BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

226 related articles for article (PubMed ID: 33955715)

  • 41. A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion.
    Du X; An Y; Yu L; Liu R; Qin Y; Guo X; Sun D; Zhou S; Wu B; Jiang YH; Wang Y
    BMC Med Genet; 2014 May; 15():62. PubMed ID: 24885232
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort.
    Liu L; Liu F; Wang Q; Xie H; Li Z; Lu Q; Wang Y; Zhang M; Zhang Y; Picker J; Cui X; Zou L; Chen X
    Mol Genet Genomic Med; 2021 Jun; 9(6):e1689. PubMed ID: 33951346
    [TBL] [Abstract][Full Text] [Related]  

  • 43. The three stages of epilepsy in patients with CDKL5 mutations.
    Bahi-Buisson N; Kaminska A; Boddaert N; Rio M; Afenjar A; Gérard M; Giuliano F; Motte J; Héron D; Morel MA; Plouin P; Richelme C; des Portes V; Dulac O; Philippe C; Chiron C; Nabbout R; Bienvenu T
    Epilepsia; 2008 Jun; 49(6):1027-37. PubMed ID: 18266744
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders.
    Schrauwen I; Rajendran Y; Acharya A; Öhman S; Arvio M; Paetau R; Siren A; Avela K; Granvik J; Leal SM; Määttä T; Kokkonen H; Järvelä I
    Sci Rep; 2024 May; 14(1):11239. PubMed ID: 38755281
    [TBL] [Abstract][Full Text] [Related]  

  • 45. CDKL5 Deficiency Disorder Without Epilepsy.
    Aznar-Laín G; Fernández-Mayoralas DM; Caicoya AG; Rocamora R; Pérez-Jurado LA
    Pediatr Neurol; 2023 Jul; 144():84-89. PubMed ID: 37201242
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.
    Mitta N; Menon RN; McTague A; Radhakrishnan A; Sundaram S; Cherian A; Madhavilatha GK; Mannan AU; Nampoothiri S; Thomas SV
    Epilepsy Res; 2020 Oct; 166():106398. PubMed ID: 32593896
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males.
    Masliah-Plachon J; Auvin S; Nectoux J; Fichou Y; Chelly J; Bienvenu T
    Am J Med Genet A; 2010 Aug; 152A(8):2110-1. PubMed ID: 20602487
    [No Abstract]   [Full Text] [Related]  

  • 48. Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy.
    Kim SH; Seo J; Kwon SS; Teng LY; Won D; Shin S; Lee JS; Lee ST; Choi JR; Kang HC
    Epilepsia; 2024 Mar; 65(3):766-778. PubMed ID: 38073125
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine.
    Snyder HE; Jain P; RamachandranNair R; Jones KC; Whitney R
    Genes (Basel); 2024 Feb; 15(3):. PubMed ID: 38540325
    [TBL] [Abstract][Full Text] [Related]  

  • 50. CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature.
    Lilles S; Talvik I; Noormets K; Vaher U; Õunap K; Reimand T; Sander V; Ilves P; Talvik T
    Neuropediatrics; 2016 Dec; 47(6):361-367. PubMed ID: 27599155
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Analysis of electrocardiograms in individuals with CDKL5 deficiency disorder.
    Stansauk J; Fidell A; Benke T; Schaffer M; Demarest ST
    Am J Med Genet A; 2023 Jan; 191(1):108-111. PubMed ID: 36372969
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.
    Brakta S; Hawkins ZA; Sahajpal N; Seman N; Kira D; Chorich LP; Kim HG; Xu H; Phillips JA; Kolhe R; Layman LC
    Hum Genet; 2023 Apr; 142(4):483-494. PubMed ID: 36797380
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene.
    Gökben S; Serdaroğlu G; Yılmaz S; Bienvenu T; Ceylaner S
    Turk J Pediatr; 2015; 57(3):272-6. PubMed ID: 26701947
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Optical Genome Mapping for Chromosomal Aberrations Detection-False-Negative Results and Contributing Factors.
    Xu Y; Zhang Q; Wang Y; Zhou R; Ji X; Meng L; Luo C; Liu A; Jiao J; Chen H; Zeng H; Hu P; Xu Z
    Diagnostics (Basel); 2024 Jan; 14(2):. PubMed ID: 38248042
    [TBL] [Abstract][Full Text] [Related]  

  • 55. 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]  

  • 56. 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]  

  • 57. CDKL5 deficiency disorder and other infantile-onset genetic epilepsies.
    Daniels C; Greene C; Smith L; Pestana-Knight E; Demarest S; Zhang B; Benke TA; Poduri A; Olson HE;
    Dev Med Child Neurol; 2024 Apr; 66(4):456-468. PubMed ID: 37771170
    [TBL] [Abstract][Full Text] [Related]  

  • 58. [Trends and expectations the research on the molecular background of epileptic encephalopathies - state of the art in 2017].
    Hoffman-Zacharska D; Górka-Skoczylas P
    Dev Period Med; 2017; 21(4):317-327. PubMed ID: 29291359
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study.
    Keeley J; Benson-Goldberg S; Saldaris J; Lariviere J; Leonard H; Marsh ED; Demarest ST; Benke TA; Jacoby P; Downs J
    Am J Med Genet A; 2024 Jul; 194(7):e63570. PubMed ID: 38425131
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Novel Cross-Correction-Enabled Gene Therapy for CDKL5-Deficiency Disorder.
    Nitschke F; Montalbano AP
    Neurotherapeutics; 2022 Oct; 19(6):1878-1882. PubMed ID: 36266502
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.