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Clinical Genetics update 73:5 (May 2008)

Written by admin on Apr 29th, 2008 | Filed under: genetics UPDATE

Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study

KB Sims, GM Pastores, NJ Weinreb, J Barranger, BE Rosenbloom, S Packman, P Kaplan, H Mankin, R Xavier, J Angell, MA Fitzpatrick D Rosenthal

pages 430–440

Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease

L Gojová, E Jansová, M Külm, S Pouchlá L Kozák

pages 441–452

Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis

M Barbaro, A Cicognani, A Balsamo, Å Löfgren, L Baldazzi, A Wedell M Oscarson

pages 453–464

ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations

J Brunet, S Gutiérrez-Enríquez, A Torres, V Bérez, S Sanjosé, J Galceran, À Izquierdo, JA Menéndez, J Gumà J Borràs

pages 465–473

Family history as a predictor of uptake of cancer preventive procedures by women with a BRCA1 or BRCA2 mutation

KA Metcalfe, WD Foulkes, C Kim-Sing, P Ainsworth, B Rosen, S Armel, A Poll, A Eisen, D Gilchrist, A Chudley, P Ghadirian, C Maugard, EG Lemire, P Sun SA Narod

pages 474–479

Huntington disease-like 2: the first patient with apparent European ancestry

C Santos, H Wanderley, L Vedolin, SDJ Pena, L Jardim J Sequeiros

pages 480–485


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