Oexle K - Search Results

1

Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.

Harrer P, Schalk A, Shimura M, Baer S, Calmels N, Spitz MA, Warde MA, Schaefer E, Kittke VMS, Dincer Y, Wagner M, Dzinovic I, Berutti R, Sato T, Shirakawa T, Okazaki Y, Murayama K, Oexle K, Prokisch H, Mall V, Melčák I, Winkelmann J, Zech M. Harrer P, et al. Among authors: oexle k. Ann Neurol. 2023 Feb;93(2):330-335. doi: 10.1002/ana.26544. Epub 2022 Nov 18. Ann Neurol. 2023. PMID: 36333996

2

Recurrent spontaneous coronary dissections in a patient with a de novo fibrillin-1 mutation without Marfan syndrome.

von Hundelshausen P, Oexle K, Bidzhekov K, Schmitt MM, Hristov M, Blanchet X, Kaemmerer H, Matyas G, Meitinger T, Weber C. von Hundelshausen P, et al. Among authors: oexle k. Thromb Haemost. 2015 Mar;113(3):668-70. doi: 10.1160/TH14-11-0913. Epub 2014 Dec 18. Thromb Haemost. 2015. PMID: 25519456 No abstract available.

3

NADH in the pyramidal cell layer of hippocampal regions CA1 and CA3 upon selective inhibition and uncoupling of oxidative phosphorylation.

Riepe MW, Schmalzigaug K, Fink F, Oexle K, Ludolph AC. Riepe MW, et al. Among authors: oexle k. Brain Res. 1996 Feb 26;710(1-2):21-7. doi: 10.1016/0006-8993(95)01253-2. Brain Res. 1996. PMID: 8963661

4

Intracranial chordoma in a neonate.

Oexle K, Dammann O, Bechmann B, Vortmeyer AO, Probst EN. Oexle K, et al. Eur J Pediatr. 1992 May;151(5):336-8. doi: 10.1007/BF02113252. Eur J Pediatr. 1992. PMID: 1396886

5

Telomere length distribution and Southern blot analysis.

Oexle K. Oexle K. J Theor Biol. 1998 Feb 21;190(4):369-77. doi: 10.1006/jtbi.1997.0559. J Theor Biol. 1998. PMID: 9533871

6

Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3.

Hackmann K, Stadler A, Schallner J, Franke K, Gerlach EM, Schrock E, Rump A, Fauth C, Tinschert S, Oexle K. Hackmann K, et al. Among authors: oexle k. Am J Med Genet A. 2013 Dec;161A(12):3144-9. doi: 10.1002/ajmg.a.36155. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24039006

7

Prevalence of Age-Related Macular Degeneration in Europe: The Past and the Future.

Colijn JM, Buitendijk GHS, Prokofyeva E, Alves D, Cachulo ML, Khawaja AP, Cougnard-Gregoire A, Merle BMJ, Korb C, Erke MG, Bron A, Anastasopoulos E, Meester-Smoor MA, Segato T, Piermarocchi S, de Jong PTVM, Vingerling JR, Topouzis F, Creuzot-Garcher C, Bertelsen G, Pfeiffer N, Fletcher AE, Foster PJ, Silva R, Korobelnik JF, Delcourt C, Klaver CCW; EYE-RISK consortium; European Eye Epidemiology (E3) consortium. Colijn JM, et al. Ophthalmology. 2017 Dec;124(12):1753-1763. doi: 10.1016/j.ophtha.2017.05.035. Epub 2017 Jul 14. Ophthalmology. 2017. PMID: 28712657 Free PMC article.

8

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation.

Farag HG, Froehler S, Oexle K, Ravindran E, Schindler D, Staab T, Huebner A, Kraemer N, Chen W, Kaindl AM. Farag HG, et al. Among authors: oexle k. Orphanet J Rare Dis. 2013 Nov 14;8:178. doi: 10.1186/1750-1172-8-178. Orphanet J Rare Dis. 2013. PMID: 24228726 Free PMC article.

9

Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysis.

Matthaei A, Werner W, Gerlach EM, Koerner U, Tinschert S, Nitz I, Herr A, Rump A, Bartsch O, Hinkel KG, Schrock E, Oexle K. Matthaei A, et al. Among authors: oexle k. Eur J Med Genet. 2005 Jul-Sep;48(3):328-38. doi: 10.1016/j.ejmg.2005.04.024. Eur J Med Genet. 2005. PMID: 16179228

10

Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia.

Brakensiek K, Frye-Boukhriss H, Mälzer M, Abramowicz M, Bahr MJ, von Beckerath N, Bergmann C, Caselitz M, Holinski-Feder E, Muschke P, Oexle K, Strobl-Wildemann G, Wolff G, El-Harith EA, Stuhrmann M. Brakensiek K, et al. Among authors: oexle k. Clin Genet. 2008 Aug;74(2):171-7. doi: 10.1111/j.1399-0004.2008.01029.x. Epub 2008 May 21. Clin Genet. 2008. PMID: 18498373

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