412 related articles for article (PubMed ID: 30925032)
1. The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
Abu Diab A; AlTalbishi A; Rosin B; Kanaan M; Kamal L; Swaroop A; Chowers I; Banin E; Sharon D; Khateb S
Acta Ophthalmol; 2019 Sep; 97(6):e877-e886. PubMed ID: 30925032
[TBL] [Abstract][Full Text] [Related]
2. Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.
Prokudin I; Li D; He S; Guo Y; Goodwin L; Wilson M; Rose L; Tian L; Chen Y; Liang J; Keating B; Xu X; Jamieson RV; Hakonarson H
Clin Exp Ophthalmol; 2015 Mar; 43(2):132-8. PubMed ID: 25060287
[TBL] [Abstract][Full Text] [Related]
3. Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
Patel N; Aldahmesh MA; Alkuraya H; Anazi S; Alsharif H; Khan AO; Sunker A; Al-Mohsen S; Abboud EB; Nowilaty SR; Alowain M; Al-Zaidan H; Al-Saud B; Alasmari A; Abdel-Salam GM; Abouelhoda M; Abdulwahab FM; Ibrahim N; Naim E; Al-Younes B; E AlMostafa A; AlIssa A; Hashem M; Buzovetsky O; Xiong Y; Monies D; Altassan N; Shaheen R; Al-Hazzaa SA; Alkuraya FS
Genet Med; 2016 Jun; 18(6):554-62. PubMed ID: 26355662
[TBL] [Abstract][Full Text] [Related]
4. Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.
Astuti GD; Arno G; Hull S; Pierrache L; Venselaar H; Carss K; Raymond FL; Collin RW; Faradz SM; van den Born LI; Webster AR; Cremers FP
Invest Ophthalmol Vis Sci; 2016 Nov; 57(14):6180-6187. PubMed ID: 27842159
[TBL] [Abstract][Full Text] [Related]
5. Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.
Katagiri S; Hayashi T; Yoshitake K; Akahori M; Ikeo K; Gekka T; Tsuneoka H; Iwata T
Ophthalmic Genet; 2016; 37(1):68-75. PubMed ID: 25113443
[TBL] [Abstract][Full Text] [Related]
6. Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
Coppieters F; Van Schil K; Bauwens M; Verdin H; De Jaegher A; Syx D; Sante T; Lefever S; Abdelmoula NB; Depasse F; Casteels I; de Ravel T; Meire F; Leroy BP; De Baere E
Genet Med; 2014 Sep; 16(9):671-80. PubMed ID: 24625443
[TBL] [Abstract][Full Text] [Related]
7. Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
Coppieters F; Ascari G; Dannhausen K; Nikopoulos K; Peelman F; Karlstetter M; Xu M; Brachet C; Meunier I; Tsilimbaris MK; Tsika C; Blazaki SV; Vergult S; Farinelli P; Van Laethem T; Bauwens M; De Bruyne M; Chen R; Langmann T; Sui R; Meire F; Rivolta C; Hamel CP; Leroy BP; De Baere E
Am J Hum Genet; 2016 Aug; 99(2):470-80. PubMed ID: 27486781
[TBL] [Abstract][Full Text] [Related]
8. Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.
Arno G; Hull S; Carss K; Dev-Borman A; Chakarova C; Bujakowska K; van den Born LI; Robson AG; Holder GE; Michaelides M; Cremers FP; Pierce E; Raymond FL; Moore AT; Webster AR
Invest Ophthalmol Vis Sci; 2016 Sep; 57(11):4806-13. PubMed ID: 27623334
[TBL] [Abstract][Full Text] [Related]
9. Identification of Novel Genomic-Variant Patterns of OR56A5, OR52L1, and CTSD in Retinitis Pigmentosa Patients by Whole-Exome Sequencing.
Lin TY; Chang YC; Hsiao YJ; Chien Y; Jheng YC; Wu JR; Ching LJ; Hwang DK; Hsu CC; Lin TC; Chou YB; Huang YM; Chen SJ; Yang YP; Tsai PH
Int J Mol Sci; 2021 May; 22(11):. PubMed ID: 34070492
[TBL] [Abstract][Full Text] [Related]
10. Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families.
Kastner S; Thiemann IJ; Dekomien G; Petrasch-Parwez E; Schreiber S; Akkad DA; Gerding WM; Hoffjan S; Günes S; Günes S; Bagci H; Epplen JT
Invest Ophthalmol Vis Sci; 2015 Dec; 56(13):8045-53. PubMed ID: 26720455
[TBL] [Abstract][Full Text] [Related]
11. Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families.
Tehreem R; Chen I; Shah MR; Li Y; Khan MA; Afshan K; Chen R; Firasat S
Genes (Basel); 2022 Sep; 13(9):. PubMed ID: 36140798
[TBL] [Abstract][Full Text] [Related]
12. Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.
Azab B; Dardas Z; Aburizeg D; Al-Bdour M; Abu-Ameerh M; Saleh T; Barham R; Maswadi R; Ababneh NA; Alsalem M; Zouk H; Amr S; Awidi A
Genes (Basel); 2021 Apr; 12(4):. PubMed ID: 33921607
[TBL] [Abstract][Full Text] [Related]
13. Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies.
Salmaninejad A; Bedoni N; Ravesh Z; Quinodoz M; Shoeibi N; Mojarrad M; Pasdar A; Rivolta C
Sci Rep; 2020 Nov; 10(1):19413. PubMed ID: 33173045
[TBL] [Abstract][Full Text] [Related]
14. [Comparison study of whole exome sequencing and targeted panel sequencing in molecular diagnosis of inherited retinal dystrophies].
Liu XZ; Li YY; Yang LP
Beijing Da Xue Xue Bao Yi Xue Ban; 2020 Oct; 52(5):836-844. PubMed ID: 33047716
[TBL] [Abstract][Full Text] [Related]
15. Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.
Kousal B; Dudakova L; Gaillyova R; Hejtmankova M; Diblik P; Michaelides M; Liskova P
Graefes Arch Clin Exp Ophthalmol; 2016 Sep; 254(9):1833-9. PubMed ID: 27113771
[TBL] [Abstract][Full Text] [Related]
16. CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.
Enomoto Y; Tsurusaki Y; Yokoi T; Abe-Hatano C; Ida K; Naruto T; Mitsui J; Tsuji S; Morishita S; Kurosawa K
Eur J Med Genet; 2020 Jan; 63(1):103610. PubMed ID: 30602132
[TBL] [Abstract][Full Text] [Related]
17. Novel CERKL variant in consanguineous Jordanian pedigrees with inherited retinal dystrophies.
Azab B; Barham R; Ali D; Dardas Z; Rashdan L; Bijawi M; Maswadi R; Awidi A; Jafar H; Abu-Ameerh M; Al-Bdour M; Amr S; Awidi A
Can J Ophthalmol; 2019 Feb; 54(1):51-59. PubMed ID: 30851774
[TBL] [Abstract][Full Text] [Related]
18. Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
Taylor RL; Arno G; Poulter JA; Khan KN; Morarji J; Hull S; Pontikos N; Rueda Martin A; Smith KR; Ali M; Toomes C; McKibbin M; Clayton-Smith J; Grunewald S; Michaelides M; Moore AT; Hardcastle AJ; Inglehearn CF; Webster AR; Black GC;
JAMA Ophthalmol; 2017 Apr; 135(4):339-347. PubMed ID: 28253385
[TBL] [Abstract][Full Text] [Related]
19. Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family.
Hashmi JA; Fadhli F; Almatrafi A; Afzal S; Ramzan K; Thiele H; Nürnberg P; Basit S
Brain Dev; 2020 Sep; 42(8):587-593. PubMed ID: 32402540
[TBL] [Abstract][Full Text] [Related]
20. Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
Nishiguchi KM; Avila-Fernandez A; van Huet RA; Corton M; Pérez-Carro R; Martín-Garrido E; López-Molina MI; Blanco-Kelly F; Hoefsloot LH; van Zelst-Stams WA; García-Ruiz PJ; Del Val J; Di Gioia SA; Klevering BJ; van de Warrenburg BP; Vazquez C; Cremers FP; García-Sandoval B; Hoyng CB; Collin RW; Rivolta C; Ayuso C
Ophthalmology; 2014 Aug; 121(8):1620-7. PubMed ID: 24697911
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
