198 related articles for article (PubMed ID: 34946860)
21. A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis.
Akçakaya NH; Salman B; Görmez Z; Tarkan Argüden Y; Çırakoğlu A; Çakmur R; Dönmez Çolakoğlu B; Hacıhanefioğlu S; Özbek U; Yapıcı Z; Uğur İşeri SA
Neuromolecular Med; 2019 Mar; 21(1):54-59. PubMed ID: 30612247
[TBL] [Abstract][Full Text] [Related]
22. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.
Giorgio E; Brussino A; Biamino E; Belligni EF; Bruselles A; Ciolfi A; Caputo V; Pizzi S; Calcia A; Di Gregorio E; Cavalieri S; Mancini C; Pozzi E; Ferrero M; Riberi E; Borelli I; Amoroso A; Ferrero GB; Tartaglia M; Brusco A
Eur J Paediatr Neurol; 2017 May; 21(3):475-484. PubMed ID: 28027854
[TBL] [Abstract][Full Text] [Related]
23. X-Linked intellectual disability update 2022.
Schwartz CE; Louie RJ; Toutain A; Skinner C; Friez MJ; Stevenson RE
Am J Med Genet A; 2023 Jan; 191(1):144-159. PubMed ID: 36300573
[TBL] [Abstract][Full Text] [Related]
24. X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.
Bissar-Tadmouri N; Donahue WL; Al-Gazali L; Nelson SF; Bayrak-Toydemir P; Kantarci S
Am J Med Genet A; 2014 Jan; 164A(1):164-9. PubMed ID: 24501762
[TBL] [Abstract][Full Text] [Related]
25. Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
Hackmann K; Rump A; Haas SA; Lemke JR; Fryns JP; Tzschach A; Wieczorek D; Albrecht B; Kuechler A; Ripperger T; Kobelt A; Oexle K; Tinschert S; Schrock E; Kalscheuer VM; Di Donato N
Am J Med Genet A; 2016 Jan; 170A(1):94-102. PubMed ID: 26358559
[TBL] [Abstract][Full Text] [Related]
26. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H; Haas SA; Chelly J; Van Esch H; Raynaud M; de Brouwer AP; Weinert S; Froyen G; Frints SG; Laumonnier F; Zemojtel T; Love MI; Richard H; Emde AK; Bienek M; Jensen C; Hambrock M; Fischer U; Langnick C; Feldkamp M; Wissink-Lindhout W; Lebrun N; Castelnau L; Rucci J; Montjean R; Dorseuil O; Billuart P; Stuhlmann T; Shaw M; Corbett MA; Gardner A; Willis-Owen S; Tan C; Friend KL; Belet S; van Roozendaal KE; Jimenez-Pocquet M; Moizard MP; Ronce N; Sun R; O'Keeffe S; Chenna R; van Bömmel A; Göke J; Hackett A; Field M; Christie L; Boyle J; Haan E; Nelson J; Turner G; Baynam G; Gillessen-Kaesbach G; Müller U; Steinberger D; Budny B; Badura-Stronka M; Latos-Bieleńska A; Ousager LB; Wieacker P; Rodríguez Criado G; Bondeson ML; Annerén G; Dufke A; Cohen M; Van Maldergem L; Vincent-Delorme C; Echenne B; Simon-Bouy B; Kleefstra T; Willemsen M; Fryns JP; Devriendt K; Ullmann R; Vingron M; Wrogemann K; Wienker TF; Tzschach A; van Bokhoven H; Gecz J; Jentsch TJ; Chen W; Ropers HH; Kalscheuer VM
Mol Psychiatry; 2016 Jan; 21(1):133-48. PubMed ID: 25644381
[TBL] [Abstract][Full Text] [Related]
27. Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes.
Niranjan TS; Skinner C; May M; Turner T; Rose R; Stevenson R; Schwartz CE; Wang T
PLoS One; 2015; 10(2):e0116454. PubMed ID: 25679214
[TBL] [Abstract][Full Text] [Related]
28. Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.
Londin ER; Adijanto J; Philp N; Novelli A; Vitale E; Perria C; Serra G; Alesi V; Surrey S; Fortina P
Am J Med Genet A; 2014 Sep; 164A(9):2294-9. PubMed ID: 24898194
[TBL] [Abstract][Full Text] [Related]
29. Next-generation sequencing in X-linked intellectual disability.
Tzschach A; Grasshoff U; Beck-Woedl S; Dufke C; Bauer C; Kehrer M; Evers C; Moog U; Oehl-Jaschkowitz B; Di Donato N; Maiwald R; Jung C; Kuechler A; Schulz S; Meinecke P; Spranger S; Kohlhase J; Seidel J; Reif S; Rieger M; Riess A; Sturm M; Bickmann J; Schroeder C; Dufke A; Riess O; Bauer P
Eur J Hum Genet; 2015 Nov; 23(11):1513-8. PubMed ID: 25649377
[TBL] [Abstract][Full Text] [Related]
30.
Selvan N; George S; Serajee FJ; Shaw M; Hobson L; Kalscheuer V; Prasad N; Levy SE; Taylor J; Aftimos S; Schwartz CE; Huq AM; Gecz J; Wells L
J Biol Chem; 2018 Jul; 293(27):10810-10824. PubMed ID: 29769320
[TBL] [Abstract][Full Text] [Related]
31. Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability.
Daoqi M; Guohong C; Yuan W; Zhixiao Y; Kaili X; Shiyue M
BMC Med Genet; 2020 Apr; 21(1):69. PubMed ID: 32245427
[TBL] [Abstract][Full Text] [Related]
32. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.
Harakalova M; van den Boogaard MJ; Sinke R; van Lieshout S; van Tuil MC; Duran K; Renkens I; Terhal PA; de Kovel C; Nijman IJ; van Haelst M; Knoers NV; van Haaften G; Kloosterman W; Hennekam RC; Cuppen E; Ploos van Amstel HK
J Med Genet; 2012 Aug; 49(8):539-43. PubMed ID: 22889856
[TBL] [Abstract][Full Text] [Related]
33. A novel variant of ST3GAL3 causes non-syndromic autosomal recessive intellectual disability in Iranian patients.
Farajollahi Z; Razmara E; Heidari E; Jafarinia E; Garshasbi M
J Gene Med; 2020 Nov; 22(11):e3253. PubMed ID: 32666583
[TBL] [Abstract][Full Text] [Related]
34. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
Moortgat S; Désir J; Benoit V; Boulanger S; Pendeville H; Nassogne MC; Lederer D; Maystadt I
Am J Med Genet A; 2016 Nov; 170(11):2927-2933. PubMed ID: 27333055
[TBL] [Abstract][Full Text] [Related]
35. Novel USP9X variant associated with syndromic intellectual disability in a female: A case study and review.
Meira JGC; Magalhães BS; Ferreira IBB; Tavares DF; Kobayashi GS; Leão EKEA
Am J Med Genet A; 2021 May; 185(5):1569-1574. PubMed ID: 33638286
[TBL] [Abstract][Full Text] [Related]
36. Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability.
Zhu D; Wang M; Xu Y; Zhang J; Yang F; Yang Z
Neurogenetics; 2022 Jul; 23(3):179-185. PubMed ID: 35391588
[TBL] [Abstract][Full Text] [Related]
37. Renpenning syndrome in an Indian patient.
Masih S; Moirangthem A; Phadke SR
Am J Med Genet A; 2020 Feb; 182(2):293-295. PubMed ID: 31840915
[TBL] [Abstract][Full Text] [Related]
38. HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.
Friez MJ; Brooks SS; Stevenson RE; Field M; Basehore MJ; Adès LC; Sebold C; McGee S; Saxon S; Skinner C; Craig ME; Murray L; Simensen RJ; Yap YY; Shaw MA; Gardner A; Corbett M; Kumar R; Bosshard M; van Loon B; Tarpey PS; Abidi F; Gecz J; Schwartz CE
BMJ Open; 2016 Apr; 6(4):e009537. PubMed ID: 27130160
[TBL] [Abstract][Full Text] [Related]
39. The pathogenicity of genomic/genetic variant of X-chromosomal genes in males with intellectual disability.
Peng JP; Liu F; Xie H; Chen XL
Yi Chuan; 2017 Jun; 39(6):455-468. PubMed ID: 28903905
[TBL] [Abstract][Full Text] [Related]
40. Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.
Srivastava S; Niranjan T; May MM; Tarpey P; Allen W; Hackett A; Jouk PS; Raymond L; Briault S; Skinner C; Toutain A; Gecz J; Heath W; Stevenson RE; Schwartz CE; Wang T
Mol Genet Genomic Med; 2019 Apr; 7(4):e00569. PubMed ID: 30729724
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
