199 related articles for article (PubMed ID: 29220674)
21. Novel SNX13 Frameshift Variant in an Individual with Developmental Delay.
Tao X; Che Y; Li C; Ruan W; Xu J; Yu Y; Yang F; Wang J; Li H
Cytogenet Genome Res; 2021; 161(10-11):514-519. PubMed ID: 34879376
[TBL] [Abstract][Full Text] [Related]
22. The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant.
Ogura Y; Uehara T; Ujibe K; Yoshihashi H; Yamada M; Suzuki H; Takenouchi T; Kosaki K; Hirata H
Am J Med Genet A; 2022 Apr; 188(4):1184-1192. PubMed ID: 35018717
[TBL] [Abstract][Full Text] [Related]
23. YWHAZ variation causes intellectual disability and global developmental delay with brain malformation.
Wan RP; Liu ZG; Huang XF; Kwan P; Li YP; Qu XC; Ye XG; Chen FY; Zhang DW; He MF; Wang J; Mao YL; Qiao JD
Hum Mol Genet; 2023 Jan; 32(3):462-472. PubMed ID: 36001342
[TBL] [Abstract][Full Text] [Related]
24. Prenatal diagnosis of Baraitser - Winter syndrome using exome sequencing: Clinical report and review of literature.
Papamichail M; Manolakos E; Papoulidis I; Siomou E; Eleftheriades A; Marinakis I; Tzanakis K; Sartsidis A; Vlahos NF; Eleftheriades M
Eur J Med Genet; 2021 Nov; 64(11):104318. PubMed ID: 34450357
[TBL] [Abstract][Full Text] [Related]
25. Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization.
Mariano V; Kanellopoulos AK; Ricci C; Di Marino D; Borrie SC; Dupraz S; Bradke F; Achsel T; Legius E; Odent S; Billuart P; Bienvenu T; Bagni C
Biol Psychiatry; 2024 Jan; 95(2):161-174. PubMed ID: 37704042
[TBL] [Abstract][Full Text] [Related]
26. TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Whitman MC; Barry BJ; Robson CD; Facio FM; Van Ryzin C; Chan WM; Lehky TJ; Thurm A; Zalewski C; King KA; Brewer C; Almpani K; Lee JS; Delaney A; FitzGibbon EJ; Lee PR; Toro C; Paul SM; Abdul-Rahman OA; Webb BD; Jabs EW; Moller HU; Larsen DA; Antony JH; Troedson C; Ma A; Ragnhild G; Wirgenes KV; Tham E; Kvarnung M; Maarup TJ; MacKinnon S; Hunter DG; Collins FS; Manoli I; Engle EC
Hum Genet; 2021 Dec; 140(12):1709-1731. PubMed ID: 34652576
[TBL] [Abstract][Full Text] [Related]
27. Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Chowdhury F; Wang L; Al-Raqad M; Amor DJ; Baxová A; Bendová Š; Biamino E; Brusco A; Caluseriu O; Cox NJ; Froukh T; Gunay-Aygun M; Hančárová M; Haynes D; Heide S; Hoganson G; Kaname T; Keren B; Kosaki K; Kubota K; Lemons JM; Magriña MA; Mark PR; McDonald MT; Montgomery S; Morley GM; Ohnishi H; Okamoto N; Rodriguez-Buritica D; Rump P; Sedláček Z; Schatz K; Streff H; Uehara T; Walia JS; Wheeler PG; Wiesener A; Zweier C; Kawakami K; Wentzensen IM; Lalani SR; Siu VM; Bi W; Balci TB
Genet Med; 2021 Jul; 23(7):1234-1245. PubMed ID: 33824499
[TBL] [Abstract][Full Text] [Related]
28. The Ross Procedure in a Case of Baraitser-Winter Syndrome: A Case Report.
Alotabi RA; Alamri OZ; Alenezi SE; Suliman I
Cureus; 2024 Jan; 16(1):e52331. PubMed ID: 38361693
[TBL] [Abstract][Full Text] [Related]
29. Nucleotide- and Protein-Dependent Functions of
Sundby LJ; Southern WM; Hawbaker KM; Trujillo JM; Perrin BJ; Ervasti JM
Mol Biol Cell; 2022 Aug; 33(9):ar77. PubMed ID: 35594181
[TBL] [Abstract][Full Text] [Related]
30. A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia.
Kuroda Y; Saito Y; Enomoto Y; Naruto T; Kurosawa K
Clin Dysmorphol; 2024 Apr; 33(2):75-78. PubMed ID: 38348958
[No Abstract] [Full Text] [Related]
31. Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency.
Levy T; Pichardo T; Silver H; Lerman B; Zweifach J; Halpern D; Siper PM; Kolevzon A; Buxbaum JD
Hum Genet; 2023 Sep; 142(9):1385-1394. PubMed ID: 37454340
[TBL] [Abstract][Full Text] [Related]
32. The mouse model of intellectual disability by ZBTB18/RP58 haploinsufficiency shows cognitive dysfunction with synaptic impairment.
Hirai S; Miwa H; Shimbo H; Nakajima K; Kondo M; Tanaka T; Ohtaka-Maruyama C; Hirai S; Okado H
Mol Psychiatry; 2023 Jun; 28(6):2370-2381. PubMed ID: 36721027
[TBL] [Abstract][Full Text] [Related]
33. A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.
Rainger J; Williamson KA; Soares DC; Truch J; Kurian D; Gillessen-Kaesbach G; Seawright A; Prendergast J; Halachev M; Wheeler A; McTeir L; Gill AC; van Heyningen V; Davey MG; ; FitzPatrick DR
Hum Mutat; 2017 Aug; 38(8):942-946. PubMed ID: 28493397
[TBL] [Abstract][Full Text] [Related]
34. Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.
Ghiselli S; Parmeggiani G; Zambonini G; Cuda D
J Clin Med; 2024 Mar; 13(5):. PubMed ID: 38592426
[No Abstract] [Full Text] [Related]
35. A pan-cancer analysis of the prognostic and immunological role of β-actin (ACTB) in human cancers.
Gu Y; Tang S; Wang Z; Cai L; Lian H; Shen Y; Zhou Y
Bioengineered; 2021 Dec; 12(1):6166-6185. PubMed ID: 34486492
[TBL] [Abstract][Full Text] [Related]
36. A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (
Kooblall KG; Stevenson M; Stewart M; Harris L; Zalucki O; Dewhurst H; Butterfield N; Leng H; Hough TA; Ma D; Siow B; Potter P; Cox RD; Brown SDM; Horwood N; Wright B; Lockstone H; Buck D; Vincent TL; Hannan FM; Bassett JHD; Williams GR; Lines KE; Piper M; Wells S; Teboul L; Hennekam RC; Thakker RV
JBMR Plus; 2023 Jun; 7(6):e10739. PubMed ID: 37283649
[TBL] [Abstract][Full Text] [Related]
37. Haploinsufficiency of the mouse Tshz3 gene leads to kidney defects.
Sanchez-Martin I; Magalhães P; Ranjzad P; Fatmi A; Richard F; Manh TPV; Saurin AJ; Feuillet G; Denis C; Woolf AS; Schanstra JP; Zürbig P; Caubit X; Fasano L
Hum Mol Genet; 2022 Jun; 31(12):1921-1945. PubMed ID: 34919690
[TBL] [Abstract][Full Text] [Related]
38. NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay.
Muffels IJJ; Wiame E; Fuchs SA; Massink MPG; Rehmann H; Musch JLI; Van Haaften G; Vertommen D; van Schaftingen E; van Hasselt PM
Brain Commun; 2021; 3(4):fcab256. PubMed ID: 34805998
[TBL] [Abstract][Full Text] [Related]
39. Deletion in the BCL11B Gene and Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-cell Abnormalities - a Case Report.
Roa-Bautista A; López-Duarte M; Paz-Gandiaga N; San Segundo Arribas D; Ocejo-Vinyals JG
EJIFCC; 2022 Dec; 33(4):325-333. PubMed ID: 36605301
[TBL] [Abstract][Full Text] [Related]
40. Heterogeneous nuclear ribonucleoprotein U (HNRNPU) safeguards the developing mouse cortex.
Sapir T; Kshirsagar A; Gorelik A; Olender T; Porat Z; Scheffer IE; Goldstein DB; Devinsky O; Reiner O
Nat Commun; 2022 Jul; 13(1):4209. PubMed ID: 35864088
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]