371 related articles for article (PubMed ID: 24721225)
1. X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.
Philips AK; Sirén A; Avela K; Somer M; Peippo M; Ahvenainen M; Doagu F; Arvio M; Kääriäinen H; Van Esch H; Froyen G; Haas SA; Hu H; Kalscheuer VM; Järvelä I
Orphanet J Rare Dis; 2014 Apr; 9():49. PubMed ID: 24721225
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.
Mir A; Song Y; Lee H; Khanahmad H; Khorram E; Nasiri J; Tabatabaiefar MA
BMC Med Genomics; 2023 Oct; 16(1):239. PubMed ID: 37821930
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
Ibarluzea N; Hoz AB; Villate O; Llano I; Ocio I; Martí I; Guitart M; Gabau E; Andrade F; Gener B; Tejada MI
Genes (Basel); 2020 Jan; 11(1):. PubMed ID: 31906484
[TBL] [Abstract][Full Text] [Related]
9. RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.
Thevenon J; Michot C; Bole C; Nitschke P; Nizon M; Faivre L; Munnich A; Lyonnet S; Bonnefont JP; Portes VD; Amiel J
Am J Med Genet A; 2015 Aug; 167A(8):1908-12. PubMed ID: 25846674
[TBL] [Abstract][Full Text] [Related]
10. Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies.
Tejada MI; Ibarluzea N
Clin Genet; 2020 May; 97(5):677-687. PubMed ID: 31898314
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.
Bouazzi H; Thakur S; Trujillo C; Alwasiyah MK; Munnich A
Indian J Med Res; 2016 Jan; 143(1):43-8. PubMed ID: 26997013
[TBL] [Abstract][Full Text] [Related]
13. Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.
Gieldon L; Mackenroth L; Betcheva-Krajcir E; Rump A; Beck-Wödl S; Schallner J; Di Donato N; Schröck E; Tzschach A
Am J Med Genet A; 2017 Sep; 173(9):2545-2550. PubMed ID: 28777483
[TBL] [Abstract][Full Text] [Related]
14. Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.
Remerand G; Boespflug-Tanguy O; Tonduti D; Touraine R; Rodriguez D; Curie A; Perreton N; Des Portes V; Sarret C;
Dev Med Child Neurol; 2019 Dec; 61(12):1439-1447. PubMed ID: 31410843
[TBL] [Abstract][Full Text] [Related]
15. The genetic basis of DOORS syndrome: an exome-sequencing study.
Campeau PM; Kasperaviciute D; Lu JT; Burrage LC; Kim C; Hori M; Powell BR; Stewart F; Félix TM; van den Ende J; Wisniewska M; Kayserili H; Rump P; Nampoothiri S; Aftimos S; Mey A; Nair LD; Begleiter ML; De Bie I; Meenakshi G; Murray ML; Repetto GM; Golabi M; Blair E; Male A; Giuliano F; Kariminejad A; Newman WG; Bhaskar SS; Dickerson JE; Kerr B; Banka S; Giltay JC; Wieczorek D; Tostevin A; Wiszniewska J; Cheung SW; Hennekam RC; Gibbs RA; Lee BH; Sisodiya SM
Lancet Neurol; 2014 Jan; 13(1):44-58. PubMed ID: 24291220
[TBL] [Abstract][Full Text] [Related]
16. A novel missense mutation in the UBE2A gene causes intellectual disability in the large X-linked family.
Arslan Satılmış SB; Kurt EE; Akçay EP; Sazci A; Ceylan AC
J Gene Med; 2021 Feb; 23(2):e3307. PubMed ID: 33368912
[TBL] [Abstract][Full Text] [Related]
17. KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.
Gonçalves TF; Gonçalves AP; Fintelman Rodrigues N; dos Santos JM; Pimentel MM; Santos-Rebouças CB
Eur J Med Genet; 2014 Mar; 57(4):138-44. PubMed ID: 24583395
[TBL] [Abstract][Full Text] [Related]
18. Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J; Willemsen MH; van Bon BW; Kleefstra T; Yntema HG; Kroes T; Vulto-van Silfhout AT; Koolen DA; de Vries P; Gilissen C; del Rosario M; Hoischen A; Scheffer H; de Vries BB; Brunner HG; Veltman JA; Vissers LE
N Engl J Med; 2012 Nov; 367(20):1921-9. PubMed ID: 23033978
[TBL] [Abstract][Full Text] [Related]
19. Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.
van der Werf IM; Van Dijck A; Reyniers E; Helsmoortel C; Kumar AA; Kalscheuer VM; de Brouwer AP; Kleefstra T; van Bokhoven H; Mortier G; Janssens S; Vandeweyer G; Kooy RF
Gene; 2017 Mar; 605():92-98. PubMed ID: 27993705
[TBL] [Abstract][Full Text] [Related]
20. A missense mutation in the
Sheereen A; Alaamery M; Bawazeer S; Al Yafee Y; Massadeh S; Eyaid W
J Med Genet; 2017 Apr; 54(4):236-240. PubMed ID: 28143899
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
