Auber B - Search Results

1

Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders.

Lühmann JL, Schmidt G, Auber B, Bergmann AK, Brandau O, Louis A, Hentze S, Eisfeld K, Schlegelberger B, Klaes R, Steinemann D. Lühmann JL, et al. Among authors: auber b. Am J Med Genet A. 2023 Jul;191(7):1849-1857. doi: 10.1002/ajmg.a.63215. Epub 2023 Apr 20. Am J Med Genet A. 2023. PMID: 37081310

2

Consider family history.

Morlot S, Auber B, Hille-Betz U, Pertschy S, Steinemann D, Schlegelberger B. Morlot S, et al. Among authors: auber b. Dtsch Arztebl Int. 2014 May 30;111(22):403-4. doi: 10.3238/arztebl.2014.0403b. Dtsch Arztebl Int. 2014. PMID: 24980567 Free PMC article. No abstract available.

3

GT198 (PSMC3IP) germline variants in early-onset breast cancer patients from hereditary breast and ovarian cancer families.

Schubert S, Ripperger T, Rood M, Petkidis A, Hofmann W, Frye-Boukhriss H, Tauscher M, Auber B, Hille-Betz U, Illig T, Schlegelberger B, Steinemann D. Schubert S, et al. Among authors: auber b. Genes Cancer. 2017 Jan;8(1-2):472-483. doi: 10.18632/genesandcancer.132. Genes Cancer. 2017. PMID: 28435519 Free PMC article.

4

Diagnosis of monogenic liver diseases in childhood by next-generation sequencing.

Stalke A, Skawran B, Auber B, Illig T, Schlegelberger B, Junge N, Goldschmidt I, Leiskau C, von Neuhoff N, Baumann U, Pfister ED. Stalke A, et al. Among authors: auber b. Clin Genet. 2018 Mar;93(3):665-670. doi: 10.1111/cge.13120. Epub 2017 Dec 12. Clin Genet. 2018. PMID: 28776642

5

MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies.

Ripperger T, Hofmann W, Koch JC, Shirneshan K, Haase D, Wulf G, Issing PR, Karnebogen M, Schmidt G, Auber B, Schlegelberger B, Illig T, Zirn B, Steinemann D. Ripperger T, et al. Among authors: auber b. Haematologica. 2018 Feb;103(2):e55-e58. doi: 10.3324/haematol.2017.178723. Epub 2017 Nov 2. Haematologica. 2018. PMID: 29097497 Free PMC article. No abstract available.

6

Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma.

Scholz C, Golas MM, Weber RG, Hartmann C, Lehmann U, Sahm F, Schmidt G, Auber B, Sturm M, Schlegelberger B, Illig T, Steinemann D, Hofmann W. Scholz C, et al. Among authors: auber b. Clin Genet. 2018 Jul;94(1):185-186. doi: 10.1111/cge.13216. Epub 2018 Mar 2. Clin Genet. 2018. PMID: 29498415

7

KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition?

Behnert A, Auber B, Steinemann D, Frühwald MC, Huisinga C, Hussein K, Kratz C, Ripperger T. Behnert A, et al. Among authors: auber b. Am J Med Genet A. 2018 Jun;176(6):1449-1454. doi: 10.1002/ajmg.a.38724. Epub 2018 Apr 25. Am J Med Genet A. 2018. PMID: 29696793

8

Two cancer-predisposing variants in one family: Incidental finding of a fumarate hydrogenase (FH) germline variant in a family with Li-Fraumeni syndrome.

Pahl L, Beier R, von Neuhoff N, Auber B, Höfs M, Prott EC, Schlegelberger B, Reinhardt D, Steinemann D. Pahl L, et al. Among authors: auber b. Pediatr Blood Cancer. 2018 Oct;65(10):e27254. doi: 10.1002/pbc.27254. Epub 2018 Jun 12. Pediatr Blood Cancer. 2018. PMID: 29893455 No abstract available.

9

Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.

Penkert J, Schmidt G, Hofmann W, Schubert S, Schieck M, Auber B, Ripperger T, Hackmann K, Sturm M, Prokisch H, Hille-Betz U, Mark D, Illig T, Schlegelberger B, Steinemann D. Penkert J, et al. Among authors: auber b. Breast Cancer Res. 2018 Aug 7;20(1):87. doi: 10.1186/s13058-018-1011-1. Breast Cancer Res. 2018. PMID: 30086788 Free PMC article.

10

A tandem duplication of BRCA1 exons 1-19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome.

Du C, Mark D, Wappenschmidt B, Böckmann B, Pabst B, Chan S, Cao H, Morlot S, Scholz C, Auber B, Rhiem K, Schmutzler R, Illig T, Schlegelberger B, Steinemann D. Du C, et al. Among authors: auber b. Breast Cancer Res Treat. 2018 Dec;172(3):561-569. doi: 10.1007/s10549-018-4957-x. Epub 2018 Sep 6. Breast Cancer Res Treat. 2018. PMID: 30191368

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