133 related articles for article (PubMed ID: 34625933)
1. [Analysis of pathogenic variants of USH2A gene in a child with Usher syndrome type II].
Tang K; Jiang L; Yao J; Yang S; Shen G
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Oct; 38(10):966-968. PubMed ID: 34625933
[TBL] [Abstract][Full Text] [Related]
2. Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.
Steele-Stallard HB; Le Quesne Stabej P; Lenassi E; Luxon LM; Claustres M; Roux AF; Webster AR; Bitner-Glindzicz M
Orphanet J Rare Dis; 2013 Aug; 8():122. PubMed ID: 23924366
[TBL] [Abstract][Full Text] [Related]
3. Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
Dreyer B; Brox V; Tranebjaerg L; Rosenberg T; Sadeghi AM; Möller C; Nilssen O
Hum Mutat; 2008 Mar; 29(3):451. PubMed ID: 18273898
[TBL] [Abstract][Full Text] [Related]
4. Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2.
He C; Liu X; Zhong Z; Chen J
BMC Ophthalmol; 2020 Feb; 20(1):70. PubMed ID: 32093671
[TBL] [Abstract][Full Text] [Related]
5. Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA.
Fu J; Cheng J; Zhou Q; Khan MA; Duan C; Peng J; Lv H; Fu J
Mol Med Rep; 2020 Oct; 22(4):3464-3472. PubMed ID: 32945453
[TBL] [Abstract][Full Text] [Related]
6. Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.
Pater JA; Green J; O'Rielly DD; Griffin A; Squires J; Burt T; Fernandez S; Fernandez B; Houston J; Zhou J; Roslin NM; Young TL
BMC Med Genet; 2019 May; 20(1):68. PubMed ID: 31046701
[TBL] [Abstract][Full Text] [Related]
7. [Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with Usher syndrome due to novel compound heterozygous variants of PCDH15 gene].
Yang K; Zhang Y; Lou G; Qi N; Zhang B; Kang B; Lei X; Liao S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Mar; 39(3):305-308. PubMed ID: 35315041
[TBL] [Abstract][Full Text] [Related]
8.
Zhu T; Chen DF; Wang L; Wu S; Wei X; Li H; Jin ZB; Sui R
Br J Ophthalmol; 2021 May; 105(5):694-703. PubMed ID: 32675063
[TBL] [Abstract][Full Text] [Related]
9. [Analysis of PRX gene variants in a child with Charcot-Marie-Tooth disease type 4F].
Yang Y; Ye S; Lyu Y; Xin H; Gao M; Ma J; Wang D; Gai Z; Liu Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jul; 39(7):749-753. PubMed ID: 35810435
[TBL] [Abstract][Full Text] [Related]
10. [Identification of novel compound heterozygous mutations of USH2A gene in a family with Usher syndrome type II].
Jiang H; Ge C; Wang Y; Tang G; Quan Q
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Jun; 32(3):327-30. PubMed ID: 26037342
[TBL] [Abstract][Full Text] [Related]
11. Analysis of intragenic USH2A copy number variation unveils broad spectrum of unique and recurrent variants.
Austin-Tse CA; Mandelker DL; Oza AM; Mason-Suares H; Rehm HL; Amr SS
Eur J Med Genet; 2018 Oct; 61(10):621-626. PubMed ID: 29655801
[TBL] [Abstract][Full Text] [Related]
12. [Analysis of USH2A gene mutation in a Chinese family affected with Usher syndrome].
Li P; Liu F; Zhang M; Wang Q; Liu M
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Aug; 32(4):468-71. PubMed ID: 26252086
[TBL] [Abstract][Full Text] [Related]
13. Partial USH2A deletions contribute to Usher syndrome in Denmark.
Dad S; Rendtorff ND; Kann E; Albrechtsen A; Mehrjouy MM; Bak M; Tommerup N; Tranebjærg L; Rosenberg T; Jensen H; Møller LB
Eur J Hum Genet; 2015 Dec; 23(12):1646-51. PubMed ID: 25804404
[TBL] [Abstract][Full Text] [Related]
14. [Analysis of two cases of glycogen storage disease type III due to compound heterozygous variants of AGL gene].
Zhang M; Wang C; Xie Z; Wu C; Long Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Nov; 38(11):1073-1076. PubMed ID: 34729746
[TBL] [Abstract][Full Text] [Related]
15. [Study on syndromic deafness caused by novel pattern of compound heterozygous variants in the
Chen B; Zhang S; Tian YA; Liu HF; Liu DH; Xue X; Li RJ; Hu XX; Guan JY; Tang WX; Xu HE
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2020 Sep; 55(9):822-829. PubMed ID: 32911884
[No Abstract] [Full Text] [Related]
16. MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome.
Sodi A; Mariottini A; Passerini I; Murro V; Tachyla I; Bianchi B; Menchini U; Torricelli F
Mol Vis; 2014; 20():1717-31. PubMed ID: 25558175
[TBL] [Abstract][Full Text] [Related]
17. Molecular Inversion Probe-Based Sequencing of
Reurink J; Dockery A; Oziębło D; Farrar GJ; Ołdak M; Ten Brink JB; Bergen AA; Rinne T; Yntema HG; Pennings RJE; van den Born LI; Aben M; Oostrik J; Venselaar H; Plomp AS; Khan MI; van Wijk E; Cremers FPM; Roosing S; Kremer H
Int J Mol Sci; 2021 Jun; 22(12):. PubMed ID: 34203967
[TBL] [Abstract][Full Text] [Related]
18. Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.
Aller E; Jaijo T; Beneyto M; Nájera C; Oltra S; Ayuso C; Baiget M; Carballo M; Antiñolo G; Valverde D; Moreno F; Vilela C; Collado D; Pérez-Garrigues H; Navea A; Millán JM
J Med Genet; 2006 Nov; 43(11):e55. PubMed ID: 17085681
[TBL] [Abstract][Full Text] [Related]
19. [Analysis of a Chinese pedigree affected with Hereditary FⅫ deficiency due to compound heterozygous variants of F12 gene].
Ye J; Li Y; Zhou J; Yang Y; Feng W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Oct; 40(10):1241-1245. PubMed ID: 37730224
[TBL] [Abstract][Full Text] [Related]
20. A novel USH2A variant in a patient with hearing loss and prenatal diagnosis of a familial fetus: a case report.
Zhou C; Xiao Y; Xie H; Liu S; Wang J
BMC Med Genomics; 2021 Aug; 14(1):200. PubMed ID: 34376197
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]