Surgery

Renoprotective efficacy of renin–angiotensin inhibitors in IgA nephropathy is influenced by ACE A2350G polymorphism
I Narita, S Goto, N Saito, J Song, K Omori, D Kondo, M Sakatsume, F Gejyo

Journal of Medical Genetics Dec 2003, 40 (12) e130; DOI: 10.1136/jmg.40.12.e130
Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS?
S Jacquemont, A Orrico, L Galli, P K Sahota, J A Brunberg, C Anichini, M Leehey, S Schaeffer, R J Hagerman, P J Hagerman, F Tassone

Journal of Medical Genetics Feb 2005, 42 (2) e14; DOI: 10.1136/jmg.2004.024190
Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease
Y M Smulders, B H J Eussen, S Verhoef, C H Wouters

Journal of Medical Genetics Feb 2003, 40 (2) e17; DOI: 10.1136/jmg.40.2.e17
Mitochondrial DNA deletion in “identical” twin brothers
E L Blakely, L He, R W Taylor, P F Chinnery, R N Lightowlers, A M Schaefer, D M Turnbull

Journal of Medical Genetics Feb 2004, 41 (2) e19; DOI: 10.1136/jmg.2003.011296
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
Agenesis of cruciate ligaments and menisci causing severe knee dysplasia in TAR syndrome
Delphine Héron, Christian Bonnard, Claude Moraine, Annick Toutain

Journal of Medical Genetics Aug 2001, 38 (8) e27; DOI: 10.1136/jmg.38.8.e27
Xp;Yp translocation inherited from the father in anSRY, RBM, andTSPY positive true hermaphrodite with oligozoospermia
LUCJUSZ JAKUBOWSKI, ANNA JEZIOROWSKA, MARIA CONSTANTINOU, ZOFIA HELSZER, ANNETTE BAUMSTARK, WALTHER VOGEL, DIANA MIKIEWICZ-SYGULA, BOGDAN KAULZEWSKI

Journal of Medical Genetics Oct 2000, 37 (10) e28; DOI: 10.1136/jmg.37.10.e28
RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene
S Shepherd, F Ellis, J Halsall, P Hopkins, R Robinson

Journal of Medical Genetics Mar 2004, 41 (3) e33; DOI: 10.1136/jmg.2003.014274
Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy
MICHEALA A ALDRED, R JANE BAGSHAW, KAY MACDERMOT, DAVID CASSON, SIMON H MURCH, J A WALKER-SMITH, RICHARD C TREMBATH

Journal of Medical Genetics Nov 2000, 37 (11) e35; DOI: 10.1136/jmg.37.11.e35
Clinical presentation in female patients with Fabry disease
N Guffon

Journal of Medical Genetics Apr 2003, 40 (4) e38; DOI: 10.1136/jmg.40.4.e38

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