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 Custom Filters

Results by year

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

Year Number of Results
1994 1
1995 1
2005 3
2008 1
2009 1
2010 3
2011 3
2019 1
2020 1
2023 1
2024 2

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

14 results

Results by year

Filters applied: . Clear all
Page 1
Identification of copy-number variants in patients with overgrowth disorders.
Parra A, Tenorio-Castano J, Nevado J, Cazalla M, Miranda-Alcaraz L, Gallego-Zazo N, Silván C, Arias P, Pozo-Román J, Ballesta-Martínez MJ, Guillén-Navarro E, Arroyo I, Lotersztein V, Cosentino V, González-Meneses A, Galán E, Rosell J, Ramos F; Spanish OverGrowth Registry Initiative; Lapunzina P. Parra A, et al. Clin Genet. 2024 Nov;106(5):614-624. doi: 10.1111/cge.14596. Epub 2024 Aug 1. Clin Genet. 2024. PMID: 39091142
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D. Dauwerse JG, et al. Among authors: toral jf. Nat Genet. 2011 Jan;43(1):20-2. doi: 10.1038/ng.724. Epub 2010 Dec 5. Nat Genet. 2011. PMID: 21131976
A novel mutation in the FERMT1 gene in a Spanish family with Kindler's syndrome.
Mas-Vidal A, Miñones-Suárez L, Toral JF, Mallo S, Pérez-Oliva N. Mas-Vidal A, et al. Among authors: toral jf. J Eur Acad Dermatol Venereol. 2010 Aug;24(8):978-9. doi: 10.1111/j.1468-3083.2009.03554.x. Epub 2009 Dec 17. J Eur Acad Dermatol Venereol. 2010. PMID: 20028441 No abstract available.
[Ehlers-Danlos syndrome type I: importance of genetic diagnosis].
Prieto CL, Rivas IL, Toral JF, Barrajón PM. Prieto CL, et al. Among authors: toral jf. An Pediatr (Barc). 2010 Feb;72(2):157-9. doi: 10.1016/j.anpedi.2009.11.013. Epub 2010 Jan 29. An Pediatr (Barc). 2010. PMID: 20116353 Free article. Spanish. No abstract available.
14 results