Krumbiegel M - Search Results

1

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R. Reuter MS, et al. Among authors: krumbiegel m. JAMA Psychiatry. 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798. JAMA Psychiatry. 2017. PMID: 28097321

2

Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma.

Pasutto F, Krumbiegel M, Mardin CY, Paoli D, Lämmer R, Weber BH, Kruse FE, Schlötzer-Schrehardt U, Reis A. Pasutto F, et al. Among authors: krumbiegel m. Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1459-63. doi: 10.1167/iovs.07-1449. Invest Ophthalmol Vis Sci. 2008. PMID: 18385063 Free article.

3

Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma.

Krumbiegel M, Pasutto F, Mardin CY, Weisschuh N, Paoli D, Gramer E, Zenkel M, Weber BH, Kruse FE, Schlötzer-Schrehardt U, Reis A. Krumbiegel M, et al. Invest Ophthalmol Vis Sci. 2009 Jun;50(6):2796-801. doi: 10.1167/iovs.08-2339. Epub 2009 Jan 31. Invest Ophthalmol Vis Sci. 2009. PMID: 19182256 Free article.

4

Apolipoprotein E genotypes in pseudoexfoliation syndrome and pseudoexfoliation glaucoma.

Krumbiegel M, Pasutto F, Mardin CY, Weisschuh N, Paoli D, Gramer E, Weber BH, Kruse FE, Schlötzer-Schrehardt U, Reis A. Krumbiegel M, et al. J Glaucoma. 2010 Oct-Nov;19(8):561-5. doi: 10.1097/IJG.0b013e3181ca76c4. J Glaucoma. 2010. PMID: 20543710

5

Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome.

Krumbiegel M, Pasutto F, Schlötzer-Schrehardt U, Uebe S, Zenkel M, Mardin CY, Weisschuh N, Paoli D, Gramer E, Becker C, Ekici AB, Weber BH, Nürnberg P, Kruse FE, Reis A. Krumbiegel M, et al. Eur J Hum Genet. 2011 Feb;19(2):186-93. doi: 10.1038/ejhg.2010.144. Epub 2010 Sep 1. Eur J Hum Genet. 2011. PMID: 20808326 Free PMC article.

6

GPFrontend and GPGraphics: graphical analysis tools for genetic association studies.

Uebe S, Pasutto F, Krumbiegel M, Schanze D, Ekici AB, Reis A. Uebe S, et al. Among authors: krumbiegel m. BMC Bioinformatics. 2010 Sep 21;11:472. doi: 10.1186/1471-2105-11-472. BMC Bioinformatics. 2010. PMID: 20858257 Free PMC article.

7

De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies.

Gregor A, Krumbiegel M, Kraus C, Reis A, Zweier C. Gregor A, et al. Among authors: krumbiegel m. Am J Med Genet A. 2012 Jul;158A(7):1765-70. doi: 10.1002/ajmg.a.35427. Epub 2012 Jun 7. Am J Med Genet A. 2012. PMID: 22678764

8

Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations.

Kraus C, Rau TT, Lux P, Erlenbach-Wünsch K, Löhr S, Krumbiegel M, Thiel CT, Stöhr R, Agaimy A, Croner RS, Stürzl M, Hohenberger W, Hartmann A, Reis A. Kraus C, et al. Among authors: krumbiegel m. Int J Cancer. 2015 Mar 15;136(6):E559-68. doi: 10.1002/ijc.29149. Epub 2014 Aug 30. Int J Cancer. 2015. PMID: 25142776 Free article.

9

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.

Reuter MS, Riess A, Moog U, Briggs TA, Chandler KE, Rauch A, Stampfer M, Steindl K, Gläser D, Joset P; DDD Study; Krumbiegel M, Rabe H, Schulte-Mattler U, Bauer P, Beck-Wödl S, Kohlhase J, Reis A, Zweier C. Reuter MS, et al. Among authors: krumbiegel m. J Med Genet. 2017 Jan;54(1):64-72. doi: 10.1136/jmedgenet-2016-104094. Epub 2016 Aug 29. J Med Genet. 2017. PMID: 27572252

10

Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.

Kraus C, Hoyer J, Vasileiou G, Wunderle M, Lux MP, Fasching PA, Krumbiegel M, Uebe S, Reuter M, Beckmann MW, Reis A. Kraus C, et al. Among authors: krumbiegel m. Int J Cancer. 2017 Jan 1;140(1):95-102. doi: 10.1002/ijc.30428. Epub 2016 Sep 23. Int J Cancer. 2017. PMID: 27616075 Free article.

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