BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 28663785)

  • 21. DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
    Beauregard-Lacroix E; Pacheco-Cuellar G; Ajeawung NF; Tardif J; Dieterich K; Dabir T; Vind-Kezunovic D; White SM; Zadori D; Castiglioni C; Tranebjærg L; Tørring PM; Blair E; Wisniewska M; Camurri MV; van Bever Y; Molidperee S; Taylor J; Dionne-Laporte A; Sisodiya SM; Hennekam RCM; Campeau PM
    Genet Med; 2021 Jan; 23(1):149-154. PubMed ID: 32873933
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy.
    Nakashima M; Negishi Y; Hori I; Hattori A; Saitoh S; Saitsu H
    Am J Med Genet A; 2019 Apr; 179(4):645-649. PubMed ID: 30680869
    [TBL] [Abstract][Full Text] [Related]  

  • 23. SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.
    Buchert R; Nesbitt AI; Tawamie H; Krantz ID; Medne L; Helbig I; Matalon DR; Reis A; Santani A; Sticht H; Abou Jamra R
    Orphanet J Rare Dis; 2016 Sep; 11(1):130. PubMed ID: 27683084
    [TBL] [Abstract][Full Text] [Related]  

  • 24. TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
    Falace A; Filipello F; La Padula V; Vanni N; Madia F; De Pietri Tonelli D; de Falco FA; Striano P; Dagna Bricarelli F; Minetti C; Benfenati F; Fassio A; Zara F
    Am J Hum Genet; 2010 Sep; 87(3):365-70. PubMed ID: 20727515
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation.
    Zimmern V; Riant F; Roze E; Ranza E; Lehmann-Horn F; de Bellescize J; Ville D; Lesca G; Korff CM
    Neuropediatrics; 2019 Oct; 50(5):308-312. PubMed ID: 31226716
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.
    Law CY; Chang ST; Cho SY; Yau EK; Ng GS; Fong NC; Lam CW
    Clin Chim Acta; 2015 Dec; 451(Pt B):292-6. PubMed ID: 26485252
    [TBL] [Abstract][Full Text] [Related]  

  • 27. TBC1D24 is likely to regulate vesicle trafficking in glia-like non-sensory epithelial cells of the cochlea.
    Defourny J
    Int J Dev Biol; 2024 Jun; ():. PubMed ID: 38869222
    [TBL] [Abstract][Full Text] [Related]  

  • 28. TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss.
    Oziębło D; Leja ML; Lazniewski M; Sarosiak A; Tacikowska G; Kochanek K; Plewczynski D; Skarżyński H; Ołdak M
    Sci Rep; 2021 May; 11(1):10300. PubMed ID: 33986365
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.
    Lee J; Jung SC; Hong YB; Yoo JH; Koo H; Lee JH; Hong HD; Kim SB; Chung KW; Choi BO
    Mol Med Rep; 2016 Jul; 14(1):33-40. PubMed ID: 27150940
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations.
    Zhang J; Chen J; Zeng Q; Zhang L; Tian X; Yang X; Yang Z; Wu Y; Wu X; Zhang Y
    Seizure; 2019 Jul; 69():228-234. PubMed ID: 31112829
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Novel variants in TBC1D24 associated with epilepsy and deafness: Report of two cases.
    Zhang N; Hou M; Ma S; Liu Y; Wei W; Chen Z
    Int J Dev Neurosci; 2021 Feb; 81(1):98-105. PubMed ID: 33063868
    [TBL] [Abstract][Full Text] [Related]  

  • 32.
    Ngoh A; Bras J; Guerreiro R; McTague A; Ng J; Meyer E; Chong WK; Boyd S; MacLellan L; Kirkpatrick M; Kurian MA
    Tremor Other Hyperkinet Mov (N Y); 2017; 7():452. PubMed ID: 28428906
    [TBL] [Abstract][Full Text] [Related]  

  • 33. SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.
    Ebach K; Joos H; Doose H; Stephani U; Kurlemann G; Fiedler B; Hahn A; Hauser E; Hundt K; Holthausen H; Müller U; Neubauer BA
    Neuropediatrics; 2005 Jun; 36(3):210-3. PubMed ID: 15944908
    [TBL] [Abstract][Full Text] [Related]  

  • 34. The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.
    Tona R; Chen W; Nakano Y; Reyes LD; Petralia RS; Wang YX; Starost MF; Wafa TT; Morell RJ; Cravedi KD; du Hoffmann J; Miyoshi T; Munasinghe JP; Fitzgerald TS; Chudasama Y; Omori K; Pierpaoli C; Banfi B; Dong L; Belyantseva IA; Friedman TB
    Hum Mol Genet; 2019 May; 28(9):1530-1547. PubMed ID: 30602030
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
    Chakchouk I; Grati M; Bademci G; Bensaid M; Ma Q; Chakroun A; Foster J; Yan D; Duman D; Diaz-Horta O; Ghorbel A; Mittal R; Farooq A; Tekin M; Masmoudi S; Liu XZ
    Mol Genet Genomics; 2015 Aug; 290(4):1327-34. PubMed ID: 25633957
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene.
    Algahtani H; Al-Hakami F; Al-Shehri M; Shirah B; Al-Qahtani MH; Abdulkareem AA; Naseer MI
    Seizure; 2019 Jul; 69():133-139. PubMed ID: 31035234
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
    Ohba C; Kato M; Takahashi S; Lerman-Sagie T; Lev D; Terashima H; Kubota M; Kawawaki H; Matsufuji M; Kojima Y; Tateno A; Goldberg-Stern H; Straussberg R; Marom D; Leshinsky-Silver E; Nakashima M; Nishiyama K; Tsurusaki Y; Miyake N; Tanaka F; Matsumoto N; Saitsu H
    Epilepsia; 2014 Jul; 55(7):994-1000. PubMed ID: 24888894
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
    Rafiullah R; Aslamkhan M; Paramasivam N; Thiel C; Mustafa G; Wiemann S; Schlesner M; Wade RC; Rappold GA; Berkel S
    J Med Genet; 2016 Feb; 53(2):138-44. PubMed ID: 26566883
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Novel TBC1D24 Mutations in a Case of Nonconvulsive Status Epilepticus.
    Li J; Liu R; Feng H; Zhang J; Wang D; Wang Y; Zeng J; Fan Y
    Front Neurol; 2018; 9():623. PubMed ID: 30108545
    [No Abstract]   [Full Text] [Related]  

  • 40. Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies.
    Fujiwara T
    Epilepsy Res; 2006 Aug; 70 Suppl 1():S223-30. PubMed ID: 16806826
    [TBL] [Abstract][Full Text] [Related]  

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