Genetic screening / counselling

A common founder for the 35delG GJB2gene mutation in connexin 26 hearing impairment
L Van Laer, P Coucke, R F Mueller, G Caethoven, K Flothmann, S D Prasad, G P Chamberlin, M Houseman, G R Taylor, C M Van de Heyning, E Fransen, J Rowland, R A Cucci, R J H Smith, G Van Camp

Journal of Medical Genetics Aug 2001, 38 (8) 515-518; DOI: 10.1136/jmg.38.8.515
A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterisedOTOF long isoforms
Mark J Houseman, Andrew P Jackson, Lihadh I Al-Gazali, Romina A Badin, Emma Roberts, Robert F Mueller

Journal of Medical Genetics Aug 2001, 38 (8) e25; DOI: 10.1136/jmg.38.8.e25
A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13gene
Wuh-Liang Hwu, Keiko Kobayashi, Ya-Hui Hu, Naoki Yamaguchi, Takeyori Saheki, Shi-Ping Chou, Jing-Houng Wang

Journal of Medical Genetics Jul 2001, 38 (7) e23; DOI: 10.1136/jmg.38.7.e23
Genetic analysis of the connexin-26 M34T variant
Andrew J Griffith

Journal of Medical Genetics Jul 2001, 38 (7) e24; DOI: 10.1136/jmg.38.7.e24
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, C Besmond

Journal of Medical Genetics May 2001, 38 (5) 310-311; DOI: 10.1136/jmg.38.5.310
Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism
M B Coulter-Mackie, J Rip, M J Beis, P Ferreira, M D Ludman

Journal of Medical Genetics May 2001, 38 (5) e15; DOI: 10.1136/jmg.38.5.e15
Rett syndrome and the MECP2 gene
Tessa Webb, Farida Latif

Journal of Medical Genetics Apr 2001, 38 (4) 217-223; DOI: 10.1136/jmg.38.4.217
Association of a novel constitutional translocation t(1q;3q) with familial renal cell carcinoma
Hiro-omi Kanayama, Weng-Onn Lui, Masayuki Takahashi, Takushi Naroda, Darek Kedra, Fung Ki Wong, Yoko Kuroki, Yutaka Nakahori, Catharina Larsson, Susumu Kagawa, Bin Tean Teh

Journal of Medical Genetics Mar 2001, 38 (3) 165-170; DOI: 10.1136/jmg.38.3.165
A partial deletion of the aspartoacylase gene is the cause of Canavan disease in a family from Mexico
FATMA ELA TAHMAZ, SIMA SAM, GEORGE E HOGANSON, FRANKLIN QUAN

Journal of Medical Genetics Mar 2001, 38 (3) e9; DOI: 10.1136/jmg.38.3.e9
Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients
Y Zhang, T Lundgren, S Renvert, D N Tatakis, E Firatli, C Uygur, P S Hart, M C Gorry, J J Marks, T C Hart

Journal of Medical Genetics Feb 2001, 38 (2) 96-101; DOI: 10.1136/jmg.38.2.96

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