Moog U - Search Results

1

The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1.

Ott T, Kaufmann L, Granzow M, Hinderhofer K, Bartram CR, Theiß S, Seitz A, Paramasivam N, Schulz A, Moog U, Blum M, Evers CM. Ott T, et al. Among authors: moog u. Front Physiol. 2019 Feb 25;10:134. doi: 10.3389/fphys.2019.00134. eCollection 2019. Front Physiol. 2019. PMID: 30858804 Free PMC article.

2

Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean?

Evers C, Heidemann PH, Dunstheimer D, Schulze E, Haag C, Janssen JW, Fischer C, Jauch A, Moog U. Evers C, et al. Among authors: moog u. Clin Genet. 2011 May;79(5):489-94. doi: 10.1111/j.1399-0004.2010.01488.x. Clin Genet. 2011. PMID: 20681991

3

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature.

Behnecke A, Hinderhofer K, Bartsch O, Nümann A, Ipach ML, Damatova N, Haaf T, Dufke A, Riess O, Moog U. Behnecke A, et al. Among authors: moog u. Am J Med Genet A. 2011 Feb;155A(2):372-9. doi: 10.1002/ajmg.a.33656. Epub 2010 Oct 28. Am J Med Genet A. 2011. PMID: 21271657 Review.

4

Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13).

Behnecke A, Hinderhofer K, Jauch A, Janssen JW, Moog U. Behnecke A, et al. Among authors: moog u. Clin Genet. 2012 Nov;82(5):494-8. doi: 10.1111/j.1399-0004.2011.01792.x. Epub 2011 Oct 19. Clin Genet. 2012. PMID: 21954990

5

A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL.

Haemmerling S, Behnisch W, Doerks T, Korbel JO, Bork P, Moog U, Hentze S, Grasshoff U, Bonin M, Rieß O, Janssen JW, Jauch A, Bartram CR, Reinhardt D, Koch KA, Bandapalli OR, Kulozik AE. Haemmerling S, et al. Among authors: moog u. Br J Haematol. 2012 Apr;157(2):180-7. doi: 10.1111/j.1365-2141.2012.09028.x. Epub 2012 Feb 1. Br J Haematol. 2012. PMID: 22296450 Free article.

6

A small terminal deletion 11q in a boy without Jacobsen syndrome: narrowing the critical region for the 11q Jacobsen syndrome phenotype.

Evers C, Janssen JW, Jauch A, Bonin M, Moog U. Evers C, et al. Among authors: moog u. Am J Med Genet A. 2012 Mar;158A(3):680-4. doi: 10.1002/ajmg.a.34433. Epub 2012 Feb 2. Am J Med Genet A. 2012. PMID: 22302716 No abstract available.

7

Hepatoblastoma in two siblings and familial adenomatous polyposis: causal nexus or coincidence?

Evers C, Gaspar H, Kloor M, Bozukova G, Kadmon M, Keller M, Sutter C, Moog U. Evers C, et al. Among authors: moog u. Fam Cancer. 2012 Sep;11(3):529-33. doi: 10.1007/s10689-012-9538-2. Fam Cancer. 2012. PMID: 22692730

8

Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox.

Evers C, Jungwirth MS, Morgenthaler J, Hinderhofer K, Maas B, Janssen JW, Jauch A, Hehr U, Steinbeisser H, Moog U. Evers C, et al. Among authors: moog u. Clin Genet. 2014 Apr;85(4):347-53. doi: 10.1111/cge.12171. Epub 2013 May 28. Clin Genet. 2014. PMID: 23614707

9

The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?

Dikow N, Maas B, Gaspar H, Kreiss-Nachtsheim M, Engels H, Kuechler A, Garbes L, Netzer C, Neuhann TM, Koehler U, Casteels K, Devriendt K, Janssen JW, Jauch A, Hinderhofer K, Moog U. Dikow N, et al. Among authors: moog u. Am J Med Genet A. 2013 Sep;161A(9):2158-66. doi: 10.1002/ajmg.a.36046. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913520

10

Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation.

Blake J, Riddell A, Theiss S, Gonzalez AP, Haase B, Jauch A, Janssen JW, Ibberson D, Pavlinic D, Moog U, Benes V, Runz H. Blake J, et al. Among authors: moog u. PLoS One. 2014 Mar 13;9(3):e90894. doi: 10.1371/journal.pone.0090894. eCollection 2014. PLoS One. 2014. PMID: 24625750 Free PMC article.

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