BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

98 related articles for article (PubMed ID: 31028281)

  • 1. Author Correction: A 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; 2019 Jul; 64(7):701-702. PubMed ID: 31028281
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly.
    Stouffs K; Verloo P; Brock S; Régal L; Beysen D; Ceulemans B; Jansen AC; Meuwissen MEC
    Front Genet; 2020; 11():26. PubMed ID: 32117442
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Admixed phenotype of NEDD4L associated periventricular nodular heterotopia: A case report.
    Pecimonova M; Radvanszky J; Smolak D; Budis J; Lichvar M; Kristinova D; Rozova I; Turna J; Szemes T
    Medicine (Baltimore); 2021 Jun; 100(22):e26136. PubMed ID: 34087865
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.
    Broix L; Jagline H; Ivanova E; Schmucker S; Drouot N; Clayton-Smith J; Pagnamenta AT; Metcalfe KA; Isidor B; Louvier UW; Poduri A; Taylor JC; Tilly P; Poirier K; Saillour Y; Lebrun N; Stemmelen T; Rudolf G; Muraca G; Saintpierre B; Elmorjani A; ; Moïse M; Weirauch NB; Guerrini R; Boland A; Olaso R; Masson C; Tripathy R; Keays D; Beldjord C; Nguyen L; Godin J; Kini U; Nischké P; Deleuze JF; Bahi-Buisson N; Sumara I; Hinckelmann MV; Chelly J
    Nat Genet; 2016 Nov; 48(11):1349-1358. PubMed ID: 27694961
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Clinical and genetic analysis of a patient with periventricular nodular heterotopia 7 caused by NEDD4L gene variant].
    Ma J; Gao J; Zhang K; Lyu Y; Gao M; Wang D; Gai Z; Liu Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jan; 37(1):41-43. PubMed ID: 31922594
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Ophthalmic Findings Associated with NEDD4L-related Disorder.
    Santilli C; Aggarwal A; Dailey C; McClelland C
    J AAPOS; 2022 Jun; 26(3):164-167. PubMed ID: 35577021
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Xq26.1-26.2 gain identified on array comparative genomic hybridization in bilateral periventricular nodular heterotopia with overlying polymicrogyria.
    Abe Y; Kikuchi A; Kobayashi S; Wakusawa K; Tanaka S; Inui T; Kunishima S; Kure S; Haginoya K
    Dev Med Child Neurol; 2014 Dec; 56(12):1221-1224. PubMed ID: 25052774
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.
    Parrini E; Mei D; Pisanti MA; Catarzi S; Pucatti D; Bianchini C; Mascalchi M; Bertini E; Morrone A; Cavaliere ML; Guerrini R
    J Med Genet; 2015 Jun; 52(6):405-12. PubMed ID: 25755106
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Bilateral periventricular nodular heterotopia with megalencephaly: a case report.
    Abe Y; Kobayashi S; Wakusawa K; Tanaka S; Inui T; Yamamoto T; Kunishima S; Haginoya K
    J Child Neurol; 2014 Jun; 29(6):818-22. PubMed ID: 23439715
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Periventricular nodular heterotopia and dystonia due to an ARFGEF2 mutation.
    Bardón-Cancho EJ; Muñoz-Jiménez L; Vázquez-López M; Ruíz-Martín Y; García-Morín M; Barredo-Valderrama E
    Pediatr Neurol; 2014 Sep; 51(3):461-4. PubMed ID: 25160555
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Periventricular nodular heterotopia: report of a pediatric series.
    Spalice A; Taddeucci G; Perla FM; Pascali MP; Iannetti P
    J Child Neurol; 2002 Apr; 17(4):300-4. PubMed ID: 12088088
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Neuronal migration disorders, genetics, and epileptogenesis.
    Guerrini R; Filippi T
    J Child Neurol; 2005 Apr; 20(4):287-99. PubMed ID: 15921228
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations.
    Solé G; Coupry I; Rooryck C; Guérineau E; Martins F; Devés S; Hubert C; Souakri N; Boute O; Marchal C; Faivre L; Landré E; Debruxelles S; Dieux-Coeslier A; Boulay C; Chassagnon S; Michel V; Routon MC; Toutain A; Philip N; Lacombe D; Villard L; Arveiler B; Goizet C
    J Neurol Neurosurg Psychiatry; 2009 Dec; 80(12):1394-8. PubMed ID: 19917821
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations.
    Liu W; Yan B; An D; Xiao J; Hu F; Zhou D
    Epilepsy Res; 2017 Jul; 133():33-40. PubMed ID: 28411558
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Like father, like son: periventricular nodular heterotopia and nonverbal learning disorder.
    McCann MV; Pongonis SJ; Golomb MR; Edwards-Brown M; Christensen CK; Sokol DK
    J Child Neurol; 2008 Aug; 23(8):950-3. PubMed ID: 18660478
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
    Parrini E; Ramazzotti A; Dobyns WB; Mei D; Moro F; Veggiotti P; Marini C; Brilstra EH; Dalla Bernardina B; Goodwin L; Bodell A; Jones MC; Nangeroni M; Palmeri S; Said E; Sander JW; Striano P; Takahashi Y; Van Maldergem L; Leonardi G; Wright M; Walsh CA; Guerrini R
    Brain; 2006 Jul; 129(Pt 7):1892-906. PubMed ID: 16684786
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Chiari type 1 malformation and periventricular nodular heterotopia in a 6-year-old boy with congenital hemiplegia: a case report.
    Kaushik JS; Sharma S; Aneja S; Kumar A
    J Child Neurol; 2014 Jan; 29(1):99-102. PubMed ID: 23266946
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.