191 related articles for article (PubMed ID: 32090094)
1. Whole-Exome Sequencing Reveals a Rare Missense Variant in
Huang XF; Sun L; Zhang C; Zhou Z; Chen H; Zhang L; Brown MA; Xia X
Biomed Res Int; 2020; 2020():4321419. PubMed ID: 32090094
[TBL] [Abstract][Full Text] [Related]
2. Common missense variant of monocarboxylate transporter 9 (MCT9/SLC16A9) gene is associated with renal overload gout, but not with all gout susceptibility.
Nakayama A; Matsuo H; Shimizu T; Ogata H; Takada Y; Nakashima H; Nakamura T; Shimizu S; Chiba T; Sakiyama M; Ushiyama C; Takada T; Inoue K; Kawai S; Hishida A; Wakai K; Hamajima N; Ichida K; Sakurai Y; Kato Y; Shimizu T; Shinomiya N
Hum Cell; 2013 Dec; 26(4):133-6. PubMed ID: 23990105
[TBL] [Abstract][Full Text] [Related]
3. Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation.
Malakootian M; Jalilian M; Kalayinia S; Hosseini Moghadam M; Heidarali M; Haghjoo M
BMC Cardiovasc Disord; 2022 Feb; 22(1):37. PubMed ID: 35148685
[TBL] [Abstract][Full Text] [Related]
4. Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout.
Toyoda Y; Pavelcová K; Bohatá J; Ješina P; Kubota Y; Suzuki H; Takada T; Stiburkova B
Int J Mol Sci; 2021 Feb; 22(4):. PubMed ID: 33669292
[TBL] [Abstract][Full Text] [Related]
5. Unraveling the genetic causes in large pedigrees with gout by whole‑exome sequencing.
Xia X; Jin J; Chen ZJ; Zhou Z; Chen H; Zhang C; Zhang L; Sun L
Int J Mol Med; 2020 Apr; 45(4):1047-1058. PubMed ID: 32124961
[TBL] [Abstract][Full Text] [Related]
6. Whole-Exome Sequencing Identifies a Novel
Guo Y; Jin J; Zhou Z; Chen Y; Sun L; Zhang C; Xia X
Front Cell Dev Biol; 2022; 10():802635. PubMed ID: 35372350
[No Abstract] [Full Text] [Related]
7. NPT1/SLC17A1 is a renal urate exporter in humans and its common gain-of-function variant decreases the risk of renal underexcretion gout.
Chiba T; Matsuo H; Kawamura Y; Nagamori S; Nishiyama T; Wei L; Nakayama A; Nakamura T; Sakiyama M; Takada T; Taketani Y; Suma S; Naito M; Oda T; Kumagai H; Moriyama Y; Ichida K; Shimizu T; Kanai Y; Shinomiya N
Arthritis Rheumatol; 2015 Jan; 67(1):281-7. PubMed ID: 25252215
[TBL] [Abstract][Full Text] [Related]
8. Novel missense mutation in PTPN22 in a Chinese pedigree with Hashimoto's thyroiditis.
Gong L; Liu B; Wang J; Pan H; Qi A; Zhang S; Wu J; Yang P; Wang B
BMC Endocr Disord; 2018 Nov; 18(1):76. PubMed ID: 30384852
[TBL] [Abstract][Full Text] [Related]
9. Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study.
Cardinale CJ; Li D; Tian L; Connolly JJ; March ME; Hou C; Wang F; Snyder J; Kim CE; Chiavacci RM; Sleiman PM; Burnham JM; Hakonarson H
BMC Musculoskelet Disord; 2016 Nov; 17(1):462. PubMed ID: 27829420
[TBL] [Abstract][Full Text] [Related]
10. Rare variants in Protein tyrosine phosphatase, receptor type A (PTPRA) in schizophrenia: Evidence from a family based study.
John J; Kukshal P; Sharma A; Bhatia T; Nimgaonkar VL; Deshpande SN; Thelma BK
Schizophr Res; 2019 Apr; 206():75-81. PubMed ID: 30594456
[TBL] [Abstract][Full Text] [Related]
11. Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease.
Okou DT; Mondal K; Faubion WA; Kobrynski LJ; Denson LA; Mulle JG; Ramachandran D; Xiong Y; Svingen P; Patel V; Bose P; Waters JP; Prahalad S; Cutler DJ; Zwick ME; Kugathasan S
J Pediatr Gastroenterol Nutr; 2014 May; 58(5):561-8. PubMed ID: 24792626
[TBL] [Abstract][Full Text] [Related]
12. Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase.
Drabkin M; Yogev Y; Zeller L; Zarivach R; Zalk R; Halperin D; Wormser O; Gurevich E; Landau D; Kadir R; Perez Y; Birk OS
J Clin Invest; 2019 Dec; 129(12):5163-5168. PubMed ID: 31638601
[TBL] [Abstract][Full Text] [Related]
13. Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene.
Tada H; Kawashiri MA; Nohara A; Saito R; Tanaka Y; Nomura A; Konno T; Sakata K; Fujino N; Takamura T; Inazu A; Mabuchi H; Yamagishi M; Hayashi K
Atherosclerosis; 2015 Jun; 240(2):324-9. PubMed ID: 25875382
[TBL] [Abstract][Full Text] [Related]
14. Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family.
Khan MI; Latif M; Saif M; Ahmad H; Khan AU; Naseer MI; Hussain HMJ; Jelani M
J Gene Med; 2021 Jan; 23(1):e3279. PubMed ID: 32989887
[TBL] [Abstract][Full Text] [Related]
15. Twenty-eight loci that influence serum urate levels: analysis of association with gout.
Phipps-Green AJ; Merriman ME; Topless R; Altaf S; Montgomery GW; Franklin C; Jones GT; van Rij AM; White D; Stamp LK; Dalbeth N; Merriman TR
Ann Rheum Dis; 2016 Jan; 75(1):124-30. PubMed ID: 25187157
[TBL] [Abstract][Full Text] [Related]
16. Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma.
Khan MI; Choi S; Zahid M; Ahmad H; Ali R; Jelani M; Kang C
Genes Genomics; 2018 Jul; 40(7):789-795. PubMed ID: 29934816
[TBL] [Abstract][Full Text] [Related]
17. A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4.
Mohamadian M; Ghandil P; Naseri M; Bahrami A; Momen AA
J Clin Lab Anal; 2020 Nov; 34(11):e23484. PubMed ID: 33079427
[TBL] [Abstract][Full Text] [Related]
18. Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in
Robyns T; Willems R; Van Cleemput J; Jhangiani S; Muzny D; Gibbs R; Lupski JR; Breckpot J; Devriendt K; Corveleyn A
Acta Cardiol; 2020 Dec; 75(8):748-753. PubMed ID: 31583969
[No Abstract] [Full Text] [Related]
19. A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy).
Grosz BR; Golovchenko NB; Ellis M; Kumar K; Nicholson GA; Antonellis A; Kennerson ML
Sci Rep; 2019 Dec; 9(1):19336. PubMed ID: 31852952
[TBL] [Abstract][Full Text] [Related]
20. Exome Sequencing Identifies a Mutation (Y740C) in Spastic Paraplegia 7 Gene Associated with Adult-Onset Primary Lateral Sclerosis in a Chinese Family.
Liu Y; Xu J; Tao W; Fu C; Liu J; Yu R; Zhang X
Eur Neurol; 2019; 81(1-2):87-93. PubMed ID: 31117107
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]