Journal of Medical Genetics: 45 (7)

Review

Towards more effective and equitable genetic testing for BRCA1 and BRCA2 mutation carriers (2 May, 2008)
John L Hopper, James G Dowty, Carmel Apicella, Melissa C Southey, Graham G Giles, Ingrid Winship

Heterogeneity in the processing defect of SLC26A4 mutants (29 February, 2008)
J S Yoon, H-J Park, S-Y Yoo, W Namkung, M J Jo, S K Koo, H-Y Park, W-S Lee, K H Kim, M G Lee
Identification of a 2244 base pair interstitial deletion within the human ESR1 gene in the Spanish population (18 April, 2008)
J Jorge Galan, B Buch, S Pedrinaci, P Jimenez-Gamiz, A Gonzalez, M Serrano-Rios, A Salinas, M del Carmen Rivero, L M Real, J L Royo, A Ruiz
Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics (15 April, 2008)
A C Antoniou, R Hardy, L Walker, D G Evans, A Shenton, R Eeles, S Shanley, G Pichert, L Izatt, S Rose, F Douglas, D Eccles, P J Morrison, J Scott, R L Zimmern, D F Easton, P D P Pharoah
Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes (15 April, 2008)
S Monfort, M Roselló, C Orellana, S Oltra, D Blesa, K Kok, I Ferrer, J C Cigudosa, F Martínez
Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene (18 April, 2008)
C Bonnet, S Krieger, M Vezain, A Rousselin, I Tournier, A Martins, P Berthet, A Chevrier, C Dugast, V Layet, A Rossi, R Lidereau, T Frébourg, A Hardouin, M Tosi

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy (1 July, 2008)
R Mineri, M Rimoldi, A B Burlina, S Koskull, C Perletti, B Heese, U von Döbeln, P Mereghetti, I Di Meo, F Invernizzi, M Zeviani, G Uziel, V Tiranti

Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan (1 July, 2008)
H Kuniba, M Tsuda, M Nakashima, S Miura, N Miyake, T Kondoh, T Matsumoto, H Moriuchi, H Ohashi, K Kurosawa, H Tonoki, T Nagai, N Okamoto, M Kato, Y Fukushima, K Naritomi, N Matsumoto, A Kinoshita, K-i Yoshiura, N Niikawa