 12: 55-63. doi:10.1136/jmg.12.1.55 [Abstract] [PDF] [Request Permissions]

	Estimation of the age at onset of Huntington's disease from factors associated with the affected parent. C J Brackenridge and B Teltscher J Med Genet 1975; 12: 64-69. doi:10.1136/jmg.12.1.64 [Abstract] [PDF] [Request Permissions]

	The occurrence of gonadal dysgenesis in association with monozygotic twinning. L Karp, J I Bryant, G Tagatz, E Giblett, and P J Fialkow J Med Genet 1975; 12: 70-78. doi:10.1136/jmg.12.1.70 [Abstract] [PDF] [Request Permissions]

	A family study of coeliac disease. T J David and A B Ajdukiewicz J Med Genet 1975; 12: 79-82. doi:10.1136/jmg.12.1.79 [Abstract] [PDF] [Request Permissions]

	Haemoglobin Lepore Boston and elliptocytosis in a family of Indonesian-German ancestry. L N Went, W W de Jong, and S E Bos J Med Genet 1975; 12: 83-88. doi:10.1136/jmg.12.1.83 [Abstract] [PDF] [Request Permissions]

	Aglossia-adactylia syndrome. N C Nevin, D Burrows, G Allen, and D C Kernohan J Med Genet 1975; 12: 89-93. doi:10.1136/jmg.12.1.89 [Abstract] [PDF] [Request Permissions]

	A family with apparently sex-linked optic atrophy. L N Went, E C De Vries-De Mol, and H J Völker-Dieben J Med Genet 1975; 12: 94-98. doi:10.1136/jmg.12.1.94 [Abstract] [PDF] [Request Permissions]

	Deletion of the short arm of chromosome No. 10. M H Shokeir, M Ray, J L Hamerton, F Bauder, and H O'Brien J Med Genet 1975; 12: 99-103. doi:10.1136/jmg.12.1.99 [Abstract] [PDF] [Request Permissions]

	Trisomy 13 and Rubinstein-Taybi syndrome. F P Garcia, L Y Hsu, H Fox, and D Gribetz J Med Genet 1975; 12: 104-105. doi:10.1136/jmg.12.1.104 [Abstract] [PDF] [Request Permissions]

	Partial 12p deletion: a cause for a mental retardation, multiple congenital abnormality syndrome. N C Magnelli and E Therman J Med Genet 1975; 12: 105-108. doi:10.1136/jmg.12.1.105 [Abstract] [PDF] [Request Permissions]

	Prenatal diagnosis of a neural tube defect: Meckel syndrome. M J Seller J Med Genet 1975; 12: 109-110. doi:10.1136/jmg.12.1.109 [Abstract] [PDF] [Request Permissions]

	A case of hyalinosis cutis et mucosae (lipoid proteinosis of Urbach and Wiethe) with common ancestors in four remote generations. R C Juberg, P R Winder, and L L Turk J Med Genet 1975; 12: 110-112. doi:10.1136/jmg.12.1.110 [Abstract] [PDF] [Request Permissions]

	Neonatal testicular torsion in two brothers. E E Castilla, R Sod, O Anzorena, and J Texido J Med Genet 1975; 12: 112-113. doi:10.1136/jmg.12.1.112 [Abstract] [PDF] [Request Permissions]

	Letter: Klinefelter's syndrome and maternal XX/XXX mosaicism. M T Tsuang, J R Miller, and L E De Bault J Med Genet 1975; 12: 114. doi:10.1136/jmg.12.1.114 [PDF] [Request Permissions]

	Letter: Hirschsprung's disease and congenital deafness. R B Lowry J Med Genet 1975; 12: 114-115. doi:10.1136/jmg.12.1.114-a [PDF] [Request Permissions]