293 related articles for article (PubMed ID: 32412080)
1. Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability.
Weil D; Piton A; Lessel D; Standart N
Biochem Soc Trans; 2020 Jun; 48(3):1199-1211. PubMed ID: 32412080
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
Ahmed I; Buchert R; Zhou M; Jiao X; Mittal K; Sheikh TI; Scheller U; Vasli N; Rafiq MA; Brohi MQ; Mikhailov A; Ayaz M; Bhatti A; Sticht H; Nasr T; Carter MT; Uebe S; Reis A; Ayub M; John P; Kiledjian M; Vincent JB; Jamra RA
Hum Mol Genet; 2015 Jun; 24(11):3172-80. PubMed ID: 25701870
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.
Moudi M; Vahidi Mehrjardi MY; Hozhabri H; Metanat Z; Kalantar SM; Taheri M; Ghasemi N; Dehghani M
J Clin Lab Anal; 2022 Feb; 36(2):e24241. PubMed ID: 35019165
[TBL] [Abstract][Full Text] [Related]
11. Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Courraud J; Engel C; Quartier A; Drouot N; Houessou U; Plassard D; Sorlin A; Brischoux-Boucher E; Gouy E; Van Maldergem L; Rossi M; Lesca G; Edery P; Putoux A; Bilan F; Gilbert-Dussardier B; Atallah I; Kalscheuer VM; Mandel JL; Piton A
Mol Psychiatry; 2024 Feb; 29(2):287-296. PubMed ID: 38030819
[TBL] [Abstract][Full Text] [Related]
12. Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.
Ilyas M; Efthymiou S; Salpietro V; Noureen N; Zafar F; Rauf S; Mir A; Houlden H
BMC Med Genet; 2020 Mar; 21(1):59. PubMed ID: 32209057
[TBL] [Abstract][Full Text] [Related]
13. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Mannucci I; Dang NDP; Huber H; Murry JB; Abramson J; Althoff T; Banka S; Baynam G; Bearden D; Beleza-Meireles A; Benke PJ; Berland S; Bierhals T; Bilan F; Bindoff LA; Braathen GJ; Busk ØL; Chenbhanich J; Denecke J; Escobar LF; Estes C; Fleischer J; Groepper D; Haaxma CA; Hempel M; Holler-Managan Y; Houge G; Jackson A; Kellogg L; Keren B; Kiraly-Borri C; Kraus C; Kubisch C; Le Guyader G; Ljungblad UW; Brenman LM; Martinez-Agosto JA; Might M; Miller DT; Minks KQ; Moghaddam B; Nava C; Nelson SF; Parant JM; Prescott T; Rajabi F; Randrianaivo H; Reiter SF; Schuurs-Hoeijmakers J; Shieh PB; Slavotinek A; Smithson S; Stegmann APA; Tomczak K; Tveten K; Wang J; Whitlock JH; Zweier C; McWalter K; Juusola J; Quintero-Rivera F; Fischer U; Yeo NC; Kreienkamp HJ; Lessel D
Genome Med; 2021 May; 13(1):90. PubMed ID: 34020708
[TBL] [Abstract][Full Text] [Related]
14. Genetic basis of neurodevelopmental disorders in 103 Jordanian families.
Froukh T; Nafie O; Al Hait SAS; Laugwitz L; Sommerfeld J; Sturm M; Baraghiti A; Issa T; Al-Nazer A; Koch PA; Hanselmann J; Kootz B; Bauer P; Al-Ameri W; Abou Jamra R; Alfrook AJ; Hamadallah M; Sofan L; Riess A; Haack TB; Riess O; Buchert R
Clin Genet; 2020 Apr; 97(4):621-627. PubMed ID: 32056211
[TBL] [Abstract][Full Text] [Related]
15. Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders.
Han L; Chen M; Wang Y; Wu H; Quan Y; Bai T; Li K; Duan G; Gao Y; Hu Z; Xia K; Guo H
Mol Genet Genomic Med; 2019 Jul; 7(7):e00789. PubMed ID: 31199603
[TBL] [Abstract][Full Text] [Related]
16. Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability.
Muthusamy B; Selvan LDN; Nguyen TT; Manoj J; Stawiski EW; Jaiswal BS; Wang W; Raja R; Ramprasad VL; Gupta R; Murugan S; Kadandale JS; Prasad TSK; Reddy K; Peterson A; Pandey A; Seshagiri S; Girimaji SC; Gowda H
OMICS; 2017 May; 21(5):295-303. PubMed ID: 28481730
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
Zhao JJ; Halvardson J; Zander CS; Zaghlool A; Georgii-Hemming P; Månsson E; Brandberg G; Sävmarker HE; Frykholm C; Kuchinskaya E; Thuresson AC; Feuk L
Am J Med Genet B Neuropsychiatr Genet; 2018 Jan; 177(1):10-20. PubMed ID: 28990276
[TBL] [Abstract][Full Text] [Related]
19. Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Fliedner A; Kirchner P; Wiesener A; van de Beek I; Waisfisz Q; van Haelst M; Scott DA; Lalani SR; Rosenfeld JA; Azamian MS; Xia F; Dutra-Clarke M; Martinez-Agosto JA; Lee H; ; Noh GJ; Lippa N; Alkelai A; Aggarwal V; Agre KE; Gavrilova R; Mirzaa GM; Straussberg R; Cohen R; Horist B; Krishnamurthy V; McWalter K; Juusola J; Davis-Keppen L; Ohden L; van Slegtenhorst M; de Man SA; Ekici AB; Gregor A; van de Laar I; Zweier C
Am J Hum Genet; 2020 Sep; 107(3):544-554. PubMed ID: 32730804
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
