J Med Genet -- Table of Contents (38 [5])

Home > Volume 38, Number 5

Receive tables of contents (and more) by e-mail each issue: Subscribe to Customised @lerts

Other Issues:
May 2001 (Volume 38, Number 5). [Index by author]

		Obituaries Review articles Original articles Short reports Letters to the editor Electronic letters

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

Cover (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.

Obituaries

Cyril Astley Clarke
DAVID WEATHERALL
J Med Genet 2001; 38: 281-283. doi:10.1136/jmg.38.5.281 [Extract] [Full text] [PDF] [Request Permissions]

Cyril Clarke, Journal of Medical Genetics, and the foundation of clinical genetics
PETER HARPER
J Med Genet 2001; 38: 283-284. doi:10.1136/jmg.38.5.283 [Extract] [Full text] [Request Permissions]

Persisting memories of Cyril Clarke in Baltimore
VICTOR A McKUSICK
J Med Genet 2001; 38: 284. doi:10.1136/jmg.38.5.284 [Extract] [Full text] [Request Permissions]

Review articles

Methylation matters
Joseph F Costello and Christoph Plass
J Med Genet 2001; 38: 285-303. doi:10.1136/jmg.38.5.285 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

A novel acropectoral syndrome maps to chromosome 7q36
Munis Dundar, Tilda M Gordon, Irfan Ozyazgan, Fahri Oguzkaya, Yusuf Ozkul, Alexander Cooke, A Graham Wilkinson, Susan Holloway, Frances R Goodman, and John L Tolmie
J Med Genet 2001; 38: 304-309. doi:10.1136/jmg.38.5.304 [Abstract] [Full text] [PDF] [Request Permissions]

The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis
M Gabolde, D Hubert, M Guilloud-Bataille, C Lenaerts, J Feingold, and C Besmond
J Med Genet 2001; 38: 310-311. doi:10.1136/jmg.38.5.310 [Abstract] [Full text] [PDF] [Request Permissions]

Heterogeneous tissue distribution of a mitochondrial DNA polymorphism in heteroplasmic subjects without mitochondrial disorders
Elmar Kirches, Matthias Michael, Michaela Warich-Kirches, Thomas Schneider, Serge Weis, Guido Krause, Christian Mawrin, and Knut Dietzmann
J Med Genet 2001; 38: 312-317. doi:10.1136/jmg.38.5.312 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree
A Wagner, Y Hendriks, E J Meijers-Heijboer, W J F de Leeuw, H Morreau, R Hofstra, C Tops, E Bik, A H J T Bröcker-Vriends, C van der Meer, D Lindhout, H F A Vasen, M H Breuning, C J Cornelisse, C van Krimpen, M F Niermeijer, A H Zwinderman, J Wijnen, and R Fodde
J Med Genet 2001; 38: 318-322. doi:10.1136/jmg.38.5.318 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

SHOX point mutations in dyschondrosteosis
Céline Huber, Veronica Cusin, Martine Le Merrer, Michèle Mathieu, Véronique Sulmont, Nathalie Dagoneau, Arnold Munnich, and Valérie Cormier-Daire
J Med Genet 2001; 38: 323. doi:10.1136/jmg.38.5.323 [Extract] [Full text] [PDF] [Request Permissions]

Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly
Andrea Vincent, Gail Billingsley, Megan Priston, Donna Williams-Lyn, Joanne Sutherland, Tom Glaser, Edward Oliver, Michael A Walter, Godfrey Heathcote, Alex Levin, and Elise Héon
J Med Genet 2001; 38: 324-326. doi:10.1136/jmg.38.5.324 [Extract] [Full text] [Request Permissions]

Role of TP53 P72R polymorphism in human papillomavirus associated premalignant laryngeal neoplasm
Leena-Maija Aaltonen, Ren Wei Chen, Stina Roth, Antti A Mäkitie, Heikki Rihkanen, Antti Vaheri, and Lauri A Aaltonen
J Med Genet 2001; 38: 327. doi:10.1136/jmg.38.5.327 [Extract] [Full text] [Request Permissions]

Predisposing chromosome for spinocerebellar ataxia type 6 (SCA6) in Japanese
I Yabe, H Sasaki, I Yamashita, K Tashiro, A Takei, Y Suzuki, H Kida, Y Takiyama, M Nishizawa, Y Hokezu, K Nagamatsu, T Oda, A Ohnishi, I Inoue, and A Hata
J Med Genet 2001; 38: 328-333. doi:10.1136/jmg.38.5.328 [Extract] [Full text] [Request Permissions]

Prenatal testing for Huntington's disease: experience within the UK 1994-1998
Sheila A Simpson and Peter S Harper
J Med Genet 2001; 38: 333-335. doi:10.1136/jmg.38.5.333 [Extract] [Full text] [Request Permissions]

Pregnancy outcome and long term prognosis in 868 children born after second trimester amniocentesis for maternal serum positive triple test screening and normal prenatal karyotype
I Witters, E Legius, K Devriendt, P Moerman, D Van Schoubroeck, A Van Assche, and J-P Fryns
J Med Genet 2001; 38: 336-338. doi:10.1136/jmg.38.5.336 [Extract] [Full text] [Request Permissions]

A syndrome of overgrowth and acromegaloidism with normal growth hormone secretion is associated with chromosome 11 pericentric inversion
Constantine A Stratakis, Maria L Turner, Antony Lafferty, Jorge R Toro, Suvimol Hill, Jeanne M Meck, and Jan Blancato
J Med Genet 2001; 38: 338-343. doi:10.1136/jmg.38.5.338 [Extract] [Full text] [Request Permissions]

Maternally inherited duplication of the possible imprinted 14q31 region
Cécile Mignon-Ravix, Francine Mugneret, Christiana Stavropoulou, Danielle Depetris, Philippe Khau Van Kien, and Marie-Geneviève Mattei
J Med Genet 2001; 38: 343-347. doi:10.1136/jmg.38.5.343 [Extract] [Full text] [Request Permissions]

A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex
Leena Khare, Galina D Strizheva, Julia N Bailey, Kit-Sing Au, Hope Northrup, Moyra Smith, Susan L Smalley, and Elizabeth Petri Henske
J Med Genet 2001; 38: 347-349. doi:10.1136/jmg.38.5.347 [Extract] [Full text] [Request Permissions]

Interstitial deletion of 3p22.2-p24.2: the first reported case
H X Liu, P T S P Oei, E A Mitchell, and J M McGaughran
J Med Genet 2001; 38: 349-351. doi:10.1136/jmg.38.5.349 [Extract] [Full text] [Request Permissions]

Electronic letters

A cysteine substitution in the zona pellucida domain of $alpha$ -tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family
Miguel Angel Moreno-Pelayo, Ignacio del Castillo, Manuela Villamar, Lourdes Romero, Francisco Javier Hernández-Calvín, Carlos Herraiz, Rafael Barberá, Cristina Navas, and Felipe Moreno
J Med Genet 2001; 38: e13. doi:10.1136/jmg.38.5.e13 [Extract] [Full text] [PDF] [Request Permissions]

Does Bardet-Biedl syndrome have a characteristic face?
Isabel Lorda-Sanchez, Carmen Ayuso, Raul Sanz, and Angeles Ibañez
J Med Genet 2001; 38: e14. doi:10.1136/jmg.38.5.e14 [Extract] [Full text] [PDF] [Request Permissions]

Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism
M B Coulter-Mackie, J Rip, M J Beis, P Ferreira, and M D Ludman
J Med Genet 2001; 38: e15. doi:10.1136/jmg.38.5.e15 [Extract] [Full text] [PDF] [Request Permissions]

The importance of good images in using hair to screen for breast cancer
Veronica James
J Med Genet 2001; 38: e16. doi:10.1136/jmg.38.5.e16 [Extract] [Full text] [PDF] [Request Permissions]

Science or black magic?
D Gareth R Evans, Anthony Howell, S Samar Hasnain, and J Günter Grossmann
J Med Genet 2001; 38: e16. doi:10.1136/jmg.38.5.e16a [Extract] [Full text] [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.

	Cyril Astley Clarke DAVID WEATHERALL J Med Genet 2001; 38: 281-283. doi:10.1136/jmg.38.5.281 [Extract] [Full text] [PDF] [Request Permissions]

	*Cyril Clarke, Journal of Medical Genetics, and the foundation of clinical genetics* PETER HARPER J Med Genet 2001; 38: 283-284. doi:10.1136/jmg.38.5.283 [Extract] [Full text] [Request Permissions]

	Persisting memories of Cyril Clarke in Baltimore VICTOR A McKUSICK J Med Genet 2001; 38: 284. doi:10.1136/jmg.38.5.284 [Extract] [Full text] [Request Permissions]

	Methylation matters Joseph F Costello and Christoph Plass J Med Genet 2001; 38: 285-303. doi:10.1136/jmg.38.5.285 [Abstract] [Full text] [PDF] [Request Permissions]

	A novel acropectoral syndrome maps to chromosome 7q36 Munis Dundar, Tilda M Gordon, Irfan Ozyazgan, Fahri Oguzkaya, Yusuf Ozkul, Alexander Cooke, A Graham Wilkinson, Susan Holloway, Frances R Goodman, and John L Tolmie J Med Genet 2001; 38: 304-309. doi:10.1136/jmg.38.5.304 [Abstract] [Full text] [PDF] [Request Permissions]

	The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis M Gabolde, D Hubert, M Guilloud-Bataille, C Lenaerts, J Feingold, and C Besmond J Med Genet 2001; 38: 310-311. doi:10.1136/jmg.38.5.310 [Abstract] [Full text] [PDF] [Request Permissions]

	Heterogeneous tissue distribution of a mitochondrial DNA polymorphism in heteroplasmic subjects without mitochondrial disorders Elmar Kirches, Matthias Michael, Michaela Warich-Kirches, Thomas Schneider, Serge Weis, Guido Krause, Christian Mawrin, and Knut Dietzmann J Med Genet 2001; 38: 312-317. doi:10.1136/jmg.38.5.312 [Abstract] [Full text] [PDF] [Request Permissions]

	SHOX point mutations in dyschondrosteosis Céline Huber, Veronica Cusin, Martine Le Merrer, Michèle Mathieu, Véronique Sulmont, Nathalie Dagoneau, Arnold Munnich, and Valérie Cormier-Daire J Med Genet 2001; 38: 323. doi:10.1136/jmg.38.5.323 [Extract] [Full text] [PDF] [Request Permissions]

	Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly Andrea Vincent, Gail Billingsley, Megan Priston, Donna Williams-Lyn, Joanne Sutherland, Tom Glaser, Edward Oliver, Michael A Walter, Godfrey Heathcote, Alex Levin, and Elise Héon J Med Genet 2001; 38: 324-326. doi:10.1136/jmg.38.5.324 [Extract] [Full text] [Request Permissions]

	Role of TP53 P72R polymorphism in human papillomavirus associated premalignant laryngeal neoplasm Leena-Maija Aaltonen, Ren Wei Chen, Stina Roth, Antti A Mäkitie, Heikki Rihkanen, Antti Vaheri, and Lauri A Aaltonen J Med Genet 2001; 38: 327. doi:10.1136/jmg.38.5.327 [Extract] [Full text] [Request Permissions]

	Predisposing chromosome for spinocerebellar ataxia type 6 (SCA6) in Japanese I Yabe, H Sasaki, I Yamashita, K Tashiro, A Takei, Y Suzuki, H Kida, Y Takiyama, M Nishizawa, Y Hokezu, K Nagamatsu, T Oda, A Ohnishi, I Inoue, and A Hata J Med Genet 2001; 38: 328-333. doi:10.1136/jmg.38.5.328 [Extract] [Full text] [Request Permissions]

	Prenatal testing for Huntington's disease: experience within the UK 1994-1998 Sheila A Simpson and Peter S Harper J Med Genet 2001; 38: 333-335. doi:10.1136/jmg.38.5.333 [Extract] [Full text] [Request Permissions]

	Pregnancy outcome and long term prognosis in 868 children born after second trimester amniocentesis for maternal serum positive triple test screening and normal prenatal karyotype I Witters, E Legius, K Devriendt, P Moerman, D Van Schoubroeck, A Van Assche, and J-P Fryns J Med Genet 2001; 38: 336-338. doi:10.1136/jmg.38.5.336 [Extract] [Full text] [Request Permissions]

	A syndrome of overgrowth and acromegaloidism with normal growth hormone secretion is associated with chromosome 11 pericentric inversion Constantine A Stratakis, Maria L Turner, Antony Lafferty, Jorge R Toro, Suvimol Hill, Jeanne M Meck, and Jan Blancato J Med Genet 2001; 38: 338-343. doi:10.1136/jmg.38.5.338 [Extract] [Full text] [Request Permissions]

	Maternally inherited duplication of the possible imprinted 14q31 region Cécile Mignon-Ravix, Francine Mugneret, Christiana Stavropoulou, Danielle Depetris, Philippe Khau Van Kien, and Marie-Geneviève Mattei J Med Genet 2001; 38: 343-347. doi:10.1136/jmg.38.5.343 [Extract] [Full text] [Request Permissions]

	*A novel missense mutation in the GTPase activating protein homology region of TSC2* in two large families with tuberous sclerosis complex** Leena Khare, Galina D Strizheva, Julia N Bailey, Kit-Sing Au, Hope Northrup, Moyra Smith, Susan L Smalley, and Elizabeth Petri Henske J Med Genet 2001; 38: 347-349. doi:10.1136/jmg.38.5.347 [Extract] [Full text] [Request Permissions]

	Interstitial deletion of 3p22.2-p24.2: the first reported case H X Liu, P T S P Oei, E A Mitchell, and J M McGaughran J Med Genet 2001; 38: 349-351. doi:10.1136/jmg.38.5.349 [Extract] [Full text] [Request Permissions]

	A cysteine substitution in the zona pellucida domain of $alpha$ -tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family Miguel Angel Moreno-Pelayo, Ignacio del Castillo, Manuela Villamar, Lourdes Romero, Francisco Javier Hernández-Calvín, Carlos Herraiz, Rafael Barberá, Cristina Navas, and Felipe Moreno J Med Genet 2001; 38: e13. doi:10.1136/jmg.38.5.e13 [Extract] [Full text] [PDF] [Request Permissions]

	Does Bardet-Biedl syndrome have a characteristic face? Isabel Lorda-Sanchez, Carmen Ayuso, Raul Sanz, and Angeles Ibañez J Med Genet 2001; 38: e14. doi:10.1136/jmg.38.5.e14 [Extract] [Full text] [PDF] [Request Permissions]

	Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism M B Coulter-Mackie, J Rip, M J Beis, P Ferreira, and M D Ludman J Med Genet 2001; 38: e15. doi:10.1136/jmg.38.5.e15 [Extract] [Full text] [PDF] [Request Permissions]

	The importance of good images in using hair to screen for breast cancer Veronica James J Med Genet 2001; 38: e16. doi:10.1136/jmg.38.5.e16 [Extract] [Full text] [PDF] [Request Permissions]

	Science or black magic? D Gareth R Evans, Anthony Howell, S Samar Hasnain, and J Günter Grossmann J Med Genet 2001; 38: e16. doi:10.1136/jmg.38.5.e16a [Extract] [Full text] [Request Permissions]

Register for free content

Genetics jobs