BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

183 related articles for article (PubMed ID: 30936465)

  • 1. Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.
    Scala M; Torella A; Severino M; Morana G; Castello R; Accogli A; Verrico A; Vari MS; Cappuccio G; Pinelli M; Vitiello G; Terrone G; D'Amico A; ; Nigro V; Capra V
    Eur J Hum Genet; 2019 Aug; 27(8):1254-1259. PubMed ID: 30936465
    [TBL] [Abstract][Full Text] [Related]  

  • 2. De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.
    Nicola P; Blackburn PR; Rasmussen KJ; Bertsch NL; Klee EW; Hasadsri L; Pichurin PN; Rankin J; Raymond FL; ; Clayton-Smith J
    Am J Med Genet A; 2019 Apr; 179(4):570-578. PubMed ID: 30734472
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report.
    Moresco G; Costanza J; Santaniello C; Rondinone O; Grilli F; Prada E; Orcesi S; Coro I; Pichiecchio A; Marchisio P; Miozzo M; Fontana L; Milani D
    Ital J Pediatr; 2021 Mar; 47(1):81. PubMed ID: 33789733
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.
    Kellaris G; Khan K; Baig SM; Tsai IC; Zamora FM; Ruggieri P; Natowicz MR; Katsanis N
    Hum Genomics; 2018 Mar; 12(1):11. PubMed ID: 29490693
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
    Snijders Blok L; Madsen E; Juusola J; Gilissen C; Baralle D; Reijnders MR; Venselaar H; Helsmoortel C; Cho MT; Hoischen A; Vissers LE; Koemans TS; Wissink-Lindhout W; Eichler EE; Romano C; Van Esch H; Stumpel C; Vreeburg M; Smeets E; Oberndorff K; van Bon BW; Shaw M; Gecz J; Haan E; Bienek M; Jensen C; Loeys BL; Van Dijck A; Innes AM; Racher H; Vermeer S; Di Donato N; Rump A; Tatton-Brown K; Parker MJ; Henderson A; Lynch SA; Fryer A; Ross A; Vasudevan P; Kini U; Newbury-Ecob R; Chandler K; Male A; ; Dijkstra S; Schieving J; Giltay J; van Gassen KL; Schuurs-Hoeijmakers J; Tan PL; Pediaditakis I; Haas SA; Retterer K; Reed P; Monaghan KG; Haverfield E; Natowicz M; Myers A; Kruer MC; Stein Q; Strauss KA; Brigatti KW; Keating K; Burton BK; Kim KH; Charrow J; Norman J; Foster-Barber A; Kline AD; Kimball A; Zackai E; Harr M; Fox J; McLaughlin J; Lindstrom K; Haude KM; van Roozendaal K; Brunner H; Chung WK; Kooy RF; Pfundt R; Kalscheuer V; Mehta SG; Katsanis N; Kleefstra T
    Am J Hum Genet; 2015 Aug; 97(2):343-52. PubMed ID: 26235985
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.
    Parra A; Pascual P; Cazalla M; Arias P; Gallego-Zazo N; San-Martín EA; Silván C; Santos-Simarro F; ; Nevado J; Tenorio-Castano J; Lapunzina P
    Clin Genet; 2024 Feb; 105(2):140-149. PubMed ID: 37904618
    [TBL] [Abstract][Full Text] [Related]  

  • 7. DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
    Dikow N; Granzow M; Graul-Neumann LM; Karch S; Hinderhofer K; Paramasivam N; Behl LJ; Kaufmann L; Fischer C; Evers C; Schlesner M; Eils R; Borck G; Zweier C; Bartram CR; Carey JC; Moog U
    Am J Med Genet A; 2017 May; 173(5):1369-1373. PubMed ID: 28371085
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A
    Chen Y; Liu KY; Yang ZL; Li XH; Xu R; Zhou H
    Front Pediatr; 2020; 8():303. PubMed ID: 32714884
    [No Abstract]   [Full Text] [Related]  

  • 9. Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.
    Lennox AL; Hoye ML; Jiang R; Johnson-Kerner BL; Suit LA; Venkataramanan S; Sheehan CJ; Alsina FC; Fregeau B; Aldinger KA; Moey C; Lobach I; Afenjar A; Babovic-Vuksanovic D; Bézieau S; Blackburn PR; Bunt J; Burglen L; Campeau PM; Charles P; Chung BHY; Cogné B; Curry C; D'Agostino MD; Di Donato N; Faivre L; Héron D; Innes AM; Isidor B; Keren B; Kimball A; Klee EW; Kuentz P; Küry S; Martin-Coignard D; Mirzaa G; Mignot C; Miyake N; Matsumoto N; Fujita A; Nava C; Nizon M; Rodriguez D; Blok LS; Thauvin-Robinet C; Thevenon J; Vincent M; Ziegler A; Dobyns W; Richards LJ; Barkovich AJ; Floor SN; Silver DL; Sherr EH
    Neuron; 2020 May; 106(3):404-420.e8. PubMed ID: 32135084
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Analysis of a child with X-linked mental retardation due to a de novo variant of DDX3X gene].
    Wang Q; Yang Y; Liu L; Tie X; Lei H; Zhang L; Che F
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Oct; 39(10):1111-1115. PubMed ID: 36184094
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
    Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; Ferrero GB; Tartaglia M; Brusco A
    Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Expansion of Clinical and Genetic Spectrum of
    Dai Y; Yang Z; Guo J; Li H; Gong J; Xie Y; Xiao B; Wang H; Long L
    Front Mol Neurosci; 2022; 15():793001. PubMed ID: 35392274
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Social and emotional characteristics of girls and young women with DDX3X-associated intellectual disability: a descriptive and comparative study.
    Ng-Cordell E; Kolesnik-Taylor A; O'Brien S; Astle D; Scerif G; Baker K
    J Autism Dev Disord; 2023 Aug; 53(8):3208-3219. PubMed ID: 35536379
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
    Balak C; Benard M; Schaefer E; Iqbal S; Ramsey K; Ernoult-Lange M; Mattioli F; Llaci L; Geoffroy V; Courel M; Naymik M; Bachman KK; Pfundt R; Rump P; Ter Beest J; Wentzensen IM; Monaghan KG; McWalter K; Richholt R; Le Béchec A; Jepsen W; De Both M; Belnap N; Boland A; Piras IS; Deleuze JF; Szelinger S; Dollfus H; Chelly J; Muller J; Campbell A; Lal D; Rangasamy S; Mandel JL; Narayanan V; Huentelman M; Weil D; Piton A
    Am J Hum Genet; 2019 Sep; 105(3):509-525. PubMed ID: 31422817
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
    Paine I; Posey JE; Grochowski CM; Jhangiani SN; Rosenheck S; Kleyner R; Marmorale T; Yoon M; Wang K; Robison R; Cappuccio G; Pinelli M; Magli A; Coban Akdemir Z; Hui J; Yeung WL; Wong BKY; Ortega L; Bekheirnia MR; Bierhals T; Hempel M; Johannsen J; Santer R; Aktas D; Alikasifoglu M; Bozdogan S; Aydin H; Karaca E; Bayram Y; Ityel H; Dorschner M; White JJ; Wilichowski E; Wortmann SB; Casella EB; Kitajima JP; Kok F; Monteiro F; Muzny DM; Bamshad M; Gibbs RA; Sutton VR; ; Van Esch H; Brunetti-Pierri N; Hildebrandt F; Brautbar A; Van den Veyver IB; Glass I; Lessel D; Lyon GJ; Lupski JR
    Am J Hum Genet; 2019 Aug; 105(2):302-316. PubMed ID: 31256877
    [TBL] [Abstract][Full Text] [Related]  

  • 16. DDX3X Suppresses the Susceptibility of Hindbrain Lineages to Medulloblastoma.
    Patmore DM; Jassim A; Nathan E; Gilbertson RJ; Tahan D; Hoffmann N; Tong Y; Smith KS; Kanneganti TD; Suzuki H; Taylor MD; Northcott P; Gilbertson RJ
    Dev Cell; 2020 Aug; 54(4):455-470.e5. PubMed ID: 32553121
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.
    Burns W; Bird LM; Heron D; Keren B; Ramachandra D; Thiffault I; Del Viso F; Amudhavalli S; Engleman K; Parenti I; Kaiser FJ; Wierzba J; Riedhammer KM; Liptay S; Zadeh N; Porrmann J; Fischer A; Gößwein S; McLaughlin HM; Telegrafi A; Langley KG; Steet R; Louie RJ; Lyons MJ
    Am J Med Genet A; 2021 Oct; 185(10):2863-2872. PubMed ID: 34050707
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Prospective and detailed behavioral phenotyping in DDX3X syndrome.
    Tang L; Levy T; Guillory S; Halpern D; Zweifach J; Giserman-Kiss I; Foss-Feig JH; Frank Y; Lozano R; Belani P; Layton C; Lerman B; Frowner E; Breen MS; De Rubeis S; Kostic A; Kolevzon A; Buxbaum JD; Siper PM; Grice DE
    Mol Autism; 2021 May; 12(1):36. PubMed ID: 33993884
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Aberrant cortical development is driven by impaired cell cycle and translational control in a
    Hoye ML; Calviello L; Poff AJ; Ejimogu NE; Newman CR; Montgomery MD; Ou J; Floor SN; Silver DL
    Elife; 2022 Jun; 11():. PubMed ID: 35762573
    [TBL] [Abstract][Full Text] [Related]  

  • 20. De novo variants in
    Bina R; Matalon D; Fregeau B; Tarsitano JJ; Aukrust I; Houge G; Bend R; Warren H; Stevenson RE; Stuurman KE; Barkovich AJ; Sherr EH
    J Med Genet; 2020 Jul; 57(7):461-465. PubMed ID: 31924697
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.