Rump A - Search Results

1

A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies.

Schlegelberger B, Kreipe H, Lehmann U, Steinemann D, Ripperger T, Göhring G, Thomay K, Rump A, Di Donato N, Suttorp M. Schlegelberger B, et al. Among authors: rump a. Pediatr Blood Cancer. 2015 Aug;62(8):1481-4. doi: 10.1002/pbc.25486. Epub 2015 Mar 18. Pediatr Blood Cancer. 2015. PMID: 25787918

2

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Hackmann K, Rump A, Haas SA, Lemke JR, Fryns JP, Tzschach A, Wieczorek D, Albrecht B, Kuechler A, Ripperger T, Kobelt A, Oexle K, Tinschert S, Schrock E, Kalscheuer VM, Di Donato N. Hackmann K, et al. Among authors: rump a. Am J Med Genet A. 2016 Jan;170A(1):94-102. doi: 10.1002/ajmg.a.37378. Epub 2015 Sep 11. Am J Med Genet A. 2016. PMID: 26358559

3

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

Di Donato N, Rump A, Mirzaa GM, Alcantara D, Oliver A, Schrock E, Dobyns WB, O'Driscoll M. Di Donato N, et al. Among authors: rump a. Hum Mutat. 2016 Mar;37(3):242-5. doi: 10.1002/humu.22933. Epub 2015 Dec 15. Hum Mutat. 2016. PMID: 26593112 Free PMC article.

4

Pierpont syndrome: report of a new patient.

Kahlert AK, Weidensee S, Mackenroth L, Porrmann J, Rump A, Di Donato N, Schröck E, Tzschach A. Kahlert AK, et al. Among authors: rump a. Clin Dysmorphol. 2017 Oct;26(4):205-208. doi: 10.1097/MCD.0000000000000184. Clin Dysmorphol. 2017. PMID: 28562391

5

Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.

Podolska A, Kobelt A, Fuchs S, Hackmann K, Rump A, Schröck E, Kutsche K, Di Donato N. Podolska A, et al. Among authors: rump a. Am J Med Genet A. 2017 May;173(5):1334-1341. doi: 10.1002/ajmg.a.38183. Epub 2017 Mar 31. Am J Med Genet A. 2017. PMID: 28371302

6

PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome.

Abdin D, Rump A, Tzschach A, Sarnow K, Schröck E, Hackmann K, Di Donato N. Abdin D, et al. Among authors: rump a. Eur J Med Genet. 2019 Dec;62(12):103587. doi: 10.1016/j.ejmg.2018.11.021. Epub 2018 Nov 23. Eur J Med Genet. 2019. PMID: 30472487

7

Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.

Hackmann K, Kuhlee F, Betcheva-Krajcir E, Kahlert AK, Mackenroth L, Klink B, Di Donato N, Tzschach A, Kast K, Wimberger P, Schrock E, Rump A. Hackmann K, et al. Among authors: rump a. Breast Cancer Res Treat. 2016 Oct;159(3):585-90. doi: 10.1007/s10549-016-3956-z. Epub 2016 Aug 31. Breast Cancer Res Treat. 2016. PMID: 27581129

8

Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.

Gieldon L, Mackenroth L, Betcheva-Krajcir E, Rump A, Beck-Wödl S, Schallner J, Di Donato N, Schröck E, Tzschach A. Gieldon L, et al. Among authors: rump a. Am J Med Genet A. 2017 Sep;173(9):2545-2550. doi: 10.1002/ajmg.a.38348. Epub 2017 Aug 4. Am J Med Genet A. 2017. PMID: 28777483

9

Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.

Di Donato N, Rump A, Koenig R, Der Kaloustian VM, Halal F, Sonntag K, Krause C, Hackmann K, Hahn G, Schrock E, Verloes A. Di Donato N, et al. Among authors: rump a. Eur J Hum Genet. 2014 Feb;22(2):179-83. doi: 10.1038/ejhg.2013.130. Epub 2013 Jun 12. Eur J Hum Genet. 2014. PMID: 23756437 Free PMC article.

10

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability.

Hackmann K, Matko S, Gerlach EM, von der Hagen M, Klink B, Schrock E, Rump A, Di Donato N. Hackmann K, et al. Among authors: rump a. Eur J Hum Genet. 2013 Jan;21(1):112-4. doi: 10.1038/ejhg.2012.97. Epub 2012 Jun 6. Eur J Hum Genet. 2013. PMID: 22669415 Free PMC article.

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