J Med Genet -- Table of Contents (27 [5])

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May 1990 (Volume 27, Number 5). [Index by author]

		Miscellaneous Book Reviews Letter to the Editor Research Article

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Miscellaneous

Correction
J Med Genet 1990; 27: 344. doi:10.1136/jmg.27.5.344-a [PDF] [Request Permissions]

Book Reviews

Genetic Engineering 7
S Malcolm
J Med Genet 1990; 27: 341. doi:10.1136/jmg.27.5.341-a [PDF] [Request Permissions]

Molecular Biology of the Eye: Genes, Vision, and Ocular Disease
Alan Wright
J Med Genet 1990; 27: 341-342. doi:10.1136/jmg.27.5.341-b [PDF] [Request Permissions]

Human Immunogenetics. Basic Principles and Clinical Relevance
T Strachan
J Med Genet 1990; 27: 342. doi:10.1136/jmg.27.5.342 [PDF] [Request Permissions]

Human Chromosomes—Manual of Basic Techniques
Tony Andrews
J Med Genet 1990; 27: 342. doi:10.1136/jmg.27.5.342-a [PDF] [Request Permissions]

The Selfish Gene
Alan Emery
J Med Genet 1990; 27: 342-343. doi:10.1136/jmg.27.5.342-b [PDF] [Request Permissions]

Biochemical Genetics: A Laboratory Manual
John Holton
J Med Genet 1990; 27: 343. doi:10.1136/jmg.27.5.343 [PDF] [Request Permissions]

Human Gene Mapping 10
John R W Yates
J Med Genet 1990; 27: 343. doi:10.1136/jmg.27.5.343-a [PDF] [Request Permissions]

Genetic Variants and Strains of the Laboratory Mouse
Robin Winter
J Med Genet 1990; 27: 343-344. doi:10.1136/jmg.27.5.343-b [PDF] [Request Permissions]

Medical Genetics—An Illustrated Outline
D C Siggers
J Med Genet 1990; 27: 344. doi:10.1136/jmg.27.5.344 [PDF] [Request Permissions]

Letter to the Editor

Hypohidrotic ectodermal dysplasia with hypothyroidism
Michael Baraitser and Michael Pike
J Med Genet 1990; 27: 341. doi:10.1136/jmg.27.5.341 [PDF] [Request Permissions]

Research Article

A linkage study of a large pedigree with X linked centronuclear myopathy.
J Starr, M Lamont, L Iselius, J Harvey, and J Heckmatt
J Med Genet 1990; 27: 281-283. doi:10.1136/jmg.27.5.281 [Abstract] [PDF] [Request Permissions]

X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci.
N S Thomas, H Williams, G Cole, K Roberts, A Clarke, S Liechti-Gallati, S Braga, A Gerber, C Meier, and H Moser
J Med Genet 1990; 27: 284-287. doi:10.1136/jmg.27.5.284 [Abstract] [PDF] [Request Permissions]

X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.
A E Lehesjoki, E M Sankila, J Miao, M Somer, R Salonen, J Rapola, and A de la Chapelle
J Med Genet 1990; 27: 288-291. doi:10.1136/jmg.27.5.288 [Abstract] [PDF] [Request Permissions]

Analysis of Scottish Duchenne and Becker muscular dystrophy families with dystrophin cDNA probes.
A Cooke, W G Lanyon, D E Wilcox, E S Dornan, A Kataki, E F Gillard, A J McWhinnie, A Morris, M A Ferguson-Smith, and J M Connor
J Med Genet 1990; 27: 292-297. doi:10.1136/jmg.27.5.292 [Abstract] [PDF] [Request Permissions]

An exon 4 mutation identified in the majority of South African familial hypercholesterolaemics.
M J Kotze, L Warnich, E Langenhoven, L du Plessis, and A E Retief
J Med Genet 1990; 27: 298-302. doi:10.1136/jmg.27.5.298 [Abstract] [PDF] [Request Permissions]

A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigations.
L Hasholt, S A Sørensen, A Wandall, E B Andersen, and P Arlien-Søborg
J Med Genet 1990; 27: 303-306. doi:10.1136/jmg.27.5.303 [Abstract] [PDF] [Request Permissions]

Segregation analysis of peripheral neurofibromatosis (NF1).
M Littler and N E Morton
J Med Genet 1990; 27: 307-310. doi:10.1136/jmg.27.5.307 [Abstract] [PDF] [Request Permissions]

Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma.
E R Maher, J R Yates, and M A Ferguson-Smith
J Med Genet 1990; 27: 311-314. doi:10.1136/jmg.27.5.311 [Abstract] [PDF] [Request Permissions]

Restrictive dermopathy: a report of three cases.
Q Mok, R Curley, J L Tolmie, R A Marsden, M A Patton, and E G Davies
J Med Genet 1990; 27: 315-319. doi:10.1136/jmg.27.5.315 [Abstract] [PDF] [Request Permissions]

Popliteal pterygium syndrome.
U G Froster-Iskenius
J Med Genet 1990; 27: 320-326. doi:10.1136/jmg.27.5.320 [PDF] [Request Permissions]

Partial monosomy 8p with minimal dysmorphic signs.
E Blennow and K Bröndum-Nielsen
J Med Genet 1990; 27: 327-329. doi:10.1136/jmg.27.5.327 [Abstract] [PDF] [Request Permissions]

Branchial dysplasia, mental deficiency, club feet, and inguinal herniae: a report of two further cases associated with paucity of interlobular bile ducts.
J C Lambert, M C Saint-Paul, F Bastiani, V Paquis, and A M Saunieres
J Med Genet 1990; 27: 330-332. doi:10.1136/jmg.27.5.330 [Abstract] [PDF] [Request Permissions]

The Coffin-Siris syndrome.
Q H Qazi, L S Heckman, D Markouizos, and R S Verma
J Med Genet 1990; 27: 333-336. doi:10.1136/jmg.27.5.333 [Abstract] [PDF] [Request Permissions]

Median clefting of the upper lip associated with cutaneous polyps.
W Reardon, B Jones, and M Baraitser
J Med Genet 1990; 27: 337-338. doi:10.1136/jmg.27.5.337 [Abstract] [PDF] [Request Permissions]

Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia.
M E Porteous and J Burn
J Med Genet 1990; 27: 339-340. doi:10.1136/jmg.27.5.339 [Abstract] [PDF] [Request Permissions]

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	Correction J Med Genet 1990; 27: 344. doi:10.1136/jmg.27.5.344-a [PDF] [Request Permissions]

	Genetic Engineering 7 S Malcolm J Med Genet 1990; 27: 341. doi:10.1136/jmg.27.5.341-a [PDF] [Request Permissions]

	Molecular Biology of the Eye: Genes, Vision, and Ocular Disease Alan Wright J Med Genet 1990; 27: 341-342. doi:10.1136/jmg.27.5.341-b [PDF] [Request Permissions]

	Human Immunogenetics. Basic Principles and Clinical Relevance T Strachan J Med Genet 1990; 27: 342. doi:10.1136/jmg.27.5.342 [PDF] [Request Permissions]

	Human Chromosomes—Manual of Basic Techniques Tony Andrews J Med Genet 1990; 27: 342. doi:10.1136/jmg.27.5.342-a [PDF] [Request Permissions]

	The Selfish Gene Alan Emery J Med Genet 1990; 27: 342-343. doi:10.1136/jmg.27.5.342-b [PDF] [Request Permissions]

	Biochemical Genetics: A Laboratory Manual John Holton J Med Genet 1990; 27: 343. doi:10.1136/jmg.27.5.343 [PDF] [Request Permissions]

	Human Gene Mapping 10 John R W Yates J Med Genet 1990; 27: 343. doi:10.1136/jmg.27.5.343-a [PDF] [Request Permissions]

	Genetic Variants and Strains of the Laboratory Mouse Robin Winter J Med Genet 1990; 27: 343-344. doi:10.1136/jmg.27.5.343-b [PDF] [Request Permissions]

	Medical Genetics—An Illustrated Outline D C Siggers J Med Genet 1990; 27: 344. doi:10.1136/jmg.27.5.344 [PDF] [Request Permissions]

	Hypohidrotic ectodermal dysplasia with hypothyroidism Michael Baraitser and Michael Pike J Med Genet 1990; 27: 341. doi:10.1136/jmg.27.5.341 [PDF] [Request Permissions]

	A linkage study of a large pedigree with X linked centronuclear myopathy. J Starr, M Lamont, L Iselius, J Harvey, and J Heckmatt J Med Genet 1990; 27: 281-283. doi:10.1136/jmg.27.5.281 [Abstract] [PDF] [Request Permissions]

	X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci. N S Thomas, H Williams, G Cole, K Roberts, A Clarke, S Liechti-Gallati, S Braga, A Gerber, C Meier, and H Moser J Med Genet 1990; 27: 284-287. doi:10.1136/jmg.27.5.284 [Abstract] [PDF] [Request Permissions]

	X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28. A E Lehesjoki, E M Sankila, J Miao, M Somer, R Salonen, J Rapola, and A de la Chapelle J Med Genet 1990; 27: 288-291. doi:10.1136/jmg.27.5.288 [Abstract] [PDF] [Request Permissions]

	Analysis of Scottish Duchenne and Becker muscular dystrophy families with dystrophin cDNA probes. A Cooke, W G Lanyon, D E Wilcox, E S Dornan, A Kataki, E F Gillard, A J McWhinnie, A Morris, M A Ferguson-Smith, and J M Connor J Med Genet 1990; 27: 292-297. doi:10.1136/jmg.27.5.292 [Abstract] [PDF] [Request Permissions]

	An exon 4 mutation identified in the majority of South African familial hypercholesterolaemics. M J Kotze, L Warnich, E Langenhoven, L du Plessis, and A E Retief J Med Genet 1990; 27: 298-302. doi:10.1136/jmg.27.5.298 [Abstract] [PDF] [Request Permissions]

	A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigations. L Hasholt, S A Sørensen, A Wandall, E B Andersen, and P Arlien-Søborg J Med Genet 1990; 27: 303-306. doi:10.1136/jmg.27.5.303 [Abstract] [PDF] [Request Permissions]

	Segregation analysis of peripheral neurofibromatosis (NF1). M Littler and N E Morton J Med Genet 1990; 27: 307-310. doi:10.1136/jmg.27.5.307 [Abstract] [PDF] [Request Permissions]

	Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma. E R Maher, J R Yates, and M A Ferguson-Smith J Med Genet 1990; 27: 311-314. doi:10.1136/jmg.27.5.311 [Abstract] [PDF] [Request Permissions]

	Restrictive dermopathy: a report of three cases. Q Mok, R Curley, J L Tolmie, R A Marsden, M A Patton, and E G Davies J Med Genet 1990; 27: 315-319. doi:10.1136/jmg.27.5.315 [Abstract] [PDF] [Request Permissions]

	Popliteal pterygium syndrome. U G Froster-Iskenius J Med Genet 1990; 27: 320-326. doi:10.1136/jmg.27.5.320 [PDF] [Request Permissions]

	Partial monosomy 8p with minimal dysmorphic signs. E Blennow and K Bröndum-Nielsen J Med Genet 1990; 27: 327-329. doi:10.1136/jmg.27.5.327 [Abstract] [PDF] [Request Permissions]

	Branchial dysplasia, mental deficiency, club feet, and inguinal herniae: a report of two further cases associated with paucity of interlobular bile ducts. J C Lambert, M C Saint-Paul, F Bastiani, V Paquis, and A M Saunieres J Med Genet 1990; 27: 330-332. doi:10.1136/jmg.27.5.330 [Abstract] [PDF] [Request Permissions]

	The Coffin-Siris syndrome. Q H Qazi, L S Heckman, D Markouizos, and R S Verma J Med Genet 1990; 27: 333-336. doi:10.1136/jmg.27.5.333 [Abstract] [PDF] [Request Permissions]

	Median clefting of the upper lip associated with cutaneous polyps. W Reardon, B Jones, and M Baraitser J Med Genet 1990; 27: 337-338. doi:10.1136/jmg.27.5.337 [Abstract] [PDF] [Request Permissions]

	Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia. M E Porteous and J Burn J Med Genet 1990; 27: 339-340. doi:10.1136/jmg.27.5.339 [Abstract] [PDF] [Request Permissions]