Matejas V - Search Results

1

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, Doerr HG, Gaspar H, Hofbeck M, Gillessen-Kaesbach G, Koch A, Meinecke P, Mundlos S, Nowka A, Rauch A, Reif S, von Schnakenburg C, Seidel H, Wehner LE, Zweier C, Bauhuber S, Matejas V, Kratz CP, Thomas C, Kutsche K. Zenker M, et al. Among authors: matejas v. J Med Genet. 2007 Oct;44(10):651-6. doi: 10.1136/jmg.2007.051276. Epub 2007 Jun 23. J Med Genet. 2007. PMID: 17586837 Free PMC article.

2

Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1.

Cavalcanti DP, Matejas V, Luquetti D, Mello MF, Zenker M. Cavalcanti DP, et al. Among authors: matejas v. Am J Med Genet A. 2007 Feb 1;143A(3):241-7. doi: 10.1002/ajmg.a.31426. Am J Med Genet A. 2007. PMID: 17163535

3

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. Matejas V, et al. Nephrol Dial Transplant. 2006 Nov;21(11):3283-6. doi: 10.1093/ndt/gfl463. Epub 2006 Aug 18. Nephrol Dial Transplant. 2006. PMID: 16921188

4

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. Wühl E, et al. Among authors: matejas v. Am J Med Genet A. 2007 Feb 15;143(4):311-9. doi: 10.1002/ajmg.a.31564. Am J Med Genet A. 2007. PMID: 17256789

5

A milder variant of Pierson syndrome.

Kagan M, Cohen AH, Matejas V, Vlangos C, Zenker M. Kagan M, et al. Among authors: matejas v. Pediatr Nephrol. 2008 Feb;23(2):323-7. doi: 10.1007/s00467-007-0624-x. Epub 2007 Oct 18. Pediatr Nephrol. 2008. PMID: 17943323

6

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. Matejas V, et al. Am J Med Genet A. 2011 Oct;155A(10):2601-4. doi: 10.1002/ajmg.a.34214. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910237 No abstract available.

7

Mutation analysis of Son of Sevenless in juvenile myelomonocytic leukemia.

Kratz CP, Niemeyer CM, Thomas C, Bauhuber S, Matejas V, Bergsträsser E, Flotho C, Flores NJ, Haas O, Hasle H, van den Heuvel-Eibrink MM, Kucherlapati RS, Lang P, Roberts AE, Starý J, Strahm B, Swanson KD, Trebo M, Zecca M, Neel B, Locatelli F, Loh ML, Zenker M. Kratz CP, et al. Among authors: matejas v. Leukemia. 2007 May;21(5):1108-9. doi: 10.1038/sj.leu.2404620. Epub 2007 Feb 22. Leukemia. 2007. PMID: 17315019 No abstract available.

8

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. Lehnhardt A, et al. Among authors: matejas v. Pediatr Nephrol. 2012 May;27(5):865-8. doi: 10.1007/s00467-011-2088-2. Epub 2012 Jan 8. Pediatr Nephrol. 2012. PMID: 22228401

9

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. Choi HJ, et al. Among authors: matejas v. Pediatr Nephrol. 2008 Jun;23(6):995-1000. doi: 10.1007/s00467-008-0748-7. Pediatr Nephrol. 2008. PMID: 18278520

10

Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome.

Dietrich A, Matejas V, Bitzan M, Hashmi S, Kiraly-Borri C, Lin SP, Mildenberger E, Hoppe B, Palm L, Shiihara T, Steiss JO, Tsai JD, Vester U, Weber S, Wühl E, Zepf K, Zenker M. Dietrich A, et al. Among authors: matejas v. Pediatr Nephrol. 2008 Oct;23(10):1779-86. doi: 10.1007/s00467-008-0880-4. Epub 2008 Jul 2. Pediatr Nephrol. 2008. PMID: 18594871

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