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Page 1
New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy.
Bravo García-Morato M, Aracil Santos FJ, Briones AC, Blázquez Moreno A, Del Pozo Maté Á, Domínguez-Soto Á, Beato Merino MJ, Del Pino Molina L, Torres Canizales J, Marin AV, Vallespín García E, Feito Rodríguez M, Plaza López Sabando D, Jiménez-Reinoso A, Mozo Del Castillo Y, Sanz Santaeufemia FJ, de Lucas-Laguna R, Cárdenas PP, Casamayor Polo L, Coronel Díaz M, Valés-Gómez M, Roldán Santiago E, Ferreira Cerdán A, Nevado Blanco J, Corbí ÁL, Reyburn HT, Regueiro JR, López-Granados E, Rodríguez Pena R. Bravo García-Morato M, et al. Among authors: nevado blanco j. J Allergy Clin Immunol. 2018 May;141(5):1924-1927.e18. doi: 10.1016/j.jaci.2017.12.995. Epub 2018 Mar 2. J Allergy Clin Immunol. 2018. PMID: 29408330 No abstract available.
[Clinical phenotype of a patient with FOXP1 deletion].
Blanco Sánchez T, Duat Rodríguez A, Cantarín Extremera V, Lapunzina P, Palomares Bralo M, Nevado Blanco J. Blanco Sánchez T, et al. Among authors: nevado blanco j. An Pediatr (Barc). 2015 Apr;82(4):280-1. doi: 10.1016/j.anpedi.2014.06.007. Epub 2014 Jul 16. An Pediatr (Barc). 2015. PMID: 25037997 Free article. Spanish. No abstract available.
[Wolf-Hirschhorn syndrome. Description of a Spanish cohort of 51 cases and a literature review].
Blanco-Lago R, Malaga-Dieguez I, Granizo-Martinez JJ, Carrera-Garcia L, Barruz-Galian P, Lapunzina P, Nevado-Blanco J, En Representacion Del Grupo Colaborativo Para El Estudio Del Sindrome de Wolf-Hirschhorn ERDGCPEEDSW. Blanco-Lago R, et al. Among authors: nevado blanco j. Rev Neurol. 2017 May 1;64(9):393-400. Rev Neurol. 2017. PMID: 28444681 Free article. Review. Spanish.
[Wolf-Hirschhorn syndrome. Description of five cases characterized by means of single nucleotide polymorphism microarrays].
Cammarata-Scalisi F, Blanco Lago R, Barruz Galián P, Lapunzina Badía P, Araque D, Da Silva G, Lacruz-Rengel MA, Avendaño A, Nevado Blanco J. Cammarata-Scalisi F, et al. Among authors: nevado blanco j. Arch Argent Pediatr. 2019 Aug 1;117(4):e406-e412. doi: 10.5546/aap.2019.e406. Arch Argent Pediatr. 2019. PMID: 31339285 Free article. Spanish.
[Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis].
Braslavsky D, Scaglia P, Sanguineti N, Aza-Carmona M, Nevado Blanco J, Lapunzina Badia PD, Fernández MDC, Ruiz O, Carmona A, Szlago M, Arberas C, Cassinelli H, Heath K, Rey R, Bergadá I. Braslavsky D, et al. Among authors: nevado blanco j. Arch Argent Pediatr. 2020 Jun;118(3):e300-e304. doi: 10.5546/aap.2020.e300. Arch Argent Pediatr. 2020. PMID: 32470270 Free article. Spanish.
[Prevalence and geographic distribution of the Wolf-Hirschhorn syndrome in Spain.].
Blanco Lago R, da Silva Mori X, Cristina BF, Málaga Diéguez I, Mori Álvarez MLÁ, Graña Barreiro N, Lapunzina Badía P, Nevado Blanco J. Blanco Lago R, et al. Among authors: nevado blanco j. Rev Esp Salud Publica. 2022 Jun 8;96:e202206045. Rev Esp Salud Publica. 2022. PMID: 35703131 Free article. Spanish.
A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.
Keselman AC, Martin A, Scaglia PA, Sanguineti NM, Armando R, Gutiérrez M, Braslavsky D, Ballerini MG, Ropelato MG, Ramirez L, Landi E, Domené S, Castro JF, Cassinelli H, Casali B, Del Rey G, Barros ÁC, Nevado Blanco J, Domené H, Jasper H, Arberas C, Rey RA, Lapunzina-Badía P, Bergadá I, Pennisi PA. Keselman AC, et al. Among authors: nevado blanco j. Eur J Endocrinol. 2019 Nov;181(5):K43-K53. doi: 10.1530/EJE-19-0563. Eur J Endocrinol. 2019. PMID: 31539878