J Med Genet -- Table of Contents (36 [10])

Subscribe here
Activate your subscription

Home > Volume 36, Number 10

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

Other Issues:
October 1999 (Volume 36, Number 10). [Index by author]

		Editorials Review articles Commentaries Original articles Short reports Letters to the editor

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

Table of Contents (PDF) | 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.

Editorials

The future JMG: www.jmedgenet.com
EAMONN R MAHER
J Med Genet 1999; 36: 729. doi:10.1136/jmg.36.10.729 [Extract] [Full text] [PDF] [Request Permissions]

Review articles

Mutational analysis using oligonucleotide microarrays
Joseph G Hacia and Francis S Collins
J Med Genet 1999; 36: 730-736. doi:10.1136/jmg.36.10.730 [Abstract] [Full text] [PDF] [Request Permissions]

Commentaries

Closing time for CATCH22
John Burn
J Med Genet 1999; 36: 737-738. doi:10.1136/jmg.36.10.737 [Extract] [Full text] [PDF] [Request Permissions]

Original articles

A molecular investigation of true dominance in Huntington's disease
Yolanda Narain, Andreas Wyttenbach, Julia Rankin, Robert A Furlong, and David C Rubinsztein
J Med Genet 1999; 36: 739-746. doi:10.1136/jmg.36.10.739 [Abstract] [Full text] [PDF] [Request Permissions]

A highly accurate, low cost test for BRCA1 mutations
Nathalie J van Orsouw, Rahul K Dhanda, Youssef Elhaji, Steven A Narod, Frederick P Li, Charis Eng, and Jan Vijg
J Med Genet 1999; 36: 747-753. doi:10.1136/jmg.36.10.747 [Abstract] [Full text] [PDF] [Request Permissions]

Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1
Laurent Villard, Sylvain Briault, Anne-Marie Lossi, Christine Paringaux, Jérôme Belougne, Laurence Colleaux, D R Pincus, E Woollatt, James Lespinasse, Arnold Munnich, Claude Moraine, Michel Fontès, and Jozef Gecz
J Med Genet 1999; 36: 754-758. doi:10.1136/jmg.36.10.754 [Abstract] [Full text] [PDF] [Request Permissions]

X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27
Arnold L Christianson, Roger E Stevenson, C H van der Meyden, Julie Pelser, Francois W Theron, Petro L van Rensburg, Michael Chandler, and Charles E Schwartz
J Med Genet 1999; 36: 759-766. doi:10.1136/jmg.36.10.759 [Abstract] [Full text] [PDF] [Request Permissions]

Microdeletions in FMR2 may be a significant cause of premature ovarian failure
Anna Murray, James Webb, Nick Dennis, Gerard Conway, and Newton Morton
J Med Genet 1999; 36: 767-770. doi:10.1136/jmg.36.10.767 [Abstract] [Full text] [PDF] [Request Permissions]

Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression
Salud Borrego, María Eugenia Sáez, Agustín Ruiz, Oliver Gimm, Manuel López-Alonso, Guillermo Antiñolo, and Charis Eng
J Med Genet 1999; 36: 771-774. doi:10.1136/jmg.36.10.771 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome
S Manouvrier-Hanu, J Amiel, S Jacquot, K Merienne, A Moerman, A Coëslier, F Labarriere, L Vallée, M F Croquette, and A Hanauer
J Med Genet 1999; 36: 775-778. doi:10.1136/jmg.36.10.775 [Abstract] [Full text] [PDF] [Request Permissions]

Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders
Nobuyuki Shimozawa, Atsushi Imamura, Zhongyi Zhang, Yasuyuki Suzuki, Tadao Orii, Toshiro Tsukamoto, Takashi Osumi, Yukio Fujiki, Ronald J A Wanders, Guy Besley, and Naomi Kondo
J Med Genet 1999; 36: 779-781. doi:10.1136/jmg.36.10.779 [Abstract] [Full text] [PDF] [Request Permissions]

Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype
Roel Hordijk, Henk Wierenga, Hans Scheffer, Beike Leegte, Robert M W Hofstra, and Irene Stolte-Dijkstra
J Med Genet 1999; 36: 782-785. doi:10.1136/jmg.36.10.782 [Abstract] [Full text] [PDF] [Request Permissions]

Schimke immuno-osseous dysplasia: case report and review of 25 patients
Jorge M Saraiva, Alexandra Dinis, Cristina Resende, Emília Faria, Clara Gomes, A Jorge Correia, Júlia Gil, and Nicolau da Fonseca
J Med Genet 1999; 36: 786-789. doi:10.1136/jmg.36.10.786 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening
ZHI QIANG YUAN, NORA WONG, WILLIAM D FOULKES, LESLEY ALPERT, FORTUNATO MANGANARO, CORINNE ANDREUTTI-ZAUGG, RICHARD IGGO, KIRA ANTHONY, EUGENE HSIEH, MARK REDSTON, LEONARD PINSKY, MARK TRIFIRO, PHILIP H GORDON, and DANA LASKO
J Med Genet 1999; 36: 792-793. doi:10.1136/jmg.36.10.792 [Extract] [Full text] [Request Permissions]

A PCR test for the detection of hypermethylated alleles at the retinoblastoma locus
MICHAEL ZESCHNIGK, DIETMAR LOHMANN, and BERNHARD HORSTHEMKE
J Med Genet 1999; 36: 793-794. doi:10.1136/jmg.36.10.793 [Extract] [Full text] [Request Permissions]

Frequency and predictive value of 22q11 deletion
JESSE LILING, IAN CROSS, JOHN BURN, C PAUL DANIEL, E JANET TAWN, and LOUISE PARKER
J Med Genet 1999; 36: 794-795. doi:10.1136/jmg.36.10.794 [Extract] [Full text] [Request Permissions]

Cardiac and skeletal actin gene mutations are not a common cause of dilated cardiomyopathy
BONGANI M MAYOSI, SAIB S KHOGALI, BAIPING ZHANG, and HUGH WATKINS
J Med Genet 1999; 36: 796-797. doi:10.1136/jmg.36.10.796 [Extract] [Full text] [Request Permissions]

Subclinical cognitive impairment in autosomal dominant "pure" hereditary spastic paraplegia
E REID, C GRAYSON, D C RUBINSZTEIN, M T ROGERS, and J S RUBINSZTEIN
J Med Genet 1999; 36: 797-798. doi:10.1136/jmg.36.10.797 [Extract] [Full text] [Request Permissions]

Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome
HENDRIK VAN DEN BERG and RAOUL C M HENNEKAM
J Med Genet 1999; 36: 799-800. doi:10.1136/jmg.36.10.799 [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.

Genetics jobs

Show me all >>

	The future JMG: www.jmedgenet.com EAMONN R MAHER J Med Genet 1999; 36: 729. doi:10.1136/jmg.36.10.729 [Extract] [Full text] [PDF] [Request Permissions]

	Mutational analysis using oligonucleotide microarrays Joseph G Hacia and Francis S Collins J Med Genet 1999; 36: 730-736. doi:10.1136/jmg.36.10.730 [Abstract] [Full text] [PDF] [Request Permissions]

	Closing time for CATCH22 John Burn J Med Genet 1999; 36: 737-738. doi:10.1136/jmg.36.10.737 [Extract] [Full text] [PDF] [Request Permissions]

	A molecular investigation of true dominance in Huntington's disease Yolanda Narain, Andreas Wyttenbach, Julia Rankin, Robert A Furlong, and David C Rubinsztein J Med Genet 1999; 36: 739-746. doi:10.1136/jmg.36.10.739 [Abstract] [Full text] [PDF] [Request Permissions]

	*A highly accurate, low cost test for BRCA1* mutations** Nathalie J van Orsouw, Rahul K Dhanda, Youssef Elhaji, Steven A Narod, Frederick P Li, Charis Eng, and Jan Vijg J Med Genet 1999; 36: 747-753. doi:10.1136/jmg.36.10.747 [Abstract] [Full text] [PDF] [Request Permissions]

	Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1 Laurent Villard, Sylvain Briault, Anne-Marie Lossi, Christine Paringaux, Jérôme Belougne, Laurence Colleaux, D R Pincus, E Woollatt, James Lespinasse, Arnold Munnich, Claude Moraine, Michel Fontès, and Jozef Gecz J Med Genet 1999; 36: 754-758. doi:10.1136/jmg.36.10.754 [Abstract] [Full text] [PDF] [Request Permissions]

	X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27 Arnold L Christianson, Roger E Stevenson, C H van der Meyden, Julie Pelser, Francois W Theron, Petro L van Rensburg, Michael Chandler, and Charles E Schwartz J Med Genet 1999; 36: 759-766. doi:10.1136/jmg.36.10.759 [Abstract] [Full text] [PDF] [Request Permissions]

	*Microdeletions in FMR2* may be a significant cause of premature ovarian failure** Anna Murray, James Webb, Nick Dennis, Gerard Conway, and Newton Morton J Med Genet 1999; 36: 767-770. doi:10.1136/jmg.36.10.767 [Abstract] [Full text] [PDF] [Request Permissions]

	*Specific polymorphisms in the RET* proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression** Salud Borrego, María Eugenia Sáez, Agustín Ruiz, Oliver Gimm, Manuel López-Alonso, Guillermo Antiñolo, and Charis Eng J Med Genet 1999; 36: 771-774. doi:10.1136/jmg.36.10.771 [Abstract] [Full text] [PDF] [Request Permissions]

	*Unreported RSK2* missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome** S Manouvrier-Hanu, J Amiel, S Jacquot, K Merienne, A Moerman, A Coëslier, F Labarriere, L Vallée, M F Croquette, and A Hanauer J Med Genet 1999; 36: 775-778. doi:10.1136/jmg.36.10.775 [Abstract] [Full text] [PDF] [Request Permissions]

	*Defective PEX* gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders** Nobuyuki Shimozawa, Atsushi Imamura, Zhongyi Zhang, Yasuyuki Suzuki, Tadao Orii, Toshiro Tsukamoto, Takashi Osumi, Yukio Fujiki, Ronald J A Wanders, Guy Besley, and Naomi Kondo J Med Genet 1999; 36: 779-781. doi:10.1136/jmg.36.10.779 [Abstract] [Full text] [PDF] [Request Permissions]

	Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype Roel Hordijk, Henk Wierenga, Hans Scheffer, Beike Leegte, Robert M W Hofstra, and Irene Stolte-Dijkstra J Med Genet 1999; 36: 782-785. doi:10.1136/jmg.36.10.782 [Abstract] [Full text] [PDF] [Request Permissions]

	Schimke immuno-osseous dysplasia: case report and review of 25 patients Jorge M Saraiva, Alexandra Dinis, Cristina Resende, Emília Faria, Clara Gomes, A Jorge Correia, Júlia Gil, and Nicolau da Fonseca J Med Genet 1999; 36: 786-789. doi:10.1136/jmg.36.10.786 [Abstract] [Full text] [PDF] [Request Permissions]

	*A missense mutation in both hMSH2* and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening** ZHI QIANG YUAN, NORA WONG, WILLIAM D FOULKES, LESLEY ALPERT, FORTUNATO MANGANARO, CORINNE ANDREUTTI-ZAUGG, RICHARD IGGO, KIRA ANTHONY, EUGENE HSIEH, MARK REDSTON, LEONARD PINSKY, MARK TRIFIRO, PHILIP H GORDON, and DANA LASKO J Med Genet 1999; 36: 792-793. doi:10.1136/jmg.36.10.792 [Extract] [Full text] [Request Permissions]

	A PCR test for the detection of hypermethylated alleles at the retinoblastoma locus MICHAEL ZESCHNIGK, DIETMAR LOHMANN, and BERNHARD HORSTHEMKE J Med Genet 1999; 36: 793-794. doi:10.1136/jmg.36.10.793 [Extract] [Full text] [Request Permissions]

	Frequency and predictive value of 22q11 deletion JESSE LILING, IAN CROSS, JOHN BURN, C PAUL DANIEL, E JANET TAWN, and LOUISE PARKER J Med Genet 1999; 36: 794-795. doi:10.1136/jmg.36.10.794 [Extract] [Full text] [Request Permissions]

	Cardiac and skeletal actin gene mutations are not a common cause of dilated cardiomyopathy BONGANI M MAYOSI, SAIB S KHOGALI, BAIPING ZHANG, and HUGH WATKINS J Med Genet 1999; 36: 796-797. doi:10.1136/jmg.36.10.796 [Extract] [Full text] [Request Permissions]

	Subclinical cognitive impairment in autosomal dominant "pure" hereditary spastic paraplegia E REID, C GRAYSON, D C RUBINSZTEIN, M T ROGERS, and J S RUBINSZTEIN J Med Genet 1999; 36: 797-798. doi:10.1136/jmg.36.10.797 [Extract] [Full text] [Request Permissions]

	Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome HENDRIK VAN DEN BERG and RAOUL C M HENNEKAM J Med Genet 1999; 36: 799-800. doi:10.1136/jmg.36.10.799 [Extract] [Full text] [Request Permissions]