Zobrazeno 1 - 6
of 6
pro vyhledávání: '"López-Aríztegui MA"'
Autor:
Maortua Hiart, Martínez-Bouzas Cristina, Calvo María-Teresa, Domingo Maria-Rosario, Ramos Feliciano, García-Ribes Ainhoa, Martínez María-Jesús, López-Aríztegui María-Asunción, Puente Nerea, Rubio Izaskun, Tejada María-Isabel
Publikováno v:
BMC Medical Genetics, Vol 13, Iss 1, p 68 (2012)
Abstract Background Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) located in the Xp22 region have been shown to cause a subset of atypical Rett syndrome with infantile spasms or early seizures starting in the first postnatal months. Me
Externí odkaz:
https://doaj.org/article/8a203ac78bec4b4eb39f1f7c44d66490
Autor:
Merino S; Molecular Genetics Laboratory, Genetics Service, BioCruces Health Research Institute, Cruces University Hospital, 48903-Barakaldo-Bizkaia, Spain. s.merino.fernandez@osakidetza.eus., Ibarluzea N; Molecular Genetics Laboratory, Genetics Service, BioCruces Health Research Institute, Cruces University Hospital, 48903-Barakaldo-Bizkaia, Spain. nekane.ibarluzeaguenaga@osakidetza.eus., Maortua H; Molecular Genetics Laboratory, Genetics Service, BioCruces Health Research Institute, Cruces University Hospital, 48903-Barakaldo-Bizkaia, Spain. hiart.maortuaolabe@osakidetza.eus.; Clinical Group Affiliated with the Centre for Biomedical Research on Rare Diseases (CIBERER), 46010-Valencia, Spain. hiart.maortuaolabe@osakidetza.eus., Prieto B; Human Reproduction Unit, Obstetrics and Gynecology Department, BioCruces Health Research Institute, Cruces University Hospital, 48903-Barakaldo-Bizkaia, Spain. mariabegona.prietomolano@osakidetza.eus., Rouco I; Ataxias and Spastic Paraplegias Unit, Neurology Department, BioCruces Health Research Institute, Cruces University Hospital, 48903-Barakaldo-Bizkaia, Spain. idoia.roucoaxpe@osakidetza.eus., López-Aríztegui MA; Clinical Group Affiliated with the Centre for Biomedical Research on Rare Diseases (CIBERER), 46010-Valencia, Spain. malopezariztegui@yahoo.es.; Genetics Counseling, Genetics Service, BioCruces Health Research Institute, Cruces University Hospital, 48903-Barakaldo-Bizkaia, Spain. malopezariztegui@yahoo.es., Tejada MI; Molecular Genetics Laboratory, Genetics Service, BioCruces Health Research Institute, Cruces University Hospital, 48903-Barakaldo-Bizkaia, Spain. mariaisabel.tejadaminguez@osakidetza.eus.; Clinical Group Affiliated with the Centre for Biomedical Research on Rare Diseases (CIBERER), 46010-Valencia, Spain. mariaisabel.tejadaminguez@osakidetza.eus.
Publikováno v:
Genes [Genes (Basel)] 2016 Oct 21; Vol. 7 (10). Date of Electronic Publication: 2016 Oct 21.
Autor:
Lafuente-Hidalgo M; Unidad de Neuropediatría, Servicio de Pediatría, BioCruces Health Research Institute, Hospital Universitario de Cruces, Baracaldo, Vizcaya, España. Electronic address: miguel.lafuentehidalgo@osakidetza.net., García Besteiro M; Servicio de Pediatría, BioCruces Health Research Institute, Hospital Universitario de Cruces, Baracaldo, Vizcaya, España., Acedo Alonso Y; Servicio de Pediatría, BioCruces Health Research Institute, Hospital Universitario de Cruces, Baracaldo, Vizcaya, España., López Aríztegui MA; Servicio de Genética, BioCruces Health Research Institute, Hospital Universitario de Cruces, Baracaldo, Vizcaya, España., Navajas Gutierrez A; Unidad de Hemato-Oncología Pediátricas, Servicio de Pediatría, BioCruces Health Research Institute, Hospital Universitario de Cruces, Baracaldo, Vizcaya, España.
Publikováno v:
Anales de pediatria (Barcelona, Spain : 2003) [An Pediatr (Barc)] 2014 Dec; Vol. 81 (6), pp. e52-4. Date of Electronic Publication: 2014 May 27.
Autor:
Plaja A; Citogenética, General Lab-Laboratoris d'Anàlisis, Barcelona, Spain., Lloveras E, Martinez-Bouzas C, Barreña B, Del Campo M, Fernández A, Herrero M, Barranco L, Palau N, López-Aríztegui MA, Català V, Tejada MI
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2013 Sep; Vol. 161A (9), pp. 2363-8. Date of Electronic Publication: 2013 Jul 25.
Autor:
Maortua H; Molecular Genetics Laboratory, Genetics Service, BioCruces Health Research Institute, Cruces University Hospital, Barakaldo-Bizkaia, Spain., Martínez-Bouzas C, García-Ribes A, Martínez MJ, Guillen E, Domingo MR, Calvo MT, Guitart M, Gabau E, Botella MP, Gener B, Rubio I, López-Aríztegui MA, Tejada MI
Publikováno v:
The Journal of molecular diagnostics : JMD [J Mol Diagn] 2013 Sep; Vol. 15 (5), pp. 723-9. Date of Electronic Publication: 2013 Jun 26.
Autor:
Tejada MI; Molecular Genetics Laboratory, Department of Biochemistry, Cruces Hospital, 48903 Barakaldo, Bizkaia, Spain. mariaisabel.tejadaminguez@osakidetza.net, Martínez-Bouzas C, García-Ribes A, Larrucea S, Acquadro F, Cigudosa JC, Belet S, Froyen G, López-Aríztegui MA
Publikováno v:
Pediatrics [Pediatrics] 2011 Oct; Vol. 128 (4), pp. e1029-33. Date of Electronic Publication: 2011 Sep 19.