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Page 1
Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome.
Ventayol-Guirado M, Torres L, Asensio-Landa V, Pérez-Granero Á, Madrid MI, Hernandez-Rodriguez J, Llull-Alberti MV, Lumbreras J, Escribà S, Pons M, Roldan J, Martínez-López I, Heine-Suñer D, Santos-Simarro F. Ventayol-Guirado M, et al. Am J Med Genet A. 2024 Dec;194(12):e63830. doi: 10.1002/ajmg.a.63830. Epub 2024 Aug 2. Am J Med Genet A. 2024. PMID: 39095963
Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca.
Cisneros-Barroso E, Gorram F, Ribot-Sansó MA, Alarcon F, Nuel G, González-Moreno J, Rodríguez A, Hernandez-Rodriguez J, Amengual-Cladera E, Martínez-López I, Ripoll-Vera T, Losada-López I, Heine-Suñer D, Plante-Bordeneuve V. Cisneros-Barroso E, et al. Orphanet J Rare Dis. 2023 Aug 31;18(1):255. doi: 10.1186/s13023-023-02865-5. Orphanet J Rare Dis. 2023. PMID: 37653545 Free PMC article.
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Lecca M, Pehlivan D, Suñer DH, Weiss K, Coste T, Zweier M, Oktay Y, Danial-Farran N, Rosti V, Bonasoni MP, Malara A, Contrò G, Zuntini R, Pollazzon M, Pascarella R, Neri A, Fusco C, Marafi D, Mitani T, Posey JE, Bayramoglu SE, Gezdirici A, Hernandez-Rodriguez J, Cladera EA, Miravet E, Roldan-Busto J, Ruiz MA, Bauzá CV, Ben-Sira L, Sigaudy S, Begemann A, Unger S, Güngör S, Hiz S, Sonmezler E, Zehavi Y, Jerdev M, Balduini A, Zuffardi O, Horvath R, Lochmüller H, Rauch A, Garavelli L, Tournier-Lasserve E, Spiegel R, Lupski JR, Errichiello E. Lecca M, et al. Am J Hum Genet. 2023 Apr 6;110(4):681-690. doi: 10.1016/j.ajhg.2023.03.005. Epub 2023 Mar 29. Am J Hum Genet. 2023. PMID: 36996813 Free PMC article.
Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project.
Hernández-Rodríguez J, Martínez-Valle F, Acebes X, Alerany C, Antón J, Calvo G, Corral M, Cruz J, Mangues-Bafalluy MA, Mateo J, Rivera J, Salazar A, Francisco R, Mallol C, Reig-Viader R, Tigri-Santiña A, Ricart A, Palau F. Hernández-Rodríguez J, et al. Orphanet J Rare Dis. 2025 Jan 29;20(1):42. doi: 10.1186/s13023-024-03518-x. Orphanet J Rare Dis. 2025. PMID: 39875900
Off-label use of biologics in urticarial vasculitis: a European retrospective cohort study.
Maisonobe L, Korganow AS, Berti A, Deroux A, Dupin N, Aractingi S, Emmi G, Vandergheynst F, Fabre M, Kluger N, Roux M, Abisror N, Benyamine A, Cassone G, Chasset F, Doutre MS, Foucher A, Freguin C, Gobert D, Gombeir Y, Hernandez-Rodriguez J, Legouellec N, Pinault AL, Titeca D, Jachiet M, Terrier B; French Vasculitis Study Group. Maisonobe L, et al. Among authors: hernandez rodriguez j. Rheumatology (Oxford). 2025 Jan 23:keaf039. doi: 10.1093/rheumatology/keaf039. Online ahead of print. Rheumatology (Oxford). 2025. PMID: 39847537
Galectin-1 Elicits a Tissue-Specific Anti-Inflammatory and Anti-Degradative Effect Upon LPS-Induced Response in an Ex Vivo Model of Human Fetal Membranes Modeling an Intraamniotic Inflammation.
Hernández-Rodríguez J, Pérez-Hernández J, Flores-Espinosa P, Olmos-Ortiz A, Velazquez P, Zamora-Escudero R, Islas-López M, Helguera-Repetto AC, Hernández-Bones K, Rodríguez-Flores S, Jiménez-Escutia R, Fortanel-Fonseca A, Flores-Pliego A, Lopez-Vancell R, Zaga-Clavellina V. Hernández-Rodríguez J, et al. Am J Reprod Immunol. 2024 Nov;92(5):e70016. doi: 10.1111/aji.70016. Am J Reprod Immunol. 2024. PMID: 39575516 Free PMC article.
Increasing prevalence of psoriasis in Spain: A population-based study (2018-2022).
Cayuela L, Pereyra-Rodríguez JJ, Hernández-Rodríguez JC, Rodríguez Fernandez-Freire L, Cayuela A. Cayuela L, et al. Among authors: hernandez rodriguez jc. Med Clin (Barc). 2024 Nov 18:S0025-7753(24)00590-6. doi: 10.1016/j.medcli.2024.08.019. Online ahead of print. Med Clin (Barc). 2024. PMID: 39562231 English, Spanish.
Influence of gender on Behçet's disease phenotype and irreversible organ damage: Data from the International AIDA Network Behçet's Disease Registry.
Sota J, Ragab G, AlMaglouth I, Lopalco G, Tufan A, Direskeneli H, Hinojosa-Azaola A, Mayrink Giardini HA, Guerriero S, Triggianese P, Sfikakis PP, Piga M, Ruscitti P, Govoni M, Iagnocco A, Carubbi F, Hernández-Rodríguez J, Laymouna AH, Mahmoud AAA, Ghanema M, Aboabat AA, Asfina KN, Alanazi F, Morrone M, Spedicato V, Kucuk H, Kardas R, Alibaz Öner F, Sevik G, Torres-Ruiz J, Kawakami-Campos PA, Parente de Brito Antonelli I, Dammacco R, Chimenti MS, Arida K, Floris A, Gentile M, Ruffilli F, Bellis E, Alunno A, Espinosa G, Gentileschi S, Gaggiano C, Vitale A, Caggiano V, Lopez R, Tarsia M, Monti S, Hatemi G, Karakoç A, Frassi M, Giacomelli R, Tharwat S, Thabet M, Ciccia F, Emmi G, Viapiana O, Şahin A, Sebastiani GD, Batu ED, Ozen S, Sener S, Opris-Belinski D, Costi S, Conforti A, Cattalini M, Bartoloni E, Akkoç N, Gunduz OS, Conti G, Maier A, Giardina A, Li Gobbi F, Parronchi P, Sarzi Puttini P, Breda L, De Paulis A, Carreño E, La Torre F, Więsik-Scewczyk E, de-la Torre A, Mejía-Salgado G, Shahram F, Guiducci S, Maggio MC, Aragona E, Rigante D, Ciavarro A, Önen F, Erten Ş, Insalaco A, Del Giudice E, Barone P, Gicchino F, Brucato A, Lo Gullo A, Mauro A, Karamanakos A, Balistreri… See abstract for full author list ➔ Sota J, et al. Among authors: hernandez rodriguez j. Joint Bone Spine. 2024 Nov 15;92(2):105819. doi: 10.1016/j.jbspin.2024.105819. Online ahead of print. Joint Bone Spine. 2024. PMID: 39549971 Free article.
300 results