Zenker M - Search Results

1

Oblique facial clefts in Johanson-Blizzard syndrome.

Corona-Rivera JR, Zapata-Aldana E, Bobadilla-Morales L, Corona-Rivera A, Peña-Padilla C, Solis-Hernández E, Guzmán C, Richmond E, Zahl C, Zenker M, Sukalo M. Corona-Rivera JR, et al. Among authors: zenker m. Am J Med Genet A. 2016 Jun;170(6):1495-501. doi: 10.1002/ajmg.a.37630. Epub 2016 Mar 17. Am J Med Genet A. 2016. PMID: 26989884 Review.

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

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

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

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

7

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

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

Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.

Kratz CP, Zampino G, Kriek M, Kant SG, Leoni C, Pantaleoni F, Oudesluys-Murphy AM, Di Rocco C, Kloska SP, Tartaglia M, Zenker M. Kratz CP, et al. Among authors: zenker m. Am J Med Genet A. 2009 May;149A(5):1036-40. doi: 10.1002/ajmg.a.32786. Am J Med Genet A. 2009. PMID: 19396835

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