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Items: 1 to 20 of 109

1.

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
2.

Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome.

Zenker M, Tralau T, Lennert T, Pitz S, Mark K, Madlon H, Dötsch J, Reis A, Müntefering H, Neumann LM.

Am J Med Genet A. 2004 Oct 1;130A(2):138-45. Review.

PMID:
15372515
3.

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
4.

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.

5.

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
6.

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
7.

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
8.

Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype.

Chu C, Schwartz S, McPherson E.

Am J Med Genet A. 2004 Jun 1;127A(2):167-71.

PMID:
15108205
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.

Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.

Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR.

Am J Med Genet A. 2008 Jul 15;146A(14):1842-7. doi: 10.1002/ajmg.a.32381.

11.

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
12.

Forced expression of laminin beta1 in podocytes prevents nephrotic syndrome in mice lacking laminin beta2, a model for Pierson syndrome.

Suh JH, Jarad G, VanDeVoorde RG, Miner JH.

Proc Natl Acad Sci U S A. 2011 Sep 13;108(37):15348-53. doi: 10.1073/pnas.1108269108. Epub 2011 Aug 29.

13.

Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies.

Venditti CP, Hunt P, Donnenfeld A, Zackai E, Spinner NB.

Am J Med Genet A. 2004 Jan 30;124A(3):274-9.

PMID:
14708100
14.

Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.

Zenker M, Aigner T, Wendler O, Tralau T, Müntefering H, Fenski R, Pitz S, Schumacher V, Royer-Pokora B, Wühl E, Cochat P, Bouvier R, Kraus C, Mark K, Madlon H, Dötsch J, Rascher W, Maruniak-Chudek I, Lennert T, Neumann LM, Reis A.

Hum Mol Genet. 2004 Nov 1;13(21):2625-32. Epub 2004 Sep 14.

15.

Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.

Petit FM, Gajdos V, Parisot F, Capel L, Aboura A, Lachaux A, Tachdjian G, Poüs C, Labrune P.

Eur J Hum Genet. 2005 Mar;13(3):278-82.

16.

Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome.

Meins M, Burfeind P, Motsch S, Trappe R, Bartmus D, Langer S, Speicher MR, Mühlendyck H, Bartels I, Zoll B.

J Med Genet. 2003 May;40(5):e62. Review. No abstract available.

17.

Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype.

Stevenson DA, Brothman AR, Chen Z, Bayrak-Toydemir P, Longo N.

Am J Med Genet A. 2004 Sep 15;130A(1):88-91.

PMID:
15368501
18.

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
19.

Paternal UPD14 is responsible for a distinctive malformation complex.

Kurosawa K, Sasaki H, Sato Y, Yamanaka M, Shimizu M, Ito Y, Okuyama T, Matsuo M, Imaizumi K, Kuroki Y, Nishimura G.

Am J Med Genet. 2002 Jul 1;110(3):268-72.

PMID:
12116236
20.

Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders.

Xiao P, Liu P, Weber JL, Papasian CJ, Recker RR, Deng HW.

Hum Mutat. 2006 Feb;27(2):133-7.

PMID:
16429396
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