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July 1997 (Volume 34, Number 7). [Index by author]

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Abstracts

Medical genetics: advances in brief
Angela Barnicoat
J Med Genet 1997; 34: 613. doi:10.1136/jmg.34.7.613 [PDF] [Request Permissions]

Medical genetics: advances in brief: Familial intracranial aneurysms
Angela Barnicoat
J Med Genet 1997; 34: 613. doi:10.1136/jmg.34.7.613-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Incidence of insulin-dependent diabetes mellitus among Sardinia-heritage children born in Lazio region, Italy
Angela Barnicoat
J Med Genet 1997; 34: 613. doi:10.1136/jmg.34.7.613-b [PDF] [Request Permissions]

Book Reviews

Emery and Rimoin's Principles and Practice of Medical Genetics
C G Woods
J Med Genet 1997; 34: 614. doi:10.1136/jmg.34.7.614-a [PDF] [Request Permissions]

London Dysmorphology Database and London Neurogenetics Database with Photo Library
Andrew Green
J Med Genet 1997; 34: 614-615. doi:10.1136/jmg.34.7.614-b [PDF] [Request Permissions]

Molecular Biology of Cancer
Diana M Eccles
J Med Genet 1997; 34: 615. doi:10.1136/jmg.34.7.615 [PDF] [Request Permissions]

Research Article

A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28.
G S Pai, B Hane, M Joseph, R Nelson, L S Hammond, J F Arena, H A Lubs, R E Stevenson, and C E Schwartz
J Med Genet 1997; 34: 529-534. doi:10.1136/jmg.34.7.529 [Abstract] [PDF] [Request Permissions]

Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.
L Strain, A F Wright, and D T Bonthron
J Med Genet 1997; 34: 535-540. doi:10.1136/jmg.34.7.535 [Abstract] [PDF] [Request Permissions]

Congenital renal tubular dysplasia and skull ossification defects similar to teratogenic effects of angiotensin converting enzyme (ACE) inhibitors.
D Kumar, G Moss, R Primhak, and R Coombs
J Med Genet 1997; 34: 541-545. doi:10.1136/jmg.34.7.541 [Abstract] [PDF] [Request Permissions]

Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy.
A P Brézin, A Béchetoille, P Hamard, F Valtot, M Berkani, A Belmouden, M F Adam, S Dupont de Dinechin, J F Bach, and H J Garchon
J Med Genet 1997; 34: 546-552. doi:10.1136/jmg.34.7.546 [Abstract] [PDF] [Request Permissions]

The effects of genotype and infant weight on adult plasma levels of fibrinogen, factor VII, and LDL cholesterol are additive.
J A Henry, M Bolla, C Osmond, C Fall, D J Barker, and S E Humphries
J Med Genet 1997; 34: 553-558. doi:10.1136/jmg.34.7.553 [Abstract] [PDF] [Request Permissions]

Progressive pseudorheumatoid dysplasia: report of a family and review.
H E el-Shanti, H Z Omari, and H I Qubain
J Med Genet 1997; 34: 559-563. doi:10.1136/jmg.34.7.559 [Abstract] [PDF] [Request Permissions]

Intelligence indices in people with a high/low risk for developing Huntington's disease.
G M de Boo, A Tibben, J B Lanser, A Jennekens-Schinkel, J Hermans, M Vegter-van der Vlis, and R A Roos
J Med Genet 1997; 34: 564-568. doi:10.1136/jmg.34.7.564 [Abstract] [PDF] [Request Permissions]

Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.
S G Kant, A Van Haeringen, E Bakker, I Stec, D Donnai, P Mollevanger, G C Beverstock, M C Lindeman-Kusse, and G J Van Ommen
J Med Genet 1997; 34: 569-572. doi:10.1136/jmg.34.7.569 [Abstract] [PDF] [Request Permissions]

Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population.
A N Akarsu, U Saatci, S Ozen, A Bakkaloglu, N Besbas, and M Sarfarazi
J Med Genet 1997; 34: 573-578. doi:10.1136/jmg.34.7.573 [Abstract] [PDF] [Request Permissions]

Four frameshift mutations in neurofibromatosis type 1 caused by small insertions.
S D Colman, C R Abernathy, V T Ho, and M R Wallace
J Med Genet 1997; 34: 579-581. doi:10.1136/jmg.34.7.579 [Abstract] [PDF] [Request Permissions]

Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).
B D Coppin and I K Temple
J Med Genet 1997; 34: 582-586. doi:10.1136/jmg.34.7.582 [Abstract] [PDF] [Request Permissions]

A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes.
M Ariza, V Alvarez, R Marín, S Aguado, C López-Larrea, J Alvarez, M J Menéndez, and E Coto
J Med Genet 1997; 34: 587-589. doi:10.1136/jmg.34.7.587 [Abstract] [PDF] [Request Permissions]

Identification of a recombination event narrowing the Lafora disease gene region.
L O Maddox, M Descartes, J Collins, J Keating, S Rosenfeld, C Palmer, A J Carroll, and R Kuzniecky
J Med Genet 1997; 34: 590-591. doi:10.1136/jmg.34.7.590 [Abstract] [PDF] [Request Permissions]

The 12 base pair duplication/insertion alteration could be a regulatory mutation.
M Robledo, A Osorio, C Sentís, J Albertos, L Estevez, and J Benítez
J Med Genet 1997; 34: 592-593. doi:10.1136/jmg.34.7.592 [Abstract] [PDF] [Request Permissions]

Phosphoserine phosphatase deficiency in a patient with Williams syndrome.
J Jaeken, M Detheux, J P Fryns, J F Collet, P Alliet, and E Van Schaftingen
J Med Genet 1997; 34: 594-596. doi:10.1136/jmg.34.7.594 [Abstract] [PDF] [Request Permissions]

A case of apparent trisomy 21 without the Down's syndrome phenotype.
D Avramopoulos, I Kennerknecht, G Barbi, D Eckert, J M Delabar, C Maunoury, A Hallberg, and M B Petersen
J Med Genet 1997; 34: 597-600. doi:10.1136/jmg.34.7.597 [Abstract] [PDF] [Request Permissions]

Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree.
S J Mitchell, T Cole, and D H Redford
J Med Genet 1997; 34: 601-603. doi:10.1136/jmg.34.7.601 [Abstract] [PDF] [Request Permissions]

A case of Lenz microphthalmia syndrome.
F F Ozkinay, C Ozkinay, H Yüksel, A Yenigun, G Sapmaz, and O Aksu
J Med Genet 1997; 34: 604-606. doi:10.1136/jmg.34.7.604 [Abstract] [PDF] [Request Permissions]

The mitochondrial A3243G mutation presenting as severe cardiomyopathy.
L Vilarinho, F M Santorelli, M J Rosas, C Tavares, M Melo-Pires, and S DiMauro
J Med Genet 1997; 34: 607-609. doi:10.1136/jmg.34.7.607 [Abstract] [PDF] [Request Permissions]

A report of a child with a deletion (9)(q34.3): a recognisable phenotype?
H Ayyash, R Mueller, E Maltby, P Horsfield, N Telford, and R Tyler
J Med Genet 1997; 34: 610-612. doi:10.1136/jmg.34.7.610 [Abstract] [PDF] [Request Permissions]

Marfan syndrome.
A De Paepe and R C Hennekam
J Med Genet 1997; 34: 614. doi:10.1136/jmg.34.7.614 [PDF] [Request Permissions]

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	Medical genetics: advances in brief Angela Barnicoat J Med Genet 1997; 34: 613. doi:10.1136/jmg.34.7.613 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Familial intracranial aneurysms Angela Barnicoat J Med Genet 1997; 34: 613. doi:10.1136/jmg.34.7.613-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Incidence of insulin-dependent diabetes mellitus among Sardinia-heritage children born in Lazio region, Italy Angela Barnicoat J Med Genet 1997; 34: 613. doi:10.1136/jmg.34.7.613-b [PDF] [Request Permissions]

	Emery and Rimoin's Principles and Practice of Medical Genetics C G Woods J Med Genet 1997; 34: 614. doi:10.1136/jmg.34.7.614-a [PDF] [Request Permissions]

	London Dysmorphology Database and London Neurogenetics Database with Photo Library Andrew Green J Med Genet 1997; 34: 614-615. doi:10.1136/jmg.34.7.614-b [PDF] [Request Permissions]

	Molecular Biology of Cancer Diana M Eccles J Med Genet 1997; 34: 615. doi:10.1136/jmg.34.7.615 [PDF] [Request Permissions]

	A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28. G S Pai, B Hane, M Joseph, R Nelson, L S Hammond, J F Arena, H A Lubs, R E Stevenson, and C E Schwartz J Med Genet 1997; 34: 529-534. doi:10.1136/jmg.34.7.529 [Abstract] [PDF] [Request Permissions]

	Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22. L Strain, A F Wright, and D T Bonthron J Med Genet 1997; 34: 535-540. doi:10.1136/jmg.34.7.535 [Abstract] [PDF] [Request Permissions]

	Congenital renal tubular dysplasia and skull ossification defects similar to teratogenic effects of angiotensin converting enzyme (ACE) inhibitors. D Kumar, G Moss, R Primhak, and R Coombs J Med Genet 1997; 34: 541-545. doi:10.1136/jmg.34.7.541 [Abstract] [PDF] [Request Permissions]

	Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy. A P Brézin, A Béchetoille, P Hamard, F Valtot, M Berkani, A Belmouden, M F Adam, S Dupont de Dinechin, J F Bach, and H J Garchon J Med Genet 1997; 34: 546-552. doi:10.1136/jmg.34.7.546 [Abstract] [PDF] [Request Permissions]

	The effects of genotype and infant weight on adult plasma levels of fibrinogen, factor VII, and LDL cholesterol are additive. J A Henry, M Bolla, C Osmond, C Fall, D J Barker, and S E Humphries J Med Genet 1997; 34: 553-558. doi:10.1136/jmg.34.7.553 [Abstract] [PDF] [Request Permissions]

	Progressive pseudorheumatoid dysplasia: report of a family and review. H E el-Shanti, H Z Omari, and H I Qubain J Med Genet 1997; 34: 559-563. doi:10.1136/jmg.34.7.559 [Abstract] [PDF] [Request Permissions]

	Intelligence indices in people with a high/low risk for developing Huntington's disease. G M de Boo, A Tibben, J B Lanser, A Jennekens-Schinkel, J Hermans, M Vegter-van der Vlis, and R A Roos J Med Genet 1997; 34: 564-568. doi:10.1136/jmg.34.7.564 [Abstract] [PDF] [Request Permissions]

	Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3. S G Kant, A Van Haeringen, E Bakker, I Stec, D Donnai, P Mollevanger, G C Beverstock, M C Lindeman-Kusse, and G J Van Ommen J Med Genet 1997; 34: 569-572. doi:10.1136/jmg.34.7.569 [Abstract] [PDF] [Request Permissions]

	Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population. A N Akarsu, U Saatci, S Ozen, A Bakkaloglu, N Besbas, and M Sarfarazi J Med Genet 1997; 34: 573-578. doi:10.1136/jmg.34.7.573 [Abstract] [PDF] [Request Permissions]

	Four frameshift mutations in neurofibromatosis type 1 caused by small insertions. S D Colman, C R Abernathy, V T Ho, and M R Wallace J Med Genet 1997; 34: 579-581. doi:10.1136/jmg.34.7.579 [Abstract] [PDF] [Request Permissions]

	Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). B D Coppin and I K Temple J Med Genet 1997; 34: 582-586. doi:10.1136/jmg.34.7.582 [Abstract] [PDF] [Request Permissions]

	A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes. M Ariza, V Alvarez, R Marín, S Aguado, C López-Larrea, J Alvarez, M J Menéndez, and E Coto J Med Genet 1997; 34: 587-589. doi:10.1136/jmg.34.7.587 [Abstract] [PDF] [Request Permissions]

	Identification of a recombination event narrowing the Lafora disease gene region. L O Maddox, M Descartes, J Collins, J Keating, S Rosenfeld, C Palmer, A J Carroll, and R Kuzniecky J Med Genet 1997; 34: 590-591. doi:10.1136/jmg.34.7.590 [Abstract] [PDF] [Request Permissions]

	The 12 base pair duplication/insertion alteration could be a regulatory mutation. M Robledo, A Osorio, C Sentís, J Albertos, L Estevez, and J Benítez J Med Genet 1997; 34: 592-593. doi:10.1136/jmg.34.7.592 [Abstract] [PDF] [Request Permissions]

	Phosphoserine phosphatase deficiency in a patient with Williams syndrome. J Jaeken, M Detheux, J P Fryns, J F Collet, P Alliet, and E Van Schaftingen J Med Genet 1997; 34: 594-596. doi:10.1136/jmg.34.7.594 [Abstract] [PDF] [Request Permissions]

	A case of apparent trisomy 21 without the Down's syndrome phenotype. D Avramopoulos, I Kennerknecht, G Barbi, D Eckert, J M Delabar, C Maunoury, A Hallberg, and M B Petersen J Med Genet 1997; 34: 597-600. doi:10.1136/jmg.34.7.597 [Abstract] [PDF] [Request Permissions]

	Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree. S J Mitchell, T Cole, and D H Redford J Med Genet 1997; 34: 601-603. doi:10.1136/jmg.34.7.601 [Abstract] [PDF] [Request Permissions]

	A case of Lenz microphthalmia syndrome. F F Ozkinay, C Ozkinay, H Yüksel, A Yenigun, G Sapmaz, and O Aksu J Med Genet 1997; 34: 604-606. doi:10.1136/jmg.34.7.604 [Abstract] [PDF] [Request Permissions]

	The mitochondrial A3243G mutation presenting as severe cardiomyopathy. L Vilarinho, F M Santorelli, M J Rosas, C Tavares, M Melo-Pires, and S DiMauro J Med Genet 1997; 34: 607-609. doi:10.1136/jmg.34.7.607 [Abstract] [PDF] [Request Permissions]

	A report of a child with a deletion (9)(q34.3): a recognisable phenotype? H Ayyash, R Mueller, E Maltby, P Horsfield, N Telford, and R Tyler J Med Genet 1997; 34: 610-612. doi:10.1136/jmg.34.7.610 [Abstract] [PDF] [Request Permissions]

	Marfan syndrome. A De Paepe and R C Hennekam J Med Genet 1997; 34: 614. doi:10.1136/jmg.34.7.614 [PDF] [Request Permissions]