Table of contents

Original articles

• 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