Browsing by Author "XX676280"
Now showing items 21-40 of 81
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Iñíguez Vila, Germán; Gallardo, P.; García Mora, Mirna; Johnson, C.; Cassorla Goluboff, Fernando; Mericq, Verónica (Karger, 2015)
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Grinspon, R.; Hernández Cárdenas, María Isabel; Ruiz Reyes, M.; Gottlieb, S.; Keselman, A.; Kraus, J.; Morales, M.; Pipman, V.; Alonso, G.; Martínez, A.; Jasper, H.; Cassinelli, H.; Calzada León, R.; Cassorla Goluboff, Fernando; Rey, R. (Karger, 2015)
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Linares Moreno, J.; Espinoza, A.; Riquelme, J.; Ávila, A.; Cassorla Goluboff, Fernando (Karger, 2015)
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Goncalves, Fernanda T.; Fridman, Cintia; Pinto, Emília M.; Guevara Aguirre, Jaime; Shevah, Orit; Rosembloom, Arlan L.; Hwa, Vivian; Cassorla Goluboff, Fernando; Rosenfeld, Ron G.; Lins, Theresa; Damiani, Durval; Arnhold, Ivo; Laron, Zvi; Jorge, Alexander (Wiley, 2014)Laron syndrome(LS) is a genetic disorder caused by mutations in the growth hormone receptor (GHR) gene. The most frequent GHR mutation is E180splice (rs121909360), which was initially found in an inbred population of ...
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Espinosa, Claudia; Sjoberg, Marcela; Salazar, Teresa; Rodriguez, Adrian; Cassorla Goluboff, Fernando; Mericq, Verónica; Carvallo, Pilar (Freund Publishing House Ltd, 2008)Mutations in the GH receptor gene have been identified as the cause of growth hormone insensitivity syndrome (GHIS), a rare autosomal recessive disorder. We studied the clinical and biochemical characteristics and the ...
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Sir Petermann, Teresa; Maliqueo Yevilao, Manuel; Codner Dujovne, Ethel; Echiburú López, Bárbara; Crisosto King, Nicolás; Pérez, Virginia; Pérez Bravo, Francisco; Cassorla Goluboff, Fernando (Endocrine Society, 2007)Context: Polycystic ovary syndrome (PCOS) is a familial endocrine-metabolic dysfunction, increasingly recognized in adolescent girls with hyperandrogenism. However, it is difficult to establish whether the metabolic ...
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Sir Petermann, Lidia; Márquez, Lorena; Cárcamo, Michael; Hitchsfeld, Catalina; Codner Dujovne, Ethel; Maliqueo Yevilao, Manuel; Echiburú López, Bárbara; Aranda, Pablo; Crisosto King, Nicolás; Cassorla Goluboff, Fernando (2010-02)Context: We previously demonstrated that low birth weight (BW) infant girls show increased serum anti-Mu¨ llerianhormone(AMH)concentrationsandpoststimulated estradiol levels compared to normal-BW infants, suggesting an ...
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Mericq, Verónica; Cassorla Goluboff, Fernando; Salazar, Teresa; Ávila, Alejandra; Iñíguez Vila, Germán; Bowers, Cyril Y.; Merriam, George R. (1998)Stimulation of pituitary GH secretion with administered GHRH can be effective therapy for those GH deficient (GHD) patients whose disorder results from insufficient endogenous GHRH secretion. We have previously shown that ...
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Cassorla Goluboff, Fernando; Mericq, Verónica; Eggers, Martha; Avila, Alejandra; García, Cristian; Fuentes, Ariel; Rose, Susan R.; Cutler, Gordon B. (Endocrine Society, 1997)To study the effect of delaying epiphyseal fusion on the growth of GH- deficient children, we studied 14 pubertal, treatment naive. GH-deficient patients (6 girls and 8 boys) in a prospective, randomized, placebo- controlled ...
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Mericq, Verónica; Gajardo, Héctor; Eggers, Martha; Avila, Alejandra; Cassorla Goluboff, Fernando (Endocrine Society, 2002)The aim of the present study was to assess the impact of treatment with GH with or without LHRH analog (LHRH-A) on bone mineralization of GH-deficient adolescents. We studied 17 pubertal, treatment-naive, GH-deficient ...
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Merino Osorio, Paulina; Martínez, Daniela; Iñíguez Vila, Germán; López, Patricia; Cassorla Goluboff, Fernando; Pérez Bravo, Francisco; Codner Dujovne, Ethel (Informa Healthcare, 2015)Introduction: Variations in inflammatory markers have been reported in adult women during the luteal phase, but whether these findings are observed during adolescence is unknown. We postulate that higher ultrasensitive ...
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Ocaranza Osses, Paula; Iñíguez Vila, Germán; Johnson Pena, María Cecilia; Cassorla Goluboff, Fernando (Karger, 2017)
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Rodríguez, Fernando Adrián; Gaete Vásquez, Ximena; Cassorla Goluboff, Fernando (Frontiers Media, 2021)Noonan syndrome is characterized by multiple phenotypic features, including growth retardation, which represents the main cause of consultation to the clinician. Longitudinal growth during childhood and adolescence depends ...
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Ocaranza Osses, Paula; Golekoh, Marjorie C.; Andrew, Shayne F.; Guo, Michael H.; Kaplowitz, Paul; Saal, Howard; Rosenfeld, Ron G.; Dauber, Andrew; Cassorla Goluboff, Fernando; Backeljauw, Philippe F.; Hwa, Vivian (Karger, 2017)Background: The growth-promoting effects of IGF-I is mediated through the IGF-I receptor (IGF1R), a widely expressed cell-surface tyrosine kinase receptor. IGF1R copy number variants (CNV) can cause pre- and postnatal ...
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Iñíguez Vila, Germán; González, C. A.; Argandoña, F.; Kakarieka, E.; Johnson, M. C.; Cassorla Goluboff, Fernando (2010)In humans, a direct relationship between IGF-I cord blood levels and birth weight has been demonstrated. To determine the placental IGF-I, IGF-II and IGF-IR mRNA and protein contents in full-term pregnancies from appropriate ...
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Ocaranza, Paula; Morales, Fernanda; Román, Rossana; Iñíguez Vila, Germán; Cassorla Goluboff, Fernando (2012)Background/aim: Possible etiologies of idiopathic short stature (ISS) include a range of conditions, some of which may be caused by defects in the modulation of the growth hormone (GH)-signaling pathway. The Janus kinase/signal ...
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Rivolta, Carina M.; Olcese, María C.; Belforte, Fiorella S.; Chiesa, Ana; Gruñeiro-Papendieck, Laura; Iorcansky, Sonia; Herzovich, Viviana; Cassorla Goluboff, Fernando; Gauna, Alicia; Gonzalez-Sarmiento, Rogelio; Targovnik, Héctor M. (2009)Thyroid Hormone Receptor β (THRB) defects, typically transmitted as autosomal dominant traits, cause Resistance to Thyroid Hormone (RTH). We analyzed the THRB gene in thirteen South American patients with clinical evidence ...
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García, Hernán; Henriquez, Cecilia; Ugarte, Francisca; Fernandez, Elizabeth; Beas, Francisco; Iñíguez Vila, Germán; Boric Scarpa, María Angélica; Pizarro Aguirre, Fernando; Cassorla Goluboff, Fernando (1996)The hormonal profile in 47 small for gestational age (SGA) term newborns during their first year of life was studied. The newborns had a mean birth weight of 2290 ± 230 g and a length of 45.5 ± 2.0 cm, and they were followed ...
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Iñíguez Vila, Germán; Román, Rossana; Youlton, Ronald; Cassorla Goluboff, Fernando; Mericq, Verónica (2011)Background: Novel molecular insights have suggested that ghrelin may be involved in the pathogenesis of some forms of short stature. Recently, growth hormone secretagogue receptor (GHSR) mutations that segregate with short ...
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Sir Petermann, Teresa; Hitchsfeld, Catalina; Codner Dujovne, Ethel; Maliqueo Yevilao, Manuel; Iñíguez Vila, Germán; Echiburú López, Bárbara; Sánchez, Fernando; Crisosto King, Nicolás; Cassorla Goluboff, Fernando (Freund Publishing House Ltd, 2007)Objective: To evaluate gonadal function and anti-Müllerian hormone (AMH) serum concentrations during the first 3 months of life in low birth weight (low-BW) and normal birth weight (normal-BW) infants. Infants: Twenty ...