Rompel O - Search Results

1

A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome.

Hoefele J, Gabert M, Heinrich U, Benz K, Rompel O, Rost I, Klein HG, Kunstmann E. Hoefele J, et al. Among authors: rompel o. Eur J Med Genet. 2012 Mar;55(3):211-5. doi: 10.1016/j.ejmg.2012.01.011. Epub 2012 Jan 31. Eur J Med Genet. 2012. PMID: 22361651

2

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).

Stephen LA, Tawamie H, Davis GM, Tebbe L, Nürnberg P, Nürnberg G, Thiele H, Thoenes M, Boltshauser E, Uebe S, Rompel O, Reis A, Ekici AB, McTeir L, Fraser AM, Hall EA, Mill P, Daudet N, Cross C, Wolfrum U, Jamra RA, Davey MG, Bolz HJ. Stephen LA, et al. Among authors: rompel o. Elife. 2015 Sep 19;4:e08077. doi: 10.7554/eLife.08077. Elife. 2015. PMID: 26386247 Free PMC article.

3

Predicting multiple sclerosis following isolated optic neuritis in children.

Heussinger N, Kontopantelis E, Rompel O, Paulides M, Trollmann R. Heussinger N, et al. Among authors: rompel o. Eur J Neurol. 2013 Sep;20(9):1292-6. doi: 10.1111/ene.12184. Epub 2013 May 12. Eur J Neurol. 2013. PMID: 23663558

4

Histopathological proof of the pathogenicity of a rare GFAP mutation in a patient with flaccid paraparesis.

Brackmann F, Coras R, Rössler K, Kraus C, Rompel O, Trollmann R. Brackmann F, et al. Among authors: rompel o. Brain Dev. 2018 Apr;40(4):330-333. doi: 10.1016/j.braindev.2017.11.005. Epub 2017 Nov 27. Brain Dev. 2018. PMID: 29191363

5

Diffuse Encephalopathy Associated with Isolated Cerebral Langerhans Cell Histiocytosis.

Rompel O, Buslei R, Hammon M, Dörr HG, Chada M, Nikkhah G, Uder M, Trollmann R. Rompel O, et al. Pediatr Neurol. 2016 Sep;62:62-5. doi: 10.1016/j.pediatrneurol.2016.05.006. Epub 2016 May 11. Pediatr Neurol. 2016. PMID: 27426422

6

Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding.

Brackmann F, Türk M, Gratzki N, Rompel O, Jungbluth H, Schröder R, Trollmann R. Brackmann F, et al. Among authors: rompel o. Neuromuscul Disord. 2018 Jan;28(1):54-58. doi: 10.1016/j.nmd.2017.09.009. Epub 2017 Sep 28. Neuromuscul Disord. 2018. PMID: 29169929

7

Myelin Oligodendrocyte Glycoprotein Antibody-Associated Neuromyelitis Optica Spectrum Disorder in a 6-Year-Old Boy.

Kamawal A, Hoerning S, Galiano M, Rompel O, Trollmann R. Kamawal A, et al. Among authors: rompel o. Klin Padiatr. 2019 Jul;231(4):220-223. doi: 10.1055/a-0860-5590. Epub 2019 May 7. Klin Padiatr. 2019. PMID: 31064015 English. No abstract available.

8

[Cavernous sinus thrombosis as a rare cause of exophthalmos in childhood : A case report].

Kamawal A, Schmidt MA, Rompel O, Gusek-Schneider GC, Mardin CY, Trollmann R. Kamawal A, et al. Among authors: rompel o. Ophthalmologe. 2017 May;114(5):457-461. doi: 10.1007/s00347-016-0317-6. Ophthalmologe. 2017. PMID: 27401467 German.

9

[Partial homonymous hemianopia of traumatic origin after riding a high-speed amusement ride].

Hohberger B, Trollmann R, Rompel O, Gölitz P, Gusek-Schneider GC. Hohberger B, et al. Among authors: rompel o. Ophthalmologe. 2017 Aug;114(8):741-744. doi: 10.1007/s00347-016-0373-y. Ophthalmologe. 2017. PMID: 27730295 German.

10

Dual-source computed tomography of the lung with spectral shaping and advanced iterative reconstruction: potential for maximum radiation dose reduction.

Wetzl M, May MS, Weinmann D, Hammon M, Treutlein C, Zeilinger M, Kiefer A, Trollmann R, Woelfle J, Uder M, Rompel O. Wetzl M, et al. Among authors: rompel o. Pediatr Radiol. 2020 Aug;50(9):1240-1248. doi: 10.1007/s00247-020-04714-0. Epub 2020 Jun 17. Pediatr Radiol. 2020. PMID: 32556576 Free PMC article.

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