400 related articles for article (PubMed ID: 34065499)
21. Splicing mutations in inherited retinal diseases.
Weisschuh N; Buena-Atienza E; Wissinger B
Prog Retin Eye Res; 2021 Jan; 80():100874. PubMed ID: 32553897
[TBL] [Abstract][Full Text] [Related]
22. An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome.
Boschann F; Fischer-Zirnsak B; Wienker TF; Holtgrewe M; Seelow D; Eichhorn B; Döhnert S; Fahsold R; Horn D; Graul-Neumann LM
Eur J Med Genet; 2020 Sep; 63(9):103973. PubMed ID: 32505691
[TBL] [Abstract][Full Text] [Related]
23. Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy.
Pierrache LHM; Messchaert M; Thiadens AAHJ; Haer-Wigman L; de Jong-Hesse Y; van Zelst-Stams WAG; Collin RWJ; Klaver CCW; van den Born LI
Invest Ophthalmol Vis Sci; 2019 May; 60(6):2049-2063. PubMed ID: 31074760
[TBL] [Abstract][Full Text] [Related]
24. Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS.
Niba ETE; Nishida A; Tran VK; Vu DC; Matsumoto M; Awano H; Lee T; Takeshima Y; Nishio H; Matsuo M
J Hum Genet; 2017 Apr; 62(5):531-537. PubMed ID: 28100912
[TBL] [Abstract][Full Text] [Related]
25. Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy.
Mavillard F; Servián-Morilla E; Rivas E; Paradas C; Cabrera-Serrano M
Clin Genet; 2021 Jul; 100(1):106-110. PubMed ID: 33818761
[TBL] [Abstract][Full Text] [Related]
26. A mild form of POC1B-associated retinal dystrophy with relatively preserved cone system function.
Hayashi T; Mizobuchi K; Kameya S; Ueno S; Matsuura T; Nakano T
Doc Ophthalmol; 2023 Aug; 147(1):59-70. PubMed ID: 37227616
[TBL] [Abstract][Full Text] [Related]
27. Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration.
Cehajic-Kapetanovic J; Birtel J; McClements ME; Shanks ME; Clouston P; Downes SM; Charbel Issa P; MacLaren RE
JAMA Netw Open; 2019 Jun; 2(6):e195752. PubMed ID: 31199449
[TBL] [Abstract][Full Text] [Related]
28. A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome.
Hiraide T; Shimizu K; Okumura Y; Miyamoto S; Nakashima M; Ogata T; Saitsu H
J Hum Genet; 2023 Jul; 68(7):499-505. PubMed ID: 36894704
[TBL] [Abstract][Full Text] [Related]
29. Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.
Lee M; Roos P; Sharma N; Atalar M; Evans TA; Pellicore MJ; Davis E; Lam AN; Stanley SE; Khalil SE; Solomon GM; Walker D; Raraigh KS; Vecchio-Pagan B; Armanios M; Cutting GR
Am J Hum Genet; 2017 May; 100(5):751-765. PubMed ID: 28475858
[TBL] [Abstract][Full Text] [Related]
30. Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.
Albert S; Garanto A; Sangermano R; Khan M; Bax NM; Hoyng CB; Zernant J; Lee W; Allikmets R; Collin RWJ; Cremers FPM
Am J Hum Genet; 2018 Apr; 102(4):517-527. PubMed ID: 29526278
[TBL] [Abstract][Full Text] [Related]
31. Comprehensive characterisation of intronic mis-splicing mutations in human cancers.
Jung H; Lee KS; Choi JK
Oncogene; 2021 Feb; 40(7):1347-1361. PubMed ID: 33420369
[TBL] [Abstract][Full Text] [Related]
32. Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.
Bax NM; Sangermano R; Roosing S; Thiadens AA; Hoefsloot LH; van den Born LI; Phan M; Klevering BJ; Westeneng-van Haaften C; Braun TA; Zonneveld-Vrieling MN; de Wijs I; Mutlu M; Stone EM; den Hollander AI; Klaver CC; Hoyng CB; Cremers FP
Hum Mutat; 2015 Jan; 36(1):43-7. PubMed ID: 25363634
[TBL] [Abstract][Full Text] [Related]
33. The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria.
Homolova K; Zavadakova P; Doktor TK; Schroeder LD; Kozich V; Andresen BS
Hum Mutat; 2010 Apr; 31(4):437-44. PubMed ID: 20120036
[TBL] [Abstract][Full Text] [Related]
34. Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family.
Jin X; Chen L; Wang D; Zhang Y; Chen Z; Huang H
Ophthalmic Genet; 2018 Jun; 39(3):300-306. PubMed ID: 29377742
[TBL] [Abstract][Full Text] [Related]
35. Novel recessive cone-rod dystrophy caused by POC1B mutation.
Durlu YK; Köroğlu Ç; Tolun A
JAMA Ophthalmol; 2014 Oct; 132(10):1185-91. PubMed ID: 24945461
[TBL] [Abstract][Full Text] [Related]
36. A homozygous
Peturson AC; Noel NCL; MacDonald IM
Ophthalmic Genet; 2021 Jun; 42(3):349-353. PubMed ID: 33657974
[No Abstract] [Full Text] [Related]
37. Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.
Dvaladze A; Tavares E; Di Scipio M; Nimmo G; Grudzinska-Pechhacker MK; Paton T; Tumber A; Li S; Eileen C; Ertl-Wagner B; Mamak E; Hoffmann G; Marshall CR; Haas D; Mayatepek E; Schulze A; Heon E; Vincent A
Clin Genet; 2022 Dec; 102(6):524-529. PubMed ID: 35916082
[TBL] [Abstract][Full Text] [Related]
38. Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.
Ma SL; Vega-Warner V; Gillies C; Sampson MG; Kher V; Sethi SK; Otto EA
PLoS One; 2015; 10(6):e0130729. PubMed ID: 26107949
[TBL] [Abstract][Full Text] [Related]
39. Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.
Fadaie Z; Khan M; Del Pozo-Valero M; Cornelis SS; Ayuso C; Cremers FPM; Roosing S; The Abca Study Group
Hum Mutat; 2019 Dec; 40(12):2365-2376. PubMed ID: 31397521
[TBL] [Abstract][Full Text] [Related]
40. Early-Onset X-Linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene.
Shifera AS; Kay CN
Ophthalmic Genet; 2015; 36(3):251-6. PubMed ID: 24428633
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]