Living kidney transplantation between brothers with unrecognized renal amyloidosis as the first manifestation of familial Mediterranean fever: a case report

por Peces, Ramón, Afonso, Sara, Peces, Carlos, Nevado, Julián, Selgas, Rafael
Publicado 2017

Polyphenols Attenuate Highly-Glycosylated Haemoglobin-Induced Damage in Human Peritoneal Mesothelial Cells

por Sánchez-Rodríguez, Carolina, Peiró, Concepción, Rodríguez-Mañas, Leocadio, Nevado, Julián
Publicado 2020

Birth of two healthy girls following preimplantation genetic diagnosis and gestational surrogacy in a rapidly progressive autosomal dominant polycystic kidney disease case using to...

por Peces, Ramón, Mena, Rocío, Peces, Carlos, Cuesta, Emilio, Lapunzina, Pablo, Selgas, Rafael, Nevado, Julián
Publicado 2021

Simpson-Golabi-Behmel syndrome types I and II

por Tenorio, Jair, Arias, Pedro, Martínez-Glez, Víctor, Santos, Fernando, García-Miñaur, Sixto, Nevado, Julián, Lapunzina, Pablo
Publicado 2014

A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1

por Peces, Ramón, Peces, Carlos, Espinosa, Laura, Mena, Rocío, Blanco, Carolina, Tenorio-Castaño, Jair, Lapunzina, Pablo, Nevado, Julián
Publicado 2023

First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities

por Candelo, Estephania, Caicedo, Gabriela, Rosso, Fernando, Ballesteros, Adriana, Orrego, Jaime, Escobar, Luis, Lapunzina, Pablo, Nevado, Julían, Pachajoa, Harry
Publicado 2019

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

Co‐occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2

por Peces, Ramón, Mena, Rocío, Martín, Yolanda, Hernández, Concepción, Peces, Carlos, Tellería, Dolores, Cuesta, Emilio, Selgas, Rafael, Lapunzina, Pablo, Nevado, Julián
Publicado 2020

Historical and geographical distribution of the founder mutation c.610G>A; p.Ala204Thr in the CLCNKB gene linked to Bartter syndrome type III in Spain

por Peces, Ramón, Mena, Rocío, Peces, Carlos, Barruz, Pilar, Trujillo, Hernando, Carreño, Agustín, Espinosa, Laura, Selgas, Rafael, Lapunzina, Pablo, Nevado, Julián
Publicado 2021

Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes

por Peces, Ramón, Peces, Carlos, Mena, Rocío, Cuesta, Emilio, García-Santiago, Fe Amalia, Ossorio, Marta, Afonso, Sara, Lapunzina, Pablo, Nevado, Julián
Publicado 2022

Cognitive–Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype–Phenotype Correlationships

por Bel-Fenellós, Cristina, Biencinto-López, Chantal, Sáenz-Rico, Belén, Hernández, Adolfo, Sandoval-Talamantes, Ana Karen, Tenorio-Castaño, Jair, Lapunzina, Pablo, Nevado, Julián
Publicado 2023

A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation

por Candelo, Estephania, Sanz, Ana Maria, Ramirez-Montaño, Diana, Diaz-Ordoñez, Lorena, Granados, Ana Maria, Rosso, Fernando, Nevado, Julian, Lapunzina, Pablo, Pachajoa, Harry
Publicado 2021

Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases

por Bueno, Anibal, Rodríguez-López, Rocío, Reyes-Palomares, Armando, Rojano, Elena, Corpas, Manuel, Nevado, Julián, Lapunzina, Pablo, Sánchez-Jiménez, Francisca, Ranea, Juan A. G.
Publicado 2018

Expanding the Evidence of a Semi-Dominant Inheritance in GDF2 Associated with Pulmonary Arterial Hypertension

por Gallego, Natalia, Cruz-Utrilla, Alejandro, Guillén, Inmaculada, Bonora, Amparo Moya, Ochoa, Nuria, Arias, Pedro, Lapunzina, Pablo, Escribano-Subias, Pilar, Nevado, Julián, Tenorio-Castaño, Jair
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

Reduction of NADPH-Oxidase Activity Ameliorates the Cardiovascular Phenotype in a Mouse Model of Williams-Beuren Syndrome

por Campuzano, Victoria, Segura-Puimedon, Maria, Terrado, Verena, Sánchez-Rodríguez, Carolina, Coustets, Mathilde, Menacho-Márquez, Mauricio, Nevado, Julián, Bustelo, Xosé R., Francke, Uta, Pérez-Jurado, Luis A.
Publicado 2012

Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

por Verdin, Hannah, D'haene, Barbara, Beysen, Diane, Novikova, Yana, Menten, Björn, Sante, Tom, Lapunzina, Pablo, Nevado, Julian, Carvalho, Claudia M. B., Lupski, James R., De Baere, Elfride
Publicado 2013

Clinical and Genetic Aspects of Phelan–McDermid Syndrome: An Interdisciplinary Approach to Management

por Cammarata-Scalisi, Francisco, Callea, Michele, Martinelli, Diego, Willoughby, Colin Eric, Tadich, Antonio Cárdenas, Araya Castillo, Maykol, Lacruz-Rengel, María Angelina, Medina, Marco, Grimaldi, Piercesare, Bertini, Enrico, Nevado, Julián
Publicado 2022

Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis

por Limeres, Jacobo, Serrano, Candela, De Nova, Joaquin Manuel, Silvestre-Rangil, Javier, Machuca, Guillermo, Maura, Isabel, Cruz Ruiz-Villandiego, Jose, Diz, Pedro, Blanco-Lago, Raquel, Nevado, Julian, Diniz-Freitas, Marcio
Publicado 2020

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