J Med Genet -- Table of Contents (27 [8])

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August 1990 (Volume 27, Number 8). [Index by author]

		Articles Articles Book Reviews Letters to the Editor Research Article

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Articles

On the variable effect of mosaic normal/balanced chromosomal rearrangements in man
A Kleczkowska, J P Fryns, and H Van den Berghe
J Med Genet 1990; 27: 505-507. doi:10.1136/jmg.27.8.505 [Abstract] [PDF] [Request Permissions]

Book Reviews

Royal College of Physicians Report on Prenatal Diagnosis and Genetic Screening
Rodney Harris
J Med Genet 1990; 27: 535-536. doi:10.1136/jmg.27.8.535 [PDF] [Request Permissions]

PCR Technology: Principles and Applications for DNA Amplification
Jennifer Lynch
J Med Genet 1990; 27: 536. doi:10.1136/jmg.27.8.536 [PDF] [Request Permissions]

Letters to the Editor

Letters to the Editor
Jane Hurst and Caroline Berry
J Med Genet 1990; 27: 533. doi:10.1136/jmg.27.8.533-a [PDF] [Request Permissions]

Research Article

Genetics services in the community.
P S Harper
J Med Genet 1990; 27: 473-474. doi:10.1136/jmg.27.8.473 [PDF] [Request Permissions]

Cystic fibrosis screening and community genetics.
B Modell
J Med Genet 1990; 27: 475-479. doi:10.1136/jmg.27.8.475 [PDF] [Request Permissions]

Genetics of congenital nemaline myopathy: a study of 10 families.
C Wallgren-Pettersson, H Kääriäinen, J Rapola, T Salmi, J Jääskeläinen, and M Donner
J Med Genet 1990; 27: 480-487. doi:10.1136/jmg.27.8.480 [Abstract] [PDF] [Request Permissions]

Exclusion testing in pregnancy for Huntington's disease.
A Tyler, O W Quarrell, L P Lazarou, A L Meredith, and P S Harper
J Med Genet 1990; 27: 488-495. doi:10.1136/jmg.27.8.488 [Abstract] [PDF] [Request Permissions]

Linkage studies and deletion screening in choroideremia.
A F Wright, R L Nussbaum, S S Bhattacharya, M Jay, J G Lesko, H J Evans, and B Jay
J Med Genet 1990; 27: 496-498. doi:10.1136/jmg.27.8.496 [Abstract] [PDF] [Request Permissions]

Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis.
M B Viana, R Giugliani, V H Leite, M L Barth, C Lekhwani, C M Slade, and A Fensom
J Med Genet 1990; 27: 499-504. doi:10.1136/jmg.27.8.499 [Abstract] [PDF] [Request Permissions]

Health visitors' awareness and perception of clinical genetic services.
P Guilbert and F Cheater
J Med Genet 1990; 27: 508-511. doi:10.1136/jmg.27.8.508 [Abstract] [PDF] [Request Permissions]

Dyggve-Melchior-Clausen syndrome.
P Beighton
J Med Genet 1990; 27: 512-515. doi:10.1136/jmg.27.8.512 [PDF] [Request Permissions]

How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case.
L Turolla, M Clementi, and R Tenconi
J Med Genet 1990; 27: 516-518. doi:10.1136/jmg.27.8.516 [Abstract] [PDF] [Request Permissions]

Autosomal recessive epidermolytic palmoplantar keratoderma.
Q A Alsaleh and A S Teebi
J Med Genet 1990; 27: 519-522. doi:10.1136/jmg.27.8.519 [Abstract] [PDF] [Request Permissions]

Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.
E K Pivnick, M B Qumsiyeh, A T Tharapel, J B Summitt, and R S Wilroy
J Med Genet 1990; 27: 523-526. doi:10.1136/jmg.27.8.523 [Abstract] [PDF] [Request Permissions]

A new apparently folate sensitive fragile site, 5q35.
R T Howell, A McDermott, and J L Evans
J Med Genet 1990; 27: 527-528. doi:10.1136/jmg.27.8.527 [PDF] [Request Permissions]

Conference on gene therapy, Royal College of Physicians, London, 1 March 1990.
S Hodgson
J Med Genet 1990; 27: 529-531. doi:10.1136/jmg.27.8.529 [PDF] [Request Permissions]

Pachygyria, joint contractures, and facial abnormalities: a new lethal syndrome.
M Tsukahara, Y Sugio, T Kajii, M Takahashi, M Hirota, and H Kato
J Med Genet 1990; 27: 532. doi:10.1136/jmg.27.8.532 [PDF] [Request Permissions]

The CHARGE association.
M G Bialer and W T Brown
J Med Genet 1990; 27: 533. doi:10.1136/jmg.27.8.533 [PDF] [Request Permissions]

The Moebius syndrome: aetiology, incidence of mental retardation, and genetics.
T Lipson, W Webster, and D D Weaver
J Med Genet 1990; 27: 533-535. doi:10.1136/jmg.27.8.533-b [PDF] [Request Permissions]

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	On the variable effect of mosaic normal/balanced chromosomal rearrangements in man A Kleczkowska, J P Fryns, and H Van den Berghe J Med Genet 1990; 27: 505-507. doi:10.1136/jmg.27.8.505 [Abstract] [PDF] [Request Permissions]

	Royal College of Physicians Report on Prenatal Diagnosis and Genetic Screening Rodney Harris J Med Genet 1990; 27: 535-536. doi:10.1136/jmg.27.8.535 [PDF] [Request Permissions]

	PCR Technology: Principles and Applications for DNA Amplification Jennifer Lynch J Med Genet 1990; 27: 536. doi:10.1136/jmg.27.8.536 [PDF] [Request Permissions]

	Letters to the Editor Jane Hurst and Caroline Berry J Med Genet 1990; 27: 533. doi:10.1136/jmg.27.8.533-a [PDF] [Request Permissions]

	Genetics services in the community. P S Harper J Med Genet 1990; 27: 473-474. doi:10.1136/jmg.27.8.473 [PDF] [Request Permissions]

	Cystic fibrosis screening and community genetics. B Modell J Med Genet 1990; 27: 475-479. doi:10.1136/jmg.27.8.475 [PDF] [Request Permissions]

	Genetics of congenital nemaline myopathy: a study of 10 families. C Wallgren-Pettersson, H Kääriäinen, J Rapola, T Salmi, J Jääskeläinen, and M Donner J Med Genet 1990; 27: 480-487. doi:10.1136/jmg.27.8.480 [Abstract] [PDF] [Request Permissions]

	Exclusion testing in pregnancy for Huntington's disease. A Tyler, O W Quarrell, L P Lazarou, A L Meredith, and P S Harper J Med Genet 1990; 27: 488-495. doi:10.1136/jmg.27.8.488 [Abstract] [PDF] [Request Permissions]

	Linkage studies and deletion screening in choroideremia. A F Wright, R L Nussbaum, S S Bhattacharya, M Jay, J G Lesko, H J Evans, and B Jay J Med Genet 1990; 27: 496-498. doi:10.1136/jmg.27.8.496 [Abstract] [PDF] [Request Permissions]

	Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis. M B Viana, R Giugliani, V H Leite, M L Barth, C Lekhwani, C M Slade, and A Fensom J Med Genet 1990; 27: 499-504. doi:10.1136/jmg.27.8.499 [Abstract] [PDF] [Request Permissions]

	Health visitors' awareness and perception of clinical genetic services. P Guilbert and F Cheater J Med Genet 1990; 27: 508-511. doi:10.1136/jmg.27.8.508 [Abstract] [PDF] [Request Permissions]

	Dyggve-Melchior-Clausen syndrome. P Beighton J Med Genet 1990; 27: 512-515. doi:10.1136/jmg.27.8.512 [PDF] [Request Permissions]

	How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case. L Turolla, M Clementi, and R Tenconi J Med Genet 1990; 27: 516-518. doi:10.1136/jmg.27.8.516 [Abstract] [PDF] [Request Permissions]

	Autosomal recessive epidermolytic palmoplantar keratoderma. Q A Alsaleh and A S Teebi J Med Genet 1990; 27: 519-522. doi:10.1136/jmg.27.8.519 [Abstract] [PDF] [Request Permissions]

	Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome. E K Pivnick, M B Qumsiyeh, A T Tharapel, J B Summitt, and R S Wilroy J Med Genet 1990; 27: 523-526. doi:10.1136/jmg.27.8.523 [Abstract] [PDF] [Request Permissions]

	A new apparently folate sensitive fragile site, 5q35. R T Howell, A McDermott, and J L Evans J Med Genet 1990; 27: 527-528. doi:10.1136/jmg.27.8.527 [PDF] [Request Permissions]

	Conference on gene therapy, Royal College of Physicians, London, 1 March 1990. S Hodgson J Med Genet 1990; 27: 529-531. doi:10.1136/jmg.27.8.529 [PDF] [Request Permissions]

	Pachygyria, joint contractures, and facial abnormalities: a new lethal syndrome. M Tsukahara, Y Sugio, T Kajii, M Takahashi, M Hirota, and H Kato J Med Genet 1990; 27: 532. doi:10.1136/jmg.27.8.532 [PDF] [Request Permissions]

	The CHARGE association. M G Bialer and W T Brown J Med Genet 1990; 27: 533. doi:10.1136/jmg.27.8.533 [PDF] [Request Permissions]

	The Moebius syndrome: aetiology, incidence of mental retardation, and genetics. T Lipson, W Webster, and D D Weaver J Med Genet 1990; 27: 533-535. doi:10.1136/jmg.27.8.533-b [PDF] [Request Permissions]