BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

158 related articles for article (PubMed ID: 31477274)

  • 21. Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders.
    Komulainen-Ebrahim J; Schreiber JM; Kangas SM; Pylkäs K; Suo-Palosaari M; Rahikkala E; Liinamaa J; Immonen EV; Hassinen I; Myllynen P; Rantala H; Hinttala R; Uusimaa J
    Seizure; 2019 Jul; 69():99-104. PubMed ID: 31004928
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [Novel compound heterozygous TBC1D24 mutations in a boy with infantile focal myoclonic epilepsy and literature review].
    Li WH; Zhou SZ; Zhang LM; Wang XH; Zhang YJ; Wu BB; Wang HJ; Yang HW
    Zhonghua Er Ke Za Zhi; 2017 Jan; 55(1):50-53. PubMed ID: 28072960
    [No Abstract]   [Full Text] [Related]  

  • 23. 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]  

  • 24. CACNA1A-related early-onset encephalopathy with myoclonic epilepsy: A case report.
    Hayashida T; Saito Y; Ishii A; Yamada H; Itakura A; Minato T; Fukuyama T; Maegaki Y; Hirose S
    Brain Dev; 2018 Feb; 40(2):130-133. PubMed ID: 28927557
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.
    Mattioli F; Piton A; Gérard B; Superti-Furga A; Mandel JL; Unger S
    Am J Med Genet A; 2016 Jun; 170(6):1626-9. PubMed ID: 27061120
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.
    Perrault I; Hamdan FF; Rio M; Capo-Chichi JM; Boddaert N; Décarie JC; Maranda B; Nabbout R; Sylvain M; Lortie A; Roux PP; Rossignol E; Gérard X; Barcia G; Berquin P; Munnich A; Rouleau GA; Kaplan J; Rozet JM; Michaud JL
    Am J Hum Genet; 2014 Jun; 94(6):891-7. PubMed ID: 24814191
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report.
    Tan Y; Hou M; Ma S; Liu P; Xia S; Wang Y; Chen L; Chen Z
    BMC Med Genet; 2018 Jun; 19(1):92. PubMed ID: 29866057
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.
    Rossi M; Chatron N; Labalme A; Ville D; Carneiro M; Edery P; des Portes V; Lemke JR; Sanlaville D; Lesca G
    Eur J Hum Genet; 2017 Feb; 25(3):376-380. PubMed ID: 28051072
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures.
    Trivisano M; Striano P; Sartorelli J; Giordano L; Traverso M; Accorsi P; Cappelletti S; Claps DJ; Vigevano F; Zara F; Specchio N
    Epilepsy Behav; 2015 Oct; 51():53-6. PubMed ID: 26262932
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.
    Nabbout R; Depienne C; Chipaux M; Girard B; Souville I; Trouillard O; Dulac O; Chelly J; Afenjar A; Héron D; Leguern E; Beldjord C; Bienvenu T; Bahi-Buisson N
    Epilepsy Res; 2009 Nov; 87(1):25-30. PubMed ID: 19734009
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in
    Privitera F; Pagano S; Meossi C; Battini R; Bartolini E; Montanaro D; Santorelli FM
    Genes (Basel); 2024 Apr; 15(5):. PubMed ID: 38790177
    [No Abstract]   [Full Text] [Related]  

  • 34. Translation elongation factor 1A2 is encoded by one of four closely related eef1a genes and is dispensable for survival in zebrafish.
    Idigo NJ; Soares DC; Abbott CM
    Biosci Rep; 2020 Jan; 40(1):. PubMed ID: 31950975
    [TBL] [Abstract][Full Text] [Related]  

  • 35. [A case of Okur-Chung syndrome caused by CSNK2A1 gene variation and review of literature].
    Duan HL; Peng J; Pang N; Chen SM; Xiong J; Guang SQ; Yin F
    Zhonghua Er Ke Za Zhi; 2019 May; 57(5):368-372. PubMed ID: 31060130
    [No Abstract]   [Full Text] [Related]  

  • 36. Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variant.
    Lance EI; Kronenbuerger M; Cohen JS; Furmanski O; Singer HS; Fatemi A
    SAGE Open Med Case Rep; 2018; 6():2050313X18807622. PubMed ID: 30377530
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
    Olson HE; Jean-Marçais N; Yang E; Heron D; Tatton-Brown K; van der Zwaag PA; Bijlsma EK; Krock BL; Backer E; Kamsteeg EJ; Sinnema M; Reijnders MRF; Bearden D; Begtrup A; Telegrafi A; Lunsing RJ; Burglen L; Lesca G; Cho MT; Smith LA; Sheidley BR; Moufawad El Achkar C; Pearl PL; Poduri A; Skraban CM; Tarpinian J; Nesbitt AI; Fransen van de Putte DE; Ruivenkamp CAL; Rump P; Chatron N; Sabatier I; De Bellescize J; Guibaud L; Sweetser DA; Waxler JL; Wierenga KJ; ; Donadieu J; Narayanan V; Ramsey KM; ; Nava C; Rivière JB; Vitobello A; Tran Mau-Them F; Philippe C; Bruel AL; Duffourd Y; Thomas L; Lelieveld SH; Schuurs-Hoeijmakers J; Brunner HG; Keren B; Thevenon J; Faivre L; Thomas G; Thauvin-Robinet C
    Am J Hum Genet; 2018 May; 102(5):995-1007. PubMed ID: 29656858
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.
    Pinto AM; Bianciardi L; Mencarelli MA; Imperatore V; Di Marco C; Furini S; Suppiej A; Salviati L; Tenconi R; Ariani F; Mari F; Renieri A
    Brain Dev; 2016 Jun; 38(6):590-6. PubMed ID: 26754451
    [TBL] [Abstract][Full Text] [Related]  

  • 39. The therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like features.
    Liang JS; Lin LJ; Yang MT; Wang JS; Lu JF
    Brain Dev; 2017 Nov; 39(10):877-881. PubMed ID: 28709814
    [TBL] [Abstract][Full Text] [Related]  

  • 40. First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.
    Kloth K; Denecke J; Hempel M; Johannsen J; Strom TM; Kubisch C; Lessel D
    Eur J Med Genet; 2017 Sep; 60(9):494-498. PubMed ID: 28687526
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.