102 related articles for article (PubMed ID: 35126455)
1. A Novel Heterozygous Pathogenic Variation in
Che F; Zhao J; Zhao Y; Wang Z; Zhang L; Yang Y
Front Genet; 2021; 12():783455. PubMed ID: 35126455
[No Abstract] [Full Text] [Related]
2. A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia.
Uchiyama Y; Yanagisawa K; Kunishima S; Shiina M; Ogawa Y; Nakashima M; Hirato J; Imagawa E; Fujita A; Hamanaka K; Miyatake S; Mitsuhashi S; Takata A; Miyake N; Ogata K; Handa H; Matsumoto N; Mizuguchi T
Clin Genet; 2018 Dec; 94(6):548-553. PubMed ID: 30051457
[TBL] [Abstract][Full Text] [Related]
3. Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.
Ruan M; Wang H; Zhu M; Sun R; Shi J; Wang Q; Chen Y; Wang Y; Wang D
J Clin Lab Anal; 2022 Dec; 36(12):e24767. PubMed ID: 36357319
[TBL] [Abstract][Full Text] [Related]
4. Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene.
Marzollo A; Zampieri S; Barozzi S; Yousaf MA; Quartararo J; De Rocco D; Faleschini M; Marconi C; Berti CC; Bozzi V; Russo G; Giordano P; Goffrini P; Bresolin S; Pastore A; Savoia A; Pecci A
Br J Haematol; 2024 May; ():. PubMed ID: 38815995
[TBL] [Abstract][Full Text] [Related]
5. A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing.
Sun Y; Zhang Z; Cheng J; Lu Y; Yang CL; Luo YY; Yang G; Yang H; Zhu L; Zhou J; Yao HQ
J Hum Genet; 2015 Jun; 60(6):299-304. PubMed ID: 25809937
[TBL] [Abstract][Full Text] [Related]
6. Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics.
De Rocco D; Cerqua C; Goffrini P; Russo G; Pastore A; Meloni F; Nicchia E; Moraes CT; Pecci A; Salviati L; Savoia A
Biochim Biophys Acta; 2014 Feb; 1842(2):269-74. PubMed ID: 24326104
[TBL] [Abstract][Full Text] [Related]
7. Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing.
Abuzenadah AM; Zaher GF; Dallol A; Damanhouri GA; Chaudhary AG; Al-Sayes F; Gari MA; AlZahrani M; Hindawi S; Al-Qahtani MH
J Thromb Thrombolysis; 2013 Nov; 36(4):501-6. PubMed ID: 23334996
[TBL] [Abstract][Full Text] [Related]
8. Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.
Micheal S; Siddiqui SN; Zafar SN; Venselaar H; Qamar R; Khan MI; den Hollander AI
Neurogenetics; 2016 Jan; 17(1):17-23. PubMed ID: 26489929
[TBL] [Abstract][Full Text] [Related]
9. Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss.
Liu F; Hu J; Xia W; Hao L; Ma J; Ma D; Ma Z
PLoS One; 2015; 10(5):e0126602. PubMed ID: 25961296
[TBL] [Abstract][Full Text] [Related]
10. A novel EDAR missense mutation identified by whole-exome sequencing with non-syndromic tooth agenesis in a Chinese family.
Zhang H; Kong X; Ren J; Yuan S; Liu C; Hou Y; Liu Y; Meng L; Zhang G; Du Q; Shen W
Mol Genet Genomic Med; 2021 Jun; 9(6):e1684. PubMed ID: 33943035
[TBL] [Abstract][Full Text] [Related]
11. Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
Yi Z; Xiao X; Li S; Sun W; Zhang Q
Exp Eye Res; 2019 Dec; 189():107846. PubMed ID: 31626798
[TBL] [Abstract][Full Text] [Related]
12. Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.
Johnson B; Lowe GC; Futterer J; Lordkipanidzé M; MacDonald D; Simpson MA; Sanchez-Guiú I; Drake S; Bem D; Leo V; Fletcher SJ; Dawood B; Rivera J; Allsup D; Biss T; Bolton-Maggs PH; Collins P; Curry N; Grimley C; James B; Makris M; Motwani J; Pavord S; Talks K; Thachil J; Wilde J; Williams M; Harrison P; Gissen P; Mundell S; Mumford A; Daly ME; Watson SP; Morgan NV;
Haematologica; 2016 Oct; 101(10):1170-1179. PubMed ID: 27479822
[TBL] [Abstract][Full Text] [Related]
13. First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.
Oziębło D; Sarosiak A; Leja ML; Budde BS; Tacikowska G; Di Donato N; Bolz HJ; Nürnberg P; Skarżyński H; Ołdak M
J Transl Med; 2019 Oct; 17(1):351. PubMed ID: 31655630
[TBL] [Abstract][Full Text] [Related]
14. Identification of ANLN as a new likely pathogenic gene of branchio-otic syndrome in a three-generation Chinese family.
Deng L; Liu Y; Xia W; Hu J; Ma Z
Mol Genet Genomic Med; 2019 Feb; 7(2):e00525. PubMed ID: 30548429
[TBL] [Abstract][Full Text] [Related]
15. A novel heterozygous
Li A; Liu S; Zhang P; Hu X; Li G; Gu W; Jiang Y
Front Genet; 2022; 13():1047230. PubMed ID: 36482904
[TBL] [Abstract][Full Text] [Related]
16. The Y49H cytochrome c variant enhances megakaryocytic maturation of K-562 cells.
Shafaei Pishabad Z; Ledgerwood EC
Biochim Biophys Acta Mol Basis Dis; 2024 Jun; 1870(5):167134. PubMed ID: 38531481
[TBL] [Abstract][Full Text] [Related]
17. Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole-exome sequencing.
Wang M; Li Q; Deng A; Zhu X; Yang J
Exp Ther Med; 2020 Aug; 20(2):1447-1454. PubMed ID: 32742378
[TBL] [Abstract][Full Text] [Related]
18. [Analysis of DFNA5 gene variant in a Chinese pedigree affected with late-onset non-syndromic hearing loss].
Wang N; Chen C; Tong M; Li Q; Liu L; Hu S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Feb; 38(2):174-177. PubMed ID: 33565075
[TBL] [Abstract][Full Text] [Related]
19. A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.
Gray B; Bagnall RD; Lam L; Ingles J; Turner C; Haan E; Davis A; Yang PC; Clancy CE; Sy RW; Semsarian C
Heart Rhythm; 2016 Aug; 13(8):1652-60. PubMed ID: 27157848
[TBL] [Abstract][Full Text] [Related]
20. Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss.
Wang H; Zhao Y; Yi Y; Gao Y; Liu Q; Wang D; Li Q; Lan L; Li N; Guan J; Yin Z; Han B; Zhao F; Zong L; Xiong W; Yu L; Song L; Yi X; Yang L; Petit C; Wang Q
PLoS One; 2014; 9(8):e103133. PubMed ID: 25116015
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
