Journal of Medical Genetics: 36 (10)

Editorial

The future JMG: www.jmedgenet.com
(1 October, 1999) Free
EAMONN R MAHER

Review article

Mutational analysis using oligonucleotide microarrays (1 October, 1999) Free
Joseph G Hacia, Francis S Collins

Commentary

Closing time for CATCH22 (1 October, 1999) Free
John Burn

Original article

A molecular investigation of true dominance in Huntington’s disease (1 October, 1999) Free
Yolanda Narain, Andreas Wyttenbach, Julia Rankin, Robert A Furlong, David C Rubinsztein
A highly accurate, low cost test forBRCA1 mutations
(1 October, 1999) Free
Nathalie J van Orsouw, Rahul K Dhanda, Youssef Elhaji, Steven A Narod, Frederick P Li, Charis Eng, Jan Vijg
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 (1 October, 1999) Free
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, Jozef Gecz
X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27 (1 October, 1999) Free
Arnold L Christianson, Roger E Stevenson, C H van der Meyden, Julie Pelser, Francois W Theron, Petro L van Rensburg, Michael Chandler, Charles E Schwartz
Microdeletions in FMR2 may be a significant cause of premature ovarian failure
(1 October, 1999) Free
Anna Murray, James Webb, Nick Dennis, Gerard Conway, Newton Morton
Specific polymorphisms in the RETproto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression
(1 October, 1999) Free
Salud Borrego, María Eugenia Sáez, Agustín Ruiz, Oliver Gimm, Manuel López-Alonso, Guillermo Antiñolo, Charis Eng

Short report

Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome
(1 October, 1999) Free
S Manouvrier-Hanu, J Amiel, S Jacquot, K Merienne, A Moerman, A Coëslier, F Labarriere, L Vallée, M F Croquette, A Hanauer
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders
(1 October, 1999) Free
Nobuyuki Shimozawa, Atsushi Imamura, Zhongyi Zhang, Yasuyuki Suzuki, Tadao Orii, Toshiro Tsukamoto, Takashi Osumi, Yukio Fujiki, Ronald J A Wanders, Guy Besley, Naomi Kondo
Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype (1 October, 1999) Free
Roel Hordijk, Henk Wierenga, Hans Scheffer, Beike Leegte, Robert M W Hofstra, Irene Stolte-Dijkstra
Schimke immuno-osseous dysplasia: case report and review of 25 patients (1 October, 1999) Free
Jorge M Saraiva, Alexandra Dinis, Cristina Resende, Emília Faria, Clara Gomes, A Jorge Correia, Júlia Gil, Nicolau da Fonseca

Letters to the editor

A missense mutation in both hMSH2 andAPC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening
(1 October, 1999) Free
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, DANA LASKO
A PCR test for the detection of hypermethylated alleles at the retinoblastoma locus (1 October, 1999) Free
MICHAEL ZESCHNIGK, DIETMAR LOHMANN, BERNHARD HORSTHEMKE
Frequency and predictive value of 22q11 deletion (1 October, 1999) Free
JESSE LILING, IAN CROSS, JOHN BURN, C PAUL DANIEL, E JANET TAWN, LOUISE PARKER
Cardiac and skeletal actin gene mutations are not a common cause of dilated cardiomyopathy (1 October, 1999) Free
BONGANI M MAYOSI, SAIB S KHOGALI, BAIPING ZHANG, HUGH WATKINS
Subclinical cognitive impairment in autosomal dominant “pure” hereditary spastic paraplegia (1 October, 1999) Free
E REID, C GRAYSON, D C RUBINSZTEIN, M T ROGERS, J S RUBINSZTEIN
Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome (1 October, 1999) Free
HENDRIK VAN DEN BERG, RAOUL C M HENNEKAM

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Table of contents

October 1999 - Volume 36 - 10

Editorial

Review article

Commentary

Original article

Short report

Letters to the editor

Issue Information

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Table of contents

October 1999 - Volume 36 - 10

Editorial

Review article

Commentary

Original article

Short report

Letters to the editor

Issue Information