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 *

178 related articles for article (PubMed ID: 33968856)

  • 61. Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders.
    Li Y; Jia X; Wu H; Xun G; Ou J; Zhang Q; Li H; Bai T; Hu Z; Zou X; Xia K; Guo H
    Am J Med Genet A; 2018 Dec; 176(12):2668-2676. PubMed ID: 30537371
    [TBL] [Abstract][Full Text] [Related]  

  • 62. Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.
    Arystarkhova E; Haq IU; Luebbert T; Mochel F; Saunders-Pullman R; Bressman SB; Feschenko P; Salazar C; Cook JF; Demarest S; Brashear A; Ozelius LJ; Sweadner KJ
    Neurobiol Dis; 2019 Dec; 132():104577. PubMed ID: 31425744
    [TBL] [Abstract][Full Text] [Related]  

  • 63. De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
    Reynhout S; Jansen S; Haesen D; van Belle S; de Munnik SA; Bongers EMHF; Schieving JH; Marcelis C; Amiel J; Rio M; Mclaughlin H; Ladda R; Sell S; Kriek M; Peeters-Scholte CMPCD; Terhal PA; van Gassen KL; Verbeek N; Henry S; Scott Schwoerer J; Malik S; Revencu N; Ferreira CR; Macnamara E; Braakman HMH; Brimble E; Ruzhnikov MRZ; Wagner M; Harrer P; Wieczorek D; Kuechler A; Tziperman B; Barel O; de Vries BBA; Gordon CT; Janssens V; Vissers LELM
    Am J Hum Genet; 2019 Jan; 104(1):139-156. PubMed ID: 30595372
    [TBL] [Abstract][Full Text] [Related]  

  • 64. A de novo missense mutation in SLC12A5 found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizures.
    Saito T; Ishii A; Sugai K; Sasaki M; Hirose S
    Clin Genet; 2017 Dec; 92(6):654-658. PubMed ID: 28477354
    [TBL] [Abstract][Full Text] [Related]  

  • 65. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
    Lassuthova P; Rebelo AP; Ravenscroft G; Lamont PJ; Davis MR; Manganelli F; Feely SM; Bacon C; Brožková DŠ; Haberlova J; Mazanec R; Tao F; Saghira C; Abreu L; Courel S; Powell E; Buglo E; Bis DM; Baxter MF; Ong RW; Marns L; Lee YC; Bai Y; Isom DG; Barro-Soria R; Chung KW; Scherer SS; Larsson HP; Laing NG; Choi BO; Seeman P; Shy ME; Santoro L; Zuchner S
    Am J Hum Genet; 2018 Mar; 102(3):505-514. PubMed ID: 29499166
    [TBL] [Abstract][Full Text] [Related]  

  • 66. Beyond Dravet Syndrome: Characterization of a Novel, More Severe SCN1A-Linked Epileptic Encephalopathy.
    Beck VC; Hull JM; Isom LL
    Epilepsy Curr; 2019; 19(4):266-268. PubMed ID: 31257984
    [TBL] [Abstract][Full Text] [Related]  

  • 67. Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.
    Goldstein JH; Tim-Aroon T; Shieh J; Merrill M; Deeb KK; Zhang S; Bass NE; Bedoyan JK
    Eur J Med Genet; 2015 Oct; 58(10):562-8. PubMed ID: 26386245
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Genotype-phenotype correlations in patients with de novo
    Malerba F; Alberini G; Balagura G; Marchese F; Amadori E; Riva A; Vari MS; Gennaro E; Madia F; Salpietro V; Angriman M; Giordano L; Accorsi P; Trivisano M; Specchio N; Russo A; Gobbi G; Raviglione F; Pisano T; Marini C; Mancardi MM; Nobili L; Freri E; Castellotti B; Capovilla G; Coppola A; Verrotti A; Martelli P; Miceli F; Maragliano L; Benfenati F; Cilio MR; Johannesen KM; Møller RS; Ceulemans B; Minetti C; Weckhuysen S; Zara F; Taglialatela M; Striano P
    Neurol Genet; 2020 Dec; 6(6):e528. PubMed ID: 33659638
    [TBL] [Abstract][Full Text] [Related]  

  • 69. De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
    Palmer EE; Stuhlmann T; Weinert S; Haan E; Van Esch H; Holvoet M; Boyle J; Leffler M; Raynaud M; Moraine C; van Bokhoven H; Kleefstra T; Kahrizi K; Najmabadi H; Ropers HH; Delgado MR; Sirsi D; Golla S; Sommer A; Pietryga MP; Chung WK; Wynn J; Rohena L; Bernardo E; Hamlin D; Faux BM; Grange DK; Manwaring L; Tolmie J; Joss S; ; Cobben JM; Duijkers FAM; Goehringer JM; Challman TD; Hennig F; Fischer U; Grimme A; Suckow V; Musante L; Nicholl J; Shaw M; Lodh SP; Niu Z; Rosenfeld JA; Stankiewicz P; Jentsch TJ; Gecz J; Field M; Kalscheuer VM
    Mol Psychiatry; 2018 Feb; 23(2):222-230. PubMed ID: 27550844
    [TBL] [Abstract][Full Text] [Related]  

  • 70. Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.
    Zweier M; Begemann A; McWalter K; Cho MT; Abela L; Banka S; Behring B; Berger A; Brown CW; Carneiro M; Chen J; Cooper GM; ; Finnila CR; Guillen Sacoto MJ; Henderson A; Hüffmeier U; Joset P; Kerr B; Lesca G; Leszinski GS; McDermott JH; Meltzer MR; Monaghan KG; Mostafavi R; Õunap K; Plecko B; Powis Z; Purcarin G; Reimand T; Riedhammer KM; Schreiber JM; Sirsi D; Wierenga KJ; Wojcik MH; Papuc SM; Steindl K; Sticht H; Rauch A
    Eur J Hum Genet; 2019 May; 27(5):747-759. PubMed ID: 30664714
    [TBL] [Abstract][Full Text] [Related]  

  • 71. SLC2A1 mutations are a rare cause of pediatric-onset hereditary spastic paraplegia.
    Nicita F; Schirinzi T; Stregapede F; Vasco G; Bertini E; Travaglini L
    Eur J Paediatr Neurol; 2019 Mar; 23(2):329-332. PubMed ID: 30616884
    [TBL] [Abstract][Full Text] [Related]  

  • 72. Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.
    Sollis E; Graham SA; Vino A; Froehlich H; Vreeburg M; Dimitropoulou D; Gilissen C; Pfundt R; Rappold GA; Brunner HG; Deriziotis P; Fisher SE
    Hum Mol Genet; 2016 Feb; 25(3):546-57. PubMed ID: 26647308
    [TBL] [Abstract][Full Text] [Related]  

  • 73. Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum.
    Hundallah K; Alenizi A; AlHashem A; Tabarki B
    Eur J Paediatr Neurol; 2016 Jul; 20(4):657-60. PubMed ID: 27117551
    [TBL] [Abstract][Full Text] [Related]  

  • 74. De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.
    An Y; Zhang L; Liu W; Jiang Y; Chen X; Lan X; Li G; Hang Q; Wang J; Gusella JF; Du Y; Shen Y
    Hum Genet; 2020 Apr; 139(4):499-512. PubMed ID: 31980904
    [TBL] [Abstract][Full Text] [Related]  

  • 75. Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
    Gerald B; Ramsey K; Belnap N; Szelinger S; Siniard AL; Balak C; Russell M; Richholt R; De Both M; Claasen AM; Schrauwen I; Huentelman MJ; Craig DW; Rangasamy S; Narayanan V
    Semin Pediatr Neurol; 2018 Jul; 26():28-32. PubMed ID: 29961512
    [TBL] [Abstract][Full Text] [Related]  

  • 76. SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia.
    Leveille E; Estiar MA; Krohn L; Spiegelman D; Dionne-Laporte A; Dupré N; Trempe JF; Rouleau GA; Gan-Or Z
    J Hum Genet; 2019 Nov; 64(11):1145-1151. PubMed ID: 31515523
    [TBL] [Abstract][Full Text] [Related]  

  • 77. De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
    Blanchard MG; Willemsen MH; Walker JB; Dib-Hajj SD; Waxman SG; Jongmans MC; Kleefstra T; van de Warrenburg BP; Praamstra P; Nicolai J; Yntema HG; Bindels RJ; Meisler MH; Kamsteeg EJ
    J Med Genet; 2015 May; 52(5):330-7. PubMed ID: 25725044
    [TBL] [Abstract][Full Text] [Related]  

  • 78. Interaction of alpha(1)-Na,K-ATPase and Na,K,2Cl-cotransporter genes in human essential hypertension.
    Glorioso N; Filigheddu F; Troffa C; Soro A; Parpaglia PP; Tsikoudakis A; Myers RH; Herrera VL; Ruiz-Opazo N
    Hypertension; 2001 Aug; 38(2):204-9. PubMed ID: 11509477
    [TBL] [Abstract][Full Text] [Related]  

  • 79. [Phenotype study of SCN2A gene related epilepsy].
    Zeng Q; Zhang YH; Yang XL; Zhang J; Liu AJ; Liu XY; Jiang YW; Wu XR
    Zhonghua Er Ke Za Zhi; 2018 Jul; 56(7):518-523. PubMed ID: 29996185
    [No Abstract]   [Full Text] [Related]  

  • 80. Drosophila models used to simulate human ATP1A1 gene mutations that cause Charcot-Marie-Tooth type 2 disease and refractory seizures.
    Yuan Y; Yu L; Zhuang X; Wen D; He J; Hong J; Xie J; Ling S; Du X; Chen W; Wang X
    Neural Regen Res; 2025 Jan; 20(1):265-276. PubMed ID: 38767491
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.