Works matching AU Nevado, Julián

Results: 74

Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.

Published in:

Clinical Genetics, 2025, v. 108, n. 2, p. 224, doi. 10.1111/cge.14761

By:

Parra, Alejandro;
Jimenez‐Estrada, Juan A.;
Vásquez‐Amell, Valeria;
Cazalla, Mario;
Rodríguez‐Canó, Manuel;
Gallego‐Zazo, Natalia;
Miranda, Lucia;
Mora‐Gómez, Mónica;
Vallespín, Elena;
Mena, Rocío;
Fernández, Luis;
Silván, Cristina;
Arias, Pedro;
Dominguez‐Jiménez, Marta;
Guillén‐Navarro, Encarna;
Nevado, Julián;
Tenorio‐Castano, Jair;
Ruiz‐Pérez, Víctor L.;
Lapunzina, Pablo

Publication type:

Article

Amadori adducts activate nuclear factor-κB-related proinflammatory genes in cultured human peritoneal mesothelial cells.

Published in:

British Journal of Pharmacology, 2005, v. 146, n. 2, p. 268, doi. 10.1038/sj.bjp.0706309

By:

Nevado, Julián;
Peiró, Concepción;
Vallejo, Susana;
El-Assar, Mariam;
Lafuente, Nuria;
Matesanz, Nuria;
Azcutia, Veronica;
Cercas, Elena;
Sánchez-Ferrer, Carlos F.;
Rodríguez-Mañas, Leocadio

Publication type:

Article

Glycosylated human oxyhaemoglobin activates nuclear factor-?B and activator protein-1 in cultured human aortic smooth muscle.

Published in:

British Journal of Pharmacology, 2003, v. 140, n. 4, p. 681, doi. 10.1038/sj.bjp.0705483

By:

Peiró, Concepción;
Matesanz, Nuria;
Nevado, Julián;
Lafuente, Nuria;
Cercas, Elena;
Azcutia, Verónica;
Vallejo, Susana;
Rodriacute;guez-Mañas, Leocadio;
Sánchez-Ferrer, Carlos F.

Publication type:

Article

A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 100, doi. 10.1002/ajmg.a.62994

By:

Álvarez, Luis Francisco González;
Tenorio‐Castaño, Jair;
Poletta, Fernando A.;
Santos‐Simarro, Fernando;
Arias, Pedro;
Gallego, Natalia;
Orioli, Iêda Maria;
Mundlos, Stefan;
Castilla, Eduardo E.;
Martínez‐Glez, Víctor;
Martínez‐Frías, María Luisa;
Ruiz‐Pérez, Víctor L.;
Nevado, Julián;
Lapunzina, Pablo

Publication type:

Article

Coping with Wolf-Hirschhorn syndrome: quality of life and psychosocial features of family carers.

Published in:

2020

By:

Berrocoso, Sarah;
Amayra, Imanol;
Lázaro, Esther;
Martínez, Oscar;
López-Paz, Juan Francisco;
García, Maitane;
Pérez, Manuel;
Al-Rashaida, Mohammad;
Rodríguez, Alicia Aurora;
Luna, Paula Maria;
Pérez-Núñez, Paula;
Blanco, Raquel;
Nevado, Julián

Publication type:

journal article

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

Published in:

Cells (2073-4409), 2021, v. 10, n. 11, p. 3178, doi. 10.3390/cells10113178

By:

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

Publication type:

Article

AMOTL1‐Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities.

Published in:

Clinical Genetics, 2025, v. 107, n. 2, p. 234, doi. 10.1111/cge.14644

By:

Gallego‐Zazo, Natalia;
Tenorio‐Castano, Jair;
Parra, Alejandro;
Nevado, Julián;
Cazalla, Mario;
Lucas‐Castro, Elsa;
Heath, Karen E.;
Palomares, María;
Soengas, Emma;
Lledín, M. Dolores;
Larrea, Emily;
Olveira, Antonio;
Morte, Beatriz;
Carracedo, Ángel;
Lapunzina, Pablo

Publication type:

Article

Non‐immune hydrops fetalis is associated with bi‐allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene.

Published in:

Clinical Genetics, 2024, v. 106, n. 6, p. 713, doi. 10.1111/cge.14601

By:

Tenorio‐Castano, Jair;
Mansilla Aparicio, Elena;
García Santiago, Fe Amalia;
Klotz, Cherise M.;
Regojo, Rita María;
Anguita, Estefanía;
Ryan, Erin;
Juusola, Jane;
Herrero, Beatriz;
Arias, Pedro;
Parra, Alejandro;
Pascual, Patricia;
Gallego, Natalia;
Cazalla, Mario;
Rodriguez‐González, Roberto;
Antolín, Eugenia;
Nevado, Julián;
Ruiz‐Perez, Víctor L.;
Lapunzina, Pablo

Publication type:

Article

Identification of copy‐number variants in patients with overgrowth disorders.

Published in:

Clinical Genetics, 2024, v. 106, n. 5, p. 614, doi. 10.1111/cge.14596

By:

Parra, Alejandro;
Tenorio‐Castano, Jair;
Nevado, Julián;
Cazalla, Mario;
Miranda‐Alcaraz, Lucía;
Gallego‐Zazo, Natalia;
Silván, Cristina;
Arias, Pedro;
Pozo‐Román, Jesús;
Ballesta‐Martínez, María Juliana;
Guillén‐Navarro, Encarna;
Arroyo, Ignacio;
Lotersztein, Vanesa;
Cosentino, Viviana;
González‐Meneses, Antonio;
Galán, Enrique;
Rosell, Jordi;
Ramos, Feliciano;
Plasencia, Antonio;
Rosa, Alberto L.

Publication type:

Article

Lamb–Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.

Published in:

Clinical Genetics, 2023, v. 104, n. 6, p. 637, doi. 10.1111/cge.14423

By:

Tenorio‐Castano, Jair;
Gómez, Ángela Sánchez‐Algaba;
Coronado, Mónica;
Rodríguez‐Martín, Pilar;
Parra, Alejandro;
Pascual, Patricia;
Cazalla, Mario;
Gallego, Natalia;
Arias, Pedro;
Morales, Aixa V.;
Nevado, Julián;
Lapunzina, Pablo

Publication type:

Article

Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early‐onset and fast cyst progression.

Published in:

Clinical Genetics, 2020, v. 97, n. 6, p. 857, doi. 10.1111/cge.13738

By:

Peces, Ramón;
Mena, Rocio;
Peces, Carlos;
Cuesta, Emilio;
Selgas, Rafael;
Barruz, Pilar;
Lapunzina, Pablo;
Nevado, Julián

Publication type:

Article

Front Cover.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. i, doi. 10.1111/cge.13733

By:

Pascual‐Alonso, Ainhoa;
Blasco, Laura;
Vidal, Silvia;
Gean, Esther;
Rubio, Patricia;
O'Callaghan, Mar;
Martínez‐Monseny, Antonio F.;
Castells, Alba Aina;
Xiol, Clara;
Català, Vicenç;
Brandi, Nuria;
Pacheco, Paola;
Ros, Carlota;
Campo, Miguel;
Guillén, Encarna;
Ibañez, Salva;
Sánchez, María J.;
Lapunzina, Pablo;
Nevado, Julián;
Santos, Fernando

Publication type:

Article

Molecular characterization of Spanish patients with MECP2 duplication syndrome.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 610, doi. 10.1111/cge.13718

By:

Pascual‐Alonso, Ainhoa;
Blasco, Laura;
Vidal, Silvia;
Gean, Esther;
Rubio, Patricia;
O'Callaghan, Mar;
Martínez‐Monseny, Antonio F.;
Castells, Alba Aina;
Xiol, Clara;
Català, Vicenç;
Brandi, Nuria;
Pacheco, Paola;
Ros, Carlota;
Campo, Miguel;
Guillén, Encarna;
Ibañez, Salva;
Sánchez, María J.;
Lapunzina, Pablo;
Nevado, Julián;
Santos, Fernando

Publication type:

Article

Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. 467, doi. 10.1111/cge.13689

By:

Tenorio, Jair;
Nevado, Julián;
González‐Meneses, Antonio;
Arias, Pedro;
Dapía, Irene;
Venegas‐Vega, Carlos A.;
Calvente, María;
Hernández, Alicia;
Landera, Leandro;
Ramos, Sergio;
Cigudosa, Juan Cruz;
Pérez‐Jurado, Luis A.;
Lapunzina, Pablo

Publication type:

Article

MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.

Published in:

Clinical Genetics, 2019, v. 95, n. 6, p. 726, doi. 10.1111/cge.13504

By:

Tenorio, Jair;
Alarcón, Pablo;
Arias, Pedro;
Ramos, Feliciano J.;
Campistol, Jaume;
Climent, Salvador;
García‐Miñaur, Sixto;
Dapía, Irene;
Hernández, Alicia;
Nevado, Julián;
Solís, Mario;
Ruiz‐Pérez, Víctor L.;
Lapunzina, Pablo

Publication type:

Article

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1615, doi. 10.1038/ejhg.2015.51

By:

Nevado, Julián;
Rosenfeld, Jill A;
Mena, Rocío;
Palomares-Bralo, María;
Vallespín, Elena;
Ángeles Mori, María;
Tenorio, Jair A;
Gripp, Karen W;
Denenberg, Elizabeth;
del Campo, Miguel;
Plaja, Alberto;
Martín-Arenas, Rubén;
Santos-Simarro, Fernando;
Armengol, Lluis;
Gowans, Gordon;
Orera, María;
Sanchez-Hombre, M Carmen;
Corbacho-Fernández, Esther;
Fernández-Jaén, Alberto;
Haldeman-Englert, Chad

Publication type:

Article

Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 416, doi. 10.1038/ejhg.2010.236

By:

Romanelli, Valeria;
Meneses, Heloisa N. M.;
Fernández, Luis;
Martínez-Glez, Victor;
Gracia-Bouthelier, Ricardo;
Fraga, Mario F.;
Guillén, Encarna;
Nevado, Julián;
Gean, Esther;
Martorell, Loreto;
Marfil, Victoria Esteban;
García-Miñaur, Sixto;
Lapunzina, Pablo

Publication type:

Article

Transport of hexoses in yeast. Re-examination of the sugar phosphorylation hypothesis with a new experimental approach.

Published in:

Yeast, 1994, v. 10, n. 1, p. 59, doi. 10.1002/yea.320100106

By:

Nevado, Julián;
Navarro, MA Asunción;
Heredia, Claudio F.

Publication type:

Article

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

Published in:

PLoS Genetics, 2012, v. 8, n. 2, p. 1, doi. 10.1371/journal.pgen.1002458

By:

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.

Publication type:

Article

A novel and de novo deletion in the <i>OCRL1</i> gene associated with a severe form of Lowe syndrome.

Published in:

2013

By:

Peces, Ramón;
Peces, Carlos;
de Sousa, Erika;
Vega, Cristina;
Selgas, Rafael;
Nevado, Julián

Publication type:

Report

46, XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy.

Published in:

Clinical Endocrinology, 2016, v. 85, n. 4, p. 673, doi. 10.1111/cen.13126

By:

Grinspon, Romina P.;
Nevado, Julián;
Mori Alvarez, María de los Ángeles;
Rey, Graciela;
Castera, Roberto;
Venara, Marcela;
Chiesa, Ana;
Podestá, Miguel;
Lapunzina, Pablo;
Rey, Rodolfo A.

Publication type:

Article

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

Published in:

Genes, 2023, v. 14, n. 8, p. 1628, doi. 10.3390/genes14081628

By:

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

Publication type:

Article

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

Published in:

Genes, 2023, v. 14, n. 4, p. 820, doi. 10.3390/genes14040820

By:

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

Publication type:

Article

Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature.

Published in:

Genes, 2022, v. 13, n. 5, p. 927, doi. 10.3390/genes13050927

By:

Gallego-Zazo, Natalia;
Cruz-Utrilla, Alejandro;
del Cerro, María Jesús;
Ochoa Parra, Nuria;
Blanco, Julián Nevado;
Arias, Pedro;
Lapunzina, Pablo;
Escribano-Subias, Pilar;
Tenorio-Castaño, Jair

Publication type:

Article

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

Published in:

Genes, 2022, v. 13, n. 3, p. 504, doi. 10.3390/genes13030504

By:

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

Publication type:

Article

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

Published in:

Genes, 2022, v. 13, n. 3, p. 394, doi. 10.3390/genes13030394

By:

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

Publication type:

Article

Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.

Published in:

Genes, 2021, v. 12, n. 5, p. 738, doi. 10.3390/genes12050738

By:

Tenorio-Castaño, Jair;
Morte, Beatriz;
Nevado, Julián;
Martinez-Glez, Víctor;
Santos-Simarro, Fernando;
García-Miñaúr, Sixto;
Palomares-Bralo, María;
Pacio-Míguez, Marta;
Gómez, Beatriz;
Arias, Pedro;
Alcochea, Alba;
Carrión, Juan;
Arias, Patricia;
Almoguera, Berta;
López-Grondona, Fermina;
Lorda-Sanchez, Isabel;
Galán-Gómez, Enrique;
Valenzuela, Irene;
Méndez Perez, María Pilar;
Cuscó, Ivón

Publication type:

Article

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

Published in:

PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0172363

By:

Blanco-Kelly, Fiona;
Palomares, María;
Vallespín, Elena;
Villaverde, Cristina;
Martín-Arenas, Rubén;
Vélez-Monsalve, Camilo;
Lorda-Sánchez, Isabel;
Nevado, Julián;
Trujillo-Tiebas, María José;
Lapunzina, Pablo;
Ayuso, Carmen;
Corton, Marta

Publication type:

Article

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.652454

By:

Nevado, Julián;
García-Miñaúr, Sixto;
Palomares-Bralo, María;
Vallespín, Elena;
Guillén-Navarro, Encarna;
Rosell, Jordi;
Bel-Fenellós, Cristina;
Ángeles Mori, María;
Milá, Montserrat;
del Campo, Miguel;
Barrúz, Pilar;
Santos-Simarro, Fernando;
Obregón, Gabriela;
Orellana, Carmen;
Pachajoa, Harry;
Antonio Tenorio, Jair;
Galán, Enrique;
Cigudosa, Juan C.;
Moresco, Angélica;
Saleme, César

Publication type:

Article

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

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.645595

By:

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

Publication type:

Article

Simpson-golabi-behmel syndrome types I and II.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0138-0

By:

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

Publication type:

Article

Simpson-Golabi-Behmel syndrome types I and II.

Published in:

2014

By:

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

Publication type:

journal article

Endothelial dysfunction in aged humans is related with oxidative stress and vascular inflammation.

Published in:

Aging Cell, 2009, v. 8, n. 3, p. 226, doi. 10.1111/j.1474-9726.2009.00466.x

By:

Rodríguez-Mañas, Leocadio;
El-Assar, Mariam;
Vallejo, Susana;
López-Dóriga, Pedro;
Solís, Joaquin;
Petidier, Roberto;
Montes, Manuel;
Nevado, Julián;
Castro, Marta;
Gómez-Guerrero, Carmen;
Peiró, Concepción;
Sánchez-Ferrer, Carlos F.

Publication type:

Article

Haemophilia B, severe childhood obesity and other extra‐haematological features associated with similar 4Mb‐deletions on Xq27: Clinical findings, molecular insights and literature update.

Published in:

Haemophilia, 2023, v. 29, n. 3, p. 844, doi. 10.1111/hae.14779

By:

Radic, Claudia P.;
Abelleyro, Miguel M.;
Ziegler, Betiana;
Marchione, Vanina D.;
Nevado, Julián;
Lapunzina, Pablo;
Sciuccati, Gabriela;
Neme, Daniela;
Rossetti, Liliana C.;
Bonduel, Mariana;
De Brasi, Carlos D.

Publication type:

Article

Pathways Responsible for Apoptosis Resulting from Amadori-Induced Oxidative and Nitrosative Stress in Human Mesothelial Cells.

Published in:

American Journal of Nephrology, 2011, v. 34, n. 2, p. 104, doi. 10.1159/000329107

By:

Sánchez-Rodríguez, Carolina;
Peiró, Concepción;
Vallejo, Susana;
Matesanz, Nuria;
El-Assar, Mariam;
Azcutia, Verónica;
Romacho, Tania;
Sánchez-Ferrer, Carlos Félix;
Rodríguez-Mañas, Leocadio;
Nevado, Julián

Publication type:

Article

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

Published in:

European Journal of Endocrinology, 2021, v. 185, n. 5, p. 691, doi. 10.1530/EJE-21-0557

By:

Sentchordi-Montané, Lucía;
Benito-Sanz, Sara;
Aza-Carmona, Miriam;
Díaz-González, Francisca;
Modamio-Høybjør, Silvia;
de la Torre, Carolina;
Nevado, Julián;
Ruiz-Ocaña, Pablo;
Bezanilla-López, Carolina;
Prieto, Pablo;
Bahíllo-Curieses, Pilar;
Carcavilla, Atilano;
Mulero-Collantes, Inés;
Barreda-Bonis, Ana C.;
Cruz-Rojo, Jaime;
Ramírez-Fernández, Joaquín;
Bermúdez de la Vega, José Antonio;
Travessa, André M.;
de Buitrago Amigo, Jesús González;
del Pozo, Angela

Publication type:

Article

A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.

Published in:

European Journal of Endocrinology, 2019, v. 181, n. 5, p. K43, doi. 10.1530/EJE-19-0563

By:

Keselman, Ana Claudia;
Martin, Ayelen;
Scaglia, Paula Alejandra;
Sanguineti, Nora María;
Armando, Romina;
Gutiérrez, Mariana;
Braslavsky, Débora;
Ballerini, María Gabriela;
Ropelato, María Gabriela;
Ramirez, Laura;
Landi, Estefanía;
Domené, Sabina;
Castro, Julia F.;
Cassinelli, Hamilton;
Casali, Bárbara;
Rey, Graciela del;
Barros, Ángel Campos;
Blanco, Julián Nevado;
Domené, Horacio;
Jasper, Héctor

Publication type:

Article

TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes.

Published in:

Familial Cancer, 2017, v. 16, n. 2, p. 243, doi. 10.1007/s10689-016-9935-z

By:

Andrade, Raissa;
Santos, Anna;
Aguirre Neto, Joaquim;
Nevado, Julián;
Lapunzina, Pablo;
Vargas, Fernando

Publication type:

Article

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Published in:

Human Genetics, 2016, v. 135, n. 5, p. 569, doi. 10.1007/s00439-016-1655-9

By:

Szafranski, Przemyslaw;
Gambin, Tomasz;
Dharmadhikari, Avinash;
Akdemir, Kadir;
Jhangiani, Shalini;
Schuette, Jennifer;
Godiwala, Nihal;
Yatsenko, Svetlana;
Sebastian, Jessica;
Madan-Khetarpal, Suneeta;
Surti, Urvashi;
Abellar, Rosanna;
Bateman, David;
Wilson, Ashley;
Markham, Melinda;
Slamon, Jill;
Santos-Simarro, Fernando;
Palomares, María;
Nevado, Julián;
Lapunzina, Pablo

Publication type:

Article

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.

Published in:

Human Genetics, 2012, v. 131, n. 3, p. 513, doi. 10.1007/s00439-011-1095-5

By:

Armengol, Lluís;
Nevado, Julián;
Serra-Juhé, Clara;
Plaja, Alberto;
Mediano, Carmen;
García-Santiago, Fe;
García-Aragonés, Manel;
Villa, Olaya;
Mansilla, Elena;
Preciado, Cristina;
Fernández, Luis;
Mori, María;
García-Pérez, Lidia;
Lapunzina, Pablo;
Pérez-Jurado, Luis

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Article

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

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Antioxidants, 2020, v. 9, n. 7, p. 572, doi. 10.3390/antiox9070572

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Sánchez-Rodríguez, Carolina;
Peiró, Concepción;
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Article

Phenotype and psychometric characterization of Phelan-McDermid syndrome patients: pioneering towards personalized medicine.

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Frontiers in Psychiatry, 2025, p. 1, doi. 10.3389/fpsyt.2025.1511962

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Nevado, Julián;
Ciceri, Filippo;
Bel-Fenellós, Cristina;
Tenorio-Castaño, Jair A.;
Maes, Tamara;
Xaus, Jordi;
Buesa, Carlos;
Lapunzina, Pablo

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Article

Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants.

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Cancers, 2022, v. 14, n. 15, p. 3807, doi. 10.3390/cancers14153807

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Cardoso, Leila Cabral de Almeida;
Parra, Alejandro;
Gil, Cristina Ríos;
Arias, Pedro;
Gallego, Natalia;
Romanelli, Valeria;
Kantaputra, Piranit Nik;
Lima, Leonardo;
Llerena Júnior, Juan Clinton;
Arberas, Claudia;
Guillén-Navarro, Encarna;
Nevado, Julián;
Tenorio-Castano, Jair;
Lapunzina, Pablo

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Article

Ginkgo biloba extract (EGb761) protects against aging-related caspase-mediated apoptosis in rat cochlea.

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Acta Oto-Laryngologica, 2010, v. 130, n. 10, p. 1101, doi. 10.3109/00016481003713657

By:

Nevado, Julián;
Sanz, Ricardo;
Sánchez-Rodríguez, Carolina;
García-Berrocal, José Ramón;
Martín-Sanz, Eduardo;
González-García, José Ángel;
Esteban-Sánchez, Jonathan;
Ramírez-Camacho, Rafael

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Article

Endogenous protection against oxidative stress caused by cisplatin: role of superoxide dismutase.

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Acta Oto-Laryngologica, 2010, v. 130, n. 4, p. 453, doi. 10.3109/00016480903311203

By:

González-García, José Ángel;
Nevado, Julián;
García-Berrocal, José Ramón;
Sánchez-Rodríguez, Carolina;
Trinidad, Almudena;
Sanz, Ricardo;
Ramírez-Camacho, Rafael

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Article

Ageing evokes an intrinsic pro-apoptotic signalling pathway in rat cochlea.

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Acta Oto-Laryngologica, 2006, v. 126, n. 11, p. 1134, doi. 10.1080/00016480600672592

By:

Nevado, Julián;
Sanz, Ricardo;
Casqueiro, José C.;
Ayala, Alejandra;
García-Berrocal, José R.;
Ramírez-Camacho, Rafael

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Article

International meeting on Wolf‐Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 257, doi. 10.1002/ajmg.a.61406

By:

Nevado, Julián;
Ho, Karen S.;
Zollino, Marcella;
Blanco, Raquel;
Cobaleda, César;
Golzio, Christelle;
Beaudry‐Bellefeuille, Isabelle;
Berrocoso, Sarah;
Limeres, Jacobo;
Barrúz, Pilar;
Serrano‐Martín, Candela;
Cafiero, Concetta;
Málaga, Ignacio;
Marangi, Giuseppe;
Campos‐Sánchez, Elena;
Moriyón‐Iglesias, Tania;
Márquez, Sorangui;
Markham, Leah;
Twede, Hope;
Lortz, Amanda

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Article

Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

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American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2740, doi. 10.1002/ajmg.a.37852

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Tenorio, Jair;
Romanelli, Valeria;
Martin‐Trujillo, Alex;
Fernández, García‐Moya;
Segovia, Mabel;
Perandones, Claudia;
Pérez Jurado, Luis A.;
Esteller, Manel;
Fraga, Mario;
Arias, Pedro;
Gordo, Gema;
Dapía, Irene;
Mena, Rocío;
Palomares, María;
Pérez de Nanclares, Guiomar;
Nevado, Julián;
García‐Miñaur, Sixto;
Santos‐Simarro, Fernando;
Martinez‐Glez, Víctor;
Vallespín, Elena

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Article

Cover Image, Volume 170A, Number 4, April 2016.

Published in:

2016

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Scheps, Karen G.;
Francipane, Liliana;
Nevado, Julián;
Basack, Nora;
Attie, Myriam;
Bergonzi, María Fernanda;
Cerrone, Gloria E.;
Lapunzina, Pablo;
Varela, Viviana

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Other

Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability.

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American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 986, doi. 10.1002/ajmg.a.37532

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Scheps, Karen G.;
Francipane, Liliana;
Nevado, Julián;
Basack, Nora;
Attie, Myriam;
Bergonzi, María Fernanda;
Cerrone, Gloria E.;
Lapunzina, Pablo;
Varela, Viviana

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Article