Zenker M - Search Results

1

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: zenker m. 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

2

A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts.

Zenker M, Rauch A, Winterpacht A, Tagariello A, Kraus C, Rupprecht T, Sticht H, Reis A. Zenker M, et al. Am J Hum Genet. 2004 Apr;74(4):731-7. doi: 10.1086/383094. Epub 2004 Feb 25. Am J Hum Genet. 2004. PMID: 14988809 Free PMC article.

3

Genotype-phenotype correlations in Noonan syndrome.

Zenker M, Buheitel G, Rauch R, Koenig R, Bosse K, Kress W, Tietze HU, Doerr HG, Hofbeck M, Singer H, Reis A, Rauch A. Zenker M, et al. J Pediatr. 2004 Mar;144(3):368-74. doi: 10.1016/j.jpeds.2003.11.032. J Pediatr. 2004. PMID: 15001945

4

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. Zenker M, et al. Hum Mol Genet. 2004 Nov 1;13(21):2625-32. doi: 10.1093/hmg/ddh284. Epub 2004 Sep 14. Hum Mol Genet. 2004. PMID: 15367484

5

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. Zenker M, et al. Am J Med Genet A. 2004 Oct 1;130A(2):138-45. doi: 10.1002/ajmg.a.30310. Am J Med Genet A. 2004. PMID: 15372515 Review.

6

Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11).

Zenker M, Wermuth B, Trautmann U, Knerr I, Kraus C, Rauch A, Reis A. Zenker M, et al. Am J Med Genet A. 2005 Jan 15;132A(2):185-8. doi: 10.1002/ajmg.a.30414. Am J Med Genet A. 2005. PMID: 15578616

7

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

Zenker M, Pierson M, Jonveaux P, Reis A. Zenker M, et al. Am J Med Genet A. 2005 Sep 15;138(1):73-4. doi: 10.1002/ajmg.a.30894. Am J Med Genet A. 2005. PMID: 16097004 No abstract available.

8

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hülskamp G, Guzman C, Rehder H, Beemer FA, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslender R, Gil-da-Silva-Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Ekici AB, Winterpacht A, Kwon YT, Varshavsky A, Reis A. Zenker M, et al. Nat Genet. 2005 Dec;37(12):1345-50. doi: 10.1038/ng1681. Epub 2005 Nov 20. Nat Genet. 2005. PMID: 16311597

9

Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome.

Mark K, Reis A, Zenker M. Mark K, et al. Among authors: zenker m. Prenat Diagn. 2006 Mar;26(3):262-6. doi: 10.1002/pd.1393. Prenat Diagn. 2006. PMID: 16450351

10

Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.

Zenker M, Nährlich L, Sticht H, Reis A, Horn D. Zenker M, et al. Am J Med Genet A. 2006 May 15;140(10):1069-73. doi: 10.1002/ajmg.a.31213. Am J Med Genet A. 2006. PMID: 16596676

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