Siulan Vendramini Pittoli

Siulan Vendramini Pittoli

Universidade de São Paulo USP - São Paulo / Brazil
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 5377070
University of São Paulo USP
person_outline Siulan Vendramini Pittoli's MOST POPULAR ARTICLES
1-) Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literatureS Vendramini-Pittoli, NM Kokitsu-NakataClinical dysmorphology 18 (2), 67-77, 2009832009
2-) Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark earsCT Gordon, F Petit, PM Kroisel, L Jakobsen, RM Zechi-Ceide, M Oufadem, ...The American Journal of Human Genetics 93 (6), 1118-1125, 2013792013
3-) Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndromeA Kievit, F Tessadori, H Douben, I Jordens, M Maurice, J Hoogeboom, ...European journal of human genetics 26 (2), 210-219, 2018452018
4-) Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effectVL Romanelli Tavares, CT Gordon, RM Zechi-Ceide, NM Kokitsu-Nakata, ...European journal of human genetics 23 (4), 481-485, 2015362015
5-) Analysis of MLL2 gene in the first Brazilian family with Kabuki syndromeNM Kokitsu‐Nakata, AL Petrin, JP Heard, S Vendramini‐Pittoli, LE Henkle, ...American Journal of Medical Genetics Part A 158 (8), 2003-2008, 2012282012