Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 2
2006 2
2007 2
2008 2
2009 1
2011 1
2012 2
2013 1
2014 3
2015 1
2020 1
2021 4
2022 2
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

24 results

Results by year

Filters applied: . Clear all
Page 1
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
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.
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.
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.
Santos-Simarro F, Pacio M, Cueto-González AM, Mansilla E, Valenzuela-Palafoll MI, López-Grondona F, Lledín MD, Schuffelmann C, Del Pozo Á, Solis M, Vallcorba P, Lapunzina P, Menéndez Suso JJ, Siccha SM, Montejo JM, Mena R, Jiménez-Rodríguez C, García-Miñaúr S, Palomares-Bralo M. Santos-Simarro F, et al. Among authors: mansilla e. Eur J Med Genet. 2021 Nov;64(11):104338. doi: 10.1016/j.ejmg.2021.104338. Epub 2021 Sep 7. Eur J Med Genet. 2021. PMID: 34500087 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 e. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
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.
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
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.
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
Letter by Romero-Jiménez et al Regarding Article, "Familial Hypercholesterolemia-Risk-Score: A New Score Predicting Cardiovascular Events and Cardiovascular Mortality in Familial Hypercholesterolemia".
Romero-Jiménez MJ, Castaño MÁ, Mansilla ME, Mata P. Romero-Jiménez MJ, et al. Among authors: mansilla me. Arterioscler Thromb Vasc Biol. 2021 Dec;41(12):e524-e525. doi: 10.1161/ATVBAHA.121.317034. Epub 2021 Nov 23. Arterioscler Thromb Vasc Biol. 2021. PMID: 34813346 No abstract available.
24 results