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Items: 1 to 20 of 126

1.

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. doi: 10.1016/j.ophtha.2010.10.009. Epub 2011 Jan 13.

2.

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 30;21:19. doi: 10.1186/s40001-016-0215-z.

3.

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. doi: 10.1111/j.1442-200X.2012.03629.x.

PMID:
23679161
4.

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. doi: 10.1007/s00431-017-2871-6. Epub 2017 Feb 10.

5.

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.

PMID:
27925579
6.

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.

PMID:
24032283
7.

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. doi: 10.1681/ASN.2012121149. Epub 2013 May 30.

8.

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.

Hasselbacher K, Wiggins RC, Matejas V, Hinkes BG, Mucha B, Hoskins BE, Ozaltin F, Nürnberg G, Becker C, Hangan D, Pohl M, Kuwertz-Bröking E, Griebel M, Schumacher V, Royer-Pokora B, Bakkaloglu A, Nürnberg P, Zenker M, Hildebrandt F.

Kidney Int. 2006 Sep;70(6):1008-12. Epub 2006 Aug 16.

9.

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. doi: 10.1002/path.4308. Epub 2014 Feb 6.

10.

Ophthalmological aspects of Pierson syndrome.

Bredrup C, Matejas V, Barrow M, Bláhová K, Bockenhauer D, Fowler DJ, Gregson RM, Maruniak-Chudek I, Medeira A, Mendonça EL, Kagan M, Koenig J, Krastel H, Kroes HY, Saggar A, Sawyer T, Schittkowski M, Swietliński J, Thompson D, VanDeVoorde RG, Wittebol-Post D, Woodruff G, Zurowska A, Hennekam RC, Zenker M, Russell-Eggitt I.

Am J Ophthalmol. 2008 Oct;146(4):602-611. doi: 10.1016/j.ajo.2008.05.039. Epub 2008 Jul 31.

PMID:
18672223
11.

Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome.

Wühl E, Kogan J, Zurowska A, Matejas V, Vandevoorde RG, Aigner T, Wendler O, Lesniewska I, Bouvier R, Reis A, Weis J, Cochat P, Zenker M.

Am J Med Genet A. 2007 Feb 15;143(4):311-9.

PMID:
17256789
12.

Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR.

Lehnhardt A, Lama A, Amann K, Matejas V, Zenker M, Kemper MJ.

Pediatr Nephrol. 2012 May;27(5):865-8. doi: 10.1007/s00467-011-2088-2. Epub 2012 Jan 8.

PMID:
22228401
13.

A milder variant of Pierson syndrome.

Kagan M, Cohen AH, Matejas V, Vlangos C, Zenker M.

Pediatr Nephrol. 2008 Feb;23(2):323-7. Epub 2007 Oct 18.

PMID:
17943323
14.

Variable phenotype of Pierson syndrome.

Choi HJ, Lee BH, Kang JH, Jeong HJ, Moon KC, Ha IS, Yu YS, Matejas V, Zenker M, Choi Y, Cheong HI.

Pediatr Nephrol. 2008 Jun;23(6):995-1000. doi: 10.1007/s00467-008-0748-7.

PMID:
18278520
15.

Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities.

Matejas V, Muscheites J, Wigger M, Kreutzer HJ, Nizze H, Zenker M.

Am J Med Genet A. 2011 Oct;155A(10):2601-4. doi: 10.1002/ajmg.a.34214. Epub 2011 Sep 9. No abstract available.

PMID:
21910237
16.

A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2.

Matejas V, Al-Gazali L, Amirlak I, Zenker M.

Nephrol Dial Transplant. 2006 Nov;21(11):3283-6. Epub 2006 Aug 18.

PMID:
16921188
17.

[LAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotonia].

Zurowska A, Załuska-Leśniewska I, Zenker M.

Przegl Lek. 2006;63 Suppl 3:37-9. Polish.

PMID:
16898484
18.
19.

The first Chinese Pierson syndrome with novel mutations in LAMB2.

Zhao D, Ding J, Wang F, Fan Q, Guan N, Wang S, Zhang Y.

Nephrol Dial Transplant. 2010 Mar;25(3):776-8. doi: 10.1093/ndt/gfp563. Epub 2009 Oct 26.

PMID:
19861315
20.

Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago.

Zenker M, Pierson M, Jonveaux P, Reis A.

Am J Med Genet A. 2005 Sep 15;138(1):73-4. No abstract available.

PMID:
16097004

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