Schlesner M - Search Results

1

Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency.

Simm F, Griesbeck A, Choukair D, Weiß B, Paramasivam N, Klammt J, Schlesner M, Wiemann S, Martinez C, Hoffmann GF, Pfäffle RW, Bettendorf M, Rappold GA. Simm F, et al. Among authors: schlesner m. Genet Med. 2018 Jul;20(7):728-736. doi: 10.1038/gim.2017.165. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29261175 Free article.

2

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.

Evers C, Paramasivam N, Hinderhofer K, Fischer C, Granzow M, Schmidt-Bacher A, Eils R, Steinbeisser H, Schlesner M, Moog U. Evers C, et al. Among authors: schlesner m. Eur J Hum Genet. 2015 Dec;23(12):1627-33. doi: 10.1038/ejhg.2015.46. Epub 2015 Mar 25. Eur J Hum Genet. 2015. PMID: 25804400 Free PMC article.

3

Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline.

Granzow M, Paramasivam N, Hinderhofer K, Fischer C, Chotewutmontri S, Kaufmann L, Evers C, Kotzaeridou U, Rohrschneider K, Schlesner M, Sturm M, Pinkert S, Eils R, Bartram CR, Bauer P, Moog U. Granzow M, et al. Among authors: schlesner m. Mol Cell Probes. 2015 Oct;29(5):323-9. doi: 10.1016/j.mcp.2015.05.012. Epub 2015 Jun 4. Mol Cell Probes. 2015. PMID: 26050939

4

Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.

Rafiullah R, Aslamkhan M, Paramasivam N, Thiel C, Mustafa G, Wiemann S, Schlesner M, Wade RC, Rappold GA, Berkel S. Rafiullah R, et al. Among authors: schlesner m. J Med Genet. 2016 Feb;53(2):138-44. doi: 10.1136/jmedgenet-2015-103179. Epub 2015 Nov 13. J Med Genet. 2016. PMID: 26566883

5

Paediatric and adult soft tissue sarcomas with NTRK1 gene fusions: a subset of spindle cell sarcomas unified by a prominent myopericytic/haemangiopericytic pattern.

Haller F, Knopf J, Ackermann A, Bieg M, Kleinheinz K, Schlesner M, Moskalev EA, Will R, Satir AA, Abdelmagid IE, Giedl J, Carbon R, Rompel O, Hartmann A, Wiemann S, Metzler M, Agaimy A. Haller F, et al. Among authors: schlesner m. J Pathol. 2016 Apr;238(5):700-10. doi: 10.1002/path.4701. J Pathol. 2016. PMID: 26863915

6

Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.

Evers C, Kaufmann L, Seitz A, Paramasivam N, Granzow M, Karch S, Fischer C, Hinderhofer K, Gdynia G, Elsässer M, Pinkert S, Schlesner M, Bartram CR, Moog U. Evers C, et al. Among authors: schlesner m. Am J Med Genet A. 2016 Jun;170(6):1502-9. doi: 10.1002/ajmg.a.37632. Epub 2016 Mar 26. Am J Med Genet A. 2016. PMID: 27016154

7

Pedigree based DNA sequencing pipeline for germline genomes of cancer families.

Försti A, Kumar A, Paramasivam N, Schlesner M, Catalano C, Dymerska D, Lubinski J, Eils R, Hemminki K. Försti A, et al. Among authors: schlesner m. Hered Cancer Clin Pract. 2016 Aug 9;14:16. doi: 10.1186/s13053-016-0058-1. eCollection 2016. Hered Cancer Clin Pract. 2016. PMID: 27508007 Free PMC article.

8

TALEN/CRISPR-mediated engineering of a promoterless anti-viral RNAi hairpin into an endogenous miRNA locus.

Senís E, Mockenhaupt S, Rupp D, Bauer T, Paramasivam N, Knapp B, Gronych J, Grosse S, Windisch MP, Schmidt F, Theis FJ, Eils R, Lichter P, Schlesner M, Bartenschlager R, Grimm D. Senís E, et al. Among authors: schlesner m. Nucleic Acids Res. 2017 Jan 9;45(1):e3. doi: 10.1093/nar/gkw805. Epub 2016 Sep 9. Nucleic Acids Res. 2017. PMID: 27614072 Free PMC article.

9

Recurrent Somatic PDGFRB Mutations in Sporadic Infantile/Solitary Adult Myofibromas But Not in Angioleiomyomas and Myopericytomas.

Agaimy A, Bieg M, Michal M, Geddert H, Märkl B, Seitz J, Moskalev EA, Schlesner M, Metzler M, Hartmann A, Wiemann S, Michal M, Mentzel T, Haller F. Agaimy A, et al. Among authors: schlesner m. Am J Surg Pathol. 2017 Feb;41(2):195-203. doi: 10.1097/PAS.0000000000000752. Am J Surg Pathol. 2017. PMID: 27776010

10

DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

Dikow N, Granzow M, Graul-Neumann LM, Karch S, Hinderhofer K, Paramasivam N, Behl LJ, Kaufmann L, Fischer C, Evers C, Schlesner M, Eils R, Borck G, Zweier C, Bartram CR, Carey JC, Moog U. Dikow N, et al. Among authors: schlesner m. Am J Med Genet A. 2017 May;173(5):1369-1373. doi: 10.1002/ajmg.a.38164. Epub 2017 Mar 29. Am J Med Genet A. 2017. PMID: 28371085

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