Clinical genetics

No association between the EN2 gene and autistic disorder
H Zhong, F J Serajee, R Nabi, A H M Mahbubul Huq

Journal of Medical Genetics Jan 2003, 40 (1) e4; DOI: 10.1136/jmg.40.1.e4
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
Detection of a large TBX5 deletion in a family with Holt-Oram syndrome
Seyed M Akrami, Robin M Winter, J David Brook, John A L Armour

Journal of Medical Genetics Dec 2001, 38 (12) e44; DOI: 10.1136/jmg.38.12.e44
A breast cancer family from Spain with germline mutations in both the BRCA1 and BRCA2 genes
T Caldes, M de la Hoya, A Tosar, S Sulleiro, J Godino, D Ibañez, M Martin, P Perez-Segura, E Diaz-Rubio

Journal of Medical Genetics Aug 2002, 39 (8) e44; DOI: 10.1136/jmg.39.8.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
Spastin gene mutation in Japanese with hereditary spastic paraplegia
I Yabe, H Sasaki, K Tashiro, T Matsuura, T Takegami, T Satoh

Journal of Medical Genetics Aug 2002, 39 (8) e46; DOI: 10.1136/jmg.39.8.e46
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11–17 distinct from the GAP related domain
C Mattocks, D Baralle, P Tarpey, C ffrench-Constant, M Bobrow, J Whittaker

Journal of Medical Genetics Apr 2004, 41 (4) e48; DOI: 10.1136/jmg.2003.011890
Genetic correlation between plasma levels of C4BP isoforms containing β chains and susceptibility to thrombosis
J Esparza-Gordillo, J M Soria, A Buil, J C Souto, L Almasy, J Blangero, S R de Córdoba, J Fontcuberta

Journal of Medical Genetics Jan 2004, 41 (1) e5; DOI: 10.1136/jmg.2003.010611
Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome
A Baumstark, K M Lower, A Sinkus, I Andriuškevičiūtė, L Jurkėnienė, J Gécz, W Just

Journal of Medical Genetics Apr 2003, 40 (4) e50; DOI: 10.1136/jmg.40.4.e50
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients
M C Walter, J A Petersen, R Stucka, D Fischer, R Schröder, M Vorgerd, A Schroers, H Schreiber, C O Hanemann, U Knirsch, A Rosenbohm, A Huebner, N Barisic, R Horvath, S Komoly, P Reilich, W Müller-Felber, D Pongratz, J S Müller, E A Auerswald, H Lochmüller

Journal of Medical Genetics Apr 2004, 41 (4) e50; DOI: 10.1136/jmg.2003.013953

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