Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

194 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Longitudinal Changes in Epigenetic Age Acceleration in Aviremic Human Immunodeficiency Virus-Infected Recipients of Long-term Antiretroviral Treatment.
Esteban-Cantos A, Montejano R, Rodríguez-Centeno J, Saiz-Medrano G, De Miguel R, Barruz P, Bernardino JI, Mena-Garay B, Cadiñanos J, Jiménez-González M, Nevado J, Valencia E, Mayoral-Muñoz M, Arribas JR, Rodés B. Esteban-Cantos A, et al. Among authors: nevado j. J Infect Dis. 2022 Jan 18;225(2):287-294. doi: 10.1093/infdis/jiab338. J Infect Dis. 2022. PMID: 34166509
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.
Palencia-Campos A, Ullah A, Nevado J, Yildirim R, Unal E, Ciorraga M, Barruz P, Chico L, Piceci-Sparascio F, Guida V, De Luca A, Kayserili H, Ullah I, Burmeister M, Lapunzina P, Ahmad W, Morales AV, Ruiz-Perez VL. Palencia-Campos A, et al. Among authors: nevado j. Hum Mol Genet. 2017 Dec 1;26(23):4556-4571. doi: 10.1093/hmg/ddx335. Hum Mol Genet. 2017. PMID: 28973407
Epigenetic age acceleration changes 2 years after antiretroviral therapy initiation in adults with HIV: a substudy of the NEAT001/ANRS143 randomised trial.
Esteban-Cantos A, Rodríguez-Centeno J, Barruz P, Alejos B, Saiz-Medrano G, Nevado J, Martin A, Gayá F, De Miguel R, Bernardino JI, Montejano R, Mena-Garay B, Cadiñanos J, Florence E, Mulcahy F, Banhegyi D, Antinori A, Pozniak A, Wallet C, Raffi F, Rodés B, Arribas JR; NEAT001/ANRS143 Study Group. Esteban-Cantos A, et al. Among authors: nevado j. Lancet HIV. 2021 Apr;8(4):e197-e205. doi: 10.1016/S2352-3018(21)00006-0. Lancet HIV. 2021. PMID: 33794182
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.
Peces R, Mena R, Peces C, Barruz P, Trujillo H, Carreño A, Espinosa L, Selgas R, Lapunzina P, Nevado J. Peces R, et al. Among authors: nevado j. Clin Kidney J. 2021 Apr 28;14(8):1990-1993. doi: 10.1093/ckj/sfab083. eCollection 2021 Aug. Clin Kidney J. 2021. PMID: 34345425 Free PMC article. No abstract available.
International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.
Nevado J, Ho KS, Zollino M, Blanco R, Cobaleda C, Golzio C, Beaudry-Bellefeuille I, Berrocoso S, Limeres J, Barrúz P, Serrano-Martín C, Cafiero C, Málaga I, Marangi G, Campos-Sánchez E, Moriyón-Iglesias T, Márquez S, Markham L, Twede H, Lortz A, Olson L, Sheng X, Weng C, Wassman ER 3rd, Newcomb T, Wassman ER, Carey JC, Battaglia A, López-Granados E; Wolf-Hirschhorn Spain's Working Group; Douglas D, Lapunzina P. Nevado J, et al. Am J Med Genet A. 2020 Jan;182(1):257-267. doi: 10.1002/ajmg.a.61406. Epub 2019 Nov 25. Am J Med Genet A. 2020. PMID: 31769173
Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome.
Nevado J, Bel-Fenellós C, Sandoval-Talamantes AK, Hernández A, Biencinto-López C, Martínez-Fernández ML, Barrúz P, Santos-Simarro F, Mori-Álvarez MÁ, Mansilla E, García-Santiago FA, Valcorba I, Sáenz-Rico B, Martínez-Frías ML, Lapunzina P. Nevado J, et al. Front Genet. 2021 Jul 30;12:645595. doi: 10.3389/fgene.2021.645595. eCollection 2021. Front Genet. 2021. PMID: 34394178 Free PMC article.
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
Nevado J, García-Miñaúr S, Palomares-Bralo M, Vallespín E, Guillén-Navarro E, Rosell J, Bel-Fenellós C, Mori MÁ, Milá M, Del Campo M, Barrúz P, Santos-Simarro F, Obregón G, Orellana C, Pachajoa H, Tenorio JA, Galán E, Cigudosa JC, Moresco A, Saleme C, Castillo S, Gabau E, Pérez-Jurado L, Barcia A, Martín MS, Mansilla E, Vallcorba I, García-Murillo P, Cammarata-Scalisi F, Gonçalves Pereira N, Blanco-Lago R, Serrano M, Ortigoza-Escobar JD, Gener B, Seidel VA, Tirado P, Lapunzina P; Spanish PMS Working Group. Nevado J, et al. Front Genet. 2022 Apr 12;13:652454. doi: 10.3389/fgene.2022.652454. eCollection 2022. Front Genet. 2022. PMID: 35495150 Free PMC article.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Choufani S, McNiven V, Cytrynbaum C, Jangjoo M, Adam MP, Bjornsson HT, Harris J, Dyment DA, Graham GE, Nezarati MM, Aul RB, Castiglioni C, Breckpot J, Devriendt K, Stewart H, Banos-Pinero B, Mehta S, Sandford R, Dunn C, Mathevet R, van Maldergem L, Piard J, Brischoux-Boucher E, Vitobello A, Faivre L, Bournez M, Tran-Mau F, Maystadt I, Fernández-Jaén A, Alvarez S, García-Prieto ID, Alkuraya FS, Alsaif HS, Rahbeeni Z, El-Akouri K, Al-Mureikhi M, Spillmann RC, Shashi V, Sanchez-Lara PA, Graham JM Jr, Roberts A, Chorin O, Evrony GD, Kraatari-Tiri M, Dudding-Byth T, Richardson A, Hunt D, Hamilton L, Dyack S, Mendelsohn BA, Rodríguez N, Sánchez-Martínez R, Tenorio-Castaño J, Nevado J, Lapunzina P, Tirado P, Carminho Amaro Rodrigues MT, Quteineh L, Innes AM, Kline AD, Au PYB, Weksberg R. Choufani S, et al. Among authors: nevado j. Am J Hum Genet. 2022 Oct 6;109(10):1867-1884. doi: 10.1016/j.ajhg.2022.08.014. Epub 2022 Sep 20. Am J Hum Genet. 2022. PMID: 36130591 Free PMC article.
194 results