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Year Number of Results
1966 1
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1999 2
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24 results

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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
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Castroviejo IP, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG. Lee JE, et al. Among authors: castroviejo ip. Nat Genet. 2012 Jan 15;44(2):193-9. doi: 10.1038/ng.1078. Nat Genet. 2012. PMID: 22246503 Free PMC article.
Childhood absence epilepsy evolving to juvenile myoclonic epilepsy: electroclinical and genetic features.
Medina MT, Durón RM, Alonso ME, Dravet C, León L, López-Ruiz M, Ramos-Ramírez R, Castroviejo IP, Weissbecker K, Westling B, Perez-Gosiengfiao KT, Khan S, Pineda G, Morita R, Rasmussen A, Peek JR, Cordova S, Martínez-Juárez IE, Rubio-Donnadieu F, Ochoa-Morales A, Jara-Prado A, Bailey JN, Tanaka M, Bai D, Machado-Salas J, Delgado-Escueta AV. Medina MT, et al. Among authors: castroviejo ip. Adv Neurol. 2005;95:197-215. Adv Neurol. 2005. PMID: 15508924 No abstract available.
Familial juvenile myoclonic epilepsy.
Alonso ME, Medina MT, Martínez-Juárez IE, Durón RM, Bailey JN, López-Ruiz M, Ramos-Ramírez R, Ochoa-Morales A, Jara-Prado A, Rasmussen-Almarez A, León L, Pineda G, Castroviejo IP, Khan S, Silva R, Mija L, Portilla L, Bai D, Perez-Gosiengfiao KT, Machado-Salas J, Delgado-Escueta AV. Alonso ME, et al. Among authors: castroviejo ip. Adv Neurol. 2005;95:227-43. Adv Neurol. 2005. PMID: 15508926 No abstract available.
Spondylo-thoracic dysplasia in three sisters.
Castroviejo IP, Rodriguez-Costa T, Castillo F. Castroviejo IP, et al. Dev Med Child Neurol. 1973 Jun;15(3):348-54. doi: 10.1111/j.1469-8749.1973.tb04891.x. Dev Med Child Neurol. 1973. PMID: 4718686 No abstract available.
Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24.
Fong GC, Shah PU, Gee MN, Serratosa JM, Castroviejo IP, Khan S, Ravat SH, Mani J, Huang Y, Zhao HZ, Medina MT, Treiman LJ, Pineda G, Delgado-Escueta AV. Fong GC, et al. Among authors: castroviejo ip. Am J Hum Genet. 1998 Oct;63(4):1117-29. doi: 10.1086/302066. Am J Hum Genet. 1998. PMID: 9758624 Free PMC article.
Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up.
Martínez-Juárez IE, Alonso ME, Medina MT, Durón RM, Bailey JN, López-Ruiz M, Ramos-Ramírez R, León L, Pineda G, Castroviejo IP, Silva R, Mija L, Perez-Gosiengfiao K, Machado-Salas J, Delgado-Escueta AV. Martínez-Juárez IE, et al. Among authors: castroviejo ip. Brain. 2006 May;129(Pt 5):1269-80. doi: 10.1093/brain/awl048. Epub 2006 Mar 6. Brain. 2006. PMID: 16520331
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
24 results