Browsing by Author Kok, Fernando

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Showing results 1 to 10 of 10
Issue DateTitleAuthor(s)
1-May-2015Association of optic atrophy and type 1 diabetes: clinical hallmarks for the diagnosis of Wolfram syndromePedroso, Jose Luiz [UNIFESP]; Lucato, Leandro Tavares; Kok, Fernando; Sallum, Juliana [UNIFESP]; Barsottini, Orlando G. P. [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Universidade de São Paulo (USP); Ctr Diagnost Brasil; Mendelics Anal Genom
1-Dec-2010Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophyArtigalas, Osvaldo; Lagranha, Valeska Lizzi; Saraiva-Pereira, Maria Luiza; Burin, Maira Graeff; Lourenco, Charles Marques; Van der Linden, Helio; Santos, Mara Lucia Ferreira; Rosemberg, Sergio; Steiner, Carlos Eduardo; Kok, Fernando; De Souza, Carolina F. Moura; Jardim, Laura B.; Giugliani, Roberto; Schwartz, Ida Vanessa; HCPA; Univ Fed Rio Grande do Sul; Universidade de São Paulo (USP); Ctr Disabil & Rehabil Dr Henr Santillo; Hosp Pequeno Principe Hosp; Universidade Federal de São Paulo (UNIFESP); Universidade Estadual de Campinas (UNICAMP); Hosp Clin Porto Alegre
3-Mar-2015Fatty acid 2-hydroxylase deficiency Clinical features and brain iron accumulationPedroso, Jose Luiz [UNIFESP]; Handfas, Benjamin W.; Abrahão, Agessandro [UNIFESP]; Kok, Fernando; Barsottini, Orlando Graziani Povoas [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Hosp Israelita Albert Einstein; Mendel Genom Anal
1-Sep-2009Genotype-phenotype correlation in Brazillian Rett syndrome patientsLima, Fernanda T. de; Brunoni, Decio [UNIFESP]; Schwartzman, José Salomão; Pozzi, Maria Cristina; Kok, Fernando; Juliano, Yara; Pereira, Lygia da Veiga; Universidade Federal de São Paulo (UNIFESP); Universidade Presbiteriana Mackenzie Programa de Pós-Graduação em Distúrbios do Desenvolvimento; Universidade de Santo Amaro; Universidade de São Paulo (USP)
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-Sep-2009MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reportedFagali, Claudia; Kok, Fernando; Nicola, Pablo [UNIFESP]; Kim, Chong; Bertola, Debora; Albano, Lilian; Koiffmann, Celia P.; Universidade de São Paulo (USP); Universidade Federal de São Paulo (UNIFESP)
1-Jan-2012MSX2 copy number increase and craniosynostosis: copy number variation detected by array comparative genomic hybridizationPelegrino, Karla de Oliveira; Sugayama, Sofia; Lezirovitz, Karina; Catelani, Ana Lucia; Kok, Fernando; Chauffaille, Maria de Lourdes; Grp Fleury; Universidade Federal de São Paulo (UNIFESP); Universidade de São Paulo (USP)
2016One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementiaAbrahao, Agessandro [UNIFESP]; Neto, Osorio Abath; Kok, Fernando; Zanoteli, Edmar; Santos, Bibiana; Vieira de Rezende Pinto, Wladimir Bocca [UNIFESP]; Povoas Barsottini, Orlando Graziani [UNIFESP]; Bulle Oliveira, Acary Souza [UNIFESP]; Pedroso, Jose Luiz [UNIFESP]
2014T-Cell-Replete Haploidentical Stem Cell Transplantation with Post-Transplant Cyclophosphamide for Patients with X-Linked Adrenoleukodystrophy: An Immediate Choice for an Urgent SituationFernandes, Juliana; Bonfim, Carmem; Kerbauy, Fábio Rodrigues [UNIFESP]; Rodrigues, Morgani; Almeida, Alessandro de Moura; Esteves, Iracema; Kutner, Jose Mauro; Ribeiro, Andreza Feitosa; Kok, Fernando; Hamerschlak, Nelson; 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