J Med Genet -- Table of Contents (27 [9])

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September 1990 (Volume 27, Number 9). [Index by author]

		Book Reviews Conference Report Letters to the Editor Research Article

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Book Reviews

Genetic Risks. A Reference for Eye Care Practitioners
Marcelle Jay
J Med Genet 1990; 27: 599. doi:10.1136/jmg.27.9.599 [PDF] [Request Permissions]

Genes IV
Andrew P Read
J Med Genet 1990; 27: 599. doi:10.1136/jmg.27.9.599-a [PDF] [Request Permissions]

Molecular Biology of the Islets of Langerhans
Alan Rees
J Med Genet 1990; 27: 599-600. doi:10.1136/jmg.27.9.599-b [PDF] [Request Permissions]

Conference Report

Symposium on genomic imprinting, Manchester
Angus Clarke
J Med Genet 1990; 27: 595-596. doi:10.1136/jmg.27.9.595 [PDF] [Request Permissions]

Letters to the Editor

Families with X linked liver glycogenosis owing to phosphorylase kinase deficiency
Patrick Willems
J Med Genet 1990; 27: 598. doi:10.1136/jmg.27.9.598-a [PDF] [Request Permissions]

Research Article

Genes and epilepsy.
R M Gardiner
J Med Genet 1990; 27: 537-544. doi:10.1136/jmg.27.9.537 [PDF] [Request Permissions]

The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro alpha 1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues.
W G Cole, P E Campbell, J G Rogers, and J F Bateman
J Med Genet 1990; 27: 545-551. doi:10.1136/jmg.27.9.545 [Abstract] [PDF] [Request Permissions]

Adult polycystic kidney disease: knowledge, experience, and attitudes to prenatal diagnosis.
K A Hodgkinson, L Kerzin-Storrar, E A Watters, and R Harris
J Med Genet 1990; 27: 552-558. doi:10.1136/jmg.27.9.552 [Abstract] [PDF] [Request Permissions]

Genetic and environmental factors in hypospadias.
C Stoll, Y Alembik, M P Roth, and B Dott
J Med Genet 1990; 27: 559-563. doi:10.1136/jmg.27.9.559 [Abstract] [PDF] [Request Permissions]

Genetic analysis of treated and untreated phenylketonuria in one family.
L A Tyfield, A L Meredith, M J Osborn, R Primavesi, T L Chambers, J B Holton, and P S Harper
J Med Genet 1990; 27: 564-568. doi:10.1136/jmg.27.9.564 [Abstract] [PDF] [Request Permissions]

Repeated freezing and thawing of peripheral blood and DNA in suspension: effects on DNA yield and integrity.
K S Ross, N E Haites, and K F Kelly
J Med Genet 1990; 27: 569-570. doi:10.1136/jmg.27.9.569 [Abstract] [PDF] [Request Permissions]

Sotos syndrome.
T R Cole and H E Hughes
J Med Genet 1990; 27: 571-576. doi:10.1136/jmg.27.9.571 [PDF] [Request Permissions]

Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male.
M P Harvey, A Kearney, A Smith, and R J Trent
J Med Genet 1990; 27: 577-581. doi:10.1136/jmg.27.9.577 [Abstract] [PDF] [Request Permissions]

Chromosome imbalance, normal phenotype, and imprinting.
L Bortotto, E Piovan, R Furlan, H Rivera, and O Zuffardi
J Med Genet 1990; 27: 582-587. doi:10.1136/jmg.27.9.582 [Abstract] [PDF] [Request Permissions]

Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).
D R Romain, J Goldsmith, H Cairney, L M Columbano-Green, R H Smythe, and R G Parfitt
J Med Genet 1990; 27: 588-589. doi:10.1136/jmg.27.9.588 [Abstract] [PDF] [Request Permissions]

Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction.
S J Charles, A T Moore, J R Yates, T Green, and P Clark
J Med Genet 1990; 27: 590-592. doi:10.1136/jmg.27.9.590 [Abstract] [PDF] [Request Permissions]

Another case of microcephaly, facial clefting, and preaxial polydactyly.
S L Marles and A E Chudley
J Med Genet 1990; 27: 593-594. doi:10.1136/jmg.27.9.593 [Abstract] [PDF] [Request Permissions]

Dominantly inherited cleft lip and palate.
J T Hecht
J Med Genet 1990; 27: 597. doi:10.1136/jmg.27.9.597 [PDF] [Request Permissions]

Deletion Xp22.3.
I K Temple and N R Dennis
J Med Genet 1990; 27: 598. doi:10.1136/jmg.27.9.598 [PDF] [Request Permissions]

Medical genetics in Romania.
M Covic, G Benga, M Bembea, C Maximilian, and D Stefanescu
J Med Genet 1990; 27: 598. doi:10.1136/jmg.27.9.598-b [PDF] [Request Permissions]

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	Genetic Risks. A Reference for Eye Care Practitioners Marcelle Jay J Med Genet 1990; 27: 599. doi:10.1136/jmg.27.9.599 [PDF] [Request Permissions]

	Genes IV Andrew P Read J Med Genet 1990; 27: 599. doi:10.1136/jmg.27.9.599-a [PDF] [Request Permissions]

	Molecular Biology of the Islets of Langerhans Alan Rees J Med Genet 1990; 27: 599-600. doi:10.1136/jmg.27.9.599-b [PDF] [Request Permissions]

	Symposium on genomic imprinting, Manchester Angus Clarke J Med Genet 1990; 27: 595-596. doi:10.1136/jmg.27.9.595 [PDF] [Request Permissions]

	Families with X linked liver glycogenosis owing to phosphorylase kinase deficiency Patrick Willems J Med Genet 1990; 27: 598. doi:10.1136/jmg.27.9.598-a [PDF] [Request Permissions]

	Genes and epilepsy. R M Gardiner J Med Genet 1990; 27: 537-544. doi:10.1136/jmg.27.9.537 [PDF] [Request Permissions]

	The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro alpha 1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues. W G Cole, P E Campbell, J G Rogers, and J F Bateman J Med Genet 1990; 27: 545-551. doi:10.1136/jmg.27.9.545 [Abstract] [PDF] [Request Permissions]

	Adult polycystic kidney disease: knowledge, experience, and attitudes to prenatal diagnosis. K A Hodgkinson, L Kerzin-Storrar, E A Watters, and R Harris J Med Genet 1990; 27: 552-558. doi:10.1136/jmg.27.9.552 [Abstract] [PDF] [Request Permissions]

	Genetic and environmental factors in hypospadias. C Stoll, Y Alembik, M P Roth, and B Dott J Med Genet 1990; 27: 559-563. doi:10.1136/jmg.27.9.559 [Abstract] [PDF] [Request Permissions]

	Genetic analysis of treated and untreated phenylketonuria in one family. L A Tyfield, A L Meredith, M J Osborn, R Primavesi, T L Chambers, J B Holton, and P S Harper J Med Genet 1990; 27: 564-568. doi:10.1136/jmg.27.9.564 [Abstract] [PDF] [Request Permissions]

	Repeated freezing and thawing of peripheral blood and DNA in suspension: effects on DNA yield and integrity. K S Ross, N E Haites, and K F Kelly J Med Genet 1990; 27: 569-570. doi:10.1136/jmg.27.9.569 [Abstract] [PDF] [Request Permissions]

	Sotos syndrome. T R Cole and H E Hughes J Med Genet 1990; 27: 571-576. doi:10.1136/jmg.27.9.571 [PDF] [Request Permissions]

	Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male. M P Harvey, A Kearney, A Smith, and R J Trent J Med Genet 1990; 27: 577-581. doi:10.1136/jmg.27.9.577 [Abstract] [PDF] [Request Permissions]

	Chromosome imbalance, normal phenotype, and imprinting. L Bortotto, E Piovan, R Furlan, H Rivera, and O Zuffardi J Med Genet 1990; 27: 582-587. doi:10.1136/jmg.27.9.582 [Abstract] [PDF] [Request Permissions]

	Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter). D R Romain, J Goldsmith, H Cairney, L M Columbano-Green, R H Smythe, and R G Parfitt J Med Genet 1990; 27: 588-589. doi:10.1136/jmg.27.9.588 [Abstract] [PDF] [Request Permissions]

	Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction. S J Charles, A T Moore, J R Yates, T Green, and P Clark J Med Genet 1990; 27: 590-592. doi:10.1136/jmg.27.9.590 [Abstract] [PDF] [Request Permissions]

	Another case of microcephaly, facial clefting, and preaxial polydactyly. S L Marles and A E Chudley J Med Genet 1990; 27: 593-594. doi:10.1136/jmg.27.9.593 [Abstract] [PDF] [Request Permissions]

	Dominantly inherited cleft lip and palate. J T Hecht J Med Genet 1990; 27: 597. doi:10.1136/jmg.27.9.597 [PDF] [Request Permissions]

	Deletion Xp22.3. I K Temple and N R Dennis J Med Genet 1990; 27: 598. doi:10.1136/jmg.27.9.598 [PDF] [Request Permissions]

	Medical genetics in Romania. M Covic, G Benga, M Bembea, C Maximilian, and D Stefanescu J Med Genet 1990; 27: 598. doi:10.1136/jmg.27.9.598-b [PDF] [Request Permissions]