BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

303 related articles for article (PubMed ID: 29738522)

  • 1. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
    Heinzen EL; O'Neill AC; Zhu X; Allen AS; Bahlo M; Chelly J; Chen MH; Dobyns WB; Freytag S; Guerrini R; Leventer RJ; Poduri A; Robertson SP; Walsh CA; Zhang M; ;
    PLoS Genet; 2018 May; 14(5):e1007281. PubMed ID: 29738522
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy.
    Fallil Z; Pardoe H; Bachman R; Cunningham B; Parulkar I; Shain C; Poduri A; Knowlton R; Kuzniecky R;
    Epilepsy Behav; 2015 Oct; 51():321-7. PubMed ID: 26340046
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
    Conti V; Carabalona A; Pallesi-Pocachard E; Parrini E; Leventer RJ; Buhler E; McGillivray G; Michel FJ; Striano P; Mei D; Watrin F; Lise S; Pagnamenta AT; Taylor JC; Kini U; Clayton-Smith J; Novara F; Zuffardi O; Dobyns WB; Scheffer IE; Robertson SP; Berkovic SF; Represa A; Keays DA; Cardoso C; Guerrini R
    Brain; 2013 Nov; 136(Pt 11):3378-94. PubMed ID: 24056535
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia.
    Paliotti K; Dassi C; Berrahmoune S; Bejaran ML; Davila CEV; Martinez AB; Estupiñà MCF; Mancardi MM; Riva A; Giacomini T; Severino M; Romaniello R; Dubeau F; Srour M; Myers KA
    J Neurol; 2023 Aug; 270(8):3934-3945. PubMed ID: 37119372
    [TBL] [Abstract][Full Text] [Related]  

  • 5. MAP1B related syndrome: Case presentation and review of literature.
    Julca DM; Diaz J; Berger S; Leon E
    Am J Med Genet A; 2019 Sep; 179(9):1703-1708. PubMed ID: 31317654
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Epilepsy phenotypes associated with MAP1B-related brain malformations.
    Arya R; Spaeth C; Zhang W
    Epileptic Disord; 2021 Apr; 23(2):392-396. PubMed ID: 33772511
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.
    Farhan SMK; Nixon KCJ; Everest M; Edwards TN; Long S; Segal D; Knip MJ; Arts HH; Chakrabarti R; Wang J; Robinson JF; Lee D; Mirsattari SM; Rupar CA; Siu VM; ; Poulter MO; Hegele RA; Kramer JM
    Hum Mol Genet; 2017 Nov; 26(21):4278-4289. PubMed ID: 28973161
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Teaching NeuroImage: New Pattern of Periventricular Nodular Heterotopia in Twins With a Pathogenic Variant in the
    Xue H; Zhang C; Xiang L; Yue W
    Neurology; 2023 Sep; 101(13):e1387-e1388. PubMed ID: 37460233
    [No Abstract]   [Full Text] [Related]  

  • 9. Diverse genetic causes of polymicrogyria with epilepsy.
    Epilepsy Phenome/Genome Project, Epi4K Consortium
    Epilepsia; 2021 Apr; 62(4):973-983. PubMed ID: 33818783
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia.
    Lu YT; Hsu CY; Liu YT; Chan CK; Chuang YC; Lin CH; Chang KP; Ho CJ; Ng CC; Lim KS; Tsai MH
    Biomed J; 2022 Jun; 45(3):542-548. PubMed ID: 35660364
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary.
    Liu J; Hu J; Duan Y; Qin R; Guo C; Zhou H; Liu H; Liu C
    Mol Genet Genomic Med; 2023 Jul; 11(7):e2169. PubMed ID: 36934385
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.
    Kato K; Miya F; Hori I; Ieda D; Ohashi K; Negishi Y; Hattori A; Okamoto N; Kato M; Tsunoda T; Yamasaki M; Kanemura Y; Kosaki K; Saitoh S
    J Hum Genet; 2017 Sep; 62(9):861-863. PubMed ID: 28515470
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A somatic mutation in MEN1 gene detected in periventricular nodular heterotopia tissue obtained from depth electrodes.
    Montier L; Haneef Z; Gavvala J; Yoshor D; North R; Verla T; Van Ness PC; Drabek J; Goldman AM
    Epilepsia; 2019 Oct; 60(10):e104-e109. PubMed ID: 31489630
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Phenotypic manifestations in
    Loft Nagel J; Jønch AE; Nguyen NTTN; Bygum A
    BMJ Case Rep; 2022 Apr; 15(4):. PubMed ID: 35414575
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia.
    Hiromoto Y; Azuma Y; Suzuki Y; Hoshina M; Uchiyama Y; Mitsuhashi S; Miyatake S; Mizuguchi T; Takata A; Miyake N; Kato M; Matsumoto N
    Hum Genome Var; 2020 Dec; 7(1):43. PubMed ID: 33298907
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Quantitative assessment of corpus callosum morphology in periventricular nodular heterotopia.
    Pardoe HR; Mandelstam SA; Hiess RK; Kuzniecky RI; Jackson GD; ;
    Epilepsy Res; 2015 Jan; 109():40-7. PubMed ID: 25524841
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series.
    Teixeira SR; Blondiaux E; Cassart M; Couture A; Moutard ML; Whalen S; Gelot A; Ducou le Pointe H; Garel C;
    Prenat Diagn; 2015 Apr; 35(4):337-41. PubMed ID: 25475607
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Stereotactic laser ablation of epileptogenic periventricular nodular heterotopia.
    Esquenazi Y; Kalamangalam GP; Slater JD; Knowlton RC; Friedman E; Morris SA; Shetty A; Gowda A; Tandon N
    Epilepsy Res; 2014 Mar; 108(3):547-54. PubMed ID: 24518890
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX.
    Oegema R; Maat-Kievit A; Lequin MH; Schot R; Nanninga-van den Neste VM; Doornbos ME; de Wit MC; Halley DJ; Mancini GM
    Am J Med Genet A; 2012 Jun; 158A(6):1472-6. PubMed ID: 22585566
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures.
    Elbracht M; Kraft F; Begemann M; Holschbach P; Mull M; Kabat IM; Müller B; Häusler M; Kurth I; Hehr U
    Mol Genet Genomic Med; 2018 Nov; 6(6):1255-1260. PubMed ID: 30393983
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.