Moog U - Search Results

1

Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia.

Kaiser AS, Maas B, Wolff A, Sutter C, Janssen JW, Hinderhofer K, Moog U. Kaiser AS, et al. Among authors: moog u. Eur J Hum Genet. 2015 May;23(5):704-7. doi: 10.1038/ejhg.2014.163. Epub 2014 Aug 13. Eur J Hum Genet. 2015. PMID: 25118029 Free PMC article.

2

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.

Engels H, Wohlleber E, Zink A, Hoyer J, Ludwig KU, Brockschmidt FF, Wieczorek D, Moog U, Hellmann-Mersch B, Weber RG, Willatt L, Kreiss-Nachtsheim M, Firth HV, Rauch A. Engels H, et al. Among authors: moog u. Eur J Hum Genet. 2009 Dec;17(12):1592-9. doi: 10.1038/ejhg.2009.90. Epub 2009 May 27. Eur J Hum Genet. 2009. PMID: 19471318 Free PMC article.

3

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.

Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, Bonin M, Riess A, Engels H, Sprengel R, Scherer SW, Rappold GA. Berkel S, et al. Among authors: moog u. Nat Genet. 2010 Jun;42(6):489-91. doi: 10.1038/ng.589. Epub 2010 May 16. Nat Genet. 2010. PMID: 20473310

4

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

5

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.

6

Phenotypic spectrum associated with CASK loss-of-function mutations.

Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, Balg S, Chassaing N, Coubes C, Das S, Engels H, Van Esch H, Grasshoff U, Heise M, Isidor B, Jarvis J, Koehler U, Martin T, Oehl-Jaschkowitz B, Ortibus E, Pilz DT, Prabhakar P, Rappold G, Rau I, Rettenberger G, Schlüter G, Scott RH, Shoukier M, Wohlleber E, Zirn B, Dobyns WB, Uyanik G. Moog U, et al. J Med Genet. 2011 Nov;48(11):741-51. doi: 10.1136/jmedgenet-2011-100218. Epub 2011 Sep 27. J Med Genet. 2011. PMID: 21954287

7

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

8

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.

9

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.

10

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

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