Kraft F - Search Results

1

Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma.

Begemann M, Waszak SM, Robinson GW, Jäger N, Sharma T, Knopp C, Kraft F, Moser O, Mynarek M, Guerrini-Rousseau L, Brugieres L, Varlet P, Pietsch T, Bowers DC, Chintagumpala M, Sahm F, Korbel JO, Rutkowski S, Eggermann T, Gajjar A, Northcott P, Elbracht M, Pfister SM, Kontny U, Kurth I. Begemann M, et al. Among authors: kraft f. J Clin Oncol. 2020 Jan 1;38(1):43-50. doi: 10.1200/JCO.19.00577. Epub 2019 Oct 14. J Clin Oncol. 2020. PMID: 31609649 Free PMC article.

2

Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers.

Soellner L, Kraft F, Sauer S, Begemann M, Kurth I, Elbracht M, Eggermann T. Soellner L, et al. Among authors: kraft f. Eur J Hum Genet. 2019 Jan;27(1):42-48. doi: 10.1038/s41431-018-0269-1. Epub 2018 Sep 14. Eur J Hum Genet. 2019. PMID: 30218098 Free PMC article.

3

Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures.

Elbracht M, Kraft F, Begemann M, Holschbach P, Mull M, Kabat IM, Müller B, Häusler M, Kurth I, Hehr U. Elbracht M, et al. Among authors: kraft f. Mol Genet Genomic Med. 2018 Nov;6(6):1255-1260. doi: 10.1002/mgg3.490. Epub 2018 Nov 4. Mol Genet Genomic Med. 2018. PMID: 30393983 Free PMC article.

4

DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.

Karsai G, Kraft F, Haag N, Korenke GC, Hänisch B, Othman A, Suriyanarayanan S, Steiner R, Knopp C, Mull M, Bergmann M, Schröder JM, Weis J, Elbracht M, Begemann M, Hornemann T, Kurth I. Karsai G, et al. Among authors: kraft f. J Clin Invest. 2019 Mar 1;129(3):1229-1239. doi: 10.1172/JCI124159. Epub 2019 Feb 11. J Clin Invest. 2019. PMID: 30620338 Free PMC article.

5

Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation.

Kraft F, Wesseler K, Begemann M, Kurth I, Elbracht M, Eggermann T. Kraft F, et al. Clin Epigenetics. 2019 Feb 15;11(1):30. doi: 10.1186/s13148-019-0629-x. Clin Epigenetics. 2019. PMID: 30770769 Free PMC article.

6

Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia.

Meyer R, Schacht S, Buschmann L, Begemann M, Kraft F, Haag N, Kochs A, Schulze A, Kurth I, Elbracht M. Meyer R, et al. Among authors: kraft f. Bone. 2019 Oct;127:446-451. doi: 10.1016/j.bone.2019.07.016. Epub 2019 Jul 17. Bone. 2019. PMID: 31325655

7

Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders: Characterization of Basic Mechanisms to Improve Clinical Management.

Wesseler K, Kraft F, Eggermann T. Wesseler K, et al. Among authors: kraft f. Int J Mol Sci. 2019 Aug 28;20(17):4219. doi: 10.3390/ijms20174219. Int J Mol Sci. 2019. PMID: 31466347 Free PMC article. Review.

8

HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence.

Hübner CT, Meyer R, Kenawy A, Ambrozaityte L, Matuleviciene A, Kraft F, Begemann M, Elbracht M, Eggermann T. Hübner CT, et al. Among authors: kraft f. J Clin Endocrinol Metab. 2020 Jul 1;105(7):dgaa273. doi: 10.1210/clinem/dgaa273. J Clin Endocrinol Metab. 2020. PMID: 32421827

9

Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting.

Eggermann T, Kraft F, Lausberg E, Ergezinger K, Kunstmann E. Eggermann T, et al. Among authors: kraft f. J Med Genet. 2021 Mar;58(3):173-176. doi: 10.1136/jmedgenet-2020-106868. Epub 2020 May 23. J Med Genet. 2021. PMID: 32447323

10

Long-read sequencing to understand genome biology and cell function.

Kraft F, Kurth I. Kraft F, et al. Int J Biochem Cell Biol. 2020 Sep;126:105799. doi: 10.1016/j.biocel.2020.105799. Epub 2020 Jul 3. Int J Biochem Cell Biol. 2020. PMID: 32629027 Review.

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