Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine

por Antón-Martín, Pilar, López, Cristina Aparicio, Ramiro-León, Soraya, Garzón, Sonia Santillán, Santos-Simarro, Fernando, Gil-Fournier, Belén
Publicado 2012

Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report

por Peces, Ramón, Mena, Rocío, Peces, Carlos, Santos‐Simarro, Fernando, Fernández, Luis, Afonso, Sara, Lapunzina, Pablo, Selgas, Rafael, Nevado, Julián
Publicado 2019

NOTCH1 Gene as a Novel Cause of Thoracic Aortic Aneurysm in Patients with Tricuspid Aortic Valve: Two Cases Reported

por Torres-Juan, Laura, Rico, Yolanda, Fortuny, Elena, Pons, Jaume, Ramos, Rafael, Santos-Simarro, Fernando, Asensio, Víctor, Martinez, Iciar, Heine-Suñer, Damian
Publicado 2023

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

por López, María, García-Oguiza, Alberto, Armstrong, Judith, García-Cobaleda, Inmaculada, García-Miñaur, Sixto, Santos-Simarro, Fernando, Seidel, Verónica, Domínguez-Garrido, Elena
Publicado 2018

Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus

por Nieves-Moreno, Maria, Noval, Susana, Peralta, Jesus, Palomares-Bralo, María, del Pozo, Angela, Garcia-Miñaur, Sixto, Santos-Simarro, Fernando, Vallespin, Elena
Publicado 2021

Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature

por Sánchez-Montenegro, Carlos, Vilanova-Sánchez, Alejandra, Barrena-Delfa, Saturnino, Tenorio, Jair, Santos-Simarro, Fernando, García-Miñaur, Sixto, Lapunzina, Pablo, Martínez-Martínez, Leopoldo
Publicado 2017

Further delineation of putative ACTB loss‐of‐function variants: A 4‐patient series

por Baumann, Matthias, Beaver, Erin M., Palomares‐Bralo, María, Santos‐Simarro, Fernando, Holzer, Peter, Povysil, Gundula, Müller, Thomas, Valovka, Taras, Janecke, Andreas R.
Publicado 2020

Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families

por Fernández-Alcalde, Celia, Nieves-Moreno, María, Noval, Susana, Peralta, Jesús M., Montaño, Victoria E. F., del Pozo, Ángela, Santos-Simarro, Fernando, Vallespín, Elena
Publicado 2021

NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital

por Sandoval-Talamantes, Ana Karen, Tenorio-Castaño, Jair Antonio, Santos-Simarro, Fernando, Adán, Carmen, Fernández-Elvira, María, García-Fernández, Laura, Muñoz, Yolanda, Lapunzina, Pablo, Nevado, Julián
Publicado 2023

A new variant in PHKA2 is associated with glycogen storage disease type IXa

por Rodríguez-Jiménez, Carmen, Santos-Simarro, Fernando, Campos-Barros, Ángel, Camarena, Carmen, Lledín, Dolores, Vallespín, Elena, del Pozo, Ángela, Mena, Rocío, Lapunzina, Pablo, Rodríguez-Nóvoa, Sonia
Publicado 2017

Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome

por Diaz-Gonzalez, Francisca, Sacedo-Gutiérrez, Javier M., Twigg, Stephen R. F., Calpena, Eduardo, Carceller-Benito, Fernando E., Parrón-Pajares, Manuel, Santos-Simarro, Fernando, Heath, Karen E.
Publicado 2023

Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier

por Delicado, Alicia, Fernández, Luis, de Torres, María Luisa, Nevado, Julián, García-Santiago, Fe Amalia, Rodríguez, Roberto, Mansilla, Elena, Palomares, María, Santos-Simarro, Fernando, Vallespín, Elena, Mori, María Ángeles, Lapunzina, Pablo
Publicado 2014

Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital

por Sandoval-Talamantes, Ana Karen, Mori, María Ángeles, Santos-Simarro, Fernando, García-Miñaur, Sixto, Mansilla, Elena, Tenorio, Jair Antonio, Peña, Carolina, Adan, Carmen, Fernández-Elvira, María, Rueda, Inmaculada, Lapunzina, Pablo, Nevado, Julián
Publicado 2023

OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population

por Arruti, Natalia, Rodríguez-Solana, Patricia, Nieves-Moreno, María, Guerrero-Carretero, Marta, del Pozo, Ángela, Montaño, Victoria E. F., Santos-Simarro, Fernando, Rikeros-Orozco, Emi, Delgado-Mora, Luna, Vallespín, Elena, Noval, Susana
Publicado 2023

Prenatal ultrasound findings in Koolen‐de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome

por García‐Santiago, Fe Amalia, Martínez‐Payo, Cristina, Mansilla, Elena, Santos‐Simarro, Fernando, Ruiz de Azua Ballesteros, Miguel, Mori, María Ángeles, Antolín Alvarado, Eugenia, Nieto, Yolanda, Vallcorba, Isabel, Tenorio, Jair, Nevado, Julián, Lapunzina, Pablo
Publicado 2021

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients

por Pérez‐Grijalba, Virginia, García‐Oguiza, Alberto, López, María, Armstrong, Judith, García‐Miñaur, Sixto, Mesa‐Latorre, Jose María, O'Callaghan, Mar, Pineda Marfa, Mercé, Ramos‐Arroyo, Maria Antonia, Santos‐Simarro, Fernando, Seidel, Verónica, Domínguez‐Garrido, Elena
Publicado 2019

Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment

por 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
Publicado 2023

Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study

por González-Iglesias, Eva, López-Vázquez, Ana, Noval, Susana, Nieves-Moreno, María, Granados-Fernández, María, Arruti, Natalia, Rosa-Pérez, Irene, Pacio-Míguez, Marta, Montaño, Victoria E. F., Rodríguez-Solana, Patricia, del Pozo, Angela, Santos-Simarro, Fernando, Vallespín, Elena
Publicado 2022

Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome

por Nevado, Julián, Bel-Fenellós, Cristina, Sandoval-Talamantes, Ana Karen, Hernández, Adolfo, Biencinto-López, Chantal, Martínez-Fernández, María Luisa, Barrúz, Pilar, Santos-Simarro, Fernando, Mori-Álvarez, María Ángeles, Mansilla, Elena, García-Santiago, Fé Amalia, Valcorba, Isabel, Sáenz-Rico, Belén, Martínez-Frías, María Luisa, Lapunzina, Pablo
Publicado 2021

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

por Teresa-Rodrigo, María E., Eckhold, Juliane, Puisac, Beatriz, Dalski, Andreas, Gil-Rodríguez, María C., Braunholz, Diana, Baquero, Carolina, Hernández-Marcos, María, de Karam, Juan C., Ciero, Milagros, Santos-Simarro, Fernando, Lapunzina, Pablo, Wierzba, Jolanta, Casale, César H., Ramos, Feliciano J., Gillessen-Kaesbach, Gabriele, Kaiser, Frank J., Pié, Juan
Publicado 2014