229 related articles for article (PubMed ID: 30679813)
21. De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.
Schäfgen J; Cremer K; Becker J; Wieland T; Zink AM; Kim S; Windheuser IC; Kreiß M; Aretz S; Strom TM; Wieczorek D; Engels H
Eur J Hum Genet; 2016 Dec; 24(12):1739-1745. PubMed ID: 27436265
[TBL] [Abstract][Full Text] [Related]
22. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Guissart C; Latypova X; Rollier P; Khan TN; Stamberger H; McWalter K; Cho MT; Kjaergaard S; Weckhuysen S; Lesca G; Besnard T; Õunap K; Schema L; Chiocchetti AG; McDonald M; de Bellescize J; Vincent M; Van Esch H; Sattler S; Forghani I; Thiffault I; Freitag CM; Barbouth DS; Cadieux-Dion M; Willaert R; Guillen Sacoto MJ; Safina NP; Dubourg C; Grote L; Carré W; Saunders C; Pajusalu S; Farrow E; Boland A; Karlowicz DH; Deleuze JF; Wojcik MH; Pressman R; Isidor B; Vogels A; Van Paesschen W; Al-Gazali L; Al Shamsi AM; Claustres M; Pujol A; Sanders SJ; Rivier F; Leboucq N; Cogné B; Sasorith S; Sanlaville D; Retterer K; Odent S; Katsanis N; Bézieau S; Koenig M; Davis EE; Pasquier L; Küry S
Am J Hum Genet; 2018 May; 102(5):744-759. PubMed ID: 29656859
[TBL] [Abstract][Full Text] [Related]
23. New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.
Cappuccio G; Vitiello F; Casertano A; Fontana P; Genesio R; Bruzzese D; Ginocchio VM; Mormile A; Nitsch L; Andria G; Melis D
Ital J Pediatr; 2016 Apr; 42():39. PubMed ID: 27072107
[TBL] [Abstract][Full Text] [Related]
24. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Rauch A; Wieczorek D; Graf E; Wieland T; Endele S; Schwarzmayr T; Albrecht B; Bartholdi D; Beygo J; Di Donato N; Dufke A; Cremer K; Hempel M; Horn D; Hoyer J; Joset P; Röpke A; Moog U; Riess A; Thiel CT; Tzschach A; Wiesener A; Wohlleber E; Zweier C; Ekici AB; Zink AM; Rump A; Meisinger C; Grallert H; Sticht H; Schenck A; Engels H; Rappold G; Schröck E; Wieacker P; Riess O; Meitinger T; Reis A; Strom TM
Lancet; 2012 Nov; 380(9854):1674-82. PubMed ID: 23020937
[TBL] [Abstract][Full Text] [Related]
25. Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family.
Mir A; Sritharan K; Mittal K; Vasli N; Araujo C; Jamil T; Rafiq MA; Anwar Z; Mikhailov A; Rauf S; Mahmood H; Shakoor A; Ali S; So J; Naeem F; Ayub M; Vincent JB
Hum Genet; 2014 Aug; 133(8):975-84. PubMed ID: 24623383
[TBL] [Abstract][Full Text] [Related]
26. The oncogenic microRNA-21 inhibits the tumor suppressive activity of FBXO11 to promote tumorigenesis.
Yang CH; Pfeffer SR; Sims M; Yue J; Wang Y; Linga VG; Paulus E; Davidoff AM; Pfeffer LM
J Biol Chem; 2015 Mar; 290(10):6037-46. PubMed ID: 25589783
[TBL] [Abstract][Full Text] [Related]
27. De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
Palmer EE; Stuhlmann T; Weinert S; Haan E; Van Esch H; Holvoet M; Boyle J; Leffler M; Raynaud M; Moraine C; van Bokhoven H; Kleefstra T; Kahrizi K; Najmabadi H; Ropers HH; Delgado MR; Sirsi D; Golla S; Sommer A; Pietryga MP; Chung WK; Wynn J; Rohena L; Bernardo E; Hamlin D; Faux BM; Grange DK; Manwaring L; Tolmie J; Joss S; ; Cobben JM; Duijkers FAM; Goehringer JM; Challman TD; Hennig F; Fischer U; Grimme A; Suckow V; Musante L; Nicholl J; Shaw M; Lodh SP; Niu Z; Rosenfeld JA; Stankiewicz P; Jentsch TJ; Gecz J; Field M; Kalscheuer VM
Mol Psychiatry; 2018 Feb; 23(2):222-230. PubMed ID: 27550844
[TBL] [Abstract][Full Text] [Related]
28. De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Jansen S; Geuer S; Pfundt R; Brough R; Ghongane P; Herkert JC; Marco EJ; Willemsen MH; Kleefstra T; Hannibal M; Shieh JT; Lynch SA; Flinter F; FitzPatrick DR; Gardham A; Bernhard B; Ragge N; Newbury-Ecob R; Bernier R; Kvarnung M; Magnusson EA; Wessels MW; van Slegtenhorst MA; Monaghan KG; de Vries P; Veltman JA; ; Lord CJ; Vissers LE; de Vries BB
Am J Hum Genet; 2017 Apr; 100(4):650-658. PubMed ID: 28343630
[TBL] [Abstract][Full Text] [Related]
29. Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
Asadollahi R; Oneda B; Sheth F; Azzarello-Burri S; Baldinger R; Joset P; Latal B; Knirsch W; Desai S; Baumer A; Houge G; Andrieux J; Rauch A
Eur J Hum Genet; 2013 Oct; 21(10):1100-4. PubMed ID: 23403903
[TBL] [Abstract][Full Text] [Related]
30. Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome.
Au PYB; Huang L; Broley S; Gallagher L; Creede E; Lahey D; Ordorica S; Mina K; Boycott KM; Baynam G; Dyment DA
Eur J Med Genet; 2017 Jul; 60(7):359-364. PubMed ID: 28377321
[TBL] [Abstract][Full Text] [Related]
31. A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability.
Cobben JM; Weiss MM; van Dijk FS; De Reuver R; de Kruiff C; Pondaag W; Hennekam RC; Yntema HG
Eur J Med Genet; 2014; 57(11-12):636-8. PubMed ID: 25281490
[TBL] [Abstract][Full Text] [Related]
32. Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.
Cohen JS; Srivastava S; Farwell Hagman KD; Shinde DN; Huether R; Darcy D; Wallerstein R; Houge G; Berland S; Monaghan KG; Poretti A; Wilson AL; Chung WK; Fatemi A
Clin Genet; 2017 May; 91(5):697-707. PubMed ID: 27598823
[TBL] [Abstract][Full Text] [Related]
33. Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.
Prchalova D; Havlovicova M; Sterbova K; Stranecky V; Hancarova M; Sedlacek Z
BMC Med Genet; 2017 Jun; 18(1):62. PubMed ID: 28576131
[TBL] [Abstract][Full Text] [Related]
34. De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
Lugtenberg D; Reijnders MR; Fenckova M; Bijlsma EK; Bernier R; van Bon BW; Smeets E; Vulto-van Silfhout AT; Bosch D; Eichler EE; Mefford HC; Carvill GL; Bongers EM; Schuurs-Hoeijmakers JH; Ruivenkamp CA; Santen GW; van den Maagdenberg AM; Peeters-Scholte CM; Kuenen S; Verstreken P; Pfundt R; Yntema HG; de Vries PF; Veltman JA; Hoischen A; Gilissen C; de Vries BB; Schenck A; Kleefstra T; Vissers LE
Eur J Hum Genet; 2016 Aug; 24(8):1145-53. PubMed ID: 26757981
[TBL] [Abstract][Full Text] [Related]
35. De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
Grozeva D; Carss K; Spasic-Boskovic O; Parker MJ; Archer H; Firth HV; Park SM; Canham N; Holder SE; Wilson M; Hackett A; Field M; Floyd JA; ; Hurles M; Raymond FL
Am J Hum Genet; 2014 Apr; 94(4):618-24. PubMed ID: 24680889
[TBL] [Abstract][Full Text] [Related]
36. Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Vasileiou G; Vergarajauregui S; Endele S; Popp B; Büttner C; Ekici AB; Gerard M; Bramswig NC; Albrecht B; Clayton-Smith J; Morton J; Tomkins S; Low K; Weber A; Wenzel M; Altmüller J; Li Y; Wollnik B; Hoganson G; Plona MR; Cho MT; ; Thiel CT; Lüdecke HJ; Strom TM; Calpena E; Wilkie AOM; Wieczorek D; Engel FB; Reis A
Am J Hum Genet; 2018 Mar; 102(3):468-479. PubMed ID: 29429572
[TBL] [Abstract][Full Text] [Related]
37. De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
Caro-Llopis A; Rosello M; Orellana C; Oltra S; Monfort S; Mayo S; Martinez F
Pediatr Res; 2016 Dec; 80(6):809-815. PubMed ID: 27500536
[TBL] [Abstract][Full Text] [Related]
38. De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Cappuccio G; Sayou C; Tanno PL; Tisserant E; Bruel AL; Kennani SE; Sá J; Low KJ; Dias C; Havlovicová M; Hančárová M; Eichler EE; Devillard F; Moutton S; Van-Gils J; Dubourg C; Odent S; Gerard B; Piton A; Yamamoto T; Okamoto N; Firth H; Metcalfe K; Moh A; Chapman KA; Aref-Eshghi E; Kerkhof J; Torella A; Nigro V; Perrin L; Piard J; Le Guyader G; Jouan T; Thauvin-Robinet C; Duffourd Y; George-Abraham JK; Buchanan CA; Williams D; Kini U; Wilson K; ; Sousa SB; Hennekam RCM; Sadikovic B; Thevenon J; Govin J; Vitobello A; Brunetti-Pierri N
Genet Med; 2020 Nov; 22(11):1838-1850. PubMed ID: 32694869
[TBL] [Abstract][Full Text] [Related]
39. SCAF4-related syndromic intellectual disability.
Carvalho LML; Pinto CF; de Oliveira Scliar M; Otto PA; Krepischi ACV; Rosenberg C
Am J Med Genet A; 2023 Feb; 191(2):570-574. PubMed ID: 36333968
[TBL] [Abstract][Full Text] [Related]
40. ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder.
Cosemans N; Vandenhove L; Maljaars J; Van Esch H; Devriendt K; Baldwin A; Fryns JP; Noens I; Peeters H
Eur J Med Genet; 2018 Jul; 61(7):376-383. PubMed ID: 29427787
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
