A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-Like phenotype and investigation of SIM1 gene deletion in 87 patients with sindromic obesity
M. C. Varela C. A Kim; Débora Romeo Bertola; A. Y Simões-Sato; C. I. E Castro; Celia Priszkulnik Koiffmann; Annual Meeting of the American Society of Human Genetics (55. 2005 Salt Lake City, Utah, EUA)
Abstracts Salt Lake City, 2005
Salt Lake City 2005
Item não circula. Consulte sua biblioteca.(Acessar)
Is the Prader-Willi syndrome phenotype related to molecular mechanisms? A study of 75 patients
C. Varela Fernando Kok; Nuvarte Setian; C A Kim; Célia Priszkulnik Koiffmann; Annual Meeting of the American Society of Human Genetics (54. 2004 Toronto, Canadá)
Abstracts Toronto, 2004
Toronto 2004
Item não circula. Consulte sua biblioteca.(Acessar)
Síndrome de Prader-Willi 10 anos de investigação, diagnóstico e aconselhamento genético a 142 famílias
M. C. Varela E Cruvinel; R M Zanelato; Cintia Fridman; C. I. E Castro; Fernando Kok; C. A Kim; Célia Priszkulnik Koiffmann; Congresso Brasileiro de Genética (53. 2007 Águas de Lindóia, SP, Brasil)
Resumos Águas de Lindóia, 2007)
Águas de Lindóia 2007
Localização:
FM - Fac. Medicina
(BCSEP 355 2017 ) e outros locais(Acessar)
Is autosomal dominat nonsyndromic deafness in a Brazilian pedigree linked to DFNA7/DFNM1?
Karina Lezirovitz M. C. C Braga; Paulo A Otto; Regina Celia Mingroni Netto; Annual Meeting of the American Society of Human Genetics (52. 2002 Baltimore)
Abstracts v. 71, n. 4, suppl., p. 440 res.1575, oct. 2002
Baltimore 2002
Item não circula. Consulte sua biblioteca.(Acessar)
PLD2 affects the trafficking of glycoproteins in mast cells
Claudia Maria Meirelles Marchini Maria Célia Jamur; Constance Oliver; Annual Meeting of the American Society for Cell Biology (ASCB) (50. 2010 Philadelphia)
Abstracts Philadelphia, 2010
Philadelphia 2010
Localização:
FMRP - Fac. Medicina de Ribeirão Preto
(pcd 2149574 estantes deslizantes ) e outros locais(Acessar)
Prader-Willi-Like phenotype investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems
Carla Sustek D'Angelo José A. da Paz; Chong A Kim; Débora R Bertola; Cláudia Irene Emílio de Castro; Monica Castro Varela; Célia Priszkulnik Koiffmann; Annual Meeting of the American Society of Human Genetics (55. 2005 Salt Lake City, Utah, EUA)
Abstracts Salt Lake City, 2005
Salt Lake City 2005
Item não circula. Consulte sua biblioteca.(Acessar)