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November 1993 (Volume 30, Number 11). [Index by author]

		Abstracts Book Review Research Article

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Abstracts

Medical genetics: advances in brief: X-linked borderline mental retardation with prominent behavioural disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism
Judith Goodship
J Med Genet 1993; 30: 972. doi:10.1136/jmg.30.11.972 [PDF] [Request Permissions]

Medical genetics: advances in brief: Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease)
Andrew Norman
J Med Genet 1993; 30: 972. doi:10.1136/jmg.30.11.972-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Mitochondrial gene mutation in isletcell-antibody-positive patients who were initially non-insulin-dependent diabetics
W Reardon
J Med Genet 1993; 30: 972. doi:10.1136/jmg.30.11.972-b [PDF] [Request Permissions]

Medical genetics: advances in brief: Isolation of a Miller-Dieker lissencephaly gene containing G protein β-subunit-like repeats
Andrew Wilkie
J Med Genet 1993; 30: 972. doi:10.1136/jmg.30.11.972-c [PDF] [Request Permissions]

Medical genetics: advances in brief: Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase
John C K Barber
J Med Genet 1993; 30: 972. doi:10.1136/jmg.30.11.972-d [PDF] [Request Permissions]

Book Review

Archibald Garrod—and the Individuality of Man
Alan Emery
J Med Genet 1993; 30: 973. doi:10.1136/jmg.30.11.973-b [PDF] [Request Permissions]

Research Article

The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme.
P K Mistry and T M Cox
J Med Genet 1993; 30: 889-894. doi:10.1136/jmg.30.11.889 [PDF] [Request Permissions]

Molecular mechanisms in Angelman syndrome: a survey of 93 patients.
C T Chan, J Clayton-Smith, X J Cheng, J Buxton, T Webb, M E Pembrey, and S Malcolm
J Med Genet 1993; 30: 895-902. doi:10.1136/jmg.30.11.895 [Abstract] [PDF] [Request Permissions]

Development and validation of laboratory procedures for preimplantation diagnosis of Duchenne muscular dystrophy.
C Holding, D Bentley, R Roberts, M Bobrow, and C Mathew
J Med Genet 1993; 30: 903-909. doi:10.1136/jmg.30.11.903 [Abstract] [PDF] [Request Permissions]

Estimating locus heterogeneity in autosomal dominant polycystic kidney disease (ADPKD) in the Spanish population.
B Peral, J L San Millán, C Hernández, A Valero, G M Lathrop, J S Beckmann, and F Moreno
J Med Genet 1993; 30: 910-913. doi:10.1136/jmg.30.11.910 [Abstract] [PDF] [Request Permissions]

Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).
M C Koch, K Ricker, M Otto, F Wolf, B Zoll, C Lorenz, K Steinmeyer, and T J Jentsch
J Med Genet 1993; 30: 914-917. doi:10.1136/jmg.30.11.914 [Abstract] [PDF] [Request Permissions]

Chromosomal localisation of a gene(s) for Turner stigmata on Yp.
T Ogata, C Tyler-Smith, S Purvis-Smith, and G Turner
J Med Genet 1993; 30: 918-922. doi:10.1136/jmg.30.11.918 [Abstract] [PDF] [Request Permissions]

Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci.
Y Zhang, R McMahon, S J Charles, J S Green, A T Moore, D E Barton, and J R Yates
J Med Genet 1993; 30: 923-925. doi:10.1136/jmg.30.11.923 [Abstract] [PDF] [Request Permissions]

Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences.
E Rossi, G Floridia, M Casali, C Danesino, G Chiumello, F Bernardi, I Magnani, L Papi, M Mura, and O Zuffardi
J Med Genet 1993; 30: 926-931. doi:10.1136/jmg.30.11.926 [Abstract] [PDF] [Request Permissions]

Diagnostic criteria and genetics of the PEHO syndrome.
M Somer
J Med Genet 1993; 30: 932-936. doi:10.1136/jmg.30.11.932 [Abstract] [PDF] [Request Permissions]

Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.
M L Martínez-Frías, E Bermejo, M Urioste, H Huertas, and I Arroyo
J Med Genet 1993; 30: 937-941. doi:10.1136/jmg.30.11.937 [Abstract] [PDF] [Request Permissions]

Neural tube defects: a survey of lesion descriptions made by different European pathologists.
H Dolk and M J Seller
J Med Genet 1993; 30: 942-946. doi:10.1136/jmg.30.11.942 [Abstract] [PDF] [Request Permissions]

Evidence of genetic and phenotypic heterogeneity in the Romano-Ward syndrome.
J C Dean, S Cross, and K Jennings
J Med Genet 1993; 30: 947-950. doi:10.1136/jmg.30.11.947 [Abstract] [PDF] [Request Permissions]

Non-isotopic analysis of single strand conformation polymorphism (SSCP) in the exon 13 region of the human dystrophin gene.
U Lenk, R Hanke, U Kräft, K Grade, I Grunewald, and A Speer
J Med Genet 1993; 30: 951-954. doi:10.1136/jmg.30.11.951 [Abstract] [PDF] [Request Permissions]

Dystrophin analysis in idiopathic dilated cardiomyopathy.
V V Michels, G M Pastores, P P Moll, D J Driscoll, F A Miller, J C Burnett, R J Rodeheffer, J A Tajik, A H Beggs, and L M Kunkel
J Med Genet 1993; 30: 955-957. doi:10.1136/jmg.30.11.955 [Abstract] [PDF] [Request Permissions]

Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5).
N Tommerup, C A Brandt, S Pedersen, L Bolund, and J Kamper
J Med Genet 1993; 30: 958-961. doi:10.1136/jmg.30.11.958 [Abstract] [PDF] [Request Permissions]

Epidermal naevi and bullous aplasia cutis congenita in a neonate.
J S Fryburg and K E Greer
J Med Genet 1993; 30: 962-963. doi:10.1136/jmg.30.11.962 [Abstract] [PDF] [Request Permissions]

Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype.
J Jenderny, A Caliebe, C Beyer, and W Grote
J Med Genet 1993; 30: 964-965. doi:10.1136/jmg.30.11.964 [Abstract] [PDF] [Request Permissions]

46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty.
I E Järvelä, M K Salo, P Santavuori, and R K Salonen
J Med Genet 1993; 30: 966-967. doi:10.1136/jmg.30.11.966 [Abstract] [PDF] [Request Permissions]

X linked recessive thrombocytopenia.
H H Knox-Macaulay, L Bashawri, and K E Davies
J Med Genet 1993; 30: 968-969. doi:10.1136/jmg.30.11.968 [Abstract] [PDF] [Request Permissions]

Pseudotrisomy 13 and autosomal recessive holoprosencephaly.
M J Seller, L S Chitty, and H Dunbar
J Med Genet 1993; 30: 970-971. doi:10.1136/jmg.30.11.970 [Abstract] [PDF] [Request Permissions]

Skeletal malformations and polycystic kidney disease.
R M Winter
J Med Genet 1993; 30: 973. doi:10.1136/jmg.30.11.973 [PDF] [Request Permissions]

A report on CF carrier frequency among men with infertility owing to congenital absence of the vas deferens.
C Williams, E S Mayall, R Williamson, A Hirsh, and H Cookson
J Med Genet 1993; 30: 973. doi:10.1136/jmg.30.11.973-a [PDF] [Request Permissions]

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	Medical genetics: advances in brief: X-linked borderline mental retardation with prominent behavioural disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism Judith Goodship J Med Genet 1993; 30: 972. doi:10.1136/jmg.30.11.972 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease) Andrew Norman J Med Genet 1993; 30: 972. doi:10.1136/jmg.30.11.972-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Mitochondrial gene mutation in isletcell-antibody-positive patients who were initially non-insulin-dependent diabetics W Reardon J Med Genet 1993; 30: 972. doi:10.1136/jmg.30.11.972-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: Isolation of a Miller-Dieker lissencephaly gene containing G protein β-subunit-like repeats Andrew Wilkie J Med Genet 1993; 30: 972. doi:10.1136/jmg.30.11.972-c [PDF] [Request Permissions]

	Medical genetics: advances in brief: Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase John C K Barber J Med Genet 1993; 30: 972. doi:10.1136/jmg.30.11.972-d [PDF] [Request Permissions]

	Archibald Garrod—and the Individuality of Man Alan Emery J Med Genet 1993; 30: 973. doi:10.1136/jmg.30.11.973-b [PDF] [Request Permissions]

	The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme. P K Mistry and T M Cox J Med Genet 1993; 30: 889-894. doi:10.1136/jmg.30.11.889 [PDF] [Request Permissions]

	Molecular mechanisms in Angelman syndrome: a survey of 93 patients. C T Chan, J Clayton-Smith, X J Cheng, J Buxton, T Webb, M E Pembrey, and S Malcolm J Med Genet 1993; 30: 895-902. doi:10.1136/jmg.30.11.895 [Abstract] [PDF] [Request Permissions]

	Development and validation of laboratory procedures for preimplantation diagnosis of Duchenne muscular dystrophy. C Holding, D Bentley, R Roberts, M Bobrow, and C Mathew J Med Genet 1993; 30: 903-909. doi:10.1136/jmg.30.11.903 [Abstract] [PDF] [Request Permissions]

	Estimating locus heterogeneity in autosomal dominant polycystic kidney disease (ADPKD) in the Spanish population. B Peral, J L San Millán, C Hernández, A Valero, G M Lathrop, J S Beckmann, and F Moreno J Med Genet 1993; 30: 910-913. doi:10.1136/jmg.30.11.910 [Abstract] [PDF] [Request Permissions]

	Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker). M C Koch, K Ricker, M Otto, F Wolf, B Zoll, C Lorenz, K Steinmeyer, and T J Jentsch J Med Genet 1993; 30: 914-917. doi:10.1136/jmg.30.11.914 [Abstract] [PDF] [Request Permissions]

	Chromosomal localisation of a gene(s) for Turner stigmata on Yp. T Ogata, C Tyler-Smith, S Purvis-Smith, and G Turner J Med Genet 1993; 30: 918-922. doi:10.1136/jmg.30.11.918 [Abstract] [PDF] [Request Permissions]

	Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci. Y Zhang, R McMahon, S J Charles, J S Green, A T Moore, D E Barton, and J R Yates J Med Genet 1993; 30: 923-925. doi:10.1136/jmg.30.11.923 [Abstract] [PDF] [Request Permissions]

	Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences. E Rossi, G Floridia, M Casali, C Danesino, G Chiumello, F Bernardi, I Magnani, L Papi, M Mura, and O Zuffardi J Med Genet 1993; 30: 926-931. doi:10.1136/jmg.30.11.926 [Abstract] [PDF] [Request Permissions]

	Diagnostic criteria and genetics of the PEHO syndrome. M Somer J Med Genet 1993; 30: 932-936. doi:10.1136/jmg.30.11.932 [Abstract] [PDF] [Request Permissions]

	Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum. M L Martínez-Frías, E Bermejo, M Urioste, H Huertas, and I Arroyo J Med Genet 1993; 30: 937-941. doi:10.1136/jmg.30.11.937 [Abstract] [PDF] [Request Permissions]

	Neural tube defects: a survey of lesion descriptions made by different European pathologists. H Dolk and M J Seller J Med Genet 1993; 30: 942-946. doi:10.1136/jmg.30.11.942 [Abstract] [PDF] [Request Permissions]

	Evidence of genetic and phenotypic heterogeneity in the Romano-Ward syndrome. J C Dean, S Cross, and K Jennings J Med Genet 1993; 30: 947-950. doi:10.1136/jmg.30.11.947 [Abstract] [PDF] [Request Permissions]

	Non-isotopic analysis of single strand conformation polymorphism (SSCP) in the exon 13 region of the human dystrophin gene. U Lenk, R Hanke, U Kräft, K Grade, I Grunewald, and A Speer J Med Genet 1993; 30: 951-954. doi:10.1136/jmg.30.11.951 [Abstract] [PDF] [Request Permissions]

	Dystrophin analysis in idiopathic dilated cardiomyopathy. V V Michels, G M Pastores, P P Moll, D J Driscoll, F A Miller, J C Burnett, R J Rodeheffer, J A Tajik, A H Beggs, and L M Kunkel J Med Genet 1993; 30: 955-957. doi:10.1136/jmg.30.11.955 [Abstract] [PDF] [Request Permissions]

	Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5). N Tommerup, C A Brandt, S Pedersen, L Bolund, and J Kamper J Med Genet 1993; 30: 958-961. doi:10.1136/jmg.30.11.958 [Abstract] [PDF] [Request Permissions]

	Epidermal naevi and bullous aplasia cutis congenita in a neonate. J S Fryburg and K E Greer J Med Genet 1993; 30: 962-963. doi:10.1136/jmg.30.11.962 [Abstract] [PDF] [Request Permissions]

	Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype. J Jenderny, A Caliebe, C Beyer, and W Grote J Med Genet 1993; 30: 964-965. doi:10.1136/jmg.30.11.964 [Abstract] [PDF] [Request Permissions]

	46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty. I E Järvelä, M K Salo, P Santavuori, and R K Salonen J Med Genet 1993; 30: 966-967. doi:10.1136/jmg.30.11.966 [Abstract] [PDF] [Request Permissions]

	X linked recessive thrombocytopenia. H H Knox-Macaulay, L Bashawri, and K E Davies J Med Genet 1993; 30: 968-969. doi:10.1136/jmg.30.11.968 [Abstract] [PDF] [Request Permissions]

	Pseudotrisomy 13 and autosomal recessive holoprosencephaly. M J Seller, L S Chitty, and H Dunbar J Med Genet 1993; 30: 970-971. doi:10.1136/jmg.30.11.970 [Abstract] [PDF] [Request Permissions]

	Skeletal malformations and polycystic kidney disease. R M Winter J Med Genet 1993; 30: 973. doi:10.1136/jmg.30.11.973 [PDF] [Request Permissions]

	A report on CF carrier frequency among men with infertility owing to congenital absence of the vas deferens. C Williams, E S Mayall, R Williamson, A Hirsh, and H Cookson J Med Genet 1993; 30: 973. doi:10.1136/jmg.30.11.973-a [PDF] [Request Permissions]