J Med Genet -- Table of Contents (28 [12])

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December 1991 (Volume 28, Number 12). [Index by author]

		Book Reviews Research Article

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Book Reviews

Syndromes of the Head and Neck
Michael J Aldred
J Med Genet 1991; 28: 888. doi:10.1136/jmg.28.12.888 [PDF] [Request Permissions]

A Dictionary of Genetics
William Reardon
J Med Genet 1991; 28: 888. doi:10.1136/jmg.28.12.888-a [PDF] [Request Permissions]

Research Article

The fragile X syndrome.
P A Jacobs
J Med Genet 1991; 28: 809-810. doi:10.1136/jmg.28.12.809 [PDF] [Request Permissions]

Cloning of the gene for the fragile X syndrome: implications for the clinical geneticist.
J M Connor
J Med Genet 1991; 28: 811-813. doi:10.1136/jmg.28.12.811 [PDF] [Request Permissions]

Molecular genetics of fragile X: a cytogenetics viewpoint. Report of the Fifth International Symposium on X Linked Mental Retardation, Strasbourg, France, 12 to 16 August 1991 (organiser Dr J-L Mandel).
T Webb
J Med Genet 1991; 28: 814-817. doi:10.1136/jmg.28.12.814 [PDF] [Request Permissions]

Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.
R I Richards, K Holman, H Kozman, E Kremer, M Lynch, M Pritchard, S Yu, J Mulley, and G R Sutherland
J Med Genet 1991; 28: 818-823. doi:10.1136/jmg.28.12.818 [Abstract] [PDF] [Request Permissions]

Genotype prediction in the fragile X syndrome.
M C Hirst, Y Nakahori, S J Knight, C Schwartz, S N Thibodeau, A Roche, T J Flint, J M Connor, J P Fryns, and K E Davies
J Med Genet 1991; 28: 824-829. doi:10.1136/jmg.28.12.824 [Abstract] [PDF] [Request Permissions]

Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation.
F Rousseau, D Heitz, I Oberlé, and J L Mandel
J Med Genet 1991; 28: 830-836. doi:10.1136/jmg.28.12.830 [Abstract] [PDF] [Request Permissions]

A single lymphocyte culture for fragile X induction and prometaphase chromosome analysis.
M J Griffiths and M C Strachan
J Med Genet 1991; 28: 837-839. doi:10.1136/jmg.28.12.837 [Abstract] [PDF] [Request Permissions]

Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele.
D O Sillence, A A Chiodo, P E Campbell, and W G Cole
J Med Genet 1991; 28: 840-845. doi:10.1136/jmg.28.12.840 [Abstract] [PDF] [Request Permissions]

The midline craniofacial skeleton in holoprosencephalic fetuses.
I Kjaer, J W Keeling, and N Graem
J Med Genet 1991; 28: 846-855. doi:10.1136/jmg.28.12.846 [Abstract] [PDF] [Request Permissions]

Determination of Duchenne muscular dystrophy carrier status by single strand conformation polymorphism analysis of deleted regions of the dystrophin locus.
R I Richards and K Friend
J Med Genet 1991; 28: 856-859. doi:10.1136/jmg.28.12.856 [Abstract] [PDF] [Request Permissions]

Becker muscular dystrophy patient with a large intragenic dystrophin deletion: implications for functional minigenes and gene therapy.
D R Love, T J Flint, S A Genet, H R Middleton-Price, and K E Davies
J Med Genet 1991; 28: 860-864. doi:10.1136/jmg.28.12.860 [Abstract] [PDF] [Request Permissions]

Use of DNA haplotype analysis in diagnosis of familial hypercholesterolaemia in 31 German families.
H Schuster, G Rauh, C Gerl, C Keller, G Wolfram, and N Zöllner
J Med Genet 1991; 28: 865-870. doi:10.1136/jmg.28.12.865 [Abstract] [PDF] [Request Permissions]

Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency.
S Strautnieks, P Rutland, and S Malcolm
J Med Genet 1991; 28: 871-874. doi:10.1136/jmg.28.12.871 [Abstract] [PDF] [Request Permissions]

A cystic fibrosis patient who is homozygous for the G85E mutation has very mild disease.
G Chalkley and A Harris
J Med Genet 1991; 28: 875-877. doi:10.1136/jmg.28.12.875 [PDF] [Request Permissions]

A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.
M Schloesser, S Arleth, U Lenz, R M Bertele, and J Reiss
J Med Genet 1991; 28: 878-880. doi:10.1136/jmg.28.12.878 [Abstract] [PDF] [Request Permissions]

Multiple exostoses in a patient with t(8;11)(q24.11;p15.5).
R F Ogle, P Dalzell, G Turner, D Wass, and M Y Yip
J Med Genet 1991; 28: 881-883. doi:10.1136/jmg.28.12.881 [Abstract] [PDF] [Request Permissions]

Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy.
J H Begeer, F A Scholte, and A J van Essen
J Med Genet 1991; 28: 884-885. doi:10.1136/jmg.28.12.884 [Abstract] [PDF] [Request Permissions]

Phenotypic expression of the first liveborn 68,XX triploid newborn.
P Merlob, N Naor, and M Shohat
J Med Genet 1991; 28: 886-887. doi:10.1136/jmg.28.12.886 [PDF] [Request Permissions]

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	Syndromes of the Head and Neck Michael J Aldred J Med Genet 1991; 28: 888. doi:10.1136/jmg.28.12.888 [PDF] [Request Permissions]

	A Dictionary of Genetics William Reardon J Med Genet 1991; 28: 888. doi:10.1136/jmg.28.12.888-a [PDF] [Request Permissions]

	The fragile X syndrome. P A Jacobs J Med Genet 1991; 28: 809-810. doi:10.1136/jmg.28.12.809 [PDF] [Request Permissions]

	Cloning of the gene for the fragile X syndrome: implications for the clinical geneticist. J M Connor J Med Genet 1991; 28: 811-813. doi:10.1136/jmg.28.12.811 [PDF] [Request Permissions]

	Molecular genetics of fragile X: a cytogenetics viewpoint. Report of the Fifth International Symposium on X Linked Mental Retardation, Strasbourg, France, 12 to 16 August 1991 (organiser Dr J-L Mandel). T Webb J Med Genet 1991; 28: 814-817. doi:10.1136/jmg.28.12.814 [PDF] [Request Permissions]

	Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site. R I Richards, K Holman, H Kozman, E Kremer, M Lynch, M Pritchard, S Yu, J Mulley, and G R Sutherland J Med Genet 1991; 28: 818-823. doi:10.1136/jmg.28.12.818 [Abstract] [PDF] [Request Permissions]

	Genotype prediction in the fragile X syndrome. M C Hirst, Y Nakahori, S J Knight, C Schwartz, S N Thibodeau, A Roche, T J Flint, J M Connor, J P Fryns, and K E Davies J Med Genet 1991; 28: 824-829. doi:10.1136/jmg.28.12.824 [Abstract] [PDF] [Request Permissions]

	Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation. F Rousseau, D Heitz, I Oberlé, and J L Mandel J Med Genet 1991; 28: 830-836. doi:10.1136/jmg.28.12.830 [Abstract] [PDF] [Request Permissions]

	A single lymphocyte culture for fragile X induction and prometaphase chromosome analysis. M J Griffiths and M C Strachan J Med Genet 1991; 28: 837-839. doi:10.1136/jmg.28.12.837 [Abstract] [PDF] [Request Permissions]

	Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele. D O Sillence, A A Chiodo, P E Campbell, and W G Cole J Med Genet 1991; 28: 840-845. doi:10.1136/jmg.28.12.840 [Abstract] [PDF] [Request Permissions]

	The midline craniofacial skeleton in holoprosencephalic fetuses. I Kjaer, J W Keeling, and N Graem J Med Genet 1991; 28: 846-855. doi:10.1136/jmg.28.12.846 [Abstract] [PDF] [Request Permissions]

	Determination of Duchenne muscular dystrophy carrier status by single strand conformation polymorphism analysis of deleted regions of the dystrophin locus. R I Richards and K Friend J Med Genet 1991; 28: 856-859. doi:10.1136/jmg.28.12.856 [Abstract] [PDF] [Request Permissions]

	Becker muscular dystrophy patient with a large intragenic dystrophin deletion: implications for functional minigenes and gene therapy. D R Love, T J Flint, S A Genet, H R Middleton-Price, and K E Davies J Med Genet 1991; 28: 860-864. doi:10.1136/jmg.28.12.860 [Abstract] [PDF] [Request Permissions]

	Use of DNA haplotype analysis in diagnosis of familial hypercholesterolaemia in 31 German families. H Schuster, G Rauh, C Gerl, C Keller, G Wolfram, and N Zöllner J Med Genet 1991; 28: 865-870. doi:10.1136/jmg.28.12.865 [Abstract] [PDF] [Request Permissions]

	Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency. S Strautnieks, P Rutland, and S Malcolm J Med Genet 1991; 28: 871-874. doi:10.1136/jmg.28.12.871 [Abstract] [PDF] [Request Permissions]

	A cystic fibrosis patient who is homozygous for the G85E mutation has very mild disease. G Chalkley and A Harris J Med Genet 1991; 28: 875-877. doi:10.1136/jmg.28.12.875 [PDF] [Request Permissions]

	A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1. M Schloesser, S Arleth, U Lenz, R M Bertele, and J Reiss J Med Genet 1991; 28: 878-880. doi:10.1136/jmg.28.12.878 [Abstract] [PDF] [Request Permissions]

	Multiple exostoses in a patient with t(8;11)(q24.11;p15.5). R F Ogle, P Dalzell, G Turner, D Wass, and M Y Yip J Med Genet 1991; 28: 881-883. doi:10.1136/jmg.28.12.881 [Abstract] [PDF] [Request Permissions]

	Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy. J H Begeer, F A Scholte, and A J van Essen J Med Genet 1991; 28: 884-885. doi:10.1136/jmg.28.12.884 [Abstract] [PDF] [Request Permissions]

	Phenotypic expression of the first liveborn 68,XX triploid newborn. P Merlob, N Naor, and M Shohat J Med Genet 1991; 28: 886-887. doi:10.1136/jmg.28.12.886 [PDF] [Request Permissions]