Omran H - Search Results

1

Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy.

Rudnik-Schöneborn S, Goebel HH, Schlote W, Molaian S, Omran H, Ketelsen U, Korinthenberg R, Wenzel D, Lauffer H, Kreiss-Nachtsheim M, Wirth B, Zerres K. Rudnik-Schöneborn S, et al. Among authors: omran h. Neurology. 2003 Mar 25;60(6):983-7. doi: 10.1212/01.wnl.0000052788.39340.45. Neurology. 2003. PMID: 12654964

2

Probable Opitz trigonocephaly C syndrome with medulloblastoma.

Omran H, Hildebrandt F, Korinthenberg R, Brandis M. Omran H, et al. Am J Med Genet. 1997 Apr 14;69(4):395-9. Am J Med Genet. 1997. PMID: 9098489

3

Axonal neuropathy and predominance of type II myofibers in infantile spinal muscular atrophy.

Omran H, Ketelsen UP, Heinen F, Sauer M, Rudnik-Schöneborn S, Wirth B, Zerres K, Kratzer W, Korinthenberg R. Omran H, et al. J Child Neurol. 1998 Jul;13(7):327-31. doi: 10.1177/088307389801300704. J Child Neurol. 1998. PMID: 9701481

4

Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease.

Horváth J, Ketelsen UP, Geibel-Zehender A, Boehm N, Olbrich H, Korinthenberg R, Omran H. Horváth J, et al. Among authors: omran h. Neuropediatrics. 2003 Jun;34(5):270-3. doi: 10.1055/s-2003-43262. Neuropediatrics. 2003. PMID: 14598234

5

Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.

Kubisch C, Ketelsen UP, Goebel I, Omran H. Kubisch C, et al. Among authors: omran h. Ann Neurol. 2005 Feb;57(2):303-4. doi: 10.1002/ana.20350. Ann Neurol. 2005. PMID: 15668980 No abstract available.

6

Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy.

Schorling DC, Kölbel H, Hentschel A, Pechmann A, Meyer N, Wirth B, Rombo R; SMArtCARE consortium; Sickmann A, Kirschner J, Schara-Schmidt U, Lochmüller H, Roos A. Schorling DC, et al. Eur J Neurol. 2022 Jul;29(7):2084-2096. doi: 10.1111/ene.15331. Epub 2022 May 4. Eur J Neurol. 2022. PMID: 35318785

7

Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene.

Omran H, Häffner K, Völkel A, Kuehr J, Ketelsen UP, Ross UH, Konietzko N, Wienker T, Brandis M, Hildebrandt F. Omran H, et al. Am J Respir Cell Mol Biol. 2000 Nov;23(5):696-702. doi: 10.1165/ajrcmb.23.5.4257. Am J Respir Cell Mol Biol. 2000. PMID: 11062149

8

Congenital myopathy with arrest of myogenesis prior to formation of myotubes.

Ketelsen UP, Brand-Saberi B, Uhlenberg B, Wagner M, Laberke HG, Omran H. Ketelsen UP, et al. Among authors: omran h. Neuropediatrics. 2005 Aug;36(4):246-51. doi: 10.1055/s-2005-865773. Neuropediatrics. 2005. PMID: 16138248

9

Further evidence for a somatic KRAS mutation in a pilocytic astrocytoma.

Janzarik WG, Kratz CP, Loges NT, Olbrich H, Klein C, Schäfer T, Scheurlen W, Roggendorf W, Weiller C, Niemeyer C, Korinthenberg R, Pfister S, Omran H. Janzarik WG, et al. Among authors: omran h. Neuropediatrics. 2007 Apr;38(2):61-3. doi: 10.1055/s-2007-984451. Neuropediatrics. 2007. PMID: 17712732

10

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

Bergmann C, Fliegauf M, Brüchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kränzlin B, Nürnberg G, Becker C, Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, Nürnberg P, Gretz N, Lo C, Lienkamp S, Schäfer T, Walz G, Benzing T, Zerres K, Omran H. Bergmann C, et al. Among authors: omran h. Am J Hum Genet. 2008 Apr;82(4):959-70. doi: 10.1016/j.ajhg.2008.02.017. Epub 2008 Mar 27. Am J Hum Genet. 2008. PMID: 18371931 Free PMC article.

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