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

Text availability

Article attribute

Article type

Publication date

Search Results

62 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P, Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A; DDD Study; van Heyningen V, Marsh JA, Elmslie F, FitzPatrick DR. McEntagart M, et al. Am J Hum Genet. 2016 May 5;98(5):981-992. doi: 10.1016/j.ajhg.2016.03.018. Epub 2016 Apr 21. Am J Hum Genet. 2016. PMID: 27108798 Free PMC article.
Musicogenic seizures in Dravet syndrome.
Sanchez-Carpintero R, Patiño-Garcia A, Urrestarazu E. Sanchez-Carpintero R, et al. Dev Med Child Neurol. 2013 Jul;55(7):668-70. doi: 10.1111/dmcn.12138. Epub 2013 Mar 20. Dev Med Child Neurol. 2013. PMID: 23517304 Free article.
[Febrile seizures in the first year of life: Dravet spectrum epilepsy?].
Sánchez-Carpintero R, Núñez MT, Aznárez N, Narbona García J. Sánchez-Carpintero R, et al. An Pediatr (Barc). 2012 Apr;76(4):218-23. doi: 10.1016/j.anpedi.2011.10.001. Epub 2011 Nov 21. An Pediatr (Barc). 2012. PMID: 22104018 Free article. Spanish.
Dilated vein of Galen in Kabuki syndrome.
Sánchez-Carpintero R, Herranz A, Reynoso C, Zubieta JL. Sánchez-Carpintero R, et al. Brain Dev. 2012 Jan;34(1):76-9. doi: 10.1016/j.braindev.2011.01.008. Epub 2011 Feb 16. Brain Dev. 2012. PMID: 21330077
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.
Daoud H, Tétreault M, Gibson W, Guerrero K, Cohen A, Gburek-Augustat J, Synofzik M, Brais B, Stevens CA, Sanchez-Carpintero R, Goizet C, Naidu S, Vanderver A, Bernard G. Daoud H, et al. J Med Genet. 2013 Mar;50(3):194-7. doi: 10.1136/jmedgenet-2012-101357. Epub 2013 Jan 25. J Med Genet. 2013. PMID: 23355746
62 results