Molecular characterization of the new clinical entity associated with congenital adrenal hyperplasia: the CAH-X syndrome in the Spanish population
Figueras, Laura Martínez, Pacheco, Rafael Muñoz, González, Dolores García, Domènech, María Arriba, Zubicaray, Begoña Ezquieta
Published in Advances in laboratory medicine (01.09.2023)
Published in Advances in laboratory medicine (01.09.2023)
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Journal Article
LEOPARD syndrome and multiple granular cell tumors: An underreported association?
Aragüés, IgnacioHernández, Domínguez, MiniaCampos, Blanco, VerónicaParra, Zubicaray, BegoñaEzquieta, Fernández, RicardoSuárez
Published in Indian journal of dermatology, venereology, and leprology (01.01.2016)
Published in Indian journal of dermatology, venereology, and leprology (01.01.2016)
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Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment
Carcavilla, Atilano, Cambra, Ana, Santomé, José L, Seidel, Verónica, Cruz, Jaime, Alonso, Milagros, Pozo, Jesús, Valenzuela, Irene, Guillén-Navarro, Encarna, Santos-Simarro, Fernando, González-Casado, Isabel, Rodríguez, Amparo, Medrano, Constancio, López-Siguero, Juan Pedro, Ezquieta, Begoña
Published in Journal of clinical medicine (29.07.2023)
Published in Journal of clinical medicine (29.07.2023)
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LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria
Carcavilla, Atilano, Pinto, Isabel, Muñoz-Pacheco, Rafael, Barrio, Raquel, Martin-Frías, Maria, Ezquieta, Begoña
Published in European journal of pediatrics (01.08.2011)
Published in European journal of pediatrics (01.08.2011)
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Journal Article
Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients
Carcavilla, Atilano, García-Miñaúr, Sixto, Pérez-Aytés, Antonio, Vendrell, Teresa, Pinto, Isabel, Guillén-Navarro, Encarna, González-Meneses, Antonio, Aoki, Yoko, Grinberg, Daniel, Ezquieta, Begoña
Published in Medicina clinica (20.01.2015)
Published in Medicina clinica (20.01.2015)
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An XX male with an intratubular undifferentiated germ cell neoplasia
Carcavilla, Atilano, M.D, Alonso, Milagros, M.D., Ph.D, Ezquieta, Begoña, M.D., Ph.D, García-Galloway, Eva, Ph.D, Barrio, Raquel, M.D., Ph.D, Nistal, Manuel, M.D., Ph.D
Published in Fertility and sterility (01.11.2008)
Published in Fertility and sterility (01.11.2008)
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Journal Article
Myeloproliferative disorder in Noonan syndrome
Bastida, Pilar, García-Miñaúr, Sixto, Ezquieta, Begoña, Dapena, José Luis, Sanchez de Toledo, José
Published in Journal of pediatric hematology/oncology (01.01.2011)
Published in Journal of pediatric hematology/oncology (01.01.2011)
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LEOPARD Syndrome: A Variant of Noonan Syndrome Strongly Associated With Hypertrophic Cardiomyopathy
Carcavilla, Atilano, Santomé, José L., Pinto, Isabel, Sánchez-Pozo, Jaime, Guillén-Navarro, Encarna, Martín-Frías, María, Lapunzina, Pablo, Ezquieta, Begoña
Published in Revista española de cardiología (English ed.) (01.05.2013)
Published in Revista española de cardiología (English ed.) (01.05.2013)
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Journal Article
Should 21-hydroxylase deficiency genotyping be considered in assisted reproductive technology programs?
Ezquieta, Begoña, Ph.D, Alonso, Milagros, Ph.D., M.D, Alvarez, Eduardo, Ph.D., M.D, Arnao, Dolores R., Ph.D., M.D, Rodríguez, Amparo, Ph.D., M.D, Siguero, Juan P.L., Ph.D., M.D
Published in Fertility and sterility (01.11.2007)
Published in Fertility and sterility (01.11.2007)
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Journal Article
Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia
BARCA-TIERNO, Veronica, AZA-CARMONA, Miriam, SANTOS, Fernando, IGNACIO RODRIGUEZ, Jose, POZO, Jesus, ARGENTE, Jesus, KALAYDJIEVA, Luba, GRACIA, Ricardo, CAMPOS-BARROS, Angel, BENITO-SANZ, Sara, HEATH, Karen E, BARROSO, Eva, HEINE-SUNER, Damia, AZMANOV, Dimitar, ROSELL, Jordi, EZQUIETA, Begona, SENTCHORDI MONTANE, Lucia, VENDRELL, Teresa, CRUZ, Jaime
Published in European journal of human genetics : EJHG (01.12.2011)
Published in European journal of human genetics : EJHG (01.12.2011)
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Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease
Ezquieta, Begoña, Santomé, Luis, Barrio, Raquel, Barrionuevo, Jose L., López-Siguero, Juan P., Oliver, Antonio, Ramírez, Joaquín, Rodríguez, Ildefonso, Muñoz-Pacheco, Rafael
Published in Prenatal diagnosis (01.08.2010)
Published in Prenatal diagnosis (01.08.2010)
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Neonatal screening for congenital adrenal hyperplasia: transitory elevation of 17-hydroxyprogesterone
Fernández, Belén Huidobro, Fernández, Maite Echeverría, Íñiguez, Elena Dulín, Zubicaray, Begoña Ezquieta, Martín, María Belén Roldán, Arnao, María Dolores Rodríguez, Sánchez, Amparo Rodríguez
Published in Journal of Pediatric Endocrinology and Metabolism (01.04.2011)
Published in Journal of Pediatric Endocrinology and Metabolism (01.04.2011)
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Journal Article
Alterations in RAS-MAPK Genes in 200 Spanish Patients With Noonan and Other Neuro-Cardio-Facio-Cutaneous Syndromes. Genotype and Cardiopathy
Ezquieta, Begoña, Santomé, José L., Carcavilla, Atilano, Guillén-Navarro, Encarna, Pérez-Aytés, Antonio, Sánchez del Pozo, Jaime, García-Miñaur, Sixto, Castillo, Emilia, Alonso, Milagros, Vendrell, Teresa, Santana, Alfredo, Maroto, Enrique, Galbis, Liliana
Published in Revista española de cardiología (English ed.) (01.05.2012)
Published in Revista española de cardiología (English ed.) (01.05.2012)
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Síndrome de Noonan: actualización genética, clínica y de opciones terapéuticas
Carcavilla, Atilano, Suárez-Ortega, Larisa, Rodríguez Sánchez, Amparo, Gonzalez-Casado, Isabel, Ramón-Krauel, Marta, Labarta, Jose Ignacio, Quinteiro Gonzalez, Sofia, Riaño Galán, Isolina, Ezquieta Zubicaray, Begoña, López-Siguero, Juan Pedro
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.07.2020)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.07.2020)
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Journal Article
Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency presenting with erythrocytosis
Ramos, Ignacio, Regadera, Anabel, Román, Pilar, Ezquieta, Begoña
Published in Medicina clínica (08.11.2008)
Published in Medicina clínica (08.11.2008)
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Journal Article
Turner's syndrome with precocious puberty
Jesús Rodríguez-Troyano, M, Martín-Frías, María, Ezquieta, Begoña, Barrio, Raquel
Published in Medicina clínica (20.09.2008)
Published in Medicina clínica (20.09.2008)
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