140 related articles for article (PubMed ID: 38037881)
1. A novel missense variant in OTUD5 causes X-linked multiple congenital anomalies-neurodevelopmental syndrome.
Tian W; Li H; Li Y; Guo J; Wang H; Yang B; Li P; Cui X; Liu L
Mol Genet Genomic Med; 2024 Jan; 12(1):e2325. PubMed ID: 38037881
[TBL] [Abstract][Full Text] [Related]
2.
Saida K; Fukuda T; Scott DA; Sengoku T; Ogata K; Nicosia A; Hernandez-Garcia A; Lalani SR; Azamian MS; Streff H; Liu P; Dai H; Mizuguchi T; Miyatake S; Asahina M; Ogata T; Miyake N; Matsumoto N
Front Cell Dev Biol; 2021; 9():631428. PubMed ID: 33748114
[TBL] [Abstract][Full Text] [Related]
3. An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene.
Tripolszki K; Sasaki E; Hotakainen R; Kassim AH; Pereira C; Rolfs A; Bauer P; Reardon W; Bertoli-Avella AM
Clin Genet; 2021 Feb; 99(2):303-308. PubMed ID: 33131077
[TBL] [Abstract][Full Text] [Related]
4. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M; Krawitz P; Hecht J; Hupalowska A; Miaczynska M; Marschner K; Schlack C; Emmerich D; Kobus K; Kornak U; Robinson PN; Plecko B; Grangl G; Uhrig S; Mundlos S; Horn D
Eur J Hum Genet; 2015 May; 23(5):633-8. PubMed ID: 24916641
[TBL] [Abstract][Full Text] [Related]
5. Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review.
Zhao A; Zhou R; Gu Q; Liu M; Zhang B; Huang J; Yang B; Yao R; Wang J; Lv H; Wang J; Shen Y; Wang H; Chen X
Clin Chim Acta; 2021 Dec; 523():10-18. PubMed ID: 34478686
[TBL] [Abstract][Full Text] [Related]
6. Low-level germline mosaicism of a novel SMARCA2 missense variant: Expanding the phenotypic spectrum and mode of genetic transmission.
Pan N; Chen S; Cai X; Li J; Yu T; Huang HF; Zhang J; Xu C
Mol Genet Genomic Med; 2021 Sep; 9(9):e1763. PubMed ID: 34296532
[TBL] [Abstract][Full Text] [Related]
7. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
Douglas G; Cho MT; Telegrafi A; Winter S; Carmichael J; Zackai EH; Deardorff MA; Harr M; Williams L; Psychogios A; Erwin AL; Grebe T; Retterer K; Juusola J
Am J Med Genet A; 2018 Sep; 176(9):1845-1851. PubMed ID: 30055086
[TBL] [Abstract][Full Text] [Related]
8. Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies.
Tolmacheva E; Bolshakova AS; Shubina J; Rogacheva MS; Ekimov AN; Podurovskaya JL; Burov AA; Rebrikov DV; Bychenko VG; Trofimov DY; Sukhikh GT
BMC Med Genomics; 2024 May; 17(1):130. PubMed ID: 38745205
[TBL] [Abstract][Full Text] [Related]
9. Koolen-de Vries syndrome: A de novo missense KANSL1 variant.
Yimenicioglu S; Kocaaga A
Clin Neurol Neurosurg; 2022 Nov; 222():107444. PubMed ID: 36150256
[TBL] [Abstract][Full Text] [Related]
10. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Cheng H; Dharmadhikari AV; Varland S; Ma N; Domingo D; Kleyner R; Rope AF; Yoon M; Stray-Pedersen A; Posey JE; Crews SR; Eldomery MK; Akdemir ZC; Lewis AM; Sutton VR; Rosenfeld JA; Conboy E; Agre K; Xia F; Walkiewicz M; Longoni M; High FA; van Slegtenhorst MA; Mancini GMS; Finnila CR; van Haeringen A; den Hollander N; Ruivenkamp C; Naidu S; Mahida S; Palmer EE; Murray L; Lim D; Jayakar P; Parker MJ; Giusto S; Stracuzzi E; Romano C; Beighley JS; Bernier RA; Küry S; Nizon M; Corbett MA; Shaw M; Gardner A; Barnett C; Armstrong R; Kassahn KS; Van Dijck A; Vandeweyer G; Kleefstra T; Schieving J; Jongmans MJ; de Vries BBA; Pfundt R; Kerr B; Rojas SK; Boycott KM; Person R; Willaert R; Eichler EE; Kooy RF; Yang Y; Wu JC; Lupski JR; Arnesen T; Cooper GM; Chung WK; Gecz J; Stessman HAF; Meng L; Lyon GJ
Am J Hum Genet; 2018 May; 102(5):985-994. PubMed ID: 29656860
[TBL] [Abstract][Full Text] [Related]
11. Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report.
Qian Y; Wu B; Lu Y; Zhou W; Wang S; Wang H
BMC Med Genet; 2020 Feb; 21(1):31. PubMed ID: 32050918
[TBL] [Abstract][Full Text] [Related]
12. A Novel Missense Variant in the Gene
Yan L; Shen R; Cao Z; Han C; Zhang Y; Liu Y; Yang X; Xie M; Li H
Biomed Res Int; 2021; 2021():6661860. PubMed ID: 33628804
[TBL] [Abstract][Full Text] [Related]
13. De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.
Strom SP; Lozano R; Lee H; Dorrani N; Mann J; O'Lague PF; Mans N; Deignan JL; Vilain E; Nelson SF; Grody WW; Quintero-Rivera F
BMC Med Genet; 2014 May; 15():49. PubMed ID: 24886118
[TBL] [Abstract][Full Text] [Related]
14. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K; Lazar HP; Kurolap A; Martinez AF; Paperna T; Cohen L; Smeland MF; Whalen S; Heide S; Keren B; Terhal P; Irving M; Takaku M; Roberts JD; Petrovich RM; Schrier Vergano SA; Kenney A; Hove H; DeChene E; Quinonez SC; Colin E; Ziegler A; Rumple M; Jain M; Monteil D; Roeder ER; Nugent K; van Haeringen A; Gambello M; Santani A; Medne L; Krock B; Skraban CM; Zackai EH; Dubbs HA; Smol T; Ghoumid J; Parker MJ; Wright M; Turnpenny P; Clayton-Smith J; Metcalfe K; Kurumizaka H; Gelb BD; Baris Feldman H; Campeau PM; Muenke M; Wade PA; Lachlan K
Genet Med; 2020 Feb; 22(2):389-397. PubMed ID: 31388190
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability.
Yi Z; Zhang Y; Song Z; Pan H; Yang C; Li F; Xue J; Qu Z
Ital J Pediatr; 2020 Jul; 46(1):95. PubMed ID: 32646507
[TBL] [Abstract][Full Text] [Related]
17. PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.
Low KJ; Ansari M; Abou Jamra R; Clarke A; El Chehadeh S; FitzPatrick DR; Greenslade M; Henderson A; Hurst J; Keller K; Kuentz P; Prescott T; Roessler F; Selmer KK; Schneider MC; Stewart F; Tatton-Brown K; Thevenon J; Vigeland MD; Vogt J; Willems M; Zonana J; Study DD; Smithson SF
Eur J Hum Genet; 2017 May; 25(5):552-559. PubMed ID: 28327570
[TBL] [Abstract][Full Text] [Related]
18. Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
Alves RM; Uva P; Veiga MF; Oppo M; Zschaber FCR; Porcu G; Porto HP; Persico I; Onano S; Cuccuru G; Atzeni R; Vieira LCN; Pires MVA; Cucca F; Toralles MBP; Angius A; Crisponi L
BMC Med Genet; 2019 Jan; 20(1):16. PubMed ID: 30642272
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
