Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Denise M Christofolini"'
Autor:
Alzira A S Carvalho, Denise M Christofolini, Matheus M Perez, Beatriz C A Alves, Itatiana Rodart, Francisco W S Figueiredo, Karine C Turke, David Feder, Marcondes C F Junior, Ana M Nucci, Fernando L A Fonseca
Publikováno v:
PLoS ONE, Vol 15, Iss 7, p e0236597 (2020)
IntroductionMcArdle disease presents clinical and genetic heterogeneity. There is no obvious association between genotype and phenotype. PYGM (muscle glycogen phosphorylase gene) mRNA expression and its association with clinical, morphological, and g
Externí odkaz:
https://doaj.org/article/d2eaaf581be74b1383bbd54100a805ad
Autor:
Vanessa K Ota, Fernanda T Bellucco, Ary Gadelha, Marcos L Santoro, Cristiano Noto, Denise M Christofolini, Idaiane B Assunção, Karen M Yamada, Andrea K Ribeiro-dos-Santos, Sidney Santos, Jair J Mari, Marília A C Smith, Maria I Melaragno, Rodrigo A Bressan, João R Sato, Andrea P Jackowski, Sintia I Belangero
Publikováno v:
PLoS ONE, Vol 9, Iss 2, p e87686 (2014)
Schizophrenia is a neurodevelopmental disorder with high heritability. Several lines of evidence indicate that the PRODH gene may be related to the disorder. Therefore, our study investigates the effects of 12 polymorphisms of PRODH on schizophrenia
Externí odkaz:
https://doaj.org/article/f9b52f005058451ca42fb9b03a07d468
Autor:
Camila M. Trevisan, Erik Montagna, Renato de Oliveira, Denise M. Christofolini, Caio P. Barbosa, Keith A. Crandall, Bianca Bianco
Publikováno v:
Cellular Physiology and Biochemistry, Vol 49, Iss 4, Pp 1259-1276 (2018)
Kisspeptin is involved in the control of human reproduction bridging the gap between the sex steroid levels and feedback mechanisms that control the gonadotropin releasing hormone (GnRH) secretion; however, studies considering this peptide and infert
Externí odkaz:
https://doaj.org/article/2294db6088df43c183812d9cb9fb64ba
Autor:
Carla Peluso, Fernando L.A. Fonseca, Guilherme G. Gastaldo, Denise M. Christofolini, Emerson Barchi Cordts, Caio P. Barbosa, Bianca Bianco
Publikováno v:
Cellular Physiology and Biochemistry, Vol 35, Iss 4, Pp 1401-1412 (2015)
Background: In human assisted reproduction, the ovarian response to exogenous recombinant Follicle-stimulating Hormone (FSH) therapy is variable and difficult to predict. The standard protocol of ovarian hyperstimulation can result in satisfactory re
Externí odkaz:
https://doaj.org/article/2a8e0291aafa41589d67fbcbfd635821
Autor:
Tarciana Guedes, Aline A Santos, Felipe H Vieira-Neto, Bianca Bianco, Caio P Barbosa, Denise M Christofolini
Publikováno v:
Biomarkers in medicine. 16(7)
Background: Homocysteine levels can be impacted by enzymes variations. Aim: To correlate MTHFR, MTR and MTRR variants with homocysteine levels in the blood and follicular fluid and assisted reproduction results. Material & methods: MTHFR (rs2274976,
Autor:
Fernanda A. Mafra, Denise M. Christofolini, Bianca Bianco, Marcello M. Gava, Sidney Glina, Sintia I. N. Belangero, Caio P. Barbosa
Publikováno v:
International Brazilian Journal of Urology, Vol 37, Iss 2, Pp 244-251 (2011)
PURPOSE: To determine the frequency of genetic alterations in a population of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia. MATERIALS AND METHODS: Retrospective study of a group of 143 infertile men with severe o
Externí odkaz:
https://doaj.org/article/b21fb530560b419eb9d5b24c895afe6c
Autor:
Sintia Iole Nogueira Belangero, Fernanda T.S. Bellucco, Leslie Domenici Kulikowski, Denise M. Christofolini, Mirlene C. S. P. Cernach, Maria Isabel Melaragno
Publikováno v:
Arquivos Brasileiros de Cardiologia, Vol 92, Iss 4, Pp 307-311 (2009)
FUNDAMENTO: A síndrome da deleção 22q11.2 é a mais freqüente síndrome de microdeleção humana. O fenótipo é altamente variável e caracterizado por defeito cardíaco conotruncal, dismorfias faciais, insuficiência velofaríngea, dificuldade
Externí odkaz:
https://doaj.org/article/7b779fe11dc24ca8bdbc075f7c1af127
Autor:
Denise M. Christofolini, Monica V.N. Lipay, Marco Antonio P. Ramos, Silvia S. Costa, Fernanda T.S. Bellucco, Sintia I. Nogueira, Leslie D. Kulikowski, Décio Brunoni, Maria Isabel Melaragno
Publikováno v:
Genetics and Molecular Biology, Vol 30, Iss 4, Pp 1047-1050 (2007)
Fragile X syndrome is the most frequent cause of inherited mental retardation. The phenotype in this syndrome is quite variable and less conspicuous in younger patients, making clinical diagnosis difficult and thus making molecular diagnosis necessar
Externí odkaz:
https://doaj.org/article/c0cf83b0ca304c2cb0b6f0727ed7efdd
Autor:
Rubens P, Gonçalves-Filho, Ariel, Brandes, Denise M, Christofolini, Tatiana G, Lerner, Bianca, Bianco, Caio P, Barbosa
Publikováno v:
Acta obstetricia et gynecologica Scandinavica. 90(5)
To evaluate PAI-1 genotypes in a group of infertile women with or without endometriosis and control subjects.Case-control study.Human Reproduction Center of Medicina do ABC Faculty.One hundred and forty infertile women with endometriosis, 64 women wi
Autor:
Fabiane M C S, Gomes, Bianca, Bianco, Juliana S, Teles, Denise M, Christofolini, Angela M B, de Souza, Alexis D, Guedes, Caio P, Barbosa
Publikováno v:
American journal of reproductive immunology (New York, N.Y. : 1989). 63(3)
Endometriosis has been suggested to be an autoimmune disease and recently, an allelic variation of the PTPN22 (C1858T) gene was revealed to be associated with the development of autoimmunity. The aim of the study was to determine the frequency of the