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August 1997 (Volume 34, Number 8). [Index by author]

		Abstracts Book Reviews Research Article

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Abstracts

Medical genetics: advances in brief: The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.
Frances Flinter
J Med Genet 1997; 34: 700. doi:10.1136/jmg.34.8.700 [PDF] [Request Permissions]

Medical genetics: advances in brief
David O Robinson
J Med Genet 1997; 34: 700. doi:10.1136/jmg.34.8.700-a [PDF] [Request Permissions]

Medical genetics: advances in brief
Evan Reid
J Med Genet 1997; 34: 700. doi:10.1136/jmg.34.8.700-b [PDF] [Request Permissions]

Book Reviews

The Child with Multiple Birth Defects
Evan Reid
J Med Genet 1997; 34: 703. doi:10.1136/jmg.34.8.703 [PDF] [Request Permissions]

Subcellular Biochemistry
J E Wraith
J Med Genet 1997; 34: 703. doi:10.1136/jmg.34.8.703-a [PDF] [Request Permissions]

Cultural and Ethnic Diversity. A Guide for Genetics Professionals
Ian Ellis
J Med Genet 1997; 34: 703. doi:10.1136/jmg.34.8.703-b [PDF] [Request Permissions]

Genetic Disorders among Arab Populations
D F Roberts
J Med Genet 1997; 34: 704. doi:10.1136/jmg.34.8.704 [PDF] [Request Permissions]

Research Article

Localisation of a gene causing endocrine neoplasia to a 4 cM region on chromosome 1p35-p36.
C Williamson, A A Pannett, J T Pang, C Wooding, M McCarthy, M N Sheppard, J Monson, R N Clayton, and R V Thakker
J Med Genet 1997; 34: 617-619. doi:10.1136/jmg.34.8.617 [Abstract] [PDF] [Request Permissions]

RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.
S Kohl, M Christ-Adler, E Apfelstedt-Sylla, U Kellner, A Eckstein, E Zrenner, and B Wissinger
J Med Genet 1997; 34: 620-626. doi:10.1136/jmg.34.8.620 [Abstract] [PDF] [Request Permissions]

The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing.
C B Kunst, E P Leeflang, J C Iber, N Arnheim, and S T Warren
J Med Genet 1997; 34: 627-631. doi:10.1136/jmg.34.8.627 [Abstract] [PDF] [Request Permissions]

Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
W Reardon, D Wilkes, P Rutland, L J Pulleyn, S Malcolm, J C Dean, R D Evans, B M Jones, R Hayward, C M Hall, N C Nevin, M Baraister, and R M Winter
J Med Genet 1997; 34: 632-636. doi:10.1136/jmg.34.8.632 [Abstract] [PDF] [Request Permissions]

Developmental enamel defects in tuberous sclerosis: a clinical genetic marker?
N Flanagan, W J O'Connor, B McCartan, S Miller, J McMenamin, and R Watson
J Med Genet 1997; 34: 637-639. doi:10.1136/jmg.34.8.637 [Abstract] [PDF] [Request Permissions]

Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.
K F Doheny, H E McDermid, K Harum, G H Thomas, and G V Raymond
J Med Genet 1997; 34: 640-644. doi:10.1136/jmg.34.8.640 [Abstract] [PDF] [Request Permissions]

De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes.
J E Allanson, R C Hennekam, and M Ireland
J Med Genet 1997; 34: 645-650. doi:10.1136/jmg.34.8.645 [Abstract] [PDF] [Request Permissions]

Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.
H L Gilbert, J L Buxton, C T Chan, T McKay, S Cottrell, S Ramsden, R M Winter, M E Pembrey, and S Malcolm
J Med Genet 1997; 34: 651-655. doi:10.1136/jmg.34.8.651 [Abstract] [PDF] [Request Permissions]

Waardenburg syndrome.
A P Read and V E Newton
J Med Genet 1997; 34: 656-665. doi:10.1136/jmg.34.8.656 [Abstract] [PDF] [Request Permissions]

Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder.
D R FitzPatrick, L Strain, A E Thomas, D G Barr, A Todd, N M Smith, and W G Scobie
J Med Genet 1997; 34: 666-669. doi:10.1136/jmg.34.8.666 [Abstract] [PDF] [Request Permissions]

Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.
N Okamoto, Y Wada, and M Goto
J Med Genet 1997; 34: 670-671. doi:10.1136/jmg.34.8.670 [Abstract] [PDF] [Request Permissions]

Assessment of French patients with LPL deficiency for French Canadian mutations.
L Foubert, J L De Gennes, J P Lagarde, E Ehrenborg, A Raisonnier, J P Girardet, M R Hayden, and P Benlian
J Med Genet 1997; 34: 672-675. doi:10.1136/jmg.34.8.672 [Abstract] [PDF] [Request Permissions]

"Cutis tricolor": congenital hyper- and hypopigmented macules associated with a sporadic multisystem birth defect: an unusual example of twin spotting?
R Happle, G Barbi, D Eckert, and I Kennerknecht
J Med Genet 1997; 34: 676-678. doi:10.1136/jmg.34.8.676 [Abstract] [PDF] [Request Permissions]

Prenatal diagnosis of 22q11 deletions: a series of five cases with congenital heart defects.
F L Raymond, J M Simpson, C M Mackie, and G K Sharland
J Med Genet 1997; 34: 679-682. doi:10.1136/jmg.34.8.679 [Abstract] [PDF] [Request Permissions]

Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.
A Golla, P Lichmer, S von Gernet, A Winterpacht, J Fairley, J Murken, and S Schuffenhauer
J Med Genet 1997; 34: 683-684. doi:10.1136/jmg.34.8.683 [Abstract] [PDF] [Request Permissions]

Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.
K A Brown, L I al-Gazali, L M Moynihan, N J Lench, A F Markham, and R F Mueller
J Med Genet 1997; 34: 685-687. doi:10.1136/jmg.34.8.685 [Abstract] [PDF] [Request Permissions]

Monozygotic twins discordant for Aicardi syndrome.
T Costa, W Greer, G Rysiecki, J R Buncic, and P N Ray
J Med Genet 1997; 34: 688-691. doi:10.1136/jmg.34.8.688 [Abstract] [PDF] [Request Permissions]

Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12.
A Schinzel, C P Braegger, L Brecevic, F Dutly, and F Binkert
J Med Genet 1997; 34: 692-695. doi:10.1136/jmg.34.8.692 [Abstract] [PDF] [Request Permissions]

Familial four breakpoint complex chromosomal rearrangement as a cause of monosomy 9p22-->pter and trisomy 10p11.2-->pter and 11q21 analysed by dual and triple colour FISH.
P Stankiewicz, E Kostyk, E Bocian, H Stanczak, J Parczewska, E Piatkowska, T Mazurczak, and J J Pietrzyk
J Med Genet 1997; 34: 696-699. doi:10.1136/jmg.34.8.696 [Abstract] [PDF] [Request Permissions]

Juvenile onset Huntington's disease in an Omani child with asymptomatic, at risk parents.
E M Scrimgeour, R L Koul, P R Chand, J K Tharakan, and C A Frew
J Med Genet 1997; 34: 701. doi:10.1136/jmg.34.8.701 [PDF] [Request Permissions]

Mirror hands and feet.
M A van Steensel
J Med Genet 1997; 34: 701-702. doi:10.1136/jmg.34.8.701-a [PDF] [Request Permissions]

A study of brothers with Klinefelter syndrome.
C G Woods, J Noble, and A R Falconer
J Med Genet 1997; 34: 702. doi:10.1136/jmg.34.8.702 [PDF] [Request Permissions]

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	Medical genetics: advances in brief: The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. Frances Flinter J Med Genet 1997; 34: 700. doi:10.1136/jmg.34.8.700 [PDF] [Request Permissions]

	Medical genetics: advances in brief David O Robinson J Med Genet 1997; 34: 700. doi:10.1136/jmg.34.8.700-a [PDF] [Request Permissions]

	Medical genetics: advances in brief Evan Reid J Med Genet 1997; 34: 700. doi:10.1136/jmg.34.8.700-b [PDF] [Request Permissions]

	The Child with Multiple Birth Defects Evan Reid J Med Genet 1997; 34: 703. doi:10.1136/jmg.34.8.703 [PDF] [Request Permissions]

	Subcellular Biochemistry J E Wraith J Med Genet 1997; 34: 703. doi:10.1136/jmg.34.8.703-a [PDF] [Request Permissions]

	Cultural and Ethnic Diversity. A Guide for Genetics Professionals Ian Ellis J Med Genet 1997; 34: 703. doi:10.1136/jmg.34.8.703-b [PDF] [Request Permissions]

	Genetic Disorders among Arab Populations D F Roberts J Med Genet 1997; 34: 704. doi:10.1136/jmg.34.8.704 [PDF] [Request Permissions]

	Localisation of a gene causing endocrine neoplasia to a 4 cM region on chromosome 1p35-p36. C Williamson, A A Pannett, J T Pang, C Wooding, M McCarthy, M N Sheppard, J Monson, R N Clayton, and R V Thakker J Med Genet 1997; 34: 617-619. doi:10.1136/jmg.34.8.617 [Abstract] [PDF] [Request Permissions]

	RDS/peripherin gene mutations are frequent causes of central retinal dystrophies. S Kohl, M Christ-Adler, E Apfelstedt-Sylla, U Kellner, A Eckstein, E Zrenner, and B Wissinger J Med Genet 1997; 34: 620-626. doi:10.1136/jmg.34.8.620 [Abstract] [PDF] [Request Permissions]

	The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing. C B Kunst, E P Leeflang, J C Iber, N Arnheim, and S T Warren J Med Genet 1997; 34: 627-631. doi:10.1136/jmg.34.8.627 [Abstract] [PDF] [Request Permissions]

	Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. W Reardon, D Wilkes, P Rutland, L J Pulleyn, S Malcolm, J C Dean, R D Evans, B M Jones, R Hayward, C M Hall, N C Nevin, M Baraister, and R M Winter J Med Genet 1997; 34: 632-636. doi:10.1136/jmg.34.8.632 [Abstract] [PDF] [Request Permissions]

	Developmental enamel defects in tuberous sclerosis: a clinical genetic marker? N Flanagan, W J O'Connor, B McCartan, S Miller, J McMenamin, and R Watson J Med Genet 1997; 34: 637-639. doi:10.1136/jmg.34.8.637 [Abstract] [PDF] [Request Permissions]

	Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients. K F Doheny, H E McDermid, K Harum, G H Thomas, and G V Raymond J Med Genet 1997; 34: 640-644. doi:10.1136/jmg.34.8.640 [Abstract] [PDF] [Request Permissions]

	De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes. J E Allanson, R C Hennekam, and M Ireland J Med Genet 1997; 34: 645-650. doi:10.1136/jmg.34.8.645 [Abstract] [PDF] [Request Permissions]

	Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families. H L Gilbert, J L Buxton, C T Chan, T McKay, S Cottrell, S Ramsden, R M Winter, M E Pembrey, and S Malcolm J Med Genet 1997; 34: 651-655. doi:10.1136/jmg.34.8.651 [Abstract] [PDF] [Request Permissions]

	Waardenburg syndrome. A P Read and V E Newton J Med Genet 1997; 34: 656-665. doi:10.1136/jmg.34.8.656 [Abstract] [PDF] [Request Permissions]

	Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder. D R FitzPatrick, L Strain, A E Thomas, D G Barr, A Todd, N M Smith, and W G Scobie J Med Genet 1997; 34: 666-669. doi:10.1136/jmg.34.8.666 [Abstract] [PDF] [Request Permissions]

	Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM. N Okamoto, Y Wada, and M Goto J Med Genet 1997; 34: 670-671. doi:10.1136/jmg.34.8.670 [Abstract] [PDF] [Request Permissions]

	Assessment of French patients with LPL deficiency for French Canadian mutations. L Foubert, J L De Gennes, J P Lagarde, E Ehrenborg, A Raisonnier, J P Girardet, M R Hayden, and P Benlian J Med Genet 1997; 34: 672-675. doi:10.1136/jmg.34.8.672 [Abstract] [PDF] [Request Permissions]

	"Cutis tricolor": congenital hyper- and hypopigmented macules associated with a sporadic multisystem birth defect: an unusual example of twin spotting? R Happle, G Barbi, D Eckert, and I Kennerknecht J Med Genet 1997; 34: 676-678. doi:10.1136/jmg.34.8.676 [Abstract] [PDF] [Request Permissions]

	Prenatal diagnosis of 22q11 deletions: a series of five cases with congenital heart defects. F L Raymond, J M Simpson, C M Mackie, and G K Sharland J Med Genet 1997; 34: 679-682. doi:10.1136/jmg.34.8.679 [Abstract] [PDF] [Request Permissions]

	Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family. A Golla, P Lichmer, S von Gernet, A Winterpacht, J Fairley, J Murken, and S Schuffenhauer J Med Genet 1997; 34: 683-684. doi:10.1136/jmg.34.8.683 [Abstract] [PDF] [Request Permissions]

	Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1. K A Brown, L I al-Gazali, L M Moynihan, N J Lench, A F Markham, and R F Mueller J Med Genet 1997; 34: 685-687. doi:10.1136/jmg.34.8.685 [Abstract] [PDF] [Request Permissions]

	Monozygotic twins discordant for Aicardi syndrome. T Costa, W Greer, G Rysiecki, J R Buncic, and P N Ray J Med Genet 1997; 34: 688-691. doi:10.1136/jmg.34.8.688 [Abstract] [PDF] [Request Permissions]

	Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12. A Schinzel, C P Braegger, L Brecevic, F Dutly, and F Binkert J Med Genet 1997; 34: 692-695. doi:10.1136/jmg.34.8.692 [Abstract] [PDF] [Request Permissions]

	Familial four breakpoint complex chromosomal rearrangement as a cause of monosomy 9p22-->pter and trisomy 10p11.2-->pter and 11q21 analysed by dual and triple colour FISH. P Stankiewicz, E Kostyk, E Bocian, H Stanczak, J Parczewska, E Piatkowska, T Mazurczak, and J J Pietrzyk J Med Genet 1997; 34: 696-699. doi:10.1136/jmg.34.8.696 [Abstract] [PDF] [Request Permissions]

	Juvenile onset Huntington's disease in an Omani child with asymptomatic, at risk parents. E M Scrimgeour, R L Koul, P R Chand, J K Tharakan, and C A Frew J Med Genet 1997; 34: 701. doi:10.1136/jmg.34.8.701 [PDF] [Request Permissions]

	Mirror hands and feet. M A van Steensel J Med Genet 1997; 34: 701-702. doi:10.1136/jmg.34.8.701-a [PDF] [Request Permissions]

	A study of brothers with Klinefelter syndrome. C G Woods, J Noble, and A R Falconer J Med Genet 1997; 34: 702. doi:10.1136/jmg.34.8.702 [PDF] [Request Permissions]