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July 1996 (Volume 33, Number 7). [Index by author]

		Abstracts Book Reviews Letters to the Editor Research Article

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Abstracts

Medical genetics: advances in brief
Angela Barnicoat
J Med Genet 1996; 33: 628. doi:10.1136/jmg.33.7.628 [PDF] [Request Permissions]

Medical genetics: advances in brief: Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin
Frances Flinter
J Med Genet 1996; 33: 628. doi:10.1136/jmg.33.7.628-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Partial deficiency of surfactant protein B in an infant with chronic lung disease
Jill Clayton-Smith
J Med Genet 1996; 33: 628. doi:10.1136/jmg.33.7.628-b [PDF] [Request Permissions]

Medical genetics: advances in brief: Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
John C K Barber
J Med Genet 1996; 33: 628-629. doi:10.1136/jmg.33.7.628-c [PDF] [Request Permissions]

Medical genetics: advances in brief: Prenatal screening for cystic fibrosis: 5 years' experience reviewed
Angela Barnicoat
J Med Genet 1996; 33: 629. doi:10.1136/jmg.33.7.629 [PDF] [Request Permissions]

Medical genetics: advances in brief: Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis
Frances Flinter
J Med Genet 1996; 33: 629. doi:10.1136/jmg.33.7.629-a [PDF] [Request Permissions]

Book Reviews

YAC Protocols
Edward J Louis
J Med Genet 1996; 33: 630-631. doi:10.1136/jmg.33.7.630-b [PDF] [Request Permissions]

Autosomal Dominant Polycystic Kidney Disease
Frances Flinter
J Med Genet 1996; 33: 631. doi:10.1136/jmg.33.7.631 [PDF] [Request Permissions]

Molecular Genetics of Human Inherited Disease
Joanne L Whittaker
J Med Genet 1996; 33: 631. doi:10.1136/jmg.33.7.631-a [PDF] [Request Permissions]

Letters to the Editor

Reply
Fiona Mansergh, Peter Humphries, and Jane Farrar
J Med Genet 1996; 33: 630. doi:10.1136/jmg.33.7.630-a [PDF] [Request Permissions]

Research Article

Confined placental mosaicism.
D K Kalousek and M Vekemans
J Med Genet 1996; 33: 529-533. doi:10.1136/jmg.33.7.529 [Abstract] [PDF] [Request Permissions]

Increased incidence of cancer in first degree relatives of women with double primary carcinomas of the breast and colon.
W D Foulkes, N Bolduc, D Lambert, O Ginsburg, L Olien, D W Yandell, P N Tonin, and S A Narod
J Med Genet 1996; 33: 534-539. doi:10.1136/jmg.33.7.534 [Abstract] [PDF] [Request Permissions]

Attitudes to predictive DNA testing in familial adenomatous polyposis.
S Whitelaw, J M Northover, and S V Hodgson
J Med Genet 1996; 33: 540-543. doi:10.1136/jmg.33.7.540 [Abstract] [PDF] [Request Permissions]

Attitudes towards bipolar disorder and predictive genetic testing among patients and providers.
L B Smith, B Sapers, V I Reus, and N B Freimer
J Med Genet 1996; 33: 544-549. doi:10.1136/jmg.33.7.544 [Abstract] [PDF] [Request Permissions]

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.
S C Yau, M Bobrow, C G Mathew, and S J Abbs
J Med Genet 1996; 33: 550-558. doi:10.1136/jmg.33.7.550 [Abstract] [PDF] [Request Permissions]

Report of a critical recombination further narrowing the TSC1 region.
K S Au, J Murrell, A Buckler, S H Blanton, and H Northrup
J Med Genet 1996; 33: 559-561. doi:10.1136/jmg.33.7.559 [Abstract] [PDF] [Request Permissions]

Disclosure of five breakpoints in a complex chromosome rearrangement by microdissection and FISH.
J J Engelen, W J Loots, J C Albrechts, P C Motoh, J P Fryns, A J Hamers, and J P Geraedts
J Med Genet 1996; 33: 562-566. doi:10.1136/jmg.33.7.562 [Abstract] [PDF] [Request Permissions]

Evidence of a long QT founder gene with varying phenotypic expression in South African families.
T de Jager, C H Corbett, J C Badenhorst, P A Brink, and V A Corfield
J Med Genet 1996; 33: 567-573. doi:10.1136/jmg.33.7.567 [Abstract] [PDF] [Request Permissions]

Down syndrome in association with features of the androgen insensitivity syndrome.
R M Viner, N Shimura, B D Brown, A J Green, and I A Hughes
J Med Genet 1996; 33: 574-577. doi:10.1136/jmg.33.7.574 [Abstract] [PDF] [Request Permissions]

Holoprosencephaly in the west of Scotland 1975-1994.
M L Whiteford and J L Tolmie
J Med Genet 1996; 33: 578-584. doi:10.1136/jmg.33.7.578 [Abstract] [PDF] [Request Permissions]

Pallister-Hall syndrome.
L G Biesecker and J M Graham, Jr
J Med Genet 1996; 33: 585-589. doi:10.1136/jmg.33.7.585 [PDF] [Request Permissions]

Linkage disequilibrium between four intragenic polymorphic microsatellites of the NF1 gene and its implications for genetic counselling.
M C Valero, E Velasco, A Valero, F Moreno, and C Hernández-Chico
J Med Genet 1996; 33: 590-593. doi:10.1136/jmg.33.7.590 [Abstract] [PDF] [Request Permissions]

An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.
A J Green, R N Sandford, and B C Davison
J Med Genet 1996; 33: 594-596. doi:10.1136/jmg.33.7.594 [Abstract] [PDF] [Request Permissions]

Possible autosomal recessive inheritance of progressive hearing loss with stapes fixation.
C Thies, M Handrock, K Sperling, and A Rcis
J Med Genet 1996; 33: 597-599. doi:10.1136/jmg.33.7.597 [Abstract] [PDF] [Request Permissions]

A case of duplication of 13q32-->qter and deletion of 18p11.32-->pter with mild phenotype: Patau syndrome and duplications of 13q revisited.
N Helali, A K Iafolla, S G Kahler, and M B Qumsiyeh
J Med Genet 1996; 33: 600-602. doi:10.1136/jmg.33.7.600 [Abstract] [PDF] [Request Permissions]

Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging.
S J Edwards, A Fowlie, M P Cust, D T Liu, I D Young, and M J Dixon
J Med Genet 1996; 33: 603-606. doi:10.1136/jmg.33.7.603 [Abstract] [PDF] [Request Permissions]

Xeroderma pigmentosum--Cockayne syndrome complex: a further case.
B C Hamel, A Raams, A R Schuitema-Dijkstra, P Simons, I van der Burgt, N G Jaspers, and W J Kleijer
J Med Genet 1996; 33: 607-610. doi:10.1136/jmg.33.7.607 [Abstract] [PDF] [Request Permissions]

FRAXF in a patient with chromosome 8 duplication.
A M Vianna-Morgante, R C Mingroni-Netto, A C Barbosa, P A Otto, and C Rosenberg
J Med Genet 1996; 33: 611-614. doi:10.1136/jmg.33.7.611 [Abstract] [PDF] [Request Permissions]

Partial duplication of 3q and distal deletion of 11q in a stillbirth with an omphalocele containing the liver, short limbs, and intrauterine growth retardation.
C P Chen, F F Liu, S W Jan, C P Chen, and C C Lan
J Med Genet 1996; 33: 615-617. doi:10.1136/jmg.33.7.615 [Abstract] [PDF] [Request Permissions]

MURCS association: case report and review.
C Braun-Quentin, C Billes, B Böwing, and D Kotzot
J Med Genet 1996; 33: 618-620. doi:10.1136/jmg.33.7.618 [Abstract] [PDF] [Request Permissions]

Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation.
T Yorifuji, M Kawai, T Momoi, H Sasaki, K Furusho, J Muroi, K Shimizu, Y Takahashi, M Matsumura, M Nambu, and T Okuno
J Med Genet 1996; 33: 621-622. doi:10.1136/jmg.33.7.621 [Abstract] [PDF] [Request Permissions]

An ovine CFTR variant as a putative cystic fibrosis causing mutation.
S J Tebbutt, A Harris, and D F Hill
J Med Genet 1996; 33: 623-624. doi:10.1136/jmg.33.7.623 [Abstract] [PDF] [Request Permissions]

A mild phenotype associated with der(9)t(3;9) (p25;p23).
R J McClure, N Telford, and S J Newell
J Med Genet 1996; 33: 625-627. doi:10.1136/jmg.33.7.625 [Abstract] [PDF] [Request Permissions]

Still no evidence for heterogeneity in Best's vitelliform macular dystrophy.
C Graff and C Wadelius
J Med Genet 1996; 33: 630. doi:10.1136/jmg.33.7.630 [PDF] [Request Permissions]

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	Medical genetics: advances in brief Angela Barnicoat J Med Genet 1996; 33: 628. doi:10.1136/jmg.33.7.628 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin Frances Flinter J Med Genet 1996; 33: 628. doi:10.1136/jmg.33.7.628-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Partial deficiency of surfactant protein B in an infant with chronic lung disease Jill Clayton-Smith J Med Genet 1996; 33: 628. doi:10.1136/jmg.33.7.628-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion John C K Barber J Med Genet 1996; 33: 628-629. doi:10.1136/jmg.33.7.628-c [PDF] [Request Permissions]

	Medical genetics: advances in brief: Prenatal screening for cystic fibrosis: 5 years' experience reviewed Angela Barnicoat J Med Genet 1996; 33: 629. doi:10.1136/jmg.33.7.629 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis Frances Flinter J Med Genet 1996; 33: 629. doi:10.1136/jmg.33.7.629-a [PDF] [Request Permissions]

	YAC Protocols Edward J Louis J Med Genet 1996; 33: 630-631. doi:10.1136/jmg.33.7.630-b [PDF] [Request Permissions]

	Autosomal Dominant Polycystic Kidney Disease Frances Flinter J Med Genet 1996; 33: 631. doi:10.1136/jmg.33.7.631 [PDF] [Request Permissions]

	Molecular Genetics of Human Inherited Disease Joanne L Whittaker J Med Genet 1996; 33: 631. doi:10.1136/jmg.33.7.631-a [PDF] [Request Permissions]

	Reply Fiona Mansergh, Peter Humphries, and Jane Farrar J Med Genet 1996; 33: 630. doi:10.1136/jmg.33.7.630-a [PDF] [Request Permissions]

	Confined placental mosaicism. D K Kalousek and M Vekemans J Med Genet 1996; 33: 529-533. doi:10.1136/jmg.33.7.529 [Abstract] [PDF] [Request Permissions]

	Increased incidence of cancer in first degree relatives of women with double primary carcinomas of the breast and colon. W D Foulkes, N Bolduc, D Lambert, O Ginsburg, L Olien, D W Yandell, P N Tonin, and S A Narod J Med Genet 1996; 33: 534-539. doi:10.1136/jmg.33.7.534 [Abstract] [PDF] [Request Permissions]

	Attitudes to predictive DNA testing in familial adenomatous polyposis. S Whitelaw, J M Northover, and S V Hodgson J Med Genet 1996; 33: 540-543. doi:10.1136/jmg.33.7.540 [Abstract] [PDF] [Request Permissions]

	Attitudes towards bipolar disorder and predictive genetic testing among patients and providers. L B Smith, B Sapers, V I Reus, and N B Freimer J Med Genet 1996; 33: 544-549. doi:10.1136/jmg.33.7.544 [Abstract] [PDF] [Request Permissions]

	Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. S C Yau, M Bobrow, C G Mathew, and S J Abbs J Med Genet 1996; 33: 550-558. doi:10.1136/jmg.33.7.550 [Abstract] [PDF] [Request Permissions]

	Report of a critical recombination further narrowing the TSC1 region. K S Au, J Murrell, A Buckler, S H Blanton, and H Northrup J Med Genet 1996; 33: 559-561. doi:10.1136/jmg.33.7.559 [Abstract] [PDF] [Request Permissions]

	Disclosure of five breakpoints in a complex chromosome rearrangement by microdissection and FISH. J J Engelen, W J Loots, J C Albrechts, P C Motoh, J P Fryns, A J Hamers, and J P Geraedts J Med Genet 1996; 33: 562-566. doi:10.1136/jmg.33.7.562 [Abstract] [PDF] [Request Permissions]

	Evidence of a long QT founder gene with varying phenotypic expression in South African families. T de Jager, C H Corbett, J C Badenhorst, P A Brink, and V A Corfield J Med Genet 1996; 33: 567-573. doi:10.1136/jmg.33.7.567 [Abstract] [PDF] [Request Permissions]

	Down syndrome in association with features of the androgen insensitivity syndrome. R M Viner, N Shimura, B D Brown, A J Green, and I A Hughes J Med Genet 1996; 33: 574-577. doi:10.1136/jmg.33.7.574 [Abstract] [PDF] [Request Permissions]

	Holoprosencephaly in the west of Scotland 1975-1994. M L Whiteford and J L Tolmie J Med Genet 1996; 33: 578-584. doi:10.1136/jmg.33.7.578 [Abstract] [PDF] [Request Permissions]

	Pallister-Hall syndrome. L G Biesecker and J M Graham, Jr J Med Genet 1996; 33: 585-589. doi:10.1136/jmg.33.7.585 [PDF] [Request Permissions]

	Linkage disequilibrium between four intragenic polymorphic microsatellites of the NF1 gene and its implications for genetic counselling. M C Valero, E Velasco, A Valero, F Moreno, and C Hernández-Chico J Med Genet 1996; 33: 590-593. doi:10.1136/jmg.33.7.590 [Abstract] [PDF] [Request Permissions]

	An autosomal dominant syndrome of renal and anogenital malformations with syndactyly. A J Green, R N Sandford, and B C Davison J Med Genet 1996; 33: 594-596. doi:10.1136/jmg.33.7.594 [Abstract] [PDF] [Request Permissions]

	Possible autosomal recessive inheritance of progressive hearing loss with stapes fixation. C Thies, M Handrock, K Sperling, and A Rcis J Med Genet 1996; 33: 597-599. doi:10.1136/jmg.33.7.597 [Abstract] [PDF] [Request Permissions]

	A case of duplication of 13q32-->qter and deletion of 18p11.32-->pter with mild phenotype: Patau syndrome and duplications of 13q revisited. N Helali, A K Iafolla, S G Kahler, and M B Qumsiyeh J Med Genet 1996; 33: 600-602. doi:10.1136/jmg.33.7.600 [Abstract] [PDF] [Request Permissions]

	Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging. S J Edwards, A Fowlie, M P Cust, D T Liu, I D Young, and M J Dixon J Med Genet 1996; 33: 603-606. doi:10.1136/jmg.33.7.603 [Abstract] [PDF] [Request Permissions]

	Xeroderma pigmentosum--Cockayne syndrome complex: a further case. B C Hamel, A Raams, A R Schuitema-Dijkstra, P Simons, I van der Burgt, N G Jaspers, and W J Kleijer J Med Genet 1996; 33: 607-610. doi:10.1136/jmg.33.7.607 [Abstract] [PDF] [Request Permissions]

	FRAXF in a patient with chromosome 8 duplication. A M Vianna-Morgante, R C Mingroni-Netto, A C Barbosa, P A Otto, and C Rosenberg J Med Genet 1996; 33: 611-614. doi:10.1136/jmg.33.7.611 [Abstract] [PDF] [Request Permissions]

	Partial duplication of 3q and distal deletion of 11q in a stillbirth with an omphalocele containing the liver, short limbs, and intrauterine growth retardation. C P Chen, F F Liu, S W Jan, C P Chen, and C C Lan J Med Genet 1996; 33: 615-617. doi:10.1136/jmg.33.7.615 [Abstract] [PDF] [Request Permissions]

	MURCS association: case report and review. C Braun-Quentin, C Billes, B Böwing, and D Kotzot J Med Genet 1996; 33: 618-620. doi:10.1136/jmg.33.7.618 [Abstract] [PDF] [Request Permissions]

	Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation. T Yorifuji, M Kawai, T Momoi, H Sasaki, K Furusho, J Muroi, K Shimizu, Y Takahashi, M Matsumura, M Nambu, and T Okuno J Med Genet 1996; 33: 621-622. doi:10.1136/jmg.33.7.621 [Abstract] [PDF] [Request Permissions]

	An ovine CFTR variant as a putative cystic fibrosis causing mutation. S J Tebbutt, A Harris, and D F Hill J Med Genet 1996; 33: 623-624. doi:10.1136/jmg.33.7.623 [Abstract] [PDF] [Request Permissions]

	A mild phenotype associated with der(9)t(3;9) (p25;p23). R J McClure, N Telford, and S J Newell J Med Genet 1996; 33: 625-627. doi:10.1136/jmg.33.7.625 [Abstract] [PDF] [Request Permissions]

	Still no evidence for heterogeneity in Best's vitelliform macular dystrophy. C Graff and C Wadelius J Med Genet 1996; 33: 630. doi:10.1136/jmg.33.7.630 [PDF] [Request Permissions]