Publications by authors named "Manuel Pombo"

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A 47-Year Comparison of Lower Body Muscular Power in Spanish Boys: A Short Report.
Iván Chulvi-Medrano, Manuel Pombo, Miguel Ángel Saavedra-García, Tamara Rial Rebullido, Avery D Faigenbaum

J Funct Morphol Kinesiol· August 2020

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[Ten years experience with the first approved biosimilar recombinant human growth hormone drug in normal clinical practice].
Juan Pedro López-Siguero, Margarida Palla García, Elena Martínez Busto, Francisco José Rebollo, Manuel Pombo

An Pediatr (Engl Ed)· April 2018

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Congenital hypothyroidism with neurological and respiratory alterations: a case detected using a variable diagnostic threshold for TSH.
Jesús Barreiro, Jóse Ramón Alonso-Fernández, Lidia Castro-Feijoo, Cristóbal Colón, Paloma Cabanas, Manuel Pombo

J Clin Res Pediatr Endocrinol· April 2012

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Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.
Marcos Morey, Lidia Castro-Feijóo, Jesús Barreiro, Paloma Cabanas, Manuel Pombo

BMC Med Genet· September 2011

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Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes.
Alberto Gómez-Carballa, María Cerezo, Emilia Balboa, Claudia Heredia, Lidia Castro-Feijóo, Manuel Pombo

PLoS One· April 2011

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Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
Silvia Parajes, Lourdes Loidi, Nicole Reisch, Vivek Dhir, Ian T Rose, Manuel Pombo

J Clin Endocrinol Metab· February 2010

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Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?
Lidia Castro-Feijóo, Lourdes Loidi, Anxo Vidal, Silvia Parajes, Elena Rosón, Manuel Pombo

Eur J Endocrinol· September 2008

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Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy.
Guiomar Pérez de Nanclares, Eduardo Fernández-Rebollo, Izortze Santin, Beatriz García-Cuartero, Sonia Gaztambide, Manuel Pombo

J Clin Endocrinol Metab· June 2007

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High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect.
Lourdes Loidi, Celsa Quinteiro, Silvia Parajes, Jesús Barreiro, Domingo G Lestón, Manuel Pombo

Clin Endocrinol (Oxf)· March 2006

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Kallmann's syndrome with a novel missense mutation in the KAL1 gene that modifies the major cell adhesion site of the anosmin-1 protein.
Lourdes Loidi, Lidia Castro-Feijóo, Jesús Barreiro, Celsa Quinteiro, Paloma Cabanas, Manuel Pombo

J Pediatr Endocrinol Metab· June 2005

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Regulation of ghrelin secretion and action.
Jesus P Camiña, Marcos C Carreira, Dragan Micic, Manuel Pombo, Fahrettin Kelestimur

Endocrine· October 2003

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Novel mutation involving the translation initiation codon of the growth hormone receptor gene (GHR) in a patient with Laron syndrome.
Celsa Quinteiro, Lidia Castro-Feijoo, Lourdes Loidi, Jesus Barreiro, Maria de la Fuente, Manuel Pombo

J Pediatr Endocrinol Metab· March 2003

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