Browsing by Author "Mericq, Verónica"

Now showing items 1-20 of 39

    • Accelerated early pubertal progression, ovarian morphology, and ovarian function in prospectively followed ... 
      Hernández, María Isabel; Martínez Aguayo, Alejandro; Cavada Chacón, Gabriel; Peña Novoa, Verónica; Trejo, León; Ávila, Alejandra; Salazar Cornejo, Teresa; Asenjo, Sylvia; Iñíguez Vila, Germán; Rey, Rodolfo; Mericq, Verónica (De Gruyter, 2013)
      Aim: To compare pubertal development in age-matched healthy girls born with low birth weight (LBW) or appropriate birth weight for gestational age (AGA). Subjects and methods: Girls with breast in Tanner stage II and ...
    • Adiposidad visceral y su asociación con lípidos séricos e insulinemia en adolescentes obesas 
      Neri, Daniela; Espinoza, Aníbal; Bravo, Aurora; Rebollo, M. Jesús; Moraga, Francisco; Mericq, Verónica; Castillo Durán, Carlos (SOC MEDICA SANTIAGO, 2007-03)
      Increased visceral or abdominal adipose tissue in children and adults is strongly associated with metabolic and a variety of chronic diseases. Aim: To study the association between visceral or external body measurements ...
    • CBG Santiago: A Novel CBG Mutation 
      Torpy, D. J.; Lundgren, B. Ardesjoe; Ho, J. T.; Lewis, J. G.; Scott, H. S.; Mericq, Verónica (ENDOCRINE SOC, 2012-01)
      Context: Corticosteroid-binding globulin (CBG; SERPIN A6) gene mutations are rare; only four mutations have been described, often in association with fatigue and chronic pain, albeit with incomplete penetrance. Patient: ...
    • Comparison of clinical, ultrasonographic, and biochemical differences at the beginning of puberty in healthy ... 
      Hernández Cárdenas, María Isabel; Martínez, A.; Capurro Spadaro, María Teresa; Peña Novoa, Verónica; Trejo, L.; Avila, Alejandra; Salazar, T.; Asenjo, Silvia; Iñíguez Vila, Germán; Mericq, Verónica (ENDOCRINE SOC, 2006-09)
      Context: There are limited and controversial data concerning puberty characteristics in girls born small for gestational age (SGA). Objective: The objective of the study was to document clinical, ultrasonographic, and ...
    • Cortisol hyporesponsiveness to the low dose ACTH test is a frequent finding in a pediatric population with ... 
      Gaete, X.; Iñíguez Vila, Germán; Linares, J.; Avila, A.; Mericq, Verónica (2013)
      Introduction: In adults with type 1 diabetes mellitus (DM1), a 25% of risk of hypocortisolism has been found through a low dose ACTH test with negative antibodies suggesting other causes of hypothalamic–pituitary–adrenal ...
    • A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects 
      Poggi, Helena; Vera, Alejandra; Avalos, Carolina; Lagos, Marcela; Mellado, Cecilia; Aracena, Mariana; Aravena Cerda, Teresa; García, Hernán; Godoy, Claudio; Cattani, Andreína; Reyes, Loreto; Lacourt, Patricia; Rumie, Hana; Mericq, Verónica; Arriaza, Marta; Martinez Aguayo, Alejandro (Karger, 2015)
      Background: Deletions in the SHOX gene are the most frequent genetic cause of Leri-Weill syndrome and Langer mesomelic dysplasia, which are also present in idiopathic short stature. Aim: To describe the molecular and ...
    • E180splice mutation in the growth hormone receptor gene in a Chilean family with growth hormone insensitivity: ... 
      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 ...
    • Erratum: Growth retardation in children with kidney disease (International Journal of Endocrinology) 
      Salas, Paulina; Pinto, Viola; Rodriguez, Josefina; Zambrano, Maria Jose; Mericq, Verónica (Hindawi Publishing Corporation, 2014)
    • Expanding the Phenotype and Genotype of Female GnRH Deficiency 
      Shaw, Natalie D.; Seminara, Stephanie B.; Welt, Corrine K.; Au, Margaret G.; Plummer, Lacey; Hughes, Virginia A.; Dwyer, Andrew A.; Martin, Kathryn A.; Quinton, Richard; Mericq, Verónica; Merino, Paulina M.; Gusella, James F.; Crowley, William F. Jr.; Pitteloud, Nelly; Hall, Janet E. (2011-03)
      Context: GnRH deficiency is a rare genetic disorder of absent or partial pubertal development. The clinical and genetic characteristics of GnRH-deficient women have not been well-described. Objective:Todetermine the ...
    • Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency 
      Balasubramanian, Ravikumar; Choi, Jin Ho; Francescatto, Ludmila; Willer, Jason; Horton, Edward R.; Asimacopoulos, Eleni P.; Stankovic, Konstantina M.; Plummer, Lacey; Buck, Cassandra L.; Quinton, Richard; Nebesio, Todd D.; Mericq, Verónica; Merino, Paulina M.; Meyer, (National Academy of Sciences, 2014)
      © 2014, National Academy of Sciences. All rights reserved. Inactivating mutations in chromodomain helicase DNA binding protein 7 (CHD7) cause CHARGE syndrome, a severe multiorgan system disorder of which Isolated ...
    • Glucose and lipid metabolism in small for gestational age infants at 48 hours of age 
      Bazaes, Rodrigo A.; Salazar, Teresa E.; Pittaluga, Enrica; Peña, Verónica; Alegría, Angélica; Íñiguez, Germán; Ong, Ken K.; Dunger, David B.; Mericq, Verónica (2003)
      Objective. To study the consequences of low birth weight on glucose and lipid metabolism 48 hours after delivery. Methods. We studied 136 small for gestational age (SGA) and 34 appropriate for gestational age (AGA) term ...
    • Growth hormone (GH) responses to GH-releasing peptide and to GH-releasing hormone in GH-deficient children 
      Mericq, Verónica; Cassorla Goluboff, Fernando; Garcia, Hernan; Avila, Alejandra; Bowers, Cyril Y.; Merriam, George R. (1995)
      The GH-releasing peptides (GHRPs) are a family of hexa- and heptapeptides that specifically stimulate GH secretion in normal adults and children. They would be an attractive potential form of therapy for GH deficiency (GHD) ...
    • Growth hormone and treatment outcomes: Expert review of current clinical practice 
      Cassorla Goluboff, Fernando; Cianfarani, Stefano; Haverkamp, Fritz; Labarta, Jose I.; Loche, Sandro; Luo, Xiaoping; Maghnie, Mohamad; Mericq, Verónica; Muzsnai, Agota; Norgren, Svante; Ojaniemi, Marja; Pribilincova, Zuzana; Quinteiro, Sofia; Savendahl, Lars; Spinola E Castro, A (2011)
      Although there are guidelines for treatment of short stature, open questions regarding optimal management of growth hormone therapy still exist. Experts attending six international meetings agree that successful therapy ...
    • Growth Retardation in Children with Kidney Disease 
      Salas del Campo, Paulina; Pinto, Viola; Rodríguez, Josefina; Zambrano, María José; Mericq, Verónica (Hindawi Publishing Corporation, 2013-08-13)
    • Haplotype Analysis of the Promoter Region of Phosphodiesterase Type 8B (PDE8B) in Correlation with Inactivating ... 
      Horvath, Anelia; Faucz, Fabio; Finkielstain, Gabriela P.; Nikita, Maria Eleni; Rothenbuhler, Anya; Almeida, Madson; Mericq, Verónica; Stratakis, Constantine A. (Mary Ann Liebert, Inc., 2010)
      Background: Human phosphodiesterase (PDE) type 8B (PDE8B) is located at 5q14.1 and is known as the PDE with the highest affinity to cAMP. We recently described a family with bilateral micronodular adrenocortical disease ...
    • Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature 
      Wang, Sophie; Jacobsen, Christina; Carmichael, Heather; Edmund, Aaron; Robinson, Jerid; Olney, Robert; Miller, Timothy C.; Moon, Jennifer E.; Mericq, Verónica; Potter, Lincoln R.; Warman, Matthew L.; Hirschhorn, Joel N.; Dauber, Andrew (Wiley, 2015)
      Based on the observation of reduced stature in relatives of patients with acromesomelic dysplasia, Maroteaux type (AMDM), caused by homozygous or compound heterozygous mutations in natriuretic peptide receptor-B gene ...
    • Hipopituitarismo congénito: Experiencia en 23 casos 
      Lammoglia, Juan Javier; Eyzaguirre, Francisca; Unanue Morales, Nancy; Román, Rossana; Codner Dujovne, Ethel; Cassorla Goluboff, Fernando; Mericq, Verónica (SOC MEDICA SANTIAGO, 2008-08)
      Background: Congenital hypopituitarism is an uncommon cause of hypophyseal insufficiency. It is less common than growth hormone deficiency, which has an incidence of 1:4.000 to 1:8.000 live newborns. Early diagnosis of ...
    • Hipotiroidismo congénito. Aspectos clínicos y ultrasonográficos 
      Moënne B., Karla; Ortega F., Ximena; Pérez M., Manuela; Mericq, Verónica (Sociedad Chilena de Pediatría, 2014)
      El hipotiroidismo congénito se define como la condición de déficit de la producción de hormonas tiroideas, que se encuentra presente desde el nacimiento. Corresponde a la causa más común de retardo mental prevenible y ...
    • Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical ... 
      Flanagan, S. E.; Mackay, D. J. G.; Greeley, S. A. W.; McDonald, T. J.; Mericq, Verónica; Hassing, J.; Richmond, E. J.; Martin, W. R.; Acerini, C.; Kaulfers, A. M.; Flynn, D. P.; Popovic, J.; Sperling, M. A.; Hussain, K.; Ellard, S.; Hattersley, A. T. (Springer, 2013)
    • IGF-I sensitivity in small for gestational age children Sensibilidad a IGF-I en niños pequeños para la edad ... 
      Román R., Rossana; Iñíguez Vila, Germán; Salazar C., Teresa; Avila A., Alejandra; Barrera P., Alvaro; Fuentes G., Ariel; Mericq, Verónica; Gunn, Ronald D.; Cassorla Goluboff, Fernando (2006)
      Background: The lack of catch up growth (CUG) in small for gestational age (SGA) children may be related to a reduced sensitivity to insulin growth factor 1 (IGF-I). Aim: To assess the sensitivity to IGF-I in small for ...