Sotos syndrome: microdeletions and intragenic mutations in the NSD1 gene studies

• Grant number: 05/52039-1
• Support Opportunities: Scholarships in Brazil - Master
• Start date: August 01, 2005
• End date: July 31, 2007
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Celia Priszkulnik Koiffmann
• Grantee: Claudia Quadros Fagali
• Host Institution: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Associated research grant: 98/14254-2 - The Human Genome Research Center, AP.CEPID

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

FAGALI, CLAUDIA; KOK, FERNANDO; NICOLA, PABLO; KIM, CHONG; BERTOLA, DEBORA; ALBANO, LILIAN; KOIFFMANN, CELIA P.. MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported. EUROPEAN JOURNAL OF MEDICAL GENETICS, v. 52, n. 5, p. 333-336, SEP-OCT 2009. (05/52039-1)

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

FAGALI, Claudia Quadros. Sotos syndrome: microdeletions and intragenic mutations in the NSD1 gene studies. 2008. Master's Dissertation - Universidade de São Paulo (USP). Instituto de Biociências (IBIOC/SB) São Paulo.