222 related articles for article (PubMed ID: 25846674)
1. 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]
2. A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.
Zanni G; Kalscheuer VM; Friedrich A; Barresi S; Alfieri P; Di Capua M; Haas SA; Piccini G; Karl T; Klauck SM; Bellacchio E; Emma F; Cappa M; Bertini E; Breitenbach-Koller L
Hum Mutat; 2015 Dec; 36(12):1155-8. PubMed ID: 26290468
[TBL] [Abstract][Full Text] [Related]
3. A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature.
Bourque DK; Hartley T; Nikkel SM; Pohl D; Tétreault M; Kernohan KD; ; Dyment DA
Eur J Med Genet; 2018 Feb; 61(2):89-93. PubMed ID: 29066376
[TBL] [Abstract][Full Text] [Related]
4. A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.
Brooks SS; Wall AL; Golzio C; Reid DW; Kondyles A; Willer JR; Botti C; Nicchitta CV; Katsanis N; Davis EE
Genetics; 2014 Oct; 198(2):723-33. PubMed ID: 25316788
[TBL] [Abstract][Full Text] [Related]
5. A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
Preiksaitiene E; Caro A; Benušienė E; Oltra S; Orellana C; Morkūnienė A; Roselló MP; Kasnauskiene J; Monfort S; Kučinskas V; Mayo S; Martinez F
Am J Med Genet A; 2015 Jun; 167(6):1342-8. PubMed ID: 25900314
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
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. Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis.
Gandomi SK; Farwell Gonzalez KD; Parra M; Shahmirzadi L; Mancuso J; Pichurin P; Temme R; Dugan S; Zeng W; Tang S
J Genet Couns; 2014 Jun; 23(3):289-98. PubMed ID: 24306141
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.
Cappuccio G; De Bernardi ML; Morlando A; Peduto C; Scala I; Pinelli M; Bellacchio E; Gallo FG; Magli A; Plaitano C; Serrano M; Pías L; Català J; Bolasell M; Torella A; Nigro V; Zanni G; Brunetti-Pierri N
Am J Med Genet A; 2022 Oct; 188(10):3032-3040. PubMed ID: 35876338
[TBL] [Abstract][Full Text] [Related]
14. Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.
Moortgat S; Lederer D; Deprez M; Buzatu M; Clapuyt P; Boulanger S; Benoit V; Mary S; Guichet A; Ziegler A; Colin E; Bonneau D; Maystadt I
Eur J Med Genet; 2018 Aug; 61(8):442-450. PubMed ID: 29510240
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
Mol Autism; 2019; 10():35. PubMed ID: 31649809
[TBL] [Abstract][Full Text] [Related]
18. A novel UBE2A mutation in a Chinese family with X-linked intellectual disability.
Jia W; Hu Q; Wu Y; Wang J; Liu Z; Zhang X
J Gene Med; 2020 Aug; 22(8):e3191. PubMed ID: 32222108
[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. X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene.
Ciammola A; Carrera P; Di Fonzo A; Sassone J; Villa R; Poletti B; Ferrari M; Girotti F; Monfrini E; Buongarzone G; Silani V; Cinnante CM; Mignogna ML; D'Adamo P; Bonati MT
Parkinsonism Relat Disord; 2017 Nov; 44():142-146. PubMed ID: 28851564
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
