J Med Genet -- Table of Contents (19 [1])

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February 1982 (Volume 19, Number 1). [Index by author]

		Articles Correspondence Articles Case Reports Research Article

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Articles

Genetic counselling in haemophilia by discriminant analysis 1975-1980
Emily S Barrow, Connie H Miller, Howard M Reisner, and John B Graham
J Med Genet 1982; 19: 26-34. doi:10.1136/jmg.19.1.26 [Abstract] [PDF] [Request Permissions]

A new camptodactyly syndrome
M Baraitser
J Med Genet 1982; 19: 40-43. doi:10.1136/jmg.19.1.40 [Abstract] [PDF] [Request Permissions]

Clinical Genetics Society. Abstracts of scientific papers presented on 9 and 10 April 1981 at the University of Sheffield
J Med Genet 1982; 19: 63-67. doi:10.1136/jmg.19.1.63 [PDF] [Request Permissions]

Correspondence

The Martin-Bell-Renpenning syndrome
B W Richards and Tessa Webb
J Med Genet 1982; 19: 79. doi:10.1136/jmg.19.1.79 [PDF] [Request Permissions]

Case Reports

A malformed baby with two separate de novo translocations
W E Chewings, T P Cocks, R J M Gardner, and J E Clarkson
J Med Genet 1982; 19: 70-71. doi:10.1136/jmg.19.1.70 [Abstract] [PDF] [Request Permissions]

Chronic renal disease, myotonic dystrophy, and gonadoblastoma in XY gonadal dysgenesis
Joe Leigh Simpson, Raju S K Chaganti, Janet Mouradian, and James German
J Med Genet 1982; 19: 73-76. doi:10.1136/jmg.19.1.73 [Abstract] [PDF] [Request Permissions]

Research Article

Feasibility of neonatal screening for Duchenne muscular dystrophy.
R Skinner, A E Emery, G Scheuerbrandt, and J Syme
J Med Genet 1982; 19: 1-3. doi:10.1136/jmg.19.1.1 [Abstract] [PDF] [Request Permissions]

Effect of exercise on serum creatine kinase in carriers of Duchenne muscular dystrophy.
R F Gaines, S M Pueschel, E A Sassaman, and J L Driscoll
J Med Genet 1982; 19: 4-7. doi:10.1136/jmg.19.1.4 [Abstract] [PDF] [Request Permissions]

An epidemiological and genetic study of facial clefting in France. I. Epidemiology and frequency in relatives.
C Bonaiti, M L Briard, J Feingold, B Pavy, J Psaume, G Migne-Tufferaud, and J Kaplan
J Med Genet 1982; 19: 8-15. doi:10.1136/jmg.19.1.8 [Abstract] [PDF] [Request Permissions]

Survivors of neuroblastoma and ganglioneuroma and their families.
S Bundey and K Evans
J Med Genet 1982; 19: 16-21. doi:10.1136/jmg.19.1.16 [Abstract] [PDF] [Request Permissions]

Apnoea following suxamethonium: the genetic study of four generations of a family.
A A Morgan
J Med Genet 1982; 19: 22-25. doi:10.1136/jmg.19.1.22 [Abstract] [PDF] [Request Permissions]

Genetic aspects of fibrodysplasia ossificans progressiva.
J M Connor and D A Evans
J Med Genet 1982; 19: 35-39. doi:10.1136/jmg.19.1.35 [Abstract] [PDF] [Request Permissions]

Fragile (X)(q27) sites in a pedigree with female carriers showing mild to severe mental retardation.
G C Webb, J L Halliday, D B Pitt, C G Judge, and M Leversha
J Med Genet 1982; 19: 44-48. doi:10.1136/jmg.19.1.44 [Abstract] [PDF] [Request Permissions]

Cytogenetic and histological studies of testicular biopsies from subfertile men with chromosome anomaly.
M J Faed, M A Lamont, and K Baxby
J Med Genet 1982; 19: 49-56. doi:10.1136/jmg.19.1.49 [Abstract] [PDF] [Request Permissions]

Chromosome distribution studies in XXY karyotypes.
M Kirsch-Volders, L Hens, H van den Berghe, B Scholberg, and C Susanne
J Med Genet 1982; 19: 57-62. doi:10.1136/jmg.19.1.57 [Abstract] [PDF] [Request Permissions]

De novo interstitial deletion in the long arm of chromosome 9: a new chromosome syndrome.
K L Ying, C J Curry, K B Rajani, S H Kassel, and R S Sparkes
J Med Genet 1982; 19: 68-70. doi:10.1136/jmg.19.1.68 [Abstract] [PDF] [Request Permissions]

A second patient with partial deletion of the short arm of chromosome 3: karyotype 46,XY,del(3)(p25).
M C Higginbottom, J T Mascarello, H Hassin, and W K McCord
J Med Genet 1982; 19: 71-73. doi:10.1136/jmg.19.1.71 [Abstract] [PDF] [Request Permissions]

A severely retarded male with deletion of chromosomes 15 (pter leads to q13) and 10 (q 26 leads to qter).
A Smith and G den Dulk
J Med Genet 1982; 19: 77. doi:10.1136/jmg.19.1.77 [PDF] [Request Permissions]

Alobar holoprosencephaly and otocephaly in a female infant with a normal karyotype and placental villitis.
A R Gaba, G J Anderson, D L VanDyke, and J L Chason
J Med Genet 1982; 19: 78. doi:10.1136/jmg.19.1.78 [PDF] [Request Permissions]

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	Genetic counselling in haemophilia by discriminant analysis 1975-1980 Emily S Barrow, Connie H Miller, Howard M Reisner, and John B Graham J Med Genet 1982; 19: 26-34. doi:10.1136/jmg.19.1.26 [Abstract] [PDF] [Request Permissions]

	A new camptodactyly syndrome M Baraitser J Med Genet 1982; 19: 40-43. doi:10.1136/jmg.19.1.40 [Abstract] [PDF] [Request Permissions]

	Clinical Genetics Society. Abstracts of scientific papers presented on 9 and 10 April 1981 at the University of Sheffield J Med Genet 1982; 19: 63-67. doi:10.1136/jmg.19.1.63 [PDF] [Request Permissions]

	The Martin-Bell-Renpenning syndrome B W Richards and Tessa Webb J Med Genet 1982; 19: 79. doi:10.1136/jmg.19.1.79 [PDF] [Request Permissions]

	A malformed baby with two separate de novo translocations W E Chewings, T P Cocks, R J M Gardner, and J E Clarkson J Med Genet 1982; 19: 70-71. doi:10.1136/jmg.19.1.70 [Abstract] [PDF] [Request Permissions]

	Chronic renal disease, myotonic dystrophy, and gonadoblastoma in XY gonadal dysgenesis Joe Leigh Simpson, Raju S K Chaganti, Janet Mouradian, and James German J Med Genet 1982; 19: 73-76. doi:10.1136/jmg.19.1.73 [Abstract] [PDF] [Request Permissions]

	Feasibility of neonatal screening for Duchenne muscular dystrophy. R Skinner, A E Emery, G Scheuerbrandt, and J Syme J Med Genet 1982; 19: 1-3. doi:10.1136/jmg.19.1.1 [Abstract] [PDF] [Request Permissions]

	Effect of exercise on serum creatine kinase in carriers of Duchenne muscular dystrophy. R F Gaines, S M Pueschel, E A Sassaman, and J L Driscoll J Med Genet 1982; 19: 4-7. doi:10.1136/jmg.19.1.4 [Abstract] [PDF] [Request Permissions]

	An epidemiological and genetic study of facial clefting in France. I. Epidemiology and frequency in relatives. C Bonaiti, M L Briard, J Feingold, B Pavy, J Psaume, G Migne-Tufferaud, and J Kaplan J Med Genet 1982; 19: 8-15. doi:10.1136/jmg.19.1.8 [Abstract] [PDF] [Request Permissions]

	Survivors of neuroblastoma and ganglioneuroma and their families. S Bundey and K Evans J Med Genet 1982; 19: 16-21. doi:10.1136/jmg.19.1.16 [Abstract] [PDF] [Request Permissions]

	Apnoea following suxamethonium: the genetic study of four generations of a family. A A Morgan J Med Genet 1982; 19: 22-25. doi:10.1136/jmg.19.1.22 [Abstract] [PDF] [Request Permissions]

	Genetic aspects of fibrodysplasia ossificans progressiva. J M Connor and D A Evans J Med Genet 1982; 19: 35-39. doi:10.1136/jmg.19.1.35 [Abstract] [PDF] [Request Permissions]

	Fragile (X)(q27) sites in a pedigree with female carriers showing mild to severe mental retardation. G C Webb, J L Halliday, D B Pitt, C G Judge, and M Leversha J Med Genet 1982; 19: 44-48. doi:10.1136/jmg.19.1.44 [Abstract] [PDF] [Request Permissions]

	Cytogenetic and histological studies of testicular biopsies from subfertile men with chromosome anomaly. M J Faed, M A Lamont, and K Baxby J Med Genet 1982; 19: 49-56. doi:10.1136/jmg.19.1.49 [Abstract] [PDF] [Request Permissions]

	Chromosome distribution studies in XXY karyotypes. M Kirsch-Volders, L Hens, H van den Berghe, B Scholberg, and C Susanne J Med Genet 1982; 19: 57-62. doi:10.1136/jmg.19.1.57 [Abstract] [PDF] [Request Permissions]

	De novo interstitial deletion in the long arm of chromosome 9: a new chromosome syndrome. K L Ying, C J Curry, K B Rajani, S H Kassel, and R S Sparkes J Med Genet 1982; 19: 68-70. doi:10.1136/jmg.19.1.68 [Abstract] [PDF] [Request Permissions]

	A second patient with partial deletion of the short arm of chromosome 3: karyotype 46,XY,del(3)(p25). M C Higginbottom, J T Mascarello, H Hassin, and W K McCord J Med Genet 1982; 19: 71-73. doi:10.1136/jmg.19.1.71 [Abstract] [PDF] [Request Permissions]

	A severely retarded male with deletion of chromosomes 15 (pter leads to q13) and 10 (q 26 leads to qter). A Smith and G den Dulk J Med Genet 1982; 19: 77. doi:10.1136/jmg.19.1.77 [PDF] [Request Permissions]

	Alobar holoprosencephaly and otocephaly in a female infant with a normal karyotype and placental villitis. A R Gaba, G J Anderson, D L VanDyke, and J L Chason J Med Genet 1982; 19: 78. doi:10.1136/jmg.19.1.78 [PDF] [Request Permissions]