Pabst B - Search Results

1

Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23].

Koehler U, Pabst B, Pober B, Kozel B. Koehler U, et al. Among authors: pabst b. Eur J Hum Genet. 2014 Sep;22(9). doi: 10.1038/ejhg.2014.28. Epub 2014 Feb 26. Eur J Hum Genet. 2014. PMID: 24569604 Free PMC article. No abstract available.

2

PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1.

Vogt J, Wernstedt A, Ripperger T, Pabst B, Zschocke J, Kratz C, Wimmer K. Vogt J, et al. Among authors: pabst b. Eur J Hum Genet. 2016 Nov;24(11):1598-1604. doi: 10.1038/ejhg.2016.75. Epub 2016 Jun 22. Eur J Hum Genet. 2016. PMID: 27329736 Free PMC article.

3

Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin.

Miller K, Pabst B, Ritter H, Nürnberg P, Siebert R, Schmidtke J, Arslan-Kirchner M. Miller K, et al. Among authors: pabst b. Hum Genet. 2003 Apr;112(4):343-7. doi: 10.1007/s00439-002-0885-1. Epub 2003 Feb 6. Hum Genet. 2003. PMID: 12574939

4

Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.

Wessels K, Bohnhorst B, Luhmer I, Morlot S, Bohring A, Jonasson J, Epplen JT, Gadzicki D, Glaser S, Göhring G, Mälzer M, Hein A, Arslan-Kirchner M, Stuhrmann M, Schmidtke J, Pabst B. Wessels K, et al. Among authors: pabst b. Eur J Med Genet. 2010 Sep-Oct;53(5):280-5. doi: 10.1016/j.ejmg.2010.07.002. Epub 2010 Jul 30. Eur J Med Genet. 2010. PMID: 20624498

5

16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome.

Kloth K, Renner S, Burmester G, Steinemann D, Pabst B, Lorenz B, Simon R, Kolbe V, Hempel M, Rosenberger G. Kloth K, et al. Among authors: pabst b. Clin Genet. 2019 Jul;96(1):85-90. doi: 10.1111/cge.13557. Epub 2019 May 16. Clin Genet. 2019. PMID: 31044419

6

Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A.

Golas MM, Auber B, Ripperger T, Pabst B, Schmidt G, Morlot M, Diebold U, Steinemann D, Schlegelberger B, Morlot S. Golas MM, et al. Among authors: pabst b. Am J Med Genet A. 2019 Jul;179(7):1383-1389. doi: 10.1002/ajmg.a.61166. Epub 2019 May 6. Am J Med Genet A. 2019. PMID: 31062505

7

Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome.

Singh KK, Elligsen D, Liersch R, Schubert S, Pabst B, Arslan-Kirchner M, Schmidtke J. Singh KK, et al. Among authors: pabst b. J Mol Cell Cardiol. 2007 Feb;42(2):352-6. doi: 10.1016/j.yjmcc.2006.11.006. Epub 2006 Dec 26. J Mol Cell Cardiol. 2007. PMID: 17189636

8

Search for deletion 22q11.2 in interphase nuclei of buccal mucosa of patients ascertained by isolated cleft palate: a new diagnostic approach.

Shouman N, Pabst B, Arslan-Kirchner M, Eckardt A, Schönweiler R, Ptok M, Mehraein Y, Schmidtke J, Miller K. Shouman N, et al. Among authors: pabst b. Int J Oral Maxillofac Surg. 2003 Apr;32(2):198-200. doi: 10.1054/ijom.2002.0336. Int J Oral Maxillofac Surg. 2003. PMID: 12729782

9

The application of region-specific probes for the resolution of duplication 8p: a case report and a review of the literature.

Pabst B, Arslan-Kirchner M, Schmidtke J, Miller K. Pabst B, et al. Cytogenet Genome Res. 2003;103(1-2):3-7. doi: 10.1159/000076280. Cytogenet Genome Res. 2003. PMID: 15004455 Review.

10

Constitutional trisomy 8p11.21-q11.21 mosaicism: a germline alteration predisposing to myeloid leukaemia.

Ripperger T, Tauscher M, Praulich I, Pabst B, Teigler-Schlegel A, Yeoh A, Göhring G, Schlegelberger B, Flotho C, Niemeyer CM, Steinemann D. Ripperger T, et al. Among authors: pabst b. Br J Haematol. 2011 Oct;155(2):209-17. doi: 10.1111/j.1365-2141.2011.08817.x. Epub 2011 Aug 18. Br J Haematol. 2011. PMID: 21848520 Free article. Review.

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