Search Results - "de LaPiscina, Idoia Martínez"

Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes? by Urrutia, Inés, Martínez, Rosa, Rica, Itxaso, Martínez de LaPiscina, Idoia, García-Castaño, Alejandro, Aguayo, Anibal, Calvo, Begoña, Castaño, Luis

“…Monogenic diabetes can be misdiagnosed as type 1 or type 2 diabetes in children. The right diagnosis is crucial for both therapeutic choice and prognosis and…”
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Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1 by Martínez de LaPiscina, Idoia, Mahmoud, Rana Aa, Sauter, Kay-Sara, Esteva, Isabel, Alonso, Milagros, Costa, Ines, Rial-Rodriguez, Jose Manuel, Rodríguez-Estévez, Amaia, Vela, Amaia, Castano, Luis, Flück, Christa E

“…Variants of are often found in individuals with 46,XY disorders of sex development (DSD) and manifest with a very broad spectrum of clinical characteristics…”
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Five patients with disorders of calcium metabolism presented with GCM2 gene variants by García-Castaño, Alejandro, Madariaga, Leire, Gómez-Conde, Sara, Cordo, Carmen Lourdes Rey, López-Iglesias, María, Garcia-Fernández, Yolanda, Martín, Alicia, González, Pedro, Goicolea, Ignacio, de Nanclares, Gustavo Pérez, De la Hoz, Ana Belén, Aguayo, Aníbal, de LaPiscina, Idoia Martínez, Martínez, Rosa, Saso, Laura, Urrutia, Inés, Velasco, Olaia, Castaño, Luis, Gaztambide, Sonia

“…The GCM2 gene encodes a transcription factor predominantly expressed in parathyroid cells that is known to be critical for development, proliferation and…”
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An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis by Velayos, Teresa, Martínez, Rosa, Alonso, Milagros, Garcia-Etxebarria, Koldo, Aguayo, Anibal, Camarero, Cristina, Urrutia, Inés, Martínez de LaPiscina, Idoia, Barrio, Raquel, Santin, Izortze, Castaño, Luis

“…Neonatal diabetes mellitus (NDM) is a rare form of diabetes diagnosed within the first 6 months of life. Genetic studies have allowed the identification of…”
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A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson-Mendenhall Syndrome in a Paraguayan Patient by Rojas Velazquez, Maria Natalia, Blanco, Fabiola, Ayala-Lugo, Ana, Franco, Lady, Jolly, Valerie, Di Tore, Denisse, Martínez de Lapiscina, Idoia, Janner, Marco, Flück, Christa E, Pandey, Amit V

“…Rabson-Mendenhall syndrome (RMS) is a rare autosomal recessive disorder characterized by severe insulin resistance, resulting in early-onset diabetes mellitus…”
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Novel variant in the CNNM2 gene associated with dominant hypomagnesemia by García-Castaño, Alejandro, Madariaga, Leire, Antón-Gamero, Montserrat, Mejia, Natalia, Ponce, Jenny, Gómez-Conde, Sara, Pérez de Nanclares, Gustavo, De la Hoz, Ana Belén, Martínez, Rosa, Saso, Laura, Martínez de LaPiscina, Idoia, Urrutia, Inés, Velasco, Olaia, Aguayo, Aníbal, Castaño, Luis, Gaztambide, Sonia

“…The maintenance of magnesium (Mg2+) homeostasis is essential for human life. The Cystathionine-β-synthase (CBS)-pair domain divalent metal cation transport…”
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Incidence of diabetes mellitus and associated risk factors in the adult population of the Basque country, Spain by Urrutia, Inés, Martín-Nieto, Alicia, Martínez, Rosa, Casanovas-Marsal, J Oriol, Aguayo, Anibal, del Olmo, Juan, Arana, Eunate, Fernandez-Rubio, Elsa, Castaño, Luis, Gaztambide, Sonia

“…The aim of this study was to estimate the incidence of diabetes mellitus in the Basque Country and the risk factors involved in the disease by reassessing an…”
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Lower Frequency of HLA-DRB1 Type 1 Diabetes Risk Alleles in Pediatric Patients with MODY by Urrutia, Inés, Martínez, Rosa, López-Euba, Tamara, Velayos, Teresa, Martínez de LaPiscina, Idoia, Bilbao, José Ramón, Rica, Itxaso, Castaño, Luis

“…The aim of this study was to determine the frequency of susceptible HLA-DRB1 alleles for type 1 diabetes in a cohort of pediatric patients with a confirmed…”
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Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role? by Martínez de LaPiscina, Idoia, Hernández-Ramírez, Laura C., Portillo, Nancy, Gómez-Gila, Ana L., Urrutia, Inés, Martínez-Salazar, Rosa, García-Castaño, Alejandro, Aguayo, Aníbal, Rica, Itxaso, Gaztambide, Sonia, Faucz, Fabio R., Keil, Margaret F., Lodish, Maya B., Quezado, Martha, Pankratz, Nathan, Chittiboina, Prashant, Lane, John, Kay, Denise M., Mills, James L., Castaño, Luis, Stratakis, Constantine A.

“…Context: The DICER1 syndrome is a multiple neoplasia disorder caused by germline mutations in the DICER1 gene. In DICER1 patients, aggressive congenital…”
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Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus by García-Castaño, Alejandro, Madariaga, Leire, Pérez de Nanclares, Gustavo, Vela, Amaia, Rica, Itxaso, Gaztambide, Sonia, Martínez, Rosa, Martinez de LaPiscina, Idoia, Urrutia, Inés, Aguayo, Anibal, Velasco, Olaia, Castaño, Luis

“…Familial neurohypophyseal diabetes insipidus is a rare disease produced by a deficiency in the secretion of antidiuretic hormone and is caused by mutations in…”
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Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and Paraganglioma by Martínez de Lapiscina, Idoia, Diego, Estrella, Baquero, Candela, Fernández, Elsa, Menendez, Edelmiro, Moure, Maria Dolores, Ruiz de Azua, Teresa, Castaño, Luis, Valdés, Nuria

“…Pheochromocytomas (PCCs) and paragangliomas (PGLs), denoted PPGLs, are rare neuroendocrine tumours and are highly heterogeneous. The phenotype–genotype…”
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NR5A1 /SF-1 Collaborates with Inhibin α and the Androgen Receptor by Naamneh Elzenaty, Rawda, Kouri, Chrysanthi, Martinez de Lapiscina, Idoia, Sauter, Kay-Sara, Moreno, Francisca, Camats-Tarruella, Núria, Flück, Christa E

“…Steroidogenic factor 1 (SF-1) is a nuclear receptor that regulates steroidogenesis and reproductive development. /SF-1 variants are associated with a broad…”
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Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas by Martínez de LaPiscina, Idoia, Portillo Najera, Nancy, Rica, Itxaso, Gaztambide, Sonia, Webb, Susan M, Santos, Alicia, Moure, Maria Dolores, Paja Fano, Miguel, Hernandez, Maria Isabel, Chueca-Guindelain, Maria Jesús, Hernández-Ramírez, Laura Cristina, Soto, Alfonso, Valdés, Nuria, Castaño, Luis

“…Objective Pituitary adenomas (PA) are rare in young patients, and additional studies are needed to fully understand their pathogenesis in this population. We…”
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Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations by Martinez de Lapiscina, Idoia, Kouri, Chrysanthi, Aurrekoetxea, Josu, Sanchez, Mirian, Naamneh Elzenaty, Rawda, Sauter, Kay-Sara, Camats, Núria, Grau, Gema, Rica, Itxaso, Rodriguez, Amaia, Vela, Amaia, Cortazar, Alicia, Alonso-Cerezo, Maria Concepción, Bahillo, Pilar, Bertholt, Laura, Esteva, Isabel, Castaño, Luis, Flück, Christa E

“…NR5A1/SF-1 (Steroidogenic factor-1) variants may cause mild to severe differences of sex development (DSD) or may be found in healthy carriers. The NR5A1/SF-1…”
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Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia by García-Castaño, Alejandro, Madariaga, Leire, Azriel, Sharona, Pérez de Nanclares, Gustavo, Martínez de LaPiscina, Idoia, Martínez, Rosa, Urrutia, Inés, Aguayo, Aníbal, Gaztambide, Sonia, Castaño, Luis

“…Summary Familial hypocalciuric hypercalcemia type I is an autosomal dominant disorder caused by heterozygous loss-of-function mutations in the CASR gene and is…”
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Risk for progression to type 1 diabetes in first-degree relatives under 50 years of age by Urrutia, Ines, Martinez, Rosa, Calvo, Begona, Marcelo, Irene, Saso-Jimenez, Laura, Martinez de Lapiscina, Idoia, Bilbao, Jose Ramon, Castano, Luis, Rica, Itxaso

“…The detection of pancreatic autoantibodies in first-degree relatives of patients with type 1 diabetes (T1D) is considered a risk factor for disease. Novel…”
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GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes by Martinez de LaPiscina, Idoia, de Mingo, Carmen, Riedl, Stefan, Rodriguez, Amaia, Pandey, Amit V, Fernández-Cancio, Mónica, Camats, Nuria, Sinclair, Andrew, Castaño, Luis, Audi, Laura, Flück, Christa E

“…Disorders of sex development (DSD) consist of a wide range of conditions involving numerous genes. Nevertheless, about half of 46,XY individuals remain…”
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Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study by Naamneh Elzenaty, Rawda, Martinez de Lapiscina, Idoia, Kouri, Chrysanthi, Sauter, Kay-Sara, Sommer, Grit, Castaño, Luis, Flück, Christa E

“…Steroidogenic factor 1 (NR5A1/SF-1) is a nuclear receptor that regulates sex development, steroidogenesis and reproduction. Genetic variants in NR5A1/SF-1 are…”
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Genetics of human sexual development and related disorders by Martinez de LaPiscina, Idoia, Flück, Christa E.

“…The aim of this study was to provide a basic overview on human sex development with a focus on involved genes and pathways, and also to discuss recent advances…”
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Response to Letter to the Editor: "Forty-One Individuals with Mutations in the AVP-NPII Gene Associated with Familial Neurohypophyseal Diabetes Insipidus by García-Castaño, Alejandro, Madariaga, Leire, Pérez de Nanclares, Gustavo, Vela, Amaia, Rica, Itxaso, Gaztambide, Sonia, Martínez, Rosa, Martinez de LaPiscina, Idoia, Urrutia, Inés, Aguayo, Anibal, Velasco, Olaia, Castaño, Luis

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