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September 1993 (Volume 30, Number 9). [Index by author]

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Abstracts

Medical genetics: advances in brief: Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
Andrew Wilkie
J Med Genet 1993; 30: 796. doi:10.1136/jmg.30.9.796 [PDF] [Request Permissions]

Medical genetics: advances in brief: Identification of the von Hippel-Lindau disease tumour suppressor gene
John C K Barber
J Med Genet 1993; 30: 796. doi:10.1136/jmg.30.9.796-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia
W Reardon
J Med Genet 1993; 30: 796. doi:10.1136/jmg.30.9.796-b [PDF] [Request Permissions]

Medical genetics: advances in brief
Andrew Norman
J Med Genet 1993; 30: 796. doi:10.1136/jmg.30.9.796-c [PDF] [Request Permissions]

Book Reviews

HLA 1991, Proceedings of the XI International Histocompatibility Workshop and Conference
Philip A Dyer
J Med Genet 1993; 30: 799-800. doi:10.1136/jmg.30.9.799 [PDF] [Request Permissions]

Catalog of Prenatally Diagnosed Conditions
N R Dennis
J Med Genet 1993; 30: 800. doi:10.1136/jmg.30.9.800 [PDF] [Request Permissions]

Methodology for Genetic Studies of Twins and Families
Anita Thapar
J Med Genet 1993; 30: 800. doi:10.1136/jmg.30.9.800-a [PDF] [Request Permissions]

Research Article

Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.
N Tommerup
J Med Genet 1993; 30: 713-727. doi:10.1136/jmg.30.9.713 [PDF] [Request Permissions]

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups.
L V Nicholson, M A Johnson, K M Bushby, D Gardner-Medwin, A Curtis, I B Ginjaar, J T den Dunnen, J L Welch, T J Butler, and E Bakker
J Med Genet 1993; 30: 728-736. doi:10.1136/jmg.30.9.728 [Abstract] [PDF] [Request Permissions]

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients.
L V Nicholson, M A Johnson, K M Bushby, D Gardner-Medwin, A Curtis, I B Ginjaar, J T den Dunnen, J L Welch, T J Butler, and E Bakker
J Med Genet 1993; 30: 737-744. doi:10.1136/jmg.30.9.737 [Abstract] [PDF] [Request Permissions]

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis.
L V Nicholson, M A Johnson, K M Bushby, D Gardner-Medwin, A Curtis, I B Ginjaar, J T den Dunnen, J L Welch, T J Butler, and E Bakker
J Med Genet 1993; 30: 745-751. doi:10.1136/jmg.30.9.745 [Abstract] [PDF] [Request Permissions]

Epidermal mosaicism and Blaschko's lines.
C Moss, S Larkins, M Stacey, A Blight, P A Farndon, and E V Davison
J Med Genet 1993; 30: 752-755. doi:10.1136/jmg.30.9.752 [Abstract] [PDF] [Request Permissions]

Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.
W P Robinson, J Wagstaff, F Bernasconi, C Baccichetti, L Artifoni, E Franzoni, L Suslak, L Y Shih, H Aviv, and A A Schinzel
J Med Genet 1993; 30: 756-760. doi:10.1136/jmg.30.9.756 [Abstract] [PDF] [Request Permissions]

Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.
B B de Vries, J P Fryns, M G Butler, F Canziani, E Wesby-van Swaay, J O van Hemel, B A Oostra, D J Halley, and M F Niermeijer
J Med Genet 1993; 30: 761-766. doi:10.1136/jmg.30.9.761 [Abstract] [PDF] [Request Permissions]

Mutational screening of the Wilms's tumour gene, WT1, in males with genital abnormalities.
P A Clarkson, H R Davies, D M Williams, R Chaudhary, I A Hughes, and M N Patterson
J Med Genet 1993; 30: 767-772. doi:10.1136/jmg.30.9.767 [Abstract] [PDF] [Request Permissions]

Exclusion of candidate genes from a role in cleft lip with or without cleft palate: linkage and association studies.
G M Vintiner, K K Lo, S E Holder, R M Winter, and S Malcolm
J Med Genet 1993; 30: 773-778. doi:10.1136/jmg.30.9.773 [Abstract] [PDF] [Request Permissions]

Nager acrofacial dysostosis.
M T McDonald and J L Gorski
J Med Genet 1993; 30: 779-782. doi:10.1136/jmg.30.9.779 [PDF] [Request Permissions]

Hypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent 'pseudomosaicism' at amniocentesis.
D Jenkins, K Martin, and I D Young
J Med Genet 1993; 30: 783-784. doi:10.1136/jmg.30.9.783 [Abstract] [PDF] [Request Permissions]

Prenatal diagnosis of a hypermethylated full fragile X mutation in chorionic villi of a male fetus.
K Suzumori, M Yamauchi, N Seki, I Kondo, and T Hori
J Med Genet 1993; 30: 785-787. doi:10.1136/jmg.30.9.785 [Abstract] [PDF] [Request Permissions]

Congenital heart malformation in Yunis-Varón syndrome.
L C Adès, L L Morris, M Richardson, C Pearson, and E A Haan
J Med Genet 1993; 30: 788-792. doi:10.1136/jmg.30.9.788 [Abstract] [PDF] [Request Permissions]

Two sibs with cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects: a new recessive syndrome?
A Seres-Santamaria, J L Arimany, and F Muñiz
J Med Genet 1993; 30: 793-795. doi:10.1136/jmg.30.9.793 [Abstract] [PDF] [Request Permissions]

Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H.
T Bienvenu, C Beldjord, M Adjiman, and J C Kaplan
J Med Genet 1993; 30: 797. doi:10.1136/jmg.30.9.797 [PDF] [Request Permissions]

Limb/pelvis/uterus-hypoplasia/aplasia syndrome.
A S Teebi
J Med Genet 1993; 30: 797. doi:10.1136/jmg.30.9.797-a [PDF] [Request Permissions]

Molecular characterisation of beta thalassaemia heterozygotes in Brazil.
C S Martins, A S Ramalho, M F Sonati, M S Gonçalves, and F F Costa
J Med Genet 1993; 30: 797-798. doi:10.1136/jmg.30.9.797-b [PDF] [Request Permissions]

Autozygosity mapping, complex consanguinity, and autosomal recessive disorders.
R F Mueller and D T Bishop
J Med Genet 1993; 30: 798-799. doi:10.1136/jmg.30.9.798 [PDF] [Request Permissions]

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	Medical genetics: advances in brief: Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A Andrew Wilkie J Med Genet 1993; 30: 796. doi:10.1136/jmg.30.9.796 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Identification of the von Hippel-Lindau disease tumour suppressor gene John C K Barber J Med Genet 1993; 30: 796. doi:10.1136/jmg.30.9.796-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia W Reardon J Med Genet 1993; 30: 796. doi:10.1136/jmg.30.9.796-b [PDF] [Request Permissions]

	Medical genetics: advances in brief Andrew Norman J Med Genet 1993; 30: 796. doi:10.1136/jmg.30.9.796-c [PDF] [Request Permissions]

	HLA 1991, Proceedings of the XI International Histocompatibility Workshop and Conference Philip A Dyer J Med Genet 1993; 30: 799-800. doi:10.1136/jmg.30.9.799 [PDF] [Request Permissions]

	Catalog of Prenatally Diagnosed Conditions N R Dennis J Med Genet 1993; 30: 800. doi:10.1136/jmg.30.9.800 [PDF] [Request Permissions]

	Methodology for Genetic Studies of Twins and Families Anita Thapar J Med Genet 1993; 30: 800. doi:10.1136/jmg.30.9.800-a [PDF] [Request Permissions]

	Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders. N Tommerup J Med Genet 1993; 30: 713-727. doi:10.1136/jmg.30.9.713 [PDF] [Request Permissions]

	Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups. L V Nicholson, M A Johnson, K M Bushby, D Gardner-Medwin, A Curtis, I B Ginjaar, J T den Dunnen, J L Welch, T J Butler, and E Bakker J Med Genet 1993; 30: 728-736. doi:10.1136/jmg.30.9.728 [Abstract] [PDF] [Request Permissions]

	Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients. L V Nicholson, M A Johnson, K M Bushby, D Gardner-Medwin, A Curtis, I B Ginjaar, J T den Dunnen, J L Welch, T J Butler, and E Bakker J Med Genet 1993; 30: 737-744. doi:10.1136/jmg.30.9.737 [Abstract] [PDF] [Request Permissions]

	Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis. L V Nicholson, M A Johnson, K M Bushby, D Gardner-Medwin, A Curtis, I B Ginjaar, J T den Dunnen, J L Welch, T J Butler, and E Bakker J Med Genet 1993; 30: 745-751. doi:10.1136/jmg.30.9.745 [Abstract] [PDF] [Request Permissions]

	Epidermal mosaicism and Blaschko's lines. C Moss, S Larkins, M Stacey, A Blight, P A Farndon, and E V Davison J Med Genet 1993; 30: 752-755. doi:10.1136/jmg.30.9.752 [Abstract] [PDF] [Request Permissions]

	Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome. W P Robinson, J Wagstaff, F Bernasconi, C Baccichetti, L Artifoni, E Franzoni, L Suslak, L Y Shih, H Aviv, and A A Schinzel J Med Genet 1993; 30: 756-760. doi:10.1136/jmg.30.9.756 [Abstract] [PDF] [Request Permissions]

	Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. B B de Vries, J P Fryns, M G Butler, F Canziani, E Wesby-van Swaay, J O van Hemel, B A Oostra, D J Halley, and M F Niermeijer J Med Genet 1993; 30: 761-766. doi:10.1136/jmg.30.9.761 [Abstract] [PDF] [Request Permissions]

	Mutational screening of the Wilms's tumour gene, WT1, in males with genital abnormalities. P A Clarkson, H R Davies, D M Williams, R Chaudhary, I A Hughes, and M N Patterson J Med Genet 1993; 30: 767-772. doi:10.1136/jmg.30.9.767 [Abstract] [PDF] [Request Permissions]

	Exclusion of candidate genes from a role in cleft lip with or without cleft palate: linkage and association studies. G M Vintiner, K K Lo, S E Holder, R M Winter, and S Malcolm J Med Genet 1993; 30: 773-778. doi:10.1136/jmg.30.9.773 [Abstract] [PDF] [Request Permissions]

	Nager acrofacial dysostosis. M T McDonald and J L Gorski J Med Genet 1993; 30: 779-782. doi:10.1136/jmg.30.9.779 [PDF] [Request Permissions]

	Hypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent 'pseudomosaicism' at amniocentesis. D Jenkins, K Martin, and I D Young J Med Genet 1993; 30: 783-784. doi:10.1136/jmg.30.9.783 [Abstract] [PDF] [Request Permissions]

	Prenatal diagnosis of a hypermethylated full fragile X mutation in chorionic villi of a male fetus. K Suzumori, M Yamauchi, N Seki, I Kondo, and T Hori J Med Genet 1993; 30: 785-787. doi:10.1136/jmg.30.9.785 [Abstract] [PDF] [Request Permissions]

	Congenital heart malformation in Yunis-Varón syndrome. L C Adès, L L Morris, M Richardson, C Pearson, and E A Haan J Med Genet 1993; 30: 788-792. doi:10.1136/jmg.30.9.788 [Abstract] [PDF] [Request Permissions]

	Two sibs with cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects: a new recessive syndrome? A Seres-Santamaria, J L Arimany, and F Muñiz J Med Genet 1993; 30: 793-795. doi:10.1136/jmg.30.9.793 [Abstract] [PDF] [Request Permissions]

	Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H. T Bienvenu, C Beldjord, M Adjiman, and J C Kaplan J Med Genet 1993; 30: 797. doi:10.1136/jmg.30.9.797 [PDF] [Request Permissions]

	Limb/pelvis/uterus-hypoplasia/aplasia syndrome. A S Teebi J Med Genet 1993; 30: 797. doi:10.1136/jmg.30.9.797-a [PDF] [Request Permissions]

	Molecular characterisation of beta thalassaemia heterozygotes in Brazil. C S Martins, A S Ramalho, M F Sonati, M S Gonçalves, and F F Costa J Med Genet 1993; 30: 797-798. doi:10.1136/jmg.30.9.797-b [PDF] [Request Permissions]

	Autozygosity mapping, complex consanguinity, and autosomal recessive disorders. R F Mueller and D T Bishop J Med Genet 1993; 30: 798-799. doi:10.1136/jmg.30.9.798 [PDF] [Request Permissions]