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

Year Number of Results
1995 1
2005 1
2006 3
2007 5
2008 5
2009 3
2010 2
2011 2
2013 6
2014 4
2015 2
2017 1
2019 2
2020 1
2021 1
2023 1
2024 1

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35 results

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Page 1
Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis.
Goel N, Morris JK, Tucker D, de Walle HEK, Bakker MK, Kancherla V, Marengo L, Canfield MA, Kallen K, Lelong N, Camelo JL, Stallings EB, Jones AM, Nance A, Huynh MP, Martínez-Fernández ML, Sipek A, Pierini A, Nembhard WN, Goetz D, Rissmann A, Groisman B, Luna-Muñoz L, Szabova E, Lapchenko S, Zarante I, Hurtado-Villa P, Martinez LE, Tagliabue G, Landau D, Gatt M, Dastgiri S, Morgan M. Goel N, et al. Among authors: martinez fernandez ml. Am J Med Genet A. 2019 Dec;179(12):2382-2392. doi: 10.1002/ajmg.a.61365. Epub 2019 Sep 30. Am J Med Genet A. 2019. PMID: 31566869 Free PMC article.
[Miller-Dieker syndrome].
Iglesias Escalera G, Carrasco Marina ML, Martín Del Valle F, Martínez Guardia N, Rodríguez L, Martínez-Fernández ML. Iglesias Escalera G, et al. Among authors: martinez fernandez ml. An Pediatr (Barc). 2009 Mar;70(3):304-6. doi: 10.1016/j.anpedi.2008.11.003. Epub 2009 Feb 7. An Pediatr (Barc). 2009. PMID: 19409251 Free article. Spanish. No abstract available.
Subtelomeric deletion of 12p: Description of a third case and review.
Macdonald AH, Rodríguez L, Aceña I, Martínez-Fernández ML, Sánchez-Izquierdo D, Zuazo E, Martínez-Frías ML. Macdonald AH, et al. Among authors: martinez fernandez ml. Am J Med Genet A. 2010 Jun;152A(6):1561-6. doi: 10.1002/ajmg.a.33401. Am J Med Genet A. 2010. PMID: 20503336 Review.
Interstitial deletion 14q22.3-q23.2: genotype-phenotype correlation.
Martínez-Frías ML, Ocejo-Vinyals JG, Arteaga R, Martínez-Fernández ML, Macdonald A, Pérez-Belmonte E, Bermejo-Sánchez E, Martínez S. Martínez-Frías ML, et al. Among authors: martinez fernandez ml. Am J Med Genet A. 2014 Mar;164A(3):639-47. doi: 10.1002/ajmg.a.36330. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357464
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: martinez fernandez ml. Front Genet. 2021 Jul 30;12:645595. doi: 10.3389/fgene.2021.645595. eCollection 2021. Front Genet. 2021. PMID: 34394178 Free PMC article.
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
Palencia-Campos A, Martínez-Fernández ML, Altunoglu U, Soto-Bielicka P, Torres A, Marín P, Aller E, Şentürk L, Berköz Ö, Yıldıran M, Kayserili H, Gil-Camarero E, Colli-Lista G, Sanchís-Calvo A, Carretero A; ECEMC Working Group on Polydactyly; Guillén-Navarro E, López-González V, Ballesta-Martínez M, Rosell J, Aglan MS, Temtamy S, Otaify GA, Cuevas-Catalina L, Torres-Saavedra MN, Nevado J, Tenorio J, Lapunzina P, Bermejo-Sánchez E, Ruiz-Pérez VL. Palencia-Campos A, et al. Among authors: martinez fernandez ml. Hum Mutat. 2020 Jan;41(1):265-276. doi: 10.1002/humu.23921. Epub 2019 Nov 6. Hum Mutat. 2020. PMID: 31549748
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. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
35 results