Keratoconus associated with Williams-Beuren syndrome: a new case report

by Soraya Mediero, Oriana D'Anna Mardero, Ana Boto de los Bueis, Susana Noval Martín, Sixto García-Miñaur
Published 2017-04-01

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

by María López, Alberto García-Oguiza, Judith Armstrong, Inmaculada García-Cobaleda, Sixto García-Miñaur, Fernando Santos-Simarro, Verónica Seidel, Elena Domínguez-Garrido
Published 2018-03-01

Expanding the Phenotypic Spectrum of <i>PAX6</i> Mutations: From Congenital Cataracts to Nystagmus

by Maria Nieves-Moreno, Susana Noval, Jesus Peralta, María Palomares-Bralo, Angela del Pozo, Sixto Garcia-Miñaur, Fernando Santos-Simarro, Elena Vallespin
Published 2021-05-01

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

by Carlos Sánchez-Montenegro, Alejandra Vilanova-Sánchez, Saturnino Barrena-Delfa, Jair Tenorio, Fernando Santos-Simarro, Sixto García-Miñaur, Pablo Lapunzina, Leopoldo Martínez-Martínez
Published 2017-01-01

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

by Virginia Pérez‐Grijalba, Alberto García‐Oguiza, María López, Judith Armstrong, Sixto García‐Miñaur, Jose María Mesa‐Latorre, Mar O'Callaghan, Mercé Pineda Marfa, Maria Antonia Ramos‐Arroyo, Fernando Santos‐Simarro, Verónica Seidel, Elena Domínguez‐Garrido
Published 2019-11-01

New microdeletion and microduplication syndromes: a comprehensive review

by Julián Nevado, Rafaella Mergener, María Palomares-Bralo, Karen Regina Souza, Elena Vallespín, Rocío Mena, Víctor Martínez-Glez, María Ángeles Mori, Fernando Santos, Sixto García-Miñaur, Fé García-Santiago, Elena Mansilla, Luis Fernández, María Luisa de Torres, Mariluce Riegel, Pablo Lapunzina
Published 2014-01-01

Schuurs–Hoeijmakers Syndrome (<em>PACS1</em> Neurodevelopmental Disorder): Seven Novel Patients and a Review

by Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, Víctor Martinez-Glez, Fernando Santos-Simarro, Sixto García-Miñaúr, María Palomares-Bralo, Marta Pacio-Míguez, Beatriz Gómez, Pedro Arias, Alba Alcochea, Juan Carrión, Patricia Arias, Berta Almoguera, Fermina López-Grondona, Isabel Lorda-Sanchez, Enrique Galán-Gómez, Irene Valenzuela, María Pilar Méndez Perez, Ivón Cuscó, Francisco Barros, Juan Pié, Sergio Ramos, Feliciano J. Ramos, Alma Kuechler, Eduardo Tizzano, Carmen Ayuso, Frank J. Kaiser, Luis A. Pérez-Jurado, Ángel Carracedo, The ENoD-CIBERER Consortium, The SIDE Consortium, Pablo Lapunzina
Published 2021-05-01