Reproductive medicine

Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients
A Rauch, K Devriendt, A Koch, R Rauch, M Gewillig, C Kraus, M Weyand, H Singer, A Reis, M Hofbeck

Journal of Medical Genetics Apr 2004, 41 (4) e40; DOI: 10.1136/jmg.2003.010975
Interstitial telomeres of an inv(9)(p11.2;q34) involved in a jumping translocation found in a woman through a stable unbalanced translocation in her malformed child
E Sala, N Villa, P Riva, T Varisco, L Larizza, L Dalprà

Journal of Medical Genetics Aug 2002, 39 (8) e42; DOI: 10.1136/jmg.39.8.e42
A frequent keratin 8 p.L227L polymorphism, but no point mutations in keratin 8 and 18 genes, in patients with various liver disorders
M Hesse, T Berg, B Wiedenmann, U Spengler, R P Woitas, T M Magin

Journal of Medical Genetics Apr 2004, 41 (4) e42; DOI: 10.1136/jmg.2003.012393
Genetic variation analysis of MLP, TFAP2A, and CSK in patients with neural tube defects
R Klootwijk, F A Hol, M Wu, J J H T Willemen, P Groenen, B Hamel, H Straatman, R P M Steegers-Theunissen, E C M Mariman, B Franke

Journal of Medical Genetics Apr 2003, 40 (4) e43; DOI: 10.1136/jmg.40.4.e43
FOXL2 mutation screening in a large panel of POF patients and XX males
E De Baere, B Lemercier, S Christin-Maitre, D Durval, L Messiaen, M Fellous, R Veitia

Journal of Medical Genetics Aug 2002, 39 (8) e43; DOI: 10.1136/jmg.39.8.e43
Exclusion of a disease relevant role of PAX4 in the aetiology of Silver-Russell syndrome: screening for mutations and determination of imprinting status
SUSANNE MERGENTHALER, KATJA EGGERMANN, JÜRGEN TOMIUK, MICHAEL B RANKE, HARTMUT A WOLLMANN, THOMAS EGGERMANN

Journal of Medical Genetics Dec 2000, 37 (12) e44; DOI: 10.1136/jmg.37.12.e44
Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects
Weilong Gong, Shoshanna Gottlieb, Joelle Collins, Adam Blescia, Harry Dietz, Elizabeth Goldmuntz, Donna M McDonald-McGinn, Elaine H Zackai, Beverly S Emanuel, Deborah A Driscoll, Marcia L Budarf

Journal of Medical Genetics Dec 2001, 38 (12) e45; DOI: 10.1136/jmg.38.12.e45
A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students
K Barlow-Stewart, L Burnett, A Proos, V Howell, F Huq, R Lazarus, H Aizenberg

Journal of Medical Genetics Apr 2003, 40 (4) e45; DOI: 10.1136/jmg.40.4.e45
Multifocal glomus tumours of the fingers in two patients with neurofibromatosis type 1
L De Smet, R Sciot, E Legius

Journal of Medical Genetics Aug 2002, 39 (8) e45; DOI: 10.1136/jmg.39.8.e45
Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction assay
L G Dietz, A A Wylie, K A Rauen, S K Murphy, R L Jirtle, P D Cotter

Journal of Medical Genetics Apr 2003, 40 (4) e46; DOI: 10.1136/jmg.40.4.e46

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