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July 1998 (Volume 35, Number 7). [Index by author]

		Book Review Research Article

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Book Review

Gene Therapy for Neurological Disorders and Brain Tumours
John Macmillan
J Med Genet 1998; 35: 615. doi:10.1136/jmg.35.7.615 [PDF] [Request Permissions]

Research Article

Mutation databases on the Web.
A I Wacey and E G Tuddenham
J Med Genet 1998; 35: 529-533. doi:10.1136/jmg.35.7.529 [PDF] [Request Permissions]

Molecular screening for proximal 15q abnormalities in a mentally retarded population.
J Jacobsen, B H King, B L Leventhal, S L Christian, D H Ledbetter, and E H Cook, Jr
J Med Genet 1998; 35: 534-538. doi:10.1136/jmg.35.7.534 [Abstract] [PDF] [Request Permissions]

Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes.
T Yorifuji, J Muroi, M Kawai, A Uematsu, H Sasaki, T Momoi, M Kaji, C Yamanaka, and K Furusho
J Med Genet 1998; 35: 539-544. doi:10.1136/jmg.35.7.539 [Abstract] [PDF] [Request Permissions]

Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.
D Wieczorek, H Engels, R Viersbach, B Henke, G Schwanitz, and E Passarge
J Med Genet 1998; 35: 545-553. doi:10.1136/jmg.35.7.545 [Abstract] [PDF] [Request Permissions]

Choroid plexus cysts and aneuploidy.
D Peleg and J Yankowitz
J Med Genet 1998; 35: 554-557. doi:10.1136/jmg.35.7.554 [Abstract] [PDF] [Request Permissions]

Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.
A K Ryan, K Bartlett, P Clayton, S Eaton, L Mills, D Donnai, R M Winter, and J Burn
J Med Genet 1998; 35: 558-565. doi:10.1136/jmg.35.7.558 [Abstract] [PDF] [Request Permissions]

A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations.
C M Hall, N H Elçioglu, and D G Shaw
J Med Genet 1998; 35: 566-572. doi:10.1136/jmg.35.7.566 [Abstract] [PDF] [Request Permissions]

Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland.
W K Lee, L Haddad, M J Macleod, A M Dorrance, D J Wilson, D Gaffney, M H Dominiczak, C J Packard, I N Day, S E Humphries, and A F Dominiczak
J Med Genet 1998; 35: 573-578. doi:10.1136/jmg.35.7.573 [Abstract] [PDF] [Request Permissions]

The fragile X syndrome.
B B de Vries, D J Halley, B A Oostra, and M F Niermeijer
J Med Genet 1998; 35: 579-589. doi:10.1136/jmg.35.7.579 [Abstract] [PDF] [Request Permissions]

Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.
E Nelis, P De Jonghe, E De Vriendt, P I Patel, J J Martin, and C Van Broeckhoven
J Med Genet 1998; 35: 590-593. doi:10.1136/jmg.35.7.590 [Abstract] [PDF] [Request Permissions]

Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.
A de Meeus, C Guittard, M Desgeorges, S Carles, J Demaille, and M Claustres
J Med Genet 1998; 35: 594-596. doi:10.1136/jmg.35.7.594 [Abstract] [PDF] [Request Permissions]

Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.
R Savarirayan and A Bankier
J Med Genet 1998; 35: 597-599. doi:10.1136/jmg.35.7.597 [Abstract] [PDF] [Request Permissions]

Mosaicism for a tandem duplication dup(1)(q12q22) in an 18 year old female.
D de Silva, D Massie, J Drummond, D Couzin, and J C Dean
J Med Genet 1998; 35: 600-603. doi:10.1136/jmg.35.7.600 [Abstract] [PDF] [Request Permissions]

Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).
A S Plomp, J J Engelen, J C Albrechts, C E de Die-Smulders, and A J Hamers
J Med Genet 1998; 35: 604-608. doi:10.1136/jmg.35.7.604 [Abstract] [PDF] [Request Permissions]

Extensive form of aplasia cutis congenita: a new syndrome?
M S Park, S H Hahn, C H Hong, J S Kim, and H S Kim
J Med Genet 1998; 35: 609-611. doi:10.1136/jmg.35.7.609 [Abstract] [PDF] [Request Permissions]

Holoprosencephaly in deletions of proximal chromosome 14q.
K Devriendt, J P Fryns, and C P Chen
J Med Genet 1998; 35: 612. doi:10.1136/jmg.35.7.612 [PDF] [Request Permissions]

No evidence for heterogeneity in oculopharyngeal muscular dystrophy.
W Kress, B Halliger-Keller, T Grimm, H Porschke, A Engelhardt, H H Goebel, and B Müller-Mysok
J Med Genet 1998; 35: 613-614. doi:10.1136/jmg.35.7.613 [PDF] [Request Permissions]

Another holoprosencephaly locus at 7q21.2?
J P Fryns
J Med Genet 1998; 35: 614-615. doi:10.1136/jmg.35.7.614 [PDF] [Request Permissions]

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	Gene Therapy for Neurological Disorders and Brain Tumours John Macmillan J Med Genet 1998; 35: 615. doi:10.1136/jmg.35.7.615 [PDF] [Request Permissions]

	Mutation databases on the Web. A I Wacey and E G Tuddenham J Med Genet 1998; 35: 529-533. doi:10.1136/jmg.35.7.529 [PDF] [Request Permissions]

	Molecular screening for proximal 15q abnormalities in a mentally retarded population. J Jacobsen, B H King, B L Leventhal, S L Christian, D H Ledbetter, and E H Cook, Jr J Med Genet 1998; 35: 534-538. doi:10.1136/jmg.35.7.534 [Abstract] [PDF] [Request Permissions]

	Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes. T Yorifuji, J Muroi, M Kawai, A Uematsu, H Sasaki, T Momoi, M Kaji, C Yamanaka, and K Furusho J Med Genet 1998; 35: 539-544. doi:10.1136/jmg.35.7.539 [Abstract] [PDF] [Request Permissions]

	Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs. D Wieczorek, H Engels, R Viersbach, B Henke, G Schwanitz, and E Passarge J Med Genet 1998; 35: 545-553. doi:10.1136/jmg.35.7.545 [Abstract] [PDF] [Request Permissions]

	Choroid plexus cysts and aneuploidy. D Peleg and J Yankowitz J Med Genet 1998; 35: 554-557. doi:10.1136/jmg.35.7.554 [Abstract] [PDF] [Request Permissions]

	Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. A K Ryan, K Bartlett, P Clayton, S Eaton, L Mills, D Donnai, R M Winter, and J Burn J Med Genet 1998; 35: 558-565. doi:10.1136/jmg.35.7.558 [Abstract] [PDF] [Request Permissions]

	A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations. C M Hall, N H Elçioglu, and D G Shaw J Med Genet 1998; 35: 566-572. doi:10.1136/jmg.35.7.566 [Abstract] [PDF] [Request Permissions]

	Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland. W K Lee, L Haddad, M J Macleod, A M Dorrance, D J Wilson, D Gaffney, M H Dominiczak, C J Packard, I N Day, S E Humphries, and A F Dominiczak J Med Genet 1998; 35: 573-578. doi:10.1136/jmg.35.7.573 [Abstract] [PDF] [Request Permissions]

	The fragile X syndrome. B B de Vries, D J Halley, B A Oostra, and M F Niermeijer J Med Genet 1998; 35: 579-589. doi:10.1136/jmg.35.7.579 [Abstract] [PDF] [Request Permissions]

	Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP. E Nelis, P De Jonghe, E De Vriendt, P I Patel, J J Martin, and C Van Broeckhoven J Med Genet 1998; 35: 590-593. doi:10.1136/jmg.35.7.590 [Abstract] [PDF] [Request Permissions]

	Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD. A de Meeus, C Guittard, M Desgeorges, S Carles, J Demaille, and M Claustres J Med Genet 1998; 35: 594-596. doi:10.1136/jmg.35.7.594 [Abstract] [PDF] [Request Permissions]

	Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype. R Savarirayan and A Bankier J Med Genet 1998; 35: 597-599. doi:10.1136/jmg.35.7.597 [Abstract] [PDF] [Request Permissions]

	Mosaicism for a tandem duplication dup(1)(q12q22) in an 18 year old female. D de Silva, D Massie, J Drummond, D Couzin, and J C Dean J Med Genet 1998; 35: 600-603. doi:10.1136/jmg.35.7.600 [Abstract] [PDF] [Request Permissions]

	Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3). A S Plomp, J J Engelen, J C Albrechts, C E de Die-Smulders, and A J Hamers J Med Genet 1998; 35: 604-608. doi:10.1136/jmg.35.7.604 [Abstract] [PDF] [Request Permissions]

	Extensive form of aplasia cutis congenita: a new syndrome? M S Park, S H Hahn, C H Hong, J S Kim, and H S Kim J Med Genet 1998; 35: 609-611. doi:10.1136/jmg.35.7.609 [Abstract] [PDF] [Request Permissions]

	Holoprosencephaly in deletions of proximal chromosome 14q. K Devriendt, J P Fryns, and C P Chen J Med Genet 1998; 35: 612. doi:10.1136/jmg.35.7.612 [PDF] [Request Permissions]

	No evidence for heterogeneity in oculopharyngeal muscular dystrophy. W Kress, B Halliger-Keller, T Grimm, H Porschke, A Engelhardt, H H Goebel, and B Müller-Mysok J Med Genet 1998; 35: 613-614. doi:10.1136/jmg.35.7.613 [PDF] [Request Permissions]

	Another holoprosencephaly locus at 7q21.2? J P Fryns J Med Genet 1998; 35: 614-615. doi:10.1136/jmg.35.7.614 [PDF] [Request Permissions]