These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

408 related articles for article (PubMed ID: 33047306)

  • 1. Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.
    MacKay CI; Wong K; Demarest ST; Benke TA; Downs J; Leonard H
    Clin Genet; 2021 Jan; 99(1):157-165. PubMed ID: 33047306
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?
    MacKay CI; Bick D; Prokop JW; Muñoz I; Rouse J; Downs J; Leonard H
    Am J Med Genet A; 2020 May; 182(5):1217-1222. PubMed ID: 32034940
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy.
    Bernardo P; Ferretti A; Terrone G; Santoro C; Bravaccio C; Striano S; Coppola A; Striano P
    Epileptic Disord; 2019 Jun; 21(3):271-277. PubMed ID: 31225800
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder.
    Fehr S; Wong K; Chin R; Williams S; de Klerk N; Forbes D; Krishnaraj R; Christodoulou J; Downs J; Leonard H
    Neurology; 2016 Nov; 87(21):2206-2213. PubMed ID: 27770071
    [TBL] [Abstract][Full Text] [Related]  

  • 5. CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development.
    Demarest ST; Olson HE; Moss A; Pestana-Knight E; Zhang X; Parikh S; Swanson LC; Riley KD; Bazin GA; Angione K; Niestroj LM; Lal D; Juarez-Colunga E; Benke TA
    Epilepsia; 2019 Aug; 60(8):1733-1742. PubMed ID: 31313283
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.
    Zhao Y; Zhang X; Bao X; Zhang Q; Zhang J; Cao G; Zhang J; Li J; Wei L; Pan H; Wu X
    BMC Med Genet; 2014 Feb; 15():24. PubMed ID: 24564546
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Functional abilities in children and adults with the CDKL5 disorder.
    Fehr S; Downs J; Ho G; de Klerk N; Forbes D; Christodoulou J; Williams S; Leonard H
    Am J Med Genet A; 2016 Nov; 170(11):2860-2869. PubMed ID: 27528505
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
    Bahi-Buisson N; Villeneuve N; Caietta E; Jacquette A; Maurey H; Matthijs G; Van Esch H; Delahaye A; Moncla A; Milh M; Zufferey F; Diebold B; Bienvenu T
    Am J Med Genet A; 2012 Jul; 158A(7):1612-9. PubMed ID: 22678952
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants.
    Kobayashi Y; Tohyama J; Takahashi Y; Goto T; Haginoya K; Inoue T; Kubota M; Fujita H; Honda R; Ito M; Kishimoto K; Nakamura K; Sakai Y; Takanashi JI; Tanaka M; Tanda K; Tominaga K; Yoshioka S; Kato M; Nakashima M; Saitsu H; Matsumoto N
    Brain Dev; 2021 Apr; 43(4):505-514. PubMed ID: 33436160
    [TBL] [Abstract][Full Text] [Related]  

  • 10. CDKL5 deficiency disorder in males: Five new variants and review of the literature.
    Siri B; Varesio C; Freri E; Darra F; Gana S; Mei D; Porta F; Fontana E; Galati G; Solazzi R; Niceta M; Veggiotti P; Alfei E
    Eur J Paediatr Neurol; 2021 Jul; 33():9-20. PubMed ID: 33989939
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular and Synaptic Bases of CDKL5 Disorder.
    Zhu YC; Xiong ZQ
    Dev Neurobiol; 2019 Jan; 79(1):8-19. PubMed ID: 30246934
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Key clinical features to identify girls with CDKL5 mutations.
    Bahi-Buisson N; Nectoux J; Rosas-Vargas H; Milh M; Boddaert N; Girard B; Cances C; Ville D; Afenjar A; Rio M; Héron D; N'guyen Morel MA; Arzimanoglou A; Philippe C; Jonveaux P; Chelly J; Bienvenu T
    Brain; 2008 Oct; 131(Pt 10):2647-61. PubMed ID: 18790821
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.
    Neupauerová J; Štěrbová K; Vlčková M; Sebroňová V; Maříková T; Krůtová M; David S; Kršek P; Žaliová M; Seeman P; Laššuthová P
    Genet Test Mol Biomarkers; 2017 Oct; 21(10):613-618. PubMed ID: 28872899
    [TBL] [Abstract][Full Text] [Related]  

  • 14. First report of Tunisian patients with CDKL5-related encephalopathy.
    Charfi Triki C; Zouari Mallouli S; Ben Jdila M; Ben Said M; Kamoun Feki F; Weckhuysen S; Masmoudi S; Fakhfakh F
    Epilepsia Open; 2024 Jun; 9(3):906-917. PubMed ID: 37701975
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder.
    Tangarorang J; Leonard H; Epstein A; Downs J
    Am J Med Genet A; 2019 Feb; 179(2):249-256. PubMed ID: 30561084
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Aged heterozygous Cdkl5 mutant mice exhibit spontaneous epileptic spasms.
    Mulcahey PJ; Tang S; Takano H; White A; Davila Portillo DR; Kane OM; Marsh ED; Zhou Z; Coulter DA
    Exp Neurol; 2020 Oct; 332():113388. PubMed ID: 32585155
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.
    Kluckova D; Kolnikova M; Medova V; Bognar C; Foltan T; Svecova L; Gnip A; Kadasi L; Soltysova A; Ficek A
    Epilepsy Res; 2021 Oct; 176():106699. PubMed ID: 34229227
    [TBL] [Abstract][Full Text] [Related]  

  • 18. CDKL5 deficiency disorder: At the intersection between Rett syndrome and developmental epileptic encephalopathies.
    Kaufmann WE
    Dev Med Child Neurol; 2024 Apr; 66(4):410-411. PubMed ID: 37881024
    [No Abstract]   [Full Text] [Related]  

  • 19. Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder.
    Leonard H; Junaid M; Wong K; Demarest S; Downs J
    Epilepsy Res; 2021 Jan; 169():106521. PubMed ID: 33341033
    [TBL] [Abstract][Full Text] [Related]  

  • 20. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.
    Archer HL; Evans J; Edwards S; Colley J; Newbury-Ecob R; O'Callaghan F; Huyton M; O'Regan M; Tolmie J; Sampson J; Clarke A; Osborne J
    J Med Genet; 2006 Sep; 43(9):729-34. PubMed ID: 16611748
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.