J Med Genet -- Table of Contents (26 [1])

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January 1989 (Volume 26, Number 1). [Index by author]

		Book Reviews Research Article

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Book Reviews

Catalog of Chromosome Aberrations in Cancer
D G Harnden
J Med Genet 1989; 26: 72. doi:10.1136/jmg.26.1.72 [PDF] [Request Permissions]

Cancer Cytogenetics
Peter W Thompson
J Med Genet 1989; 26: 72. doi:10.1136/jmg.26.1.72-a [PDF] [Request Permissions]

Research Article

Possibilities and limitation of prenatal diagnosis and carrier determination for Duchenne and Becker muscular dystrophy using cDNA probes.
A Speer, A W Spiegler, R Hanke, K Grade, U Giertler, J Schieck, S Forrest, K E Davies, R Neumann, and R Bollmann
J Med Genet 1989; 26: 1-5. doi:10.1136/jmg.26.1.1 [Abstract] [PDF] [Request Permissions]

Alpha thalassaemia: a potential source of error in DNA linkage studies for adult polycystic kidney disease.
R J Trent and R C Wallace
J Med Genet 1989; 26: 6-9. doi:10.1136/jmg.26.1.6 [Abstract] [PDF] [Request Permissions]

21-hydroxylase deficiency families with HLA identical affected and unaffected sibs.
P J Sinnott, P A Dyer, D A Price, R Harris, and T Strachan
J Med Genet 1989; 26: 10-17. doi:10.1136/jmg.26.1.10 [Abstract] [PDF] [Request Permissions]

New mutation to Huntington's disease.
G Wolff, G Deuschl, T F Wienker, K Hummel, K Bender, C H Lücking, M Schumacher, J Hammer, and G Oepen
J Med Genet 1989; 26: 18-27. doi:10.1136/jmg.26.1.18 [Abstract] [PDF] [Request Permissions]

Genetic aspects of tuberous sclerosis in the west of Scotland.
J R Sampson, S J Scahill, J B Stephenson, L Mann, and J M Connor
J Med Genet 1989; 26: 28-31. doi:10.1136/jmg.26.1.28 [Abstract] [PDF] [Request Permissions]

The use of low density lipoprotein receptor activity of lymphocytes to determine the prevalence of familial hypercholesterolaemia in a rural South African community.
K Steyn, M J Weight, B R Dando, K J Christopher, and J E Rossouw
J Med Genet 1989; 26: 32-36. doi:10.1136/jmg.26.1.32 [Abstract] [PDF] [Request Permissions]

Congenital generalised bone dysplasias: a clinical, radiological, and epidemiological survey.
P E Andersen, Jr and M Hauge
J Med Genet 1989; 26: 37-44. doi:10.1136/jmg.26.1.37 [Abstract] [PDF] [Request Permissions]

Johanson-Blizzard syndrome.
J A Hurst and M Baraitser
J Med Genet 1989; 26: 45-48. doi:10.1136/jmg.26.1.45 [PDF] [Request Permissions]

Congenital hypothyroidism, spiky hair, and cleft palate.
J S Bamforth, I A Hughes, J H Lazarus, C M Weaver, and P S Harper
J Med Genet 1989; 26: 49-51. doi:10.1136/jmg.26.1.49 [Abstract] [PDF] [Request Permissions]

Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis: a new inherited disorder of connective tissue?
P Daish, M J Hardman, and M A Lamont
J Med Genet 1989; 26: 51-54. doi:10.1136/jmg.26.1.51 [Abstract] [PDF] [Request Permissions]

Further delineation of the Yunis-Varon syndrome.
R C Hennekam and C Vermeulen-Meiners
J Med Genet 1989; 26: 55-58. doi:10.1136/jmg.26.1.55 [Abstract] [PDF] [Request Permissions]

A case of interstitial deletion of 10q25.2----q26.1.
D E Rooney, K Williams, D V Coleman, and A Habel
J Med Genet 1989; 26: 58-60. doi:10.1136/jmg.26.1.58 [Abstract] [PDF] [Request Permissions]

Deletion of chromosome 5q and familial adenomatous polyposis.
K A Hockey, M T Mulcahy, P Montgomery, and S Levitt
J Med Genet 1989; 26: 61-62. doi:10.1136/jmg.26.1.61 [PDF] [Request Permissions]

Obesity and abnormal behaviour associated with interstitial deletion of chromosome 18 (q12.2q21.1).
G N Wilson and A A Al Saadi
J Med Genet 1989; 26: 62-63. doi:10.1136/jmg.26.1.62 [PDF] [Request Permissions]

Partial trisomy 16q secondary to a maternal 9;16 translocation.
M L Lessick, J Israel, P W Wong, and K Szego
J Med Genet 1989; 26: 63-64. doi:10.1136/jmg.26.1.63 [PDF] [Request Permissions]

Duplication 6p and deletion 9p.
C Lytle, J Wade, A Farrier, F Flohrschutz, 3rd, B Hecht, and J Allanson
J Med Genet 1989; 26: 64-66. doi:10.1136/jmg.26.1.64 [PDF] [Request Permissions]

The megacystis-microcolon-intestinal hypoperistalsis syndrome: a fatal autosomal recessive condition.
D G Penman and R J Lilford
J Med Genet 1989; 26: 66-67. doi:10.1136/jmg.26.1.66 [Abstract] [PDF] [Request Permissions]

Apple peel syndrome in sibs.
T I Farag and A S Teebi
J Med Genet 1989; 26: 67-68. doi:10.1136/jmg.26.1.67 [Abstract] [PDF] [Request Permissions]

Iris coloboma, ptosis, hypertelorism, and mental retardation.
B D Hall
J Med Genet 1989; 26: 69. doi:10.1136/jmg.26.1.69 [PDF] [Request Permissions]

Teratogenicity of ergotamine.
A Czeizel
J Med Genet 1989; 26: 69-70. doi:10.1136/jmg.26.1.69-a [PDF] [Request Permissions]

18p- syndrome with partial sacral agenesis.
S Anderson-Shotwell and W G Wilson
J Med Genet 1989; 26: 70-71. doi:10.1136/jmg.26.1.70 [PDF] [Request Permissions]

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	Catalog of Chromosome Aberrations in Cancer D G Harnden J Med Genet 1989; 26: 72. doi:10.1136/jmg.26.1.72 [PDF] [Request Permissions]

	Cancer Cytogenetics Peter W Thompson J Med Genet 1989; 26: 72. doi:10.1136/jmg.26.1.72-a [PDF] [Request Permissions]

	Possibilities and limitation of prenatal diagnosis and carrier determination for Duchenne and Becker muscular dystrophy using cDNA probes. A Speer, A W Spiegler, R Hanke, K Grade, U Giertler, J Schieck, S Forrest, K E Davies, R Neumann, and R Bollmann J Med Genet 1989; 26: 1-5. doi:10.1136/jmg.26.1.1 [Abstract] [PDF] [Request Permissions]

	Alpha thalassaemia: a potential source of error in DNA linkage studies for adult polycystic kidney disease. R J Trent and R C Wallace J Med Genet 1989; 26: 6-9. doi:10.1136/jmg.26.1.6 [Abstract] [PDF] [Request Permissions]

	21-hydroxylase deficiency families with HLA identical affected and unaffected sibs. P J Sinnott, P A Dyer, D A Price, R Harris, and T Strachan J Med Genet 1989; 26: 10-17. doi:10.1136/jmg.26.1.10 [Abstract] [PDF] [Request Permissions]

	New mutation to Huntington's disease. G Wolff, G Deuschl, T F Wienker, K Hummel, K Bender, C H Lücking, M Schumacher, J Hammer, and G Oepen J Med Genet 1989; 26: 18-27. doi:10.1136/jmg.26.1.18 [Abstract] [PDF] [Request Permissions]

	Genetic aspects of tuberous sclerosis in the west of Scotland. J R Sampson, S J Scahill, J B Stephenson, L Mann, and J M Connor J Med Genet 1989; 26: 28-31. doi:10.1136/jmg.26.1.28 [Abstract] [PDF] [Request Permissions]

	The use of low density lipoprotein receptor activity of lymphocytes to determine the prevalence of familial hypercholesterolaemia in a rural South African community. K Steyn, M J Weight, B R Dando, K J Christopher, and J E Rossouw J Med Genet 1989; 26: 32-36. doi:10.1136/jmg.26.1.32 [Abstract] [PDF] [Request Permissions]

	Congenital generalised bone dysplasias: a clinical, radiological, and epidemiological survey. P E Andersen, Jr and M Hauge J Med Genet 1989; 26: 37-44. doi:10.1136/jmg.26.1.37 [Abstract] [PDF] [Request Permissions]

	Johanson-Blizzard syndrome. J A Hurst and M Baraitser J Med Genet 1989; 26: 45-48. doi:10.1136/jmg.26.1.45 [PDF] [Request Permissions]

	Congenital hypothyroidism, spiky hair, and cleft palate. J S Bamforth, I A Hughes, J H Lazarus, C M Weaver, and P S Harper J Med Genet 1989; 26: 49-51. doi:10.1136/jmg.26.1.49 [Abstract] [PDF] [Request Permissions]

	Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis: a new inherited disorder of connective tissue? P Daish, M J Hardman, and M A Lamont J Med Genet 1989; 26: 51-54. doi:10.1136/jmg.26.1.51 [Abstract] [PDF] [Request Permissions]

	Further delineation of the Yunis-Varon syndrome. R C Hennekam and C Vermeulen-Meiners J Med Genet 1989; 26: 55-58. doi:10.1136/jmg.26.1.55 [Abstract] [PDF] [Request Permissions]

	A case of interstitial deletion of 10q25.2----q26.1. D E Rooney, K Williams, D V Coleman, and A Habel J Med Genet 1989; 26: 58-60. doi:10.1136/jmg.26.1.58 [Abstract] [PDF] [Request Permissions]

	Deletion of chromosome 5q and familial adenomatous polyposis. K A Hockey, M T Mulcahy, P Montgomery, and S Levitt J Med Genet 1989; 26: 61-62. doi:10.1136/jmg.26.1.61 [PDF] [Request Permissions]

	Obesity and abnormal behaviour associated with interstitial deletion of chromosome 18 (q12.2q21.1). G N Wilson and A A Al Saadi J Med Genet 1989; 26: 62-63. doi:10.1136/jmg.26.1.62 [PDF] [Request Permissions]

	Partial trisomy 16q secondary to a maternal 9;16 translocation. M L Lessick, J Israel, P W Wong, and K Szego J Med Genet 1989; 26: 63-64. doi:10.1136/jmg.26.1.63 [PDF] [Request Permissions]

	Duplication 6p and deletion 9p. C Lytle, J Wade, A Farrier, F Flohrschutz, 3rd, B Hecht, and J Allanson J Med Genet 1989; 26: 64-66. doi:10.1136/jmg.26.1.64 [PDF] [Request Permissions]

	The megacystis-microcolon-intestinal hypoperistalsis syndrome: a fatal autosomal recessive condition. D G Penman and R J Lilford J Med Genet 1989; 26: 66-67. doi:10.1136/jmg.26.1.66 [Abstract] [PDF] [Request Permissions]

	Apple peel syndrome in sibs. T I Farag and A S Teebi J Med Genet 1989; 26: 67-68. doi:10.1136/jmg.26.1.67 [Abstract] [PDF] [Request Permissions]

	Iris coloboma, ptosis, hypertelorism, and mental retardation. B D Hall J Med Genet 1989; 26: 69. doi:10.1136/jmg.26.1.69 [PDF] [Request Permissions]

	Teratogenicity of ergotamine. A Czeizel J Med Genet 1989; 26: 69-70. doi:10.1136/jmg.26.1.69-a [PDF] [Request Permissions]

	18p- syndrome with partial sacral agenesis. S Anderson-Shotwell and W G Wilson J Med Genet 1989; 26: 70-71. doi:10.1136/jmg.26.1.70 [PDF] [Request Permissions]