Clinical diagnostic tests

Twenty CAG repeats are sufficient to cause the SCA6 phenotype
Katsuhide Komeichi, Hidenao Sasaki, Ichiro Yabe, Isao Yamashita, Seiji Kikuchi, Kunio Tashiro

Journal of Medical Genetics Nov 2001, 38 (11) e38; DOI: 10.1136/jmg.38.11.e38
The expanding phenotype of laminin α2 chain (merosin) abnormalities: case series and review
Kristi J Jones, Graeme Morgan, Heather Johnston, Vivienne Tobias, Robert A Ouvrier, Ian Wilkinson, Kathryn N North

Journal of Medical Genetics Oct 2001, 38 (10) 649-657; DOI: 10.1136/jmg.38.10.649
An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality
N L Shannon, E L Maltby, A S Rigby, O W J Quarrell

Journal of Medical Genetics Oct 2001, 38 (10) 674-679; DOI: 10.1136/jmg.38.10.674
A case of ring chromosome 2 with growth retardation, mild dysmorphism, and microdeletion of 2p detected using FISH
Sarah L Dee, Andrew T Clark, Lionel R Willatt, John R W Yates

Journal of Medical Genetics Sep 2001, 38 (9) e32; DOI: 10.1136/jmg.38.9.e32
VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality
Bernhard U Bender, Charis Eng, Manfred Olschewski, Dietmar P Berger, Jörg Laubenberger, Carsten Altehöfer, Günter Kirste, Miro Orszagh, Vera van Velthoven, Henning Miosczka, Dieter Schmidt, Hartmut P H Neumann

Journal of Medical Genetics Aug 2001, 38 (8) 508-514; DOI: 10.1136/jmg.38.8.508
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
Does Bardet-Biedl syndrome have a characteristic face?
Isabel Lorda-Sanchez, Carmen Ayuso, Raul Sanz, Angeles Ibañez

Journal of Medical Genetics May 2001, 38 (5) e14; DOI: 10.1136/jmg.38.5.e14
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
Angelman syndrome phenotype associated with mutations inMECP2, a gene encoding a methyl CpG binding protein
Pamela Watson, Graeme Black, Simon Ramsden, Margaret Barrow, Maurice Super, Bronwyn Kerr, Jill Clayton-Smith

Journal of Medical Genetics Apr 2001, 38 (4) 224-228; DOI: 10.1136/jmg.38.4.224
A new case of exomphalos, short limbs, and macrogonadism syndrome
G VIOT, E PANNIER, L FAIVRE, J TANTAU, C FALLET-BIANCO, J M DUPONT, P JOUANNET, M C AUBRY, S LYONNET, D CABROL

Journal of Medical Genetics Mar 2001, 38 (3) e8; DOI: 10.1136/jmg.38.3.e8

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