Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Gustavo Perez de Nanclares"'
Autor:
Alejandro García-Castaño, Leire Madariaga, Sara Gómez-Conde, Pedro González, Gema Grau, Itxaso Rica, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Aníbal Aguayo, Rosa Martínez, Inés Urrutia, Sonia Gaztambide, Calcium Phosphorus Metabolism Molecular Biology Group, Luis Castaño
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
IntroductionThe disorders in the metabolism of calcium can present with manifestations that strongly suggest their diagnosis; however, most of the time, the symptoms with which they are expressed are nonspecific or present only as a laboratory findin
Externí odkaz:
https://doaj.org/article/51578622940e427eba478d487f7ac7a3
Autor:
Gustavo Perez de Nanclares, Virginia Bellido, Rafael Martínez-Conde, Ihintza Larranaga, Luis Castaño, Maite Guimón, Asier Eguia, Sonia Gaztambide
Publikováno v:
Endocrine pathology. 27(2)
Hyperparathyroidism-jaw tumour syndrome (HPT-JT) is a rare variant of familial hyperparathyroidism, characterized by primary hyperparathyroidism (PHPT) due to one or multiple parathyroid adenomas, and benign tumours of the mandible and maxilla. It ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82d4a2ead42c90664c2888f9f48c5d94
https://pubmed.ncbi.nlm.nih.gov/26995009
https://pubmed.ncbi.nlm.nih.gov/26995009
Autor:
Carmen Orellana, Miguel A. Rubio, Luis Castaño, Guiomar Perez de Nanclares, Federico Vázquez, Juan Francisco Merino-Torres, CARMEN GUILLEN PONCE, SONIA GAZTAMBIDE, Gustavo Perez de Nanclares
Publikováno v:
Clinical Endocrinology. 76:719-724
Summary Context Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder mostly owing to a genetic defect in MEN1 gene. Not all patients with MEN1 phenotype present a defect in this gene. Thus, other genes like CDKN and AIP ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5470b7c030eb2856acc427731de0b3f0
https://doi.org/10.1111/j.1365-2265.2011.04269.x
https://doi.org/10.1111/j.1365-2265.2011.04269.x
Autor:
Luis Castaño, Guiomar Perez de Nanclares, Edelmiro Menéndez Torre, JAVIER ADOLFO DE LAS HERAS MONTERO, Federico Vázquez, Rosa Martínez, Ignacio Diez Lopez, SONIA GAZTAMBIDE, Gustavo Perez de Nanclares
Publikováno v:
Diabetic medicine : a journal of the British Diabetic Association. 26(7)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a1422d288085036ccb549afcf38459b
https://pubmed.ncbi.nlm.nih.gov/19573128
https://pubmed.ncbi.nlm.nih.gov/19573128
Autor:
Alejandro García-Castaño, Leire Madariaga, Sara Gómez-Conde, Carmen Lourdes Rey Cordo, María López-Iglesias, Yolanda Garcia-Fernández, Alicia Martín, Pedro González, Ignacio Goicolea, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Aníbal Aguayo, Idoia Martínez de LaPiscina, Rosa Martínez, Laura Saso, Inés Urrutia, Olaia Velasco, Luis Castaño, Sonia Gaztambide
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Abstract The GCM2 gene encodes a transcription factor predominantly expressed in parathyroid cells that is known to be critical for development, proliferation and maintenance of the parathyroid cells. A cohort of 127 Spanish patients with a disorder
Externí odkaz:
https://doaj.org/article/21ec769fee1348db929c1757673e7caa
Autor:
André, Mégarbané, Simon, Rassi, Eliane, Chouery, Valérie, Delague, Gustavo, Perez de Nanclares Leal, Murielle, Tabet, Luis, Castaño, Jacques, Loiselet
Publikováno v:
American journal of medical genetics. Part A. (2)
Two sibs from one Lebanese family presented with congenital hearing loss, meatal atresia, preauricular tags and pits, branchial cysts or fistulae, strabismus, difficulty in opening the mouth wide enough, abnormal fifth fingers, somewhat short stature
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ea2c609d5c70d97baefcbbd31e82c3ca
https://pubmed.ncbi.nlm.nih.gov/12833414
https://pubmed.ncbi.nlm.nih.gov/12833414
Autor:
Alejandro García-Castaño, Leire Madariaga, Montserrat Antón-Gamero, Natalia Mejia, Jenny Ponce, Sara Gómez-Conde, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Rosa Martínez, Laura Saso, Idoia Martínez de LaPiscina, Inés Urrutia, Olaia Velasco, Aníbal Aguayo, Luis Castaño, Sonia Gaztambide
Publikováno v:
PLoS ONE, Vol 15, Iss 9, p e0239965 (2020)
The maintenance of magnesium (Mg2+) homeostasis is essential for human life. The Cystathionine-β-synthase (CBS)-pair domain divalent metal cation transport mediators (CNNMs) have been described to be involved in maintaining Mg2+ homeostasis. Among t
Externí odkaz:
https://doaj.org/article/b8b1aa634ed94a4ca2afd90db1a7a014
Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia
Autor:
Alejandro García-Castaño, Leire Madariaga, Sharona Azriel, Gustavo Pérez de Nanclares, Idoia Martínez de LaPiscina, Rosa Martínez, Inés Urrutia, Aníbal Aguayo, Sonia Gaztambide, Luis Castaño
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2018)
Familial hypocalciuric hypercalcemia type I is an autosomal dominant disorder caused by heterozygous loss-of-function mutations in the CASR gene and is characterized by moderately elevated serum calcium concentrations, low urinary calcium excretion a
Externí odkaz:
https://doaj.org/article/bdc46244501e4e9bb1bdb94e26bcc9a3
Autor:
Mégarbané, André, Rassi, Simon, Chouery, Eliane, Delague, Valérie, Leal, Gustavo Perez de Nanclares, Tabet, Murielle, Castaño, Luis, Loiselet, Jacques
Publikováno v:
American Journal of Medical Genetics. Part A; 15 July 2003, Vol. 120 Issue: 2 p276-282, 7p
Autor:
Alejandro García Castaño, Gustavo Pérez de Nanclares, Leire Madariaga, Mireia Aguirre, Álvaro Madrid, Sara Chocrón, Inmaculada Nadal, Mercedes Navarro, Elena Lucas, Julia Fijo, Mar Espino, Zilac Espitaletta, Víctor García Nieto, David Barajas de Frutos, Reyner Loza, Guillem Pintos, Luis Castaño, RenalTube Group, Gema Ariceta
Publikováno v:
PLoS ONE, Vol 12, Iss 3, p e0173581 (2017)
Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic c
Externí odkaz:
https://doaj.org/article/dc0787dd88464a0599e86f65e6e64df2