Bettina E Mucha Le Ny

Bettina E Mucha Le Ny

Université de Montréal - Montreal / Canada
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 655875
University of Montreal
person_outline Bettina E Mucha Le Ny's MOST POPULAR ARTICLES
1-) Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversibleB Hinkes, RC Wiggins, R Gbadegesin, CN Vlangos, D Seelow, ...Nature genetics 38 (12), 1397-1405, 20066132006
2-) Nephrotic Syndrome in the First Year of Life: Two Thirds of Cases Are Caused by Mutations in 4 Genes (NPHS1, NPHS2, WT1, and LAMB2)BG Hinkes, B Mucha, CN Vlangos, R Gbadegesin, J Liu, K Hasselbacher, ...Pediatrics 119 (4), e907-e919, 20075572007
3-) Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndromeRG Ruf, A Lichtenberger, SM Karle, JP Haas, FE Anacleto, M Schultheiss, ...Journal of the American Society of Nephrology 15 (3), 722-732, 20045562004
4-) Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disordersK Hasselbacher, RC Wiggins, V Matejas, BG Hinkes, B Mucha, ...Kidney international 70 (6), 1008-1012, 20062352006
5-) Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndromeRG Ruf, M Schultheiss, A Lichtenberger, SM Karle, I Zalewski, B Mucha, ...Kidney international 66 (2), 564-570, 20041872004