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High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
González-Acosta M, Marín F, Puliafito B, Bonifaci N, Fernández A, Navarro M, Salvador H, Balaguer F, Iglesias S, Velasco A, Grau Garces E, Moreno V, Gonzalez-Granado LI, Guerra-García P, Ayala R, Florkin B, Kratz C, Ripperger T, Rosenbaum T, Januszkiewicz-Lewandowska D, Azizi AA, Ragab I, Nathrath M, Pander HJ, Lobitz S, Suerink M, Dahan K, Imschweiler T, Demirsoy U, Brunet J, Lázaro C, Rueda D, Wimmer K, Capellá G, Pineda M. González-Acosta M, et al. Among authors: salvador h. J Med Genet. 2020 Apr;57(4):269-273. doi: 10.1136/jmedgenet-2019-106272. Epub 2019 Sep 7. J Med Genet. 2020. PMID: 31494577 Free PMC article.
DRI Triton SS-OCT applied to detect choroidal nodules in paediatric patients affected by NF1.
Fresno Cañada C, Gispets Parcerisas J, Del Prado Sánchez C, Puigventós Rosanas E, Perez-Jaume S, Salvador H, Llorca Cardeñosa A, Prat Bartomeu J. Fresno Cañada C, et al. Among authors: salvador h. Heliyon. 2024 Apr 9;10(8):e29263. doi: 10.1016/j.heliyon.2024.e29263. eCollection 2024 Apr 30. Heliyon. 2024. PMID: 38644819 Free PMC article.
Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood.
Castellanos E, Plana A, Carrato C, Carrió M, Rosas I, Amilibia E, Roca-Ribas F, Hostalot C, Castillo A, Ros A, Quer A, Becerra JL, Salvador H, Lázaro C, Blanco I, Serra E, Bielsa I; for CSUR Phakomatoses Multidisciplinary Clinics HUGTiP-ICO-IGTP. Castellanos E, et al. Among authors: salvador h. JAMA Dermatol. 2018 Mar 1;154(3):341-346. doi: 10.1001/jamadermatol.2017.5464. JAMA Dermatol. 2018. PMID: 29322178 Free PMC article.
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
Castellanos E, Rosas I, Negro A, Gel B, Alibés A, Baena N, Pineda M, Pi G, Pintos G, Salvador H, Lázaro C, Blanco I, Vilageliu L, Brems H, Grinberg D, Legius E, Serra E. Castellanos E, et al. Among authors: salvador h. Clin Genet. 2020 Feb;97(2):264-275. doi: 10.1111/cge.13649. Epub 2019 Dec 12. Clin Genet. 2020. PMID: 31573083
Use of patient derived orthotopic xenograft models for real-time therapy guidance in a pediatric sporadic malignant peripheral nerve sheath tumor.
Fernández-Rodríguez J, Morales La Madrid A, Gel B, Castañeda Heredia A, Salvador H, Martínez-Iniesta M, Moutinho C, Morata J, Heyn H, Blanco I, Creus-Bachiller E, Capella G, Farré L, Vidal A, Soldado F, Krauel L, Suñol M, Serra E, Villanueva A, Lázaro C. Fernández-Rodríguez J, et al. Among authors: salvador h. Ther Adv Med Oncol. 2020 Jul 3;12:1758835920929579. doi: 10.1177/1758835920929579. eCollection 2020. Ther Adv Med Oncol. 2020. PMID: 32670419 Free PMC article.
Chromosomal translocations inactivating CDKN2A support a single path for malignant peripheral nerve sheath tumor initiation.
Magallón-Lorenz M, Fernández-Rodríguez J, Terribas E, Creus-Batchiller E, Romagosa C, Estival A, Perez Sidelnikova D, Salvador H, Villanueva A, Blanco I, Carrió M, Lázaro C, Serra E, Gel B. Magallón-Lorenz M, et al. Among authors: salvador h. Hum Genet. 2021 Aug;140(8):1241-1252. doi: 10.1007/s00439-021-02296-x. Epub 2021 May 31. Hum Genet. 2021. PMID: 34059954
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.
Hendricks LAJ, Hoogerbrugge N, Venselaar H, Aretz S, Spier I, Legius E, Brems H, de Putter R, Claes KBM, Evans DG, Woodward ER, Genuardi M, Brugnoletti F, van Ierland Y, Dijke K, Tham E, Tesi B, Schuurs-Hoeijmakers JHM, Branchaud M, Salvador H, Jahn A, Schnaiter S, Anastasiadou VC, Brunet J, Oliveira C, Roht L, Blatnik A, Irmejs A; PTEN Study Group; Mensenkamp AR, Vos JR. Hendricks LAJ, et al. Among authors: salvador h. Eur J Med Genet. 2022 Dec;65(12):104632. doi: 10.1016/j.ejmg.2022.104632. Epub 2022 Oct 18. Eur J Med Genet. 2022. PMID: 36270489 Free article.
ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1.
Carton C, Evans DG, Blanco I, Friedrich RE, Ferner RE, Farschtschi S, Salvador H, Azizi AA, Mautner V, Röhl C, Peltonen S, Stivaros S, Legius E, Oostenbrink R; ERN GENTURIS NF1 Tumour Management Guideline Group. Carton C, et al. Among authors: salvador h. EClinicalMedicine. 2023 Jan 13;56:101818. doi: 10.1016/j.eclinm.2022.101818. eCollection 2023 Feb. EClinicalMedicine. 2023. PMID: 36684394 Free PMC article. Review.
Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility.
Pinto EM, Fridman C, Figueiredo BC, Salvador H, Teixeira MR, Pinto C, Pinheiro M, Kratz CP, Lavarino C, Legal EAMF, Le A, Kelly G, Koeppe E, Stoffel EM, Breen K, Hahner S, Heinze B, Techavichit P, Krause A, Ogata T, Fujisawa Y, Walsh MF, Rana HQ, Maxwell KN, Garber JE, Rodriguez-Galindo C, Ribeiro RC, Zambetti GP. Pinto EM, et al. Among authors: salvador h. HGG Adv. 2024 Jan 11;5(1):100244. doi: 10.1016/j.xhgg.2023.100244. Epub 2023 Oct 4. HGG Adv. 2024. PMID: 37794678 Free PMC article.
42 results