J Med Genet -- Table of Contents (35 [5])

Subscribe here
Activate your subscription

Home > Volume 35, Number 5

Only Abstracts and PDFs available for this issue

Other Issues:
May 1998 (Volume 35, Number 5). [Index by author]

		Abstracts Book Reviews Research Article

Find articles in this issue containing these words: [Search ALL Issues]

Table of Contents (PDF) | Cover (PDF) | Administration (PDF)

To see an article, click its [Full Text] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstracts' button. To see one abstract at a time, click its [Abstract] link.

Abstracts

Medical genetics: advances in brief
Evan Reid
J Med Genet 1998; 35: 438. doi:10.1136/jmg.35.5.438 [PDF] [Request Permissions]

Medical genetics: advances in brief: Is lifespan determined in utero?
Sarah Slaney
J Med Genet 1998; 35: 438. doi:10.1136/jmg.35.5.438-a [PDF] [Request Permissions]

Medical genetics: advances in brief
Louise Wilson
J Med Genet 1998; 35: 438. doi:10.1136/jmg.35.5.438-b [PDF] [Request Permissions]

Book Reviews

Medical genetics: advances in brief: Tetrahydrobiopterin - Basic Biochemistry and Role in Human Disease.
A F Heeley
J Med Genet 1998; 35: 439. doi:10.1136/jmg.35.5.439 [PDF] [Request Permissions]

Genome Structure and Function: From Chromosome Characterization to Gene Technology
Mark C Hirst
J Med Genet 1998; 35: 439. doi:10.1136/jmg.35.5.439-a [PDF] [Request Permissions]

Culture, Kinship and Genes
Alison Shaw
J Med Genet 1998; 35: 439-440. doi:10.1136/jmg.35.5.439-b [PDF] [Request Permissions]

Hereditary Kidney Diseases
Frances Flinter
J Med Genet 1998; 35: 440. doi:10.1136/jmg.35.5.440 [PDF] [Request Permissions]

Research Article

Hereditary fructose intolerance.
M Ali, P Rellos, and T M Cox
J Med Genet 1998; 35: 353-365. doi:10.1136/jmg.35.5.353 [Abstract] [PDF] [Request Permissions]

A comparison of disease and gene frequencies of inborn errors of metabolism among different ethnic groups in the West Midlands, UK.
A C Hutchesson, S Bundey, M A Preece, S K Hall, and A Green
J Med Genet 1998; 35: 366-370. doi:10.1136/jmg.35.5.366 [Abstract] [PDF] [Request Permissions]

Prediction of liability to orofacial clefting using genetic and craniofacial data from parents.
P A Mossey, R Arngrimsson, J McColl, G M Vintiner, and J M Connor
J Med Genet 1998; 35: 371-378. doi:10.1136/jmg.35.5.371 [Abstract] [PDF] [Request Permissions]

Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 in the muscular dystrophies.
K J Jones, S S Kim, and K N North
J Med Genet 1998; 35: 379-386. doi:10.1136/jmg.35.5.379 [Abstract] [PDF] [Request Permissions]

Molecular study of the rhodopsin gene in retinitis pigmentosa patients in the Basque Country.
A I Alvarez, E Arostegui, R Martin, M Duran, M L Onaindia, M Molina, and M I Tejada
J Med Genet 1998; 35: 387-390. doi:10.1136/jmg.35.5.387 [Abstract] [PDF] [Request Permissions]

Linkage analysis in Usher syndrome type I (USH1) families from Spain.
C Espinós, C Nájera, J M Millán, C Ayuso, M Baiget, H Pérez-Garrigues, O Rodrigo, C Vilela, and M Beneyto
J Med Genet 1998; 35: 391-398. doi:10.1136/jmg.35.5.391 [Abstract] [PDF] [Request Permissions]

Genotype-phenotype correlation in L1 associated diseases.
E Fransen, G Van Camp, R D'Hooge, L Vits, and P J Willems
J Med Genet 1998; 35: 399-404. doi:10.1136/jmg.35.5.399 [Abstract] [PDF] [Request Permissions]

Psychosocial adaptation in adolescents and young adults with Marfan syndrome: an exploratory study.
A Van Tongerloo and A De Paepe
J Med Genet 1998; 35: 405-409. doi:10.1136/jmg.35.5.405 [Abstract] [PDF] [Request Permissions]

Recommendations for education and training of genetic nurses and counsellors in the United Kingdom.
H Skirton, C Barnes, P Guilbert, A Kershaw, L Kerzin-Storrar, C Patch, G Curtis, and J Walford-Moore
J Med Genet 1998; 35: 410-412. doi:10.1136/jmg.35.5.410 [Abstract] [PDF] [Request Permissions]

The North Cumbria Community Genetics Project.
D S Chase, E J Tawn, L Parker, P Jonas, C O Parker, and J Burn
J Med Genet 1998; 35: 413-416. doi:10.1136/jmg.35.5.413 [Abstract] [PDF] [Request Permissions]

Autosomal dominant juvenile recurrent parotitis.
E Reid, F Douglas, Y Crow, A Hollman, and J Gibson
J Med Genet 1998; 35: 417-419. doi:10.1136/jmg.35.5.417 [Abstract] [PDF] [Request Permissions]

49,XXXXY: a distinct phenotype. Three new cases and review.
J Peet, D D Weaver, and G H Vance
J Med Genet 1998; 35: 420-424. doi:10.1136/jmg.35.5.420 [Abstract] [PDF] [Request Permissions]

Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay.
F L Long, D P Duckett, L J Billam, D K Williams, and J A Crolla
J Med Genet 1998; 35: 425-428. doi:10.1136/jmg.35.5.425 [Abstract] [PDF] [Request Permissions]

A new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q.
M Papaioannou, D Bessant, A Payne, J Bellingham, C Rougas, A Loutradis-Anagnostou, C Gregory-Evans, A Balassopoulou, and S Bhattacharya
J Med Genet 1998; 35: 429-431. doi:10.1136/jmg.35.5.429 [Abstract] [PDF] [Request Permissions]

Exclusion of the familial Mediterranean fever locus as a susceptibility region for autosomal dominant familial Hibernian fever.
M F McDermott, E M McDermott, K A Quane, L C Jones, B W Ogunkolade, D Curtis, F Waldron-Lynch, M Phelan, G A Hitman, M G Molloy, and R J Powell
J Med Genet 1998; 35: 432-434. doi:10.1136/jmg.35.5.432 [Abstract] [PDF] [Request Permissions]

Unknown syndrome: peculiar face, severe hypodontia of permanent teeth, and precocious choroid calcifications.
R Pallotta and P Fusilli
J Med Genet 1998; 35: 435-437. doi:10.1136/jmg.35.5.435 [Abstract] [PDF] [Request Permissions]

Register for free content

The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.

Genetics jobs

Show me all >>

	Medical genetics: advances in brief Evan Reid J Med Genet 1998; 35: 438. doi:10.1136/jmg.35.5.438 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Is lifespan determined in utero? Sarah Slaney J Med Genet 1998; 35: 438. doi:10.1136/jmg.35.5.438-a [PDF] [Request Permissions]

	Medical genetics: advances in brief Louise Wilson J Med Genet 1998; 35: 438. doi:10.1136/jmg.35.5.438-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: Tetrahydrobiopterin - Basic Biochemistry and Role in Human Disease. A F Heeley J Med Genet 1998; 35: 439. doi:10.1136/jmg.35.5.439 [PDF] [Request Permissions]

	Genome Structure and Function: From Chromosome Characterization to Gene Technology Mark C Hirst J Med Genet 1998; 35: 439. doi:10.1136/jmg.35.5.439-a [PDF] [Request Permissions]

	Culture, Kinship and Genes Alison Shaw J Med Genet 1998; 35: 439-440. doi:10.1136/jmg.35.5.439-b [PDF] [Request Permissions]

	Hereditary Kidney Diseases Frances Flinter J Med Genet 1998; 35: 440. doi:10.1136/jmg.35.5.440 [PDF] [Request Permissions]

	Hereditary fructose intolerance. M Ali, P Rellos, and T M Cox J Med Genet 1998; 35: 353-365. doi:10.1136/jmg.35.5.353 [Abstract] [PDF] [Request Permissions]

	A comparison of disease and gene frequencies of inborn errors of metabolism among different ethnic groups in the West Midlands, UK. A C Hutchesson, S Bundey, M A Preece, S K Hall, and A Green J Med Genet 1998; 35: 366-370. doi:10.1136/jmg.35.5.366 [Abstract] [PDF] [Request Permissions]

	Prediction of liability to orofacial clefting using genetic and craniofacial data from parents. P A Mossey, R Arngrimsson, J McColl, G M Vintiner, and J M Connor J Med Genet 1998; 35: 371-378. doi:10.1136/jmg.35.5.371 [Abstract] [PDF] [Request Permissions]

	Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 in the muscular dystrophies. K J Jones, S S Kim, and K N North J Med Genet 1998; 35: 379-386. doi:10.1136/jmg.35.5.379 [Abstract] [PDF] [Request Permissions]

	Molecular study of the rhodopsin gene in retinitis pigmentosa patients in the Basque Country. A I Alvarez, E Arostegui, R Martin, M Duran, M L Onaindia, M Molina, and M I Tejada J Med Genet 1998; 35: 387-390. doi:10.1136/jmg.35.5.387 [Abstract] [PDF] [Request Permissions]

	Linkage analysis in Usher syndrome type I (USH1) families from Spain. C Espinós, C Nájera, J M Millán, C Ayuso, M Baiget, H Pérez-Garrigues, O Rodrigo, C Vilela, and M Beneyto J Med Genet 1998; 35: 391-398. doi:10.1136/jmg.35.5.391 [Abstract] [PDF] [Request Permissions]

	Genotype-phenotype correlation in L1 associated diseases. E Fransen, G Van Camp, R D'Hooge, L Vits, and P J Willems J Med Genet 1998; 35: 399-404. doi:10.1136/jmg.35.5.399 [Abstract] [PDF] [Request Permissions]

	Psychosocial adaptation in adolescents and young adults with Marfan syndrome: an exploratory study. A Van Tongerloo and A De Paepe J Med Genet 1998; 35: 405-409. doi:10.1136/jmg.35.5.405 [Abstract] [PDF] [Request Permissions]

	Recommendations for education and training of genetic nurses and counsellors in the United Kingdom. H Skirton, C Barnes, P Guilbert, A Kershaw, L Kerzin-Storrar, C Patch, G Curtis, and J Walford-Moore J Med Genet 1998; 35: 410-412. doi:10.1136/jmg.35.5.410 [Abstract] [PDF] [Request Permissions]

	The North Cumbria Community Genetics Project. D S Chase, E J Tawn, L Parker, P Jonas, C O Parker, and J Burn J Med Genet 1998; 35: 413-416. doi:10.1136/jmg.35.5.413 [Abstract] [PDF] [Request Permissions]

	Autosomal dominant juvenile recurrent parotitis. E Reid, F Douglas, Y Crow, A Hollman, and J Gibson J Med Genet 1998; 35: 417-419. doi:10.1136/jmg.35.5.417 [Abstract] [PDF] [Request Permissions]

	49,XXXXY: a distinct phenotype. Three new cases and review. J Peet, D D Weaver, and G H Vance J Med Genet 1998; 35: 420-424. doi:10.1136/jmg.35.5.420 [Abstract] [PDF] [Request Permissions]

	Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay. F L Long, D P Duckett, L J Billam, D K Williams, and J A Crolla J Med Genet 1998; 35: 425-428. doi:10.1136/jmg.35.5.425 [Abstract] [PDF] [Request Permissions]

	A new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q. M Papaioannou, D Bessant, A Payne, J Bellingham, C Rougas, A Loutradis-Anagnostou, C Gregory-Evans, A Balassopoulou, and S Bhattacharya J Med Genet 1998; 35: 429-431. doi:10.1136/jmg.35.5.429 [Abstract] [PDF] [Request Permissions]

	Exclusion of the familial Mediterranean fever locus as a susceptibility region for autosomal dominant familial Hibernian fever. M F McDermott, E M McDermott, K A Quane, L C Jones, B W Ogunkolade, D Curtis, F Waldron-Lynch, M Phelan, G A Hitman, M G Molloy, and R J Powell J Med Genet 1998; 35: 432-434. doi:10.1136/jmg.35.5.432 [Abstract] [PDF] [Request Permissions]

	Unknown syndrome: peculiar face, severe hypodontia of permanent teeth, and precocious choroid calcifications. R Pallotta and P Fusilli J Med Genet 1998; 35: 435-437. doi:10.1136/jmg.35.5.435 [Abstract] [PDF] [Request Permissions]