Reis A - Search Results

1

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: reis a. Prenat Diagn. 2006 Mar;26(3):262-6. doi: 10.1002/pd.1393. Prenat Diagn. 2006. PMID: 16450351

2

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. Among authors: reis a. 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

3

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. Among authors: reis a. 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.

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: reis a. 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

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. Among authors: reis a. 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.

6

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

Zenker M, Nährlich L, Sticht H, Reis A, Horn D. Zenker M, et al. Among authors: reis a. 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

7

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. Among authors: reis a. Nat Genet. 2005 Dec;37(12):1345-50. doi: 10.1038/ng1681. Epub 2005 Nov 20. Nat Genet. 2005. PMID: 16311597

8

Genetic basis and pancreatic biology of Johanson-Blizzard syndrome.

Zenker M, Mayerle J, Reis A, Lerch MM. Zenker M, et al. Among authors: reis a. Endocrinol Metab Clin North Am. 2006 Jun;35(2):243-53, vii-viii. doi: 10.1016/j.ecl.2006.02.013. Endocrinol Metab Clin North Am. 2006. PMID: 16632090 Review.

9

Mild variable Noonan syndrome in a family with a novel PTPN11 mutation.

Zenker M, Voss E, Reis A. Zenker M, et al. Among authors: reis a. Eur J Med Genet. 2007 Jan-Feb;50(1):43-7. doi: 10.1016/j.ejmg.2006.08.003. Epub 2006 Sep 14. Eur J Med Genet. 2007. PMID: 17052965

10

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

Rauch A, Hoyer J, Guth S, Zweier C, Kraus C, Becker C, Zenker M, Hüffmeier U, Thiel C, Rüschendorf F, Nürnberg P, Reis A, Trautmann U. Rauch A, et al. Among authors: reis a. Am J Med Genet A. 2006 Oct 1;140(19):2063-74. doi: 10.1002/ajmg.a.31416. Am J Med Genet A. 2006. PMID: 16917849

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