172 related articles for article (PubMed ID: 33982833)
1. LAMB2 novel variant c.2885-9 C>A affects RNA splicing in a minigene assay.
Wang X; Xiao H; Su B; Ren Y; Ding J; Wang F
Mol Genet Genomic Med; 2021 Jul; 9(7):e1704. PubMed ID: 33982833
[TBL] [Abstract][Full Text] [Related]
2. A new mutation associated with Pierson syndrome.
Kulali F; Calkavur S; Basaran C; Serdaroglu E; Kose M; Saka Guvenc M
Arch Argent Pediatr; 2020 Jun; 118(3):e288-e291. PubMed ID: 32470267
[TBL] [Abstract][Full Text] [Related]
3. A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome.
Zemrani B; Cachat F; Bonny O; Giannoni E; Durig J; Fellmann F; Chehade H
Eur J Med Res; 2016 Apr; 21():19. PubMed ID: 27130041
[TBL] [Abstract][Full Text] [Related]
4. Molecular mechanisms determining severity in patients with Pierson syndrome.
Minamikawa S; Miwa S; Inagaki T; Nishiyama K; Kaito H; Ninchoji T; Yamamura T; Nagano C; Sakakibara N; Ishimori S; Hara S; Yoshikawa N; Hirano D; Harada R; Hamada R; Matsunoshita N; Nagata M; Shima Y; Nakanishi K; Nagase H; Takeda H; Morisada N; Iijima K; Nozu K
J Hum Genet; 2020 Apr; 65(4):355-362. PubMed ID: 31959872
[TBL] [Abstract][Full Text] [Related]
5. Expanding the spectrum of LAMB2: Pierson syndrome associated with neuromuscular junction disorder in two patients.
Paiz F; Alawneh I; Nigro E; Gonorazky HD
Neuromuscul Disord; 2024 Jun; 39():30-32. PubMed ID: 38723581
[TBL] [Abstract][Full Text] [Related]
6. Laminin β2 gene missense mutation produces endoplasmic reticulum stress in podocytes.
Chen YM; Zhou Y; Go G; Marmerstein JT; Kikkawa Y; Miner JH
J Am Soc Nephrol; 2013 Jul; 24(8):1223-33. PubMed ID: 23723427
[TBL] [Abstract][Full Text] [Related]
7. First Japanese case of Pierson syndrome with mutations in LAMB2.
Togawa H; Nakanishi K; Mukaiyama H; Hama T; Shima Y; Nakano M; Fujita N; Iijima K; Yoshikawa N
Pediatr Int; 2013 Apr; 55(2):229-31. PubMed ID: 23679161
[TBL] [Abstract][Full Text] [Related]
8. LAMB2 mutation with different phenotypes in China
.
Zhang H; Cui J; Wang F; Xiao H; Ding J; Yao Y
Clin Nephrol; 2017 Jan; 87 (2017)(1):33-38. PubMed ID: 27925579
[TBL] [Abstract][Full Text] [Related]
9. A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.
Mohney BG; Pulido JS; Lindor NM; Hogan MC; Consugar MB; Peters J; Pankratz VS; Nasr SH; Smith SJ; Gloor J; Kubly V; Spencer D; Nielson R; Puffenberger EG; Strauss KA; Morton DH; Eldahdah L; Harris PC
Ophthalmology; 2011 Jun; 118(6):1137-44. PubMed ID: 21236492
[TBL] [Abstract][Full Text] [Related]
10. Development of neovascular glaucoma after intraocular surgery in Pierson syndrome.
Magliyah MS; Alsulaiman SM
Ophthalmic Genet; 2021 Jun; 42(3):317-319. PubMed ID: 33554690
[No Abstract] [Full Text] [Related]
11. Pathogenicity of a Human Laminin
Funk SD; Bayer RH; Malone AF; McKee KK; Yurchenco PD; Miner JH
J Am Soc Nephrol; 2018 Mar; 29(3):949-960. PubMed ID: 29263159
[TBL] [Abstract][Full Text] [Related]
12. Laminin β2 variants associated with isolated nephropathy that impact matrix regulation.
Kikkawa Y; Hashimoto T; Takizawa K; Urae S; Masuda H; Matsunuma M; Yamada Y; Hamada K; Nomizu M; Liapis H; Hisano M; Akioka Y; Miura K; Hattori M; Miner JH; Harita Y
JCI Insight; 2021 Mar; 6(6):. PubMed ID: 33749661
[TBL] [Abstract][Full Text] [Related]
13. A novel mutation of laminin β-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period.
Aydin B; Ipek MS; Ozaltin F; Zenciroğlu A; Dilli D; Beken S; Okumuş N; Hoşağasi N; Saygili-Karagöl B; Kundak A; Renda R; Aydog O
Genet Couns; 2013; 24(2):141-7. PubMed ID: 24032283
[TBL] [Abstract][Full Text] [Related]
14. Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report.
Qiu L; Zhou J
BMC Pediatr; 2016 Mar; 16():44. PubMed ID: 27004562
[TBL] [Abstract][Full Text] [Related]
15. Gastrointestinal symptoms as an extended clinical feature of Pierson syndrome: a case report and review of the literature.
Nishiyama K; Kurokawa M; Torio M; Sakai Y; Arima M; Tsukamoto S; Obata S; Minamikawa S; Nozu K; Kaku N; Maehara Y; Sonoda KH; Taguchi T; Ohga S
BMC Med Genet; 2020 Apr; 21(1):80. PubMed ID: 32295525
[TBL] [Abstract][Full Text] [Related]
16. Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome.
Bull KR; Mason T; Rimmer AJ; Crockford TL; Silver KL; Bouriez-Jones T; Hough TA; Chaudhry S; Roberts IS; Goodnow CC; Cornall RJ
J Pathol; 2014 May; 233(1):18-26. PubMed ID: 24293254
[TBL] [Abstract][Full Text] [Related]
17. A novel mutation of laminin β2 (LAMB2) in two siblings with renal failure.
Falix FA; Bennebroek CA; van der Zwaag B; Lapid-Gortzak R; Florquin S; Oosterveld MJ
Eur J Pediatr; 2017 Apr; 176(4):515-519. PubMed ID: 28188379
[TBL] [Abstract][Full Text] [Related]
18. An extremely mild clinical course in a case with LAMB2-associated nephritis diagnosed with next-generation sequencing.
Sakuraya K; Nozu K; Murakami H; Nagano C; Horinouchi T; Fujinaga S; Iijima K; Ohtomo Y
CEN Case Rep; 2021 Aug; 10(3):359-363. PubMed ID: 33476040
[TBL] [Abstract][Full Text] [Related]
19. A deletion in the N-terminal polymerizing domain of laminin β2 is a new mouse model of chronic nephrotic syndrome.
Funk SD; Bayer RH; McKee KK; Okada K; Nishimune H; Yurchenco PD; Miner JH
Kidney Int; 2020 Jul; 98(1):133-146. PubMed ID: 32456966
[TBL] [Abstract][Full Text] [Related]
20. Alport syndrome and Pierson syndrome: Diseases of the glomerular basement membrane.
Funk SD; Lin MH; Miner JH
Matrix Biol; 2018 Oct; 71-72():250-261. PubMed ID: 29673759
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]