Zenker M - Search Results

1

Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement.

Al-Dosari MS, Al-Muhsen S, Al-Jazaeri A, Mayerle J, Zenker M, Alkuraya FS. Al-Dosari MS, et al. Among authors: zenker m. Am J Med Genet A. 2008 Jul 15;146A(14):1875-9. doi: 10.1002/ajmg.a.32401. Am J Med Genet A. 2008. PMID: 18553553

2

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

3

Developmental and metabolic disorders of the pancreas.

Lerch MM, Zenker M, Turi S, Mayerle J. Lerch MM, et al. Among authors: zenker m. Endocrinol Metab Clin North Am. 2006 Jun;35(2):219-41, vii. doi: 10.1016/j.ecl.2006.02.004. Endocrinol Metab Clin North Am. 2006. PMID: 16632089 Review.

4

Genetic basis and pancreatic biology of Johanson-Blizzard syndrome.

Zenker M, Mayerle J, Reis A, Lerch MM. Zenker M, et al. 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.

5

A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene.

Hüffmeier U, Zenker M, Hoyer J, Fahsold R, Rauch A. Hüffmeier U, et al. Among authors: zenker m. Am J Med Genet A. 2006 Dec 15;140(24):2749-56. doi: 10.1002/ajmg.a.31547. Am J Med Genet A. 2006. PMID: 17103458

6

Fraser syndrome due to homozygosity for a splice site mutation of FREM2.

Shafeghati Y, Kniepert A, Vakili G, Zenker M. Shafeghati Y, et al. Among authors: zenker m. Am J Med Genet A. 2008 Feb 15;146A(4):529-31. doi: 10.1002/ajmg.a.32091. Am J Med Genet A. 2008. PMID: 18203166 No abstract available.

7

Local clustering of PRSS1 R122H mutations in hereditary pancreatitis patients from Northern Germany.

Weiss FU, Zenker M, Ekici AB, Simon P, Mayerle J, Lerch MM. Weiss FU, et al. Among authors: zenker m. Am J Gastroenterol. 2008 Oct;103(10):2585-8. doi: 10.1111/j.1572-0241.2008.02003.x. Epub 2008 Aug 8. Am J Gastroenterol. 2008. PMID: 18702646

8

Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.

Elting M, Kariminejad A, de Sonnaville ML, Ottenkamp J, Bauhuber S, Bozorgmehr B, Zenker M, Cobben JM. Elting M, et al. Among authors: zenker m. Am J Med Genet A. 2008 Dec 1;146A(23):3058-61. doi: 10.1002/ajmg.a.32566. Am J Med Genet A. 2008. PMID: 19006206

9

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing.

Alkhouri N, Kaplan B, Kay M, Shealy A, Crowe C, Bauhuber S, Zenker M. Alkhouri N, et al. Among authors: zenker m. World J Gastroenterol. 2008 Nov 28;14(44):6863-6. doi: 10.3748/wjg.14.6863. World J Gastroenterol. 2008. PMID: 19058315 Free PMC article.

10

Eponym: Johanson-Blizzard syndrome.

Rezaei N, Sabbaghian M, Liu Z, Zenker M. Rezaei N, et al. Among authors: zenker m. Eur J Pediatr. 2011 Feb;170(2):179-83. doi: 10.1007/s00431-010-1240-5. Epub 2010 Jun 17. Eur J Pediatr. 2011. PMID: 20556422 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

386 results

Search Page