Works by Nevado, Julián

Results: 73

Spontaneous remission in a child with an NPHS1-based congenital nephrotic syndrome.

Published in:

Clinical Kidney Journal, 2022, v. 15, n. 10, p. 1969, doi. 10.1093/ckj/sfac086

By:

Espinosa, Laura García;
Santoveña, Alejandro Zarauza;
Blanco, Julián Nevado;
Alvariño, Mar Gutiérrez;
Feito, Juan Bravo;
Hijosa, Marta Melgosa

Publication type:

Article

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

Published in:

Clinical Kidney Journal, 2021, v. 14, n. 8, p. 1987, doi. 10.1093/ckj/sfab082

By:

Peces, Ramón;
Mena, Rocío;
Peces, Carlos;
Cuesta, Emilio;
Lapunzina, Pablo;
Selgas, Rafael;
Nevado, Julián

Publication type:

Article

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.

Published in:

Clinical Kidney Journal, 2021, v. 14, n. 8, p. 1990, doi. 10.1093/ckj/sfab083

By:

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

Publication type:

Article

Mortality in Patients with 22q11.2 Rearrangements.

Published in:

Genes, 2024, v. 15, n. 9, p. 1146, doi. 10.3390/genes15091146

By:

Cilio Arroyuelo, Melisa;
Tenorio-Castano, Jair;
García-Moya, Luis Fernández;
Parra, Alejandro;
Cazalla, Mario;
Gallego, Natalia;
Miranda, Lucía;
Mori, María Ángeles;
García-Gueretta, Luis;
Labrandero, Carlos;
Mansilla, Elena;
Rikeros, Emi;
García-Santiago, Fe;
Vallcorba, Isabel;
Arias, Pedro;
Silván, Cristina;
Deiros Bronte, Lucia;
Nevado, Julián;
Lapunzina, Pablo

Publication type:

Article

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

Published in:

Genes, 2023, v. 14, n. 11, p. 2091, doi. 10.3390/genes14112091

By:

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

Publication type:

Article

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

Published in:

Genes, 2023, v. 14, n. 10, p. 1878, doi. 10.3390/genes14101878

By:

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

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

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

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

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 4126, doi. 10.1093/hmg/ddv152

By:

Caparrós-Martín, José A.;
De Luca, Alessandro;
Cartault, François;
Aglan, Mona;
Temtamy, Samia;
Otaify, Ghada A.;
Mehrez, Mennat;
Valencia, María;
Vázquez, Laura;
Alessandri, Jean-Luc;
Nevado, Julián;
Rueda-Arenas, Inmaculada;
Heath, Karen E.;
Digilio, Maria Cristina;
Dallapiccola, Bruno;
Goodship, Judith A.;
Mill, Pleasantine;
Lapunzina, Pablo;
Ruiz-Perez, Victor L.

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

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

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

Publication type:

Article

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

Published in:

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

By:

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

Publication type:

Article

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

Published in:

2016

By:

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

Publication type:

Other

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

Published in:

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

By:

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

Publication type:

Article

Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1018, doi. 10.1002/ajmg.a.36879

By:

García‐Santiago, Fe Amalia;
Martínez‐Glez, Víctor;
Santos, Fernando;
García‐Miñaur, Sixto;
Mansilla, Elena;
Meneses, Antonio González;
Rosell, Jordi;
Granero, Ángeles Pérez;
Vallespín, Elena;
Fernández, Luis;
Sierra, Blanca;
Oliver‐Bonet, María;
Palomares, María;
de Torres, María Luisa;
Mori, María Ángeles;
Nevado, Julián;
Heath, Karen E.;
Delicado, Alicia;
Lapunzina, Pablo

Publication type:

Article

Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2908, doi. 10.1002/ajmg.a.36716

By:

Andrade, Raissa Coelho;
Nevado, Julián;
de Faria Domingues de Lima, Maria Angélica;
Saad, Tânia;
Moraes, Lucia;
Chimelli, Leila;
Lapunzina, Pablo;
Vargas, Fernando Regla

Publication type:

Article

Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1950, doi. 10.1002/ajmg.a.35960

By:

Vallespín, ElENa;
Palomares Bralo, María;
Mori, M. Ángeles;
Martín, Rubén;
García ‐ Miñaúr, Sixto;
Fernández, Luis;
de Torres, M. Luisa;
García ‐ Santiago, Fe;
Mansilla, ElENa;
Santos, Fernando;
M ‐ Montaño, Victoria E.;
Crespo, M. CarmEN;
Martín, Sol;
Martínez ‐ Glez, Victor;
Delicado, Alicia;
Lapunzina, Pablo;
Nevado, Julián

Publication type:

Article

Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2963, doi. 10.1002/ajmg.a.35595

By:

Fernández, Luis;
Nevado, Julián;
De Torres, María L.;
Mansilla, Elena;
Vallespín, Elena;
García-Miñaúr, Sixto;
Palomo, Rebeca;
Deirós, Lucía;
Cabrera, Marta;
Galo, Elia Dina;
Lapunzina, Pablo;
Delicado, Alicia

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

The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways.

Published in:

Scientific Reports, 2017, p. 42937, doi. 10.1038/srep42937

By:

García, Marta;
Barrio, Raquel;
García-Lavandeira, Montserrat;
Garcia-Rendueles, Angela R.;
Escudero, Adela;
Díaz-Rodríguez, Esther;
Gorbenko Del Blanco, Darya;
Fernández, Ana;
de Rijke, Yolanda B.;
Vallespín, Elena;
Nevado, Julián;
Lapunzina, Pablo;
Matre, Vilborg;
Hinkle, Patricia M.;
Hokken-Koelega, Anita C. S.;
de Miguel, María P.;
Cameselle-Teijeiro, José Manuel;
Nistal, Manuel;
Alvarez, Clara V.;
Moreno, José C.

Publication type:

Article

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

Published in:

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

By:

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

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

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

The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 2, p. 186, doi. 10.1002/ajmg.c.31916

By:

Lapunzina, Pablo;
Tenorio‐Castaño, Jair;
Nevado, Julián;
Campos Barros, Ángel;
Pachajoa, Harry;
Ruiz‐Pérez, Víctor L.;
Castilla, Eduardo E.

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

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

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

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1649

By:

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

Publication type:

Article

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

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1321

By:

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

Publication type:

Article

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

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 4, p. N.PAG, doi. 10.1002/mgg3.568

By:

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

Publication type:

Article

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 1, p. 28, doi. 10.1002/mgg3.257

By:

Caparros‐Martin, Jose A.;
Aglan, Mona S.;
Temtamy, Samia;
Otaify, Ghada A.;
Valencia, Maria;
Nevado, Julián;
Vallespin, Elena;
Del Pozo, Angela;
Prior de Castro, Carmen;
Calatrava‐Ferreras, Lucia;
Gutierrez, Pilar;
Bueno, Ana M.;
Sagastizabal, Belen;
Guillen‐Navarro, Encarna;
Ballesta‐Martinez, Maria;
Gonzalez, Vanesa;
Basaran, Sarenur Y.;
Buyukoglan, Ruksan;
Sarikepe, Bilge;
Espinoza‐Valdez, Cecilia

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

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

Published in:

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

By:

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

Publication type:

Article