J Med Genet -- Table of Contents (31 [10])

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October 1994 (Volume 31, Number 10). [Index by author]

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Abstracts

Medical genetics: advances in brief: Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1
Frances Flinter
J Med Genet 1994; 31: 818. doi:10.1136/jmg.31.10.818 [PDF] [Request Permissions]

Medical genetics: advances in brief: Acquisition of Pseudomonas cepacia at summer camps for cystic fibrosis
Jill Clayton-Smith
J Med Genet 1994; 31: 818. doi:10.1136/jmg.31.10.818-a [PDF] [Request Permissions]

Medical genetics: advances in brief: A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases
Frances Flinter
J Med Genet 1994; 31: 818. doi:10.1136/jmg.31.10.818-b [PDF] [Request Permissions]

Annotation

Syndrome of the month
Ian Young and Andrew Wilkie
J Med Genet 1994; 31: 744. doi:10.1136/jmg.31.10.744 [PDF] [Request Permissions]

Book Reviews

Molecular Genetics of Nervous System Tumours
Christopher Mitchell
J Med Genet 1994; 31: 821. doi:10.1136/jmg.31.10.821 [PDF] [Request Permissions]

Gene Targeting: A Practical Approach
Mark Hirst
J Med Genet 1994; 31: 821. doi:10.1136/jmg.31.10.821-a [PDF] [Request Permissions]

Molecular Genetic Medicine
Andrew Wilkie
J Med Genet 1994; 31: 821-822. doi:10.1136/jmg.31.10.821-b [PDF] [Request Permissions]

The Genetic Basis of Common Diseases
Peter S Harper
J Med Genet 1994; 31: 822. doi:10.1136/jmg.31.10.822 [PDF] [Request Permissions]

Research Article

The genetic testing of children.
T M Marteau
J Med Genet 1994; 31: 743. doi:10.1136/jmg.31.10.743 [PDF] [Request Permissions]

Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities.
M G Dunnill, A J Richards, G Milana, F Mollica, D Atherton, I Winship, M Farrall, L al-Imara, R A Eady, and F M Pope
J Med Genet 1994; 31: 745-748. doi:10.1136/jmg.31.10.745 [Abstract] [PDF] [Request Permissions]

Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.
R E Slatter, M Elliott, K Welham, M Carrera, P N Schofield, D E Barton, and E R Maher
J Med Genet 1994; 31: 749-753. doi:10.1136/jmg.31.10.749 [Abstract] [PDF] [Request Permissions]

X inactivation patterns in female monozygotic twins and their families.
E Watkiss, T Webb, G Rysiecki, N Girdler, E Hewett, and S Bundey
J Med Genet 1994; 31: 754-757. doi:10.1136/jmg.31.10.754 [Abstract] [PDF] [Request Permissions]

Cephalometric analysis of Rapp-Hodgkin syndrome.
T C Hart and S Kyrkanides
J Med Genet 1994; 31: 758-760. doi:10.1136/jmg.31.10.758 [Abstract] [PDF] [Request Permissions]

Phenotypic variation of tuberous sclerosis in a single extended kindred.
S L Smalley, F Burger, and M Smith
J Med Genet 1994; 31: 761-765. doi:10.1136/jmg.31.10.761 [Abstract] [PDF] [Request Permissions]

Absence of linkage between idiopathic dilated cardiomyopathy and candidate genes involved in the immune function in a large Italian pedigree.
M Krajinovic, L Mestroni, G M Severini, B Pinamonti, F Camerini, A Falaschi, and M Giacca
J Med Genet 1994; 31: 766-771. doi:10.1136/jmg.31.10.766 [Abstract] [PDF] [Request Permissions]

Osteocraniostenosis.
A Verloes, F Narcy, B Grattagliano, A L Delezoide, P Guibaud, J P Schaaps, M Le Merrer, and P Maroteaux
J Med Genet 1994; 31: 772-778. doi:10.1136/jmg.31.10.772 [Abstract] [PDF] [Request Permissions]

Albright's hereditary osteodystrophy.
L C Wilson and R C Trembath
J Med Genet 1994; 31: 779-784. doi:10.1136/jmg.31.10.779 [PDF] [Request Permissions]

The genetic testing of children. Working Party of the Clinical Genetics Society (UK)
A Clarke
J Med Genet 1994; 31: 785-797. doi:10.1136/jmg.31.10.785 [PDF] [Request Permissions]

Intrachromosomal triplication of 15q11-q13.
A A Schinzel, L Brecevic, F Bernasconi, F Binkert, F Berthet, A Wuilloud, and W P Robinson
J Med Genet 1994; 31: 798-803. doi:10.1136/jmg.31.10.798 [Abstract] [PDF] [Request Permissions]

A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia.
G Calabrese, P G Franchi, L Stuppia, R Mingarelli, C Rossi, L Ramenghi, M Marino, E Morizio, R Peila, and A Antonucci
J Med Genet 1994; 31: 804-806. doi:10.1136/jmg.31.10.804 [Abstract] [PDF] [Request Permissions]

Down-Turner syndrome: case report and review.
G J Van Buggenhout, B C Hamel, J C Trommelen, H Mieloo, and D F Smeets
J Med Genet 1994; 31: 807-810. doi:10.1136/jmg.31.10.807 [Abstract] [PDF] [Request Permissions]

Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.
E Nelis, V Timmerman, P De Jonghe, L Muylle, J J Martin, and C Van Broeckhoven
J Med Genet 1994; 31: 811-815. doi:10.1136/jmg.31.10.811 [Abstract] [PDF] [Request Permissions]

Chimaerism shown by cytogenetics and DNA polymorphism analysis.
A J Green, D E Barton, P Jenks, J Pearson, and J R Yates
J Med Genet 1994; 31: 816-817. doi:10.1136/jmg.31.10.816 [Abstract] [PDF] [Request Permissions]

Huntington's disease in two unrelated Arab kindreds and in an Afghani family resident in Saudi Arabia.
E M Scrimgeour, S A Tahoon, and T H Zawawi
J Med Genet 1994; 31: 819-820. doi:10.1136/jmg.31.10.819 [PDF] [Request Permissions]

The Prader-Willi-like phenotype in fragile X patients: a designation facilitating clinical (and molecular) differential diagnosis.
B B De Vries and M F Niermeijer
J Med Genet 1994; 31: 820. doi:10.1136/jmg.31.10.820 [PDF] [Request Permissions]

Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis syndrome.
J M Saraiva and H C Mota
J Med Genet 1994; 31: 820. doi:10.1136/jmg.31.10.820-a [PDF] [Request Permissions]

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	Medical genetics: advances in brief: Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1 Frances Flinter J Med Genet 1994; 31: 818. doi:10.1136/jmg.31.10.818 [PDF] [Request Permissions]

	*Medical genetics: advances in brief: Acquisition of Pseudomonas* cepacia at summer camps for cystic fibrosis** Jill Clayton-Smith J Med Genet 1994; 31: 818. doi:10.1136/jmg.31.10.818-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases Frances Flinter J Med Genet 1994; 31: 818. doi:10.1136/jmg.31.10.818-b [PDF] [Request Permissions]

	Syndrome of the month Ian Young and Andrew Wilkie J Med Genet 1994; 31: 744. doi:10.1136/jmg.31.10.744 [PDF] [Request Permissions]

	Molecular Genetics of Nervous System Tumours Christopher Mitchell J Med Genet 1994; 31: 821. doi:10.1136/jmg.31.10.821 [PDF] [Request Permissions]

	Gene Targeting: A Practical Approach Mark Hirst J Med Genet 1994; 31: 821. doi:10.1136/jmg.31.10.821-a [PDF] [Request Permissions]

	Molecular Genetic Medicine Andrew Wilkie J Med Genet 1994; 31: 821-822. doi:10.1136/jmg.31.10.821-b [PDF] [Request Permissions]

	The Genetic Basis of Common Diseases Peter S Harper J Med Genet 1994; 31: 822. doi:10.1136/jmg.31.10.822 [PDF] [Request Permissions]

	The genetic testing of children. T M Marteau J Med Genet 1994; 31: 743. doi:10.1136/jmg.31.10.743 [PDF] [Request Permissions]

	Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities. M G Dunnill, A J Richards, G Milana, F Mollica, D Atherton, I Winship, M Farrall, L al-Imara, R A Eady, and F M Pope J Med Genet 1994; 31: 745-748. doi:10.1136/jmg.31.10.745 [Abstract] [PDF] [Request Permissions]

	Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. R E Slatter, M Elliott, K Welham, M Carrera, P N Schofield, D E Barton, and E R Maher J Med Genet 1994; 31: 749-753. doi:10.1136/jmg.31.10.749 [Abstract] [PDF] [Request Permissions]

	X inactivation patterns in female monozygotic twins and their families. E Watkiss, T Webb, G Rysiecki, N Girdler, E Hewett, and S Bundey J Med Genet 1994; 31: 754-757. doi:10.1136/jmg.31.10.754 [Abstract] [PDF] [Request Permissions]

	Cephalometric analysis of Rapp-Hodgkin syndrome. T C Hart and S Kyrkanides J Med Genet 1994; 31: 758-760. doi:10.1136/jmg.31.10.758 [Abstract] [PDF] [Request Permissions]

	Phenotypic variation of tuberous sclerosis in a single extended kindred. S L Smalley, F Burger, and M Smith J Med Genet 1994; 31: 761-765. doi:10.1136/jmg.31.10.761 [Abstract] [PDF] [Request Permissions]

	Absence of linkage between idiopathic dilated cardiomyopathy and candidate genes involved in the immune function in a large Italian pedigree. M Krajinovic, L Mestroni, G M Severini, B Pinamonti, F Camerini, A Falaschi, and M Giacca J Med Genet 1994; 31: 766-771. doi:10.1136/jmg.31.10.766 [Abstract] [PDF] [Request Permissions]

	Osteocraniostenosis. A Verloes, F Narcy, B Grattagliano, A L Delezoide, P Guibaud, J P Schaaps, M Le Merrer, and P Maroteaux J Med Genet 1994; 31: 772-778. doi:10.1136/jmg.31.10.772 [Abstract] [PDF] [Request Permissions]

	Albright's hereditary osteodystrophy. L C Wilson and R C Trembath J Med Genet 1994; 31: 779-784. doi:10.1136/jmg.31.10.779 [PDF] [Request Permissions]

	The genetic testing of children. Working Party of the Clinical Genetics Society (UK) A Clarke J Med Genet 1994; 31: 785-797. doi:10.1136/jmg.31.10.785 [PDF] [Request Permissions]

	Intrachromosomal triplication of 15q11-q13. A A Schinzel, L Brecevic, F Bernasconi, F Binkert, F Berthet, A Wuilloud, and W P Robinson J Med Genet 1994; 31: 798-803. doi:10.1136/jmg.31.10.798 [Abstract] [PDF] [Request Permissions]

	A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia. G Calabrese, P G Franchi, L Stuppia, R Mingarelli, C Rossi, L Ramenghi, M Marino, E Morizio, R Peila, and A Antonucci J Med Genet 1994; 31: 804-806. doi:10.1136/jmg.31.10.804 [Abstract] [PDF] [Request Permissions]

	Down-Turner syndrome: case report and review. G J Van Buggenhout, B C Hamel, J C Trommelen, H Mieloo, and D F Smeets J Med Genet 1994; 31: 807-810. doi:10.1136/jmg.31.10.807 [Abstract] [PDF] [Request Permissions]

	Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B. E Nelis, V Timmerman, P De Jonghe, L Muylle, J J Martin, and C Van Broeckhoven J Med Genet 1994; 31: 811-815. doi:10.1136/jmg.31.10.811 [Abstract] [PDF] [Request Permissions]

	Chimaerism shown by cytogenetics and DNA polymorphism analysis. A J Green, D E Barton, P Jenks, J Pearson, and J R Yates J Med Genet 1994; 31: 816-817. doi:10.1136/jmg.31.10.816 [Abstract] [PDF] [Request Permissions]

	Huntington's disease in two unrelated Arab kindreds and in an Afghani family resident in Saudi Arabia. E M Scrimgeour, S A Tahoon, and T H Zawawi J Med Genet 1994; 31: 819-820. doi:10.1136/jmg.31.10.819 [PDF] [Request Permissions]

	The Prader-Willi-like phenotype in fragile X patients: a designation facilitating clinical (and molecular) differential diagnosis. B B De Vries and M F Niermeijer J Med Genet 1994; 31: 820. doi:10.1136/jmg.31.10.820 [PDF] [Request Permissions]

	Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis syndrome. J M Saraiva and H C Mota J Med Genet 1994; 31: 820. doi:10.1136/jmg.31.10.820-a [PDF] [Request Permissions]