J Med Genet -- Table of Contents (34 [5])

Subscribe here
Activate your subscription

Home > Volume 34, Number 5

Only Abstracts and PDFs available for this issue

Other Issues:
May 1997 (Volume 34, Number 5). [Index by author]

		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.

Book Reviews

Technologies for Detection of DNA Damage and Mutations
A R Lehmann
J Med Genet 1997; 34: 438. doi:10.1136/jmg.34.5.438 [PDF] [Request Permissions]

The Gene Bomb
Tom Wilkie
J Med Genet 1997; 34: 438-439. doi:10.1136/jmg.34.5.438-a [PDF] [Request Permissions]

Fragile X Syndrome: Diagnosis, Treatment and Research
Gillian Turner
J Med Genet 1997; 34: 439. doi:10.1136/jmg.34.5.439 [PDF] [Request Permissions]

Genetics in Anesthesiology
Tommie McCarthy and Mary Lehane
J Med Genet 1997; 34: 439-440. doi:10.1136/jmg.34.5.439-a [PDF] [Request Permissions]

Research Article

Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.
D Catchpoole, W W Lam, D Valler, I K Temple, J A Joyce, W Reik, P N Schofield, and E R Maher
J Med Genet 1997; 34: 353-359. doi:10.1136/jmg.34.5.353 [Abstract] [PDF] [Request Permissions]

The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q.
H Arnell, K Hjälmås, M Jägervall, G Läckgren, A Stenberg, B Bengtsson, C Wassén, T Emahazion, G Annerén, U Pettersson, M Sundvall, and N Dahl
J Med Genet 1997; 34: 360-365. doi:10.1136/jmg.34.5.360 [Abstract] [PDF] [Request Permissions]

Further delineation of Nevo syndrome.
L I al-Gazali, D Bakalinova, E Varady, J Scorer, and M Nork
J Med Genet 1997; 34: 366-370. doi:10.1136/jmg.34.5.366 [Abstract] [PDF] [Request Permissions]

Analysis of the 5' upstream sequence of the Huntington's disease (HD) gene shows six new rare alleles which are unrelated to the age at onset of HD.
R Coles, J Leggo, and D C Rubinsztein
J Med Genet 1997; 34: 371-374. doi:10.1136/jmg.34.5.371 [Abstract] [PDF] [Request Permissions]

Genotypic diagnosis of familial Mediterranean fever (FMF) using new microsatellite markers: example of two extensive non-Ashkenazi Jewish pedigrees.
M Dupont, C Dross, N Smaoui, B Nedelec, G Grateau, C Clépet, I Gourdier, I Koné-Paut, M Delpech, J Demaille, and I Touitou
J Med Genet 1997; 34: 375-381. doi:10.1136/jmg.34.5.375 [Abstract] [PDF] [Request Permissions]

Psychological distress in applicants for predictive DNA testing for autosomal dominant, heritable, late onset disorders. The Rotterdam/Leiden Genetics Workgroup.
A C DudokdeWit, A Tibben, H J Duivenvoorden, P G Frets, M W Zoeteweij, M Losekoot, A van Haeringen, M F Niermeijer, and J Passchier
J Med Genet 1997; 34: 382-390. doi:10.1136/jmg.34.5.382 [Abstract] [PDF] [Request Permissions]

Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease.
S Iyengar, H Kalinsky, S Weiss, M Korostishevsky, M Sadeh, Y Zhao, K K Kidd, and B Bonne-Tamir
J Med Genet 1997; 34: 391-394. doi:10.1136/jmg.34.5.391 [Abstract] [PDF] [Request Permissions]

Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome.
K Devriendt, P Petit, G Matthijs, J R Vermeesch, M Holvoet, A De Muelenaere, P Marynen, J J Cassiman, and J P Fryns
J Med Genet 1997; 34: 395-399. doi:10.1136/jmg.34.5.395 [Abstract] [PDF] [Request Permissions]

Ehlers-Danlos syndrome has varied molecular mechanisms.
F M Pope and N P Burrows
J Med Genet 1997; 34: 400-410. doi:10.1136/jmg.34.5.400 [PDF] [Request Permissions]

Meiotic instability associated with the CAGR1 trinucleotide repeat at 13q13.
N T Potter
J Med Genet 1997; 34: 411-413. doi:10.1136/jmg.34.5.411 [Abstract] [PDF] [Request Permissions]

Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects.
S B Dowton, A V Hing, V Sheen-Kaniecki, and M S Watson
J Med Genet 1997; 34: 414-417. doi:10.1136/jmg.34.5.414 [Abstract] [PDF] [Request Permissions]

Autosomal dominant inheritance of Weaver syndrome.
A Fryer, C Smith, L Rosenbloom, and T Cole
J Med Genet 1997; 34: 418-419. doi:10.1136/jmg.34.5.418 [Abstract] [PDF] [Request Permissions]

A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.
D Steinberger, H Collmann, B Schmalenberger, and U Müller
J Med Genet 1997; 34: 420-422. doi:10.1136/jmg.34.5.420 [Abstract] [PDF] [Request Permissions]

Chromosome 22q11 deletion presenting as the Potter sequence.
K Devriendt, P Moerman, D Van Schoubroeck, K Vandenberghe, and J P Fryns
J Med Genet 1997; 34: 423-425. doi:10.1136/jmg.34.5.423 [Abstract] [PDF] [Request Permissions]

Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.
A Smith, R Marks, E Haan, J Dixon, and R J Trent
J Med Genet 1997; 34: 426-429. doi:10.1136/jmg.34.5.426 [Abstract] [PDF] [Request Permissions]

Interstitial deletion of band 3q25.
A M Slavotinek, S M Huson, and M Fitchett
J Med Genet 1997; 34: 430-432. doi:10.1136/jmg.34.5.430 [Abstract] [PDF] [Request Permissions]

Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients.
H Arboleda, L Quintero, and E Yunis
J Med Genet 1997; 34: 433-437. doi:10.1136/jmg.34.5.433 [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 >>

	Technologies for Detection of DNA Damage and Mutations A R Lehmann J Med Genet 1997; 34: 438. doi:10.1136/jmg.34.5.438 [PDF] [Request Permissions]

	The Gene Bomb Tom Wilkie J Med Genet 1997; 34: 438-439. doi:10.1136/jmg.34.5.438-a [PDF] [Request Permissions]

	Fragile X Syndrome: Diagnosis, Treatment and Research Gillian Turner J Med Genet 1997; 34: 439. doi:10.1136/jmg.34.5.439 [PDF] [Request Permissions]

	Genetics in Anesthesiology Tommie McCarthy and Mary Lehane J Med Genet 1997; 34: 439-440. doi:10.1136/jmg.34.5.439-a [PDF] [Request Permissions]

	Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome. D Catchpoole, W W Lam, D Valler, I K Temple, J A Joyce, W Reik, P N Schofield, and E R Maher J Med Genet 1997; 34: 353-359. doi:10.1136/jmg.34.5.353 [Abstract] [PDF] [Request Permissions]

	The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q. H Arnell, K Hjälmås, M Jägervall, G Läckgren, A Stenberg, B Bengtsson, C Wassén, T Emahazion, G Annerén, U Pettersson, M Sundvall, and N Dahl J Med Genet 1997; 34: 360-365. doi:10.1136/jmg.34.5.360 [Abstract] [PDF] [Request Permissions]

	Further delineation of Nevo syndrome. L I al-Gazali, D Bakalinova, E Varady, J Scorer, and M Nork J Med Genet 1997; 34: 366-370. doi:10.1136/jmg.34.5.366 [Abstract] [PDF] [Request Permissions]

	Analysis of the 5' upstream sequence of the Huntington's disease (HD) gene shows six new rare alleles which are unrelated to the age at onset of HD. R Coles, J Leggo, and D C Rubinsztein J Med Genet 1997; 34: 371-374. doi:10.1136/jmg.34.5.371 [Abstract] [PDF] [Request Permissions]

	Genotypic diagnosis of familial Mediterranean fever (FMF) using new microsatellite markers: example of two extensive non-Ashkenazi Jewish pedigrees. M Dupont, C Dross, N Smaoui, B Nedelec, G Grateau, C Clépet, I Gourdier, I Koné-Paut, M Delpech, J Demaille, and I Touitou J Med Genet 1997; 34: 375-381. doi:10.1136/jmg.34.5.375 [Abstract] [PDF] [Request Permissions]

	Psychological distress in applicants for predictive DNA testing for autosomal dominant, heritable, late onset disorders. The Rotterdam/Leiden Genetics Workgroup. A C DudokdeWit, A Tibben, H J Duivenvoorden, P G Frets, M W Zoeteweij, M Losekoot, A van Haeringen, M F Niermeijer, and J Passchier J Med Genet 1997; 34: 382-390. doi:10.1136/jmg.34.5.382 [Abstract] [PDF] [Request Permissions]

	Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease. S Iyengar, H Kalinsky, S Weiss, M Korostishevsky, M Sadeh, Y Zhao, K K Kidd, and B Bonne-Tamir J Med Genet 1997; 34: 391-394. doi:10.1136/jmg.34.5.391 [Abstract] [PDF] [Request Permissions]

	Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome. K Devriendt, P Petit, G Matthijs, J R Vermeesch, M Holvoet, A De Muelenaere, P Marynen, J J Cassiman, and J P Fryns J Med Genet 1997; 34: 395-399. doi:10.1136/jmg.34.5.395 [Abstract] [PDF] [Request Permissions]

	Ehlers-Danlos syndrome has varied molecular mechanisms. F M Pope and N P Burrows J Med Genet 1997; 34: 400-410. doi:10.1136/jmg.34.5.400 [PDF] [Request Permissions]

	Meiotic instability associated with the CAGR1 trinucleotide repeat at 13q13. N T Potter J Med Genet 1997; 34: 411-413. doi:10.1136/jmg.34.5.411 [Abstract] [PDF] [Request Permissions]

	Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects. S B Dowton, A V Hing, V Sheen-Kaniecki, and M S Watson J Med Genet 1997; 34: 414-417. doi:10.1136/jmg.34.5.414 [Abstract] [PDF] [Request Permissions]

	Autosomal dominant inheritance of Weaver syndrome. A Fryer, C Smith, L Rosenbloom, and T Cole J Med Genet 1997; 34: 418-419. doi:10.1136/jmg.34.5.418 [Abstract] [PDF] [Request Permissions]

	A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly. D Steinberger, H Collmann, B Schmalenberger, and U Müller J Med Genet 1997; 34: 420-422. doi:10.1136/jmg.34.5.420 [Abstract] [PDF] [Request Permissions]

	Chromosome 22q11 deletion presenting as the Potter sequence. K Devriendt, P Moerman, D Van Schoubroeck, K Vandenberghe, and J P Fryns J Med Genet 1997; 34: 423-425. doi:10.1136/jmg.34.5.423 [Abstract] [PDF] [Request Permissions]

	Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy. A Smith, R Marks, E Haan, J Dixon, and R J Trent J Med Genet 1997; 34: 426-429. doi:10.1136/jmg.34.5.426 [Abstract] [PDF] [Request Permissions]

	Interstitial deletion of band 3q25. A M Slavotinek, S M Huson, and M Fitchett J Med Genet 1997; 34: 430-432. doi:10.1136/jmg.34.5.430 [Abstract] [PDF] [Request Permissions]

	Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients. H Arboleda, L Quintero, and E Yunis J Med Genet 1997; 34: 433-437. doi:10.1136/jmg.34.5.433 [Abstract] [PDF] [Request Permissions]