Search Results - "Tusset, Cintia"
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Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome
Published in Fertility and sterility (01-09-2013)“…Objective To investigate the role of KAL1 abnormalities in Brazilian patients with Kallmann syndrome. Design In vitro experiments. Setting Academic medical…”
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Clinical, laboratorial and radiographic predictors of Bordetella pertussis infection
Published in Revista Paulista de Pediatria (01-12-2014)“…OBJECTIVE: To identify clinical, laboratorial and radiographic predictors for Bordetella pertussis infection.METHODS: This was a retrospective study, which…”
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Mutational analysis of the necdin gene in patients with congenital isolated hypogonadotropic hypogonadism
Published in European journal of endocrinology (01-07-2011)“…ContextNecdin activates GNRH gene expression and is fundamental for the development, migration, and axonal extension of murine GNRH neurons. In humans, necdin…”
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Reduced serum concentrations of brain-derived neurotrophic factor (BDNF) in transsexual Brazilian men
Published in Neuroscience letters (06-09-2016)“…•Serum BDNF levels were significantly lower in transsexual men than in cis-sexual men and women.•There are many factors that may explain the variation observed…”
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TAC3/TACR3 Mutations Reveal Preferential Activation of Gonadotropin-Releasing Hormone Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood
Published in The journal of clinical endocrinology and metabolism (01-06-2010)“…Context: Mutations in TAC3 and TACR3 (encoding neurokinin B and its receptor) have been identified in Turkish patients with idiopathic hypogonadotropic…”
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Impact of mutations in kisspeptin and neurokinin B signaling pathways on human reproduction
Published in Brain research (10-12-2010)“…Abstract The involvement of kisspeptin and neurokinin in B pathways in the reproductive axis was first suspected by linkage analysis in consanguineous families…”
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New genetic factors implicated in human GnRH-dependent precocious puberty: The role of kisspeptin system
Published in Molecular and cellular endocrinology (22-10-2011)“…Human puberty is triggered by the reemergence of GnRH pulsatile secretion with progressive activation of the gonadal function. A number of genes have been…”
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TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH‐deficient patients
Published in The FASEB journal (01-04-2014)“…Neurokinin B (NKB) and its G‐protein‐coupled receptor, NK3R, have been implicated in the neuroendocrine control of GnRH release; however, little is known about…”
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Absence of functional LIN28B mutations in a large cohort of patients with idiopathic central precocious puberty
Published in Hormone research in paediatrics (01-01-2012)“…To investigate LIN28B gene variants in children with idiopathic central precocious puberty (CPP). We studied 178 Brazilian children with CPP (171 girls, 16.8%…”
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FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies
Published in Endocrine Connections (01-06-2015)“…The genetic aetiology of congenital hypopituitarism (CH) is not entirely elucidated. FGFR1 and PROKR2 loss-of-function mutations are classically involved in…”
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PCR as a Screening Test for Invasive Aspergillosis in Haematological Patients: A Pilot Study
Published in Mycopathologia (1975) (01-02-2014)“…Invasive aspergillosis is a leading cause of morbidity and mortality in immunocompromised patients, particularly in individuals with haematological malignancy…”
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Clinical, laboratorial and radiographic predictors of Bordetella pertussis infectionStudy conducted at Irmandade Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brazil
Published in Revista paulista de pediatria (01-12-2014)“…To identify clinical, laboratorial and radiographic predictors for Bordetella pertussis infection. This was a retrospective study, which analyzed medical…”
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Clinical, laboratorial and radiographic predictors of Bordetella pertussis infection
Published in Revista paulista de pediatria (01-12-2014)“…To identify clinical, laboratorial and radiographic predictors for Bordetella pertussis infection. This was a retrospective study, which analyzed medical…”
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Insatisfação com a imagem corporal e fatores associados em mulheres do sul do Brasil
Published in Ciência & saúde (24-11-2016)“…Objetivo: Associar a insatisfação com a imagem corporal (IC) com fatores sócio demográficos, estado nutricional e transtornos alimentares em mulheres adultas…”
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TAC3/TACR3 Mutations Reveal Preferential Activation of GnRH Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood
Published in Endocrine reviews (01-04-2010)“…ContextMutations in TAC3 and TACR3 (encoding neurokinin B and its receptor) have been identified in Turkish patients with hypogonadotropic hypogonadism (IHH),…”
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TAC3/TACR3 Mutations Reveal Preferential Activation of GnRH Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood
Published in Endocrinology (Philadelphia) (01-04-2010)Get full text
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Baroreflex sensitivity and oxidative stress in the LDL receptor knockout mice
Published in Experimental and toxicologic pathology : official journal of the Gesellschaft für Toxikologische Pathologie (01-08-2008)“…This study aims at observing the effect of low-density lipoprotein (LDL) receptor deficiency in cholesterol blood levels, baroreflex sensitivity (BRS), nitric…”
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