Browsing by Author Della Manna, Thais

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 1 to 7 of 7
Issue DateTitleAuthor(s)
18-Feb-2015Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic HypoglycemiaLiberatore, Raphael Del Roio; Ramos, Priscila Manzini; Guerra, Gil; Della Manna, Thais; Silva, Ivani Novato [UNIFESP]; Martinelli Junior, Carlos Eduardo; Universidade de São Paulo (USP); Universidade Federal de São Paulo (UNIFESP); Universidade Federal de Minas Gerais (UFMG)
1-Nov-2008Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) geneDella Manna, Thais; Battistim, Claudilene; Radonsky, Vanessa; Savoldelli, Roberta Diaz; Damiani, Durval; Kok, Fernando; Pearson, Ewan R.; Ellard, Sian; Hattersley, Andrew T.; Reis, André Fernandes [UNIFESP]; Universidade de São Paulo (USP); Fleury Medicina e Saúde; Ninewells Hospital & Medical School Biomedical Research Institute; Royal Devon and Exeter Hospital Centre for Molecular Genetics at the Peninsula Medical School Diabetes Research department; Universidade Federal de São Paulo (UNIFESP)
1-Feb-2009Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndromeGasparin, Maria Regina R. [UNIFESP]; Crispim, Felipe [UNIFESP]; Paula, Silvia L.; Freire, Maria Beatriz S.; Dalbosco, Ivaldir Sabino [UNIFESP]; Della Manna, Thais; Salles, Joao Eduardo N.; Gasparin, Fabio; Guedes, Alexis [UNIFESP]; Marcantonio, Joao M.; Gambini, Marcio; Salim, Camila P. [UNIFESP]; Moises, Regina S. [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Universidade Federal de Goiás (UFG); Med Sch Jundiai; Univ Fdn Rio Grande; Universidade de São Paulo (USP); Med Sch Santa Casa São Paulo
1-May-2013A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian familiesGiuffrida, Fernando M. A. [UNIFESP]; Calliari, Luis Eduardo; Della Manna, Thais; Ferreira, Joao Guimaraes [UNIFESP]; Saddi-Rosa, Pedro [UNIFESP]; Kunii, Ilda S. [UNIFESP]; Furuzawa, Gilberto K. [UNIFESP]; Dias-da-Silva, Magnus R. [UNIFESP]; Reis, Andre F. [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Ctr Endocrinol Estado Bahia CEDEBA; Santa Casa de Misericordia; Universidade de São Paulo (USP)
1-Dec-2004Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptorMiyashiro, Kozue [UNIFESP]; Kunii, Ilda Shizue [UNIFESP]; Della Manna, Thais; Menezes, Hamilton C. de; Damiani, Durval; Setian, Nuvarte; Hauache, Omar Magid [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Universidade de São Paulo (USP)
1-Nov-2014Three unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODYWeinert, Leticia S.; Silveiro, Sandra P.; Giuffrida, Fernando M. A.; Cunha, Vivian T.; Bulcao, Caroline; Calliari, Luis Eduardo; Della Manna, Thais; Kunii, Ilda S. [UNIFESP]; Dotto, Renata P. [UNIFESP]; Dias-da-Silva, Magnus R. [UNIFESP]; Reis, Andre F. [UNIFESP]; Univ Fed Rio Grande Sul UFRGS; Ctr Endocrinol Estado Bahia CEDEBA; Univ Estado Bahia UNEB; Santa Casa Misericordia; Universidade de São Paulo (USP); Universidade Federal de São Paulo (UNIFESP)
1-May-2011Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndromeReis, Andre F. [UNIFESP]; Kannengiesser, Caroline; Jennane, Farida; Della Manna, Thais; Cheurfa, Nadir; Oudin, Claire; Savoldelli, Roberta Diaz; Oliveira, Carolina [UNIFESP]; Grandchamp, Bernard; Kok, Fernando; Velho, Gilberto; Universidade Federal de São Paulo (UNIFESP); Hop Bichat Claude Bernard; Univ Paris 07; Hop Enfants; Universidade de São Paulo (USP); INSERM; Fleury Med & Saude