Výsledky vyhledávání - "Lidia Castro-Feijoo"

Changes in Body Mass Index in Girls with Idiopathic Central Precocious Puberty under Gonadotropin-Releasing Hormone Analogue Therapy: The Spanish Registry

Autor: Raquel Corripio, Leandro Soriano-Guillén, Ramón Cañete, Aranzazu Escribano, Francisco-Javier Herrero, Lidia Castro-Feijoo, Rafael Espino, Jesús Argente, Jose-Ignacio Labarta

Publikováno v: Hormone Research in Paediatrics. 86:154-160

Background: The influence of gonadotropin-releasing hormone analogue (GnRHa) treatment on body mass index (BMI) evolution in girls with idiopathic central precocious puberty (CPP) is unclear. Hence, we aimed to evaluate the effect of GnRHa treatment

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b7c9835a60810cae6a988e2dcba099e
https://doi.org/10.1159/000448552

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Congenital Hyperinsulinism in Two Siblings with ABCC8 Mutation: Same Genotype, Different Phenotypes

Autor: Teresa Rego, Ana Fernández-Marmiesse, Helder Simoes, Rebeca Saborido Fiaño, Francisco Sousa-Santos, Angel Carracedo, Jesus Barreiro Conde, Lidia Castro-Feijoo, Paloma Cabanas Rodriguez

Publikováno v: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
instname
Archives of Endocrinology and Metabolism, Vol 62, Iss 5, Pp 560-565

Congenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory defects, being ABCC8/KCNJ11 the most commonly affected genes. Therapeutic options include diazoxide, somatostatin analogues and surgery, which is curati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38e868f4a9b774806243ac99f9907a10

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Severe neurological abnormalities in a young boy with impaired thyroid hormone sensitivity due to a novel mutation in the MCT8 gene

Autor: Francisco Sousa Santos, Lidia Castro-Feijoo, Teresa Rego, Francisco Barros Angueira, Paloma Cabanas Rodriguez, Manuel Castro-Gago, Carmen Gomez Lado, Jesus Barreiro Conde

Publikováno v: HORMONES. 16

Monocarboxylate transporter 8 (MCT8) is an active and specific thyroid hormone transporter into neurons. MCT8 mutations cause an X-linked condition known as Allan-Herndon-Dudley syndrome and are characterized by impaired psychomotor development and t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8349301dd3e6deb1697693eeecaaa006
https://doi.org/10.14310/horm.2002.1733

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Functional Consequences of Seven Novel Mutations in theCYP11B1Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency

Autor: Gill Rumsby, Lourdes Loidi, Jeremy Kirk, Emma L. Williams, Manuel Pombo, Ian T. Rose, Wiebke Arlt, Gerard S. Conway, Nils Krone, David Araújo-Vilar, Vivek Dhir, Silvia Parajes, Trevor Cole, Marcus Quinkler, Elke Kaminsky, Rainer Hampel, Nicole Reisch, Fernando Domínguez, Lidia Castro-Feijoo

Publikováno v: The Journal of Clinical Endocrinology & Metabolism; Vol 95

Context Steroid 11beta-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia (CAH). Cases of nonclassic 11OHD are rare compared with the incidence of nonclassic 21-hydroxylase deficiency. Objective

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a3fc19f303fb4d6d443caa9142065d0
https://doi.org/10.1210/jc.2009-0651

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Precocious presentation of autoimmune polyglandular syndrome type 2 associated with an AIRE mutation

Autor: Gemma Novoa Gόmez, Jesus Barreiro Conde, Rebeca Saborido Fiaño, Paloma Cabanas Rodrίguez, Lourdes Loidi, Eduarda Resende, Lidia Castro-Feijoo, Marta Nascimento

Publikováno v: HORMONES.

Autoimmune polyglandular syndrome type 2 (type 2 APS), or Schmidt's syndrome, is defined by the presence of Addison's disease in combination with type 1 diabetes and/or autoimmune thyroid disease. The estimated prevalence of this syndrome is 1.4-4.5

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87f8013aa1d795ead5db3e0a12dddb42
https://doi.org/10.14310/horm.2002.1513

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Congenital hypothyroidism with neurological and respiratory alterations: a case detected using a variable diagnostic threshold for TSH

Autor: Cristóbal Colón, Manuel Pombo, Carmen Gómez-Lado, Lidia Castro-Feijoo, M Luz Couce, Claudia Heredia, Paloma Cabanas, Jesus Barreiro, José Ramón Alonso-Fernández, Luis Castaño

Publikováno v: Journal of Clinical Research in Pediatric Endocrinology
Scopus-Elsevier

We report a case of congenital hypothyroidism (CH) with neurological and respiratory alterations due to a heterozygotic c.374-1G > A mutation of TITF1/NKX2-1. The hypothyroidism was detected using a neonatal screening protocol in which the thyroid st

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cafd55f6c1d0d1b7816cd7bb5554e14b
https://pubmed.ncbi.nlm.nih.gov/22155464

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Evolutionary analyses of entire genomes do not support the association of mtdna mutations with ras/mapk pathway syndromes

Autor: Itxaso Rica, Jesus Barreiro, Francisco Barros, Claudia Heredia, Isabel Martínez-Soto, Angel Carracedo, Joaquín Fernández-Toral, Manuel Castro-Gago, Paloma Cabanas, Jesús Eirís, Antonio Salas, Alberto Gómez-Carballa, Manuel Pombo, Lidia Castro-Feijoo, María Cerezo, Emilia Balboa

Publikováno v: RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
WOS
RUO. Repositorio Institucional de la Universidad de Oviedo
instname
PLoS ONE, Vol 6, Iss 4, p e18348 (2011)
PLoS ONE
Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela

Background There are several known autosomal genes responsible for Ras/MAPK pathway syndromes, including Noonan syndrome (NS) and related disorders (such as LEOPARD, neurofibromatosis type 1), although mutations of these genes do not explain all case

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fbb66e489d58f5eb3e984a4950ffe07
http://hdl.handle.net/20.500.11940/5765

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