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Page 1
Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.
Sandoval-Talamantes AK, Mori MÁ, Santos-Simarro F, García-Miñaur S, Mansilla E, Tenorio JA, Peña C, Adan C, Fernández-Elvira M, Rueda I, Lapunzina P, Nevado J. Sandoval-Talamantes AK, et al. Among authors: mansilla e. Genes (Basel). 2023 Mar 29;14(4):820. doi: 10.3390/genes14040820. Genes (Basel). 2023. PMID: 37107578 Free PMC article.
Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples.
Vallespín E, Palomares Bralo M, Mori MÁ, Martín R, García-Miñaúr S, Fernández L, de Torres ML, García-Santiago F, Mansilla E, Santos F, M-Montaño VE, Crespo MC, Martín S, Martínez-Glez V, Delicado A, Lapunzina P, Nevado J. Vallespín E, et al. Among authors: mansilla e. Am J Med Genet A. 2013 Aug;161A(8):1950-60. doi: 10.1002/ajmg.a.35960. Epub 2013 Jun 24. Am J Med Genet A. 2013. PMID: 23798500
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. Among authors: mansilla e. 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. Among authors: mansilla e. Front Genet. 2022 Apr 12;13:652454. doi: 10.3389/fgene.2022.652454. eCollection 2022. Front Genet. 2022. PMID: 35495150 Free PMC article.
Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization.
García-Santiago FA, Martínez-Glez V, Santos F, García-Miñaur S, Mansilla E, Meneses AG, Rosell J, Granero ÁP, Vallespín E, Fernández L, Sierra B, Oliver-Bonet M, Palomares M, de Torres ML, Mori MÁ, Nevado J, Heath KE, Delicado A, Lapunzina P. García-Santiago FA, et al. Among authors: mansilla e. Am J Med Genet A. 2015 May;167A(5):1018-25. doi: 10.1002/ajmg.a.36879. Epub 2015 Feb 25. Am J Med Genet A. 2015. PMID: 25712135
Prenatal diagnosis of fetal skeletal dysplasias in a tertiary Hospital in Spain.
Illescas T, Mansilla E, Herrero B, Rodríguez R, López F, Aza-Carmona M, Regojo RM, Santos-Simarro F, Heath KE, Bartha JL, Antolín E. Illescas T, et al. Among authors: mansilla e. Eur J Obstet Gynecol Reprod Biol. 2020 Jul;250:209-215. doi: 10.1016/j.ejogrb.2020.05.009. Epub 2020 May 19. Eur J Obstet Gynecol Reprod Biol. 2020. PMID: 32470698
Prenatal ultrasound findings in Koolen-de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome.
García-Santiago FA, Martínez-Payo C, Mansilla E, Santos-Simarro F, Ruiz de Azua Ballesteros M, Mori MÁ, Antolín Alvarado E, Nieto Y, Vallcorba I, Tenorio J, Nevado J, Lapunzina P. García-Santiago FA, et al. Among authors: mansilla e. Mol Genet Genomic Med. 2021 May;9(5):e1649. doi: 10.1002/mgg3.1649. Epub 2021 Mar 18. Mol Genet Genomic Med. 2021. PMID: 33733630 Free PMC article.
New microdeletion and microduplication syndromes: A comprehensive review.
Nevado J, Mergener R, Palomares-Bralo M, Souza KR, Vallespín E, Mena R, Martínez-Glez V, Mori MÁ, Santos F, García-Miñaur S, García-Santiago F, Mansilla E, Fernández L, de Torres ML, Riegel M, Lapunzina P. Nevado J, et al. Among authors: mansilla e. Genet Mol Biol. 2014 Mar;37(1 Suppl):210-9. doi: 10.1590/s1415-47572014000200007. Genet Mol Biol. 2014. PMID: 24764755 Free PMC article. Review.
A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. Tenorio J, et al. Among authors: mansilla a, mansilla e. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
82 results