UAB Digital Repository of Documents 2 records found  Search took 0.02 seconds. 
10 p, 459.9 KB The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis : toward an international consensus / Girardet, Anne (Unité INSERM U827) ; Viart, Victoria (Unité INSERM U827) ; Plaza, Stéphanie (Unité INSERM U827) ; Daina Noves, Gemma (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; De Rycke, Martine (Center for Medical Genetics UZ Brussel) ; Des Georges, Marie (Unité INSERM U827) ; Fiorentino, Francesco (Genoma Laboratories) ; Harton, Gary (Reprogenetics) ; Ishmukhametova, Aliya (Unité INSERM U827) ; Navarro i Ferreté, Joaquima (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Raynal, Caroline (Unité INSERM U827) ; Renwick, Pamela (Center for Preimplantation Genetic Diagnosis, Guy's and St Thomas' NHS Foundation Trust) ; Saguet, Florielle (Unité INSERM U827) ; Schwarz, Martin (Manchester Centre for Genomic Medicine) ; SenGupta, Sioban (UCL Center for PGD, Institute for Women's Health, University College London) ; Tzetis, Maria (Department of Medical Genetics, University of Athens) ; Roux, Anne-Françoise (Unité INSERM U827) ; Claustres, Mireille (Unité INSERM U827)
Cystic fibrosis (CF) is one of the most common indications for preimplantation genetic diagnosis (PGD) for single gene disorders, giving couples the opportunity to conceive unaffected children without having to consider termination of pregnancy. [...]
2015 - 10.1038/ejhg.2015.99
European Journal of Human Genetics, Vol. 24 (May 2015) , p. 469-478  
8 p, 444.5 KB Targeted next-generation sequencing in steroid-resistant nephrotic syndrome : mutations in multiple glomerular genes may influence disease severity / Bullich Vilanova, Gemma (Institut d'Investigació Biomèdica Sant Pau) ; Trujillano, Daniel (CIBER in Epidemiology and Public Health (CIBERESP)) ; Santín, Sheila (Institut d'Investigació Biomèdica Sant Pau) ; Ossowski, Stephan (Genomic and Epigenomic Variation in Disease Group, Centre for Genomic Regulation (CRG)) ; Mendizábal, Santiago (Pediatric Nephrology Department, Hospital Universitario La Fe) ; Fraga, Gloria (Pediatric Nephrology Department, Hospital de la Santa Creu i Sant Pau) ; Madrid, Álvaro (Pediatric Nephrology Department, Hospital Vall d'Hebron) ; Ariceta, Gema (Pediatric Nephrology Department, Hospital Vall d'Hebron) ; Ballarín Castan, José Aurelio (Institut d'Investigació Biomèdica Sant Pau) ; Torra Balcells, Roser (NInstitut d'Investigació Biomèdica Sant Pau) ; Estivill, Xavier (CIBER in Epidemiology and Public Health (CIBERESP)) ; Ars Criach, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Instituto de Salud Carlos III
Genetic diagnosis of steroid-resistant nephrotic syndrome (SRNS) using Sanger sequencing is complicated by the high genetic heterogeneity and phenotypic variability of this disease. We aimed to improve the genetic diagnosis of SRNS by simultaneously sequencing 26 glomerular genes using massive parallel sequencing and to study whether mutations in multiple genes increase disease severity. [...]
2014 - 10.1038/ejhg.2014.252
European Journal of Human Genetics, Vol. 23 (november 2014) , p. 1192-1199  

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