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

87 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 SCN4A mutation causing paramyotonia congenita.
Palma C, Prior C, Gómez-González C, Rodríguez-Antolin C, Martínez-Montero P, Pérez de Ayala L, Pascual SI, Molano Mateos J. Palma C, et al. Neuromuscul Disord. 2017 Dec;27(12):1123-1125. doi: 10.1016/j.nmd.2017.09.008. Epub 2017 Sep 25. Neuromuscul Disord. 2017. PMID: 29111379
A novel PLP1 deletion causing classic Pelizaeus-Merzbacher disease.
Prior C, Muñoz-Calero M, Gómez-Gonzalez C, Martinez-Montero P, Barrio L, Poo P, Martorell L, Molano J. Prior C, et al. J Neurol Sci. 2019 Feb 15;397:135-137. doi: 10.1016/j.jns.2018.12.031. Epub 2018 Dec 23. J Neurol Sci. 2019. PMID: 30616056 No abstract available.
Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele.
Gómez-González C, Rosas-Alonso R, Rodríguez-Antolín C, García-Guede A, Ibáñez de Caceres I, Sanguino J, Pascual SI, Esteban I, Pozo AD, Mori MÁ, Torres RJ, Prior C. Gómez-González C, et al. Eur J Med Genet. 2021 Apr;64(4):104170. doi: 10.1016/j.ejmg.2021.104170. Epub 2021 Feb 19. Eur J Med Genet. 2021. PMID: 33618039
Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene.
Gómez-González C, Pizarro-Sánchez C, Rodríguez-Antolín C, Pascual-Pascual I, Garcia-Romero M, Rodriguez-Jiménez C, de Sancho-Martín R, Del Pozo-Mate Á, Solís-López M, Prior-de Castro C, Torres RJ. Gómez-González C, et al. Ann Hum Genet. 2022 May;86(3):109-118. doi: 10.1111/ahg.12455. Epub 2021 Dec 20. Ann Hum Genet. 2022. PMID: 34927723
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Calame DG, Moreno Vadillo C, Berger S, Lotze T, Shinawi M, Poupak J, Heller C, Cohen J, Person R, Telegrafi A, Phitsanuwong C, Fiala K, Thiffault I, Del Viso F, Zhou D, Fleming EA, Pastinen T, Fatemi A, Thomas S, Pascual SI, Torres RJ, Prior C, Gómez-González C, Biskup S, Lupski JR, Maric D, Holmgren M, Regier D, Yano ST. Calame DG, et al. Among authors: gomez gonzalez c. Brain. 2023 Aug 1;146(8):3162-3171. doi: 10.1093/brain/awad124. Brain. 2023. PMID: 37043503 Free PMC article.
Molecular diagnosis of cystic fibrosis by RNA obtained from nasal epithelial cells.
Prior-de Castro C, Martínez Gallego MÁ, Gómez-González C, de Sancho Martín R, Rodríguez-Antolín C, Rodríguez-Jiménez C, Del Pozo Mate Á, Zamarrón de Lucas E, Ruiz de Valbuena Maiz M, de Manuel Gómez C, Alcolea Batres S, Prados Sánchez MC, J Torres R. Prior-de Castro C, et al. Among authors: gomez gonzalez c. J Cyst Fibros. 2023 Dec 26:S1569-1993(23)01729-0. doi: 10.1016/j.jcf.2023.12.007. Online ahead of print. J Cyst Fibros. 2023. PMID: 38151412
Prenatal genetic diagnosis of monogenic diseases.
Prior-de Castro C, Gómez-González C, Rodríguez-López R, Macher HC; Prenatal Diagnosis Commission and the Genetics Commission of the Spanish Society of Laboratory Medicine. Prior-de Castro C, et al. Among authors: gomez gonzalez c. Adv Lab Med. 2023 Mar 24;4(1):28-51. doi: 10.1515/almed-2023-0024. eCollection 2023 Apr. Adv Lab Med. 2023. PMID: 37359899 Free PMC article.
Sudden cardiac death triggered by minimal alcohol consumption in the context of novel PPA2 mutations in 2 unrelated families.
Gómez González C, Del Campo Cano I, Isabel Fernández-Avila A, Paz Suárez-Mier M, José Sagastizábal M, Álvarez García-Rovés R, Méndez Fernández I, Vilches S, Centeno Jiménez M, Siles Sánchez-Manjavacas A, Usano Carrasco A, Gonzalez-Vioque E, Pablo Ochoa J, Medrano C, González López E, García-Pavía P, Bermejo J, Angeles Espinosa Castro M. Gómez González C, et al. Gene. 2024 Jul 20;916:148437. doi: 10.1016/j.gene.2024.148437. Epub 2024 Apr 4. Gene. 2024. PMID: 38582264 Free article.
87 results