Omran H - Search Results

1

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

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

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

5

Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene.

Omran H, Sasmaz G, Häffner K, Volz A, Olbrich H, Melkaoui R, Otto E, Wienker TF, Korinthenberg R, Brandis M, Antignac C, Hildebrandt F. Omran H, et al. J Am Soc Nephrol. 2002 Jan;13(1):75-79. doi: 10.1681/ASN.V13175. J Am Soc Nephrol. 2002. PMID: 11752023

6

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

Olbrich H, Häffner K, Kispert A, Völkel A, Volz A, Sasmaz G, Reinhardt R, Hennig S, Lehrach H, Konietzko N, Zariwala M, Noone PG, Knowles M, Mitchison HM, Meeks M, Chung EM, Hildebrandt F, Sudbrak R, Omran H. Olbrich H, et al. Among authors: omran h. Nat Genet. 2002 Feb;30(2):143-4. doi: 10.1038/ng817. Epub 2002 Jan 14. Nat Genet. 2002. PMID: 11788826

7

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

8

Identification of the human CYS1 gene and candidate gene analysis in Boichis disease.

Fliegauf M, Fröhlich C, Horvath J, Olbrich H, Hildebrandt F, Omran H. Fliegauf M, et al. Among authors: omran h. Pediatr Nephrol. 2003 Jun;18(6):498-505. doi: 10.1007/s00467-003-1141-1. Epub 2003 May 6. Pediatr Nephrol. 2003. PMID: 12733055 Free article.

9

Genotype-phenotype correlations in PCD patients carrying DNAH5 mutations.

Kispert A, Petry M, Olbrich H, Volz A, Ketelsen UP, Horvath J, Melkaoui R, Omran H, Zariwala M, Noone PG, Knowles M. Kispert A, et al. Among authors: omran h. Thorax. 2003 Jun;58(6):552-4. doi: 10.1136/thorax.58.6.552-b. Thorax. 2003. PMID: 12775878 Free PMC article. No abstract available.

10

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H. Olbrich H, et al. Among authors: omran h. Nat Genet. 2003 Aug;34(4):455-9. doi: 10.1038/ng1216. Nat Genet. 2003. PMID: 12872122

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