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84 results

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Page 1
Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb.
Castellanos E, Bielsa I, Carrato C, Rosas I, Solanes A, Hostalot C, Amilibia E, Prades J, Roca-Ribas F, Lázaro C, Blanco I, Serra E; NF2 Multidisciplinary Clinics HUGTiP-ICO-IMPPC. Castellanos E, et al. Among authors: bielsa i. BMC Med Genomics. 2015 Jan 24;8:2. doi: 10.1186/s12920-015-0076-2. BMC Med Genomics. 2015. PMID: 25739810 Free PMC article.
In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2.
Castellanos E, Rosas I, Solanes A, Bielsa I, Lázaro C, Carrato C, Hostalot C, Prades P, Roca-Ribas F, Blanco I, Serra E; NF2 Multidisciplinary Clinics HUGTiP-ICO-IMPPC. Castellanos E, et al. Among authors: bielsa i. Eur J Hum Genet. 2013 Jul;21(7):769-73. doi: 10.1038/ejhg.2012.261. Epub 2012 Nov 28. Eur J Hum Genet. 2013. PMID: 23188051 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: bielsa i. JAMA Dermatol. 2018 Mar 1;154(3):341-346. doi: 10.1001/jamadermatol.2017.5464. JAMA Dermatol. 2018. PMID: 29322178 Free PMC article.
Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component.
Catasús N, Garcia B, Galván-Femenía I, Plana A, Negro A, Rosas I, Ros A, Amilibia E, Becerra JL, Hostalot C, Rocaribas F, Bielsa I, Lazaro Garcia C, de Cid R, Serra E, Blanco I, Castellanos E; NF2 Spanish National Reference Centre HUGTP-ICO-IGTP. Catasús N, et al. Among authors: bielsa i. J Med Genet. 2022 Jul;59(7):678-686. doi: 10.1136/jmedgenet-2020-107548. Epub 2021 Aug 4. J Med Genet. 2022. PMID: 34348961
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?
Garcia B, Catasus N, Ros A, Rosas I, Negro A, Guerrero-Murillo M, Valero AM, Duat-Rodriguez A, Becerra JL, Bonache S, Lázaro Garcia C, Comas C, Bielsa I, Serra E, Hernández-Chico C, Martin Y, Castellanos E, Blanco I. Garcia B, et al. Among authors: bielsa i. J Med Genet. 2022 Oct;59(10):1017-1023. doi: 10.1136/jmedgenet-2021-108301. Epub 2022 Feb 4. J Med Genet. 2022. PMID: 35121649
Skin lesions in neurofibromatosis type 2: diagnostic and prognostic significance of cutaneous (plexiform) schwannomas.
Plana-Pla A, García B, Munera-Campos M, Catasus N, Serra Arenas E, Blanco I, Castellanos Perez E, Bielsa I; NF2 Multidisciplinary Clinics HUGTiP-ICO-IGTP. Plana-Pla A, et al. Among authors: bielsa i. J Eur Acad Dermatol Venereol. 2022 Sep;36(9):1632-1640. doi: 10.1111/jdv.18190. Epub 2022 May 21. J Eur Acad Dermatol Venereol. 2022. PMID: 35490384 Free PMC article.
White hyperkeratotic plaque in a patient with infantile spasms.
Mora-Fernández V, Plana-Pla A, Quer A, Blanco I, Bielsa I. Mora-Fernández V, et al. Among authors: bielsa i. Pediatr Dermatol. 2022 Nov;39(6):973-975. doi: 10.1111/pde.15104. Pediatr Dermatol. 2022. PMID: 36441000 No abstract available.
Hereditary hypotrichosis simplex.
Just M, Ribera M, Fuente MJ, Bielsa I, Ferrándiz C. Just M, et al. Among authors: bielsa i. Dermatology. 1998;196(3):339-42. doi: 10.1159/000017909. Dermatology. 1998. PMID: 9621144 Review.
A case of multiple keratoacanthoma centrifugum marginatum.
Mangas C, Bielsa I, Ribera M, Fernández-Figueras MT, Ferrándiz C. Mangas C, et al. Among authors: bielsa i. Dermatol Surg. 2004 May;30(5):803-6. doi: 10.1111/j.1524-4725.2004.30225.x. Dermatol Surg. 2004. PMID: 15099330
84 results