98 related articles for article (PubMed ID: 31274575)
1. Expansion of phenotype of DDX3X syndrome: six new cases.
Beal B; Hayes I; McGaughran J; Amor DJ; Miteff C; Jackson V; van Reyk O; Subramanian G; Hildebrand MS; Morgan AT; Goel H
Clin Dysmorphol; 2019 Oct; 28(4):169-174. PubMed ID: 31274575
[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. 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]
4. Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.
Moosa S; Böhrer-Rabel H; Altmüller J; Beleggia F; Nürnberg P; Li Y; Yigit G; Wollnik B
Am J Med Genet A; 2017 Jan; 173(1):264-267. PubMed ID: 27753196
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.
Schirwani S; Wakeling E; Smith K; ; Balasubramanian M
Am J Med Genet A; 2018 May; 176(5):1238-1244. PubMed ID: 29681091
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review.
Galarreta CI; Wigby KM; Jones MC
Clin Dysmorphol; 2019 Oct; 28(4):175-183. PubMed ID: 31162149
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
Carlston CM; O'Donnell-Luria AH; Underhill HR; Cummings BB; Weisburd B; Minikel EV; Birnbaum DP; ; Tvrdik T; MacArthur DG; Mao R
Hum Mutat; 2017 May; 38(5):517-523. PubMed ID: 28229513
[TBL] [Abstract][Full Text] [Related]
13. Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.
Casey J; Jenkinson A; Magee A; Ennis S; Monavari A; Green A; Lynch SA; Crushell E; Hughes J
Clin Dysmorphol; 2016 Oct; 25(4):146-51. PubMed ID: 27295358
[TBL] [Abstract][Full Text] [Related]
14. Severe gastrointestinal symptoms caused by a novel DDX3X variant.
Okano S; Miyamoto A; Makita Y; Taketazu G; Kimura K; Fukuda I; Tanaka H; Yanagi K; Kaname T
Eur J Med Genet; 2020 Dec; 63(12):104058. PubMed ID: 32896648
[TBL] [Abstract][Full Text] [Related]
15. Genotype and phenotype spectrum of NRAS germline variants.
Altmüller F; Lissewski C; Bertola D; Flex E; Stark Z; Spranger S; Baynam G; Buscarilli M; Dyack S; Gillis J; Yntema HG; Pantaleoni F; van Loon RL; MacKay S; Mina K; Schanze I; Tan TY; Walsh M; White SM; Niewisch MR; García-Miñaúr S; Plaza D; Ahmadian MR; Cavé H; Tartaglia M; Zenker M
Eur J Hum Genet; 2017 Jun; 25(7):823-831. PubMed ID: 28594414
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.
Giugliano T; Santoro C; Torella A; Del Vecchio Blanco F; Bernardo P; Nigro V; Piluso G
Am J Med Genet A; 2018 Mar; 176(3):722-726. PubMed ID: 29283210
[TBL] [Abstract][Full Text] [Related]
18. High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome.
de Kock L; Wang YC; Revil T; Badescu D; Rivera B; Sabbaghian N; Wu M; Weber E; Sandoval C; Hopman SM; Merks JH; van Hagen JM; Bouts AH; Plager DA; Ramasubramanian A; Forsmark L; Doyle KL; Toler T; Callahan J; Engelenberg C; Bouron-Dal Soglio D; Priest JR; Ragoussis J; Foulkes WD
J Med Genet; 2016 Jan; 53(1):43-52. PubMed ID: 26475046
[TBL] [Abstract][Full Text] [Related]
19. Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.
Radford EJ; Tan HK; Andersson MHL; Stephenson JD; Gardner EJ; Ironfield H; Waters AJ; Gitterman D; Lindsay S; Abascal F; Martincorena I; Kolesnik-Taylor A; Ng-Cordell E; Firth HV; Baker K; Perry JRB; Adams DJ; Gerety SS; Hurles ME
Nat Commun; 2023 Dec; 14(1):7702. PubMed ID: 38057330
[TBL] [Abstract][Full Text] [Related]
20. Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome.
Boitnott A; Garcia-Forn M; Ung DC; Niblo K; Mendonca D; Park Y; Flores M; Maxwell S; Ellegood J; Qiu LR; Grice DE; Lerch JP; Rasin MR; Buxbaum JD; Drapeau E; De Rubeis S
Biol Psychiatry; 2021 Dec; 90(11):742-755. PubMed ID: 34344536
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
