Omran H - Search Results

1

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.

Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, Banki NF, Shoemark A, Burgoyne T, Al Turki S, Hurles ME; UK10K Consortium; Köhler G, Schroeder J, Nürnberg G, Nürnberg P, Chung EM, Reinhardt R, Marthin JK, Nielsen KG, Mitchison HM, Omran H. Olbrich H, et al. Among authors: omran h. Am J Hum Genet. 2012 Oct 5;91(4):672-84. doi: 10.1016/j.ajhg.2012.08.016. Epub 2012 Sep 27. Am J Hum Genet. 2012. PMID: 23022101 Free PMC article.

2

Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. APN Study Group.

Hildebrandt F, Singh-Sawhney I, Schnieders B, Centofante L, Omran H, Pohlmann A, Schmaltz C, Wedekind H, Schubotz C, Antignac C, et al. Hildebrandt F, et al. Among authors: omran h. Am J Hum Genet. 1993 Dec;53(6):1256-61. Am J Hum Genet. 1993. PMID: 8250041 Free PMC article.

3

Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree.

Omran H, Fernandez C, Jung M, Häffner K, Fargier B, Villaquiran A, Waldherr R, Gretz N, Brandis M, Rüschendorf F, Reis A, Hildebrandt F. Omran H, et al. Am J Hum Genet. 2000 Jan;66(1):118-27. doi: 10.1086/302705. Am J Hum Genet. 2000. PMID: 10631142 Free PMC article.

4

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

5

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

6

Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36.

Schuermann MJ, Otto E, Becker A, Saar K, Rüschendorf F, Polak BC, Ala-Mello S, Hoefele J, Wiedensohler A, Haller M, Omran H, Nürnberg P, Hildebrandt F. Schuermann MJ, et al. Among authors: omran h. Am J Hum Genet. 2002 May;70(5):1240-6. doi: 10.1086/340317. Epub 2002 Mar 27. Am J Hum Genet. 2002. PMID: 11920287 Free PMC article.

7

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.

8

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

9

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

10

Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation.

Ibañez-Tallon I, Pagenstecher A, Fliegauf M, Olbrich H, Kispert A, Ketelsen UP, North A, Heintz N, Omran H. Ibañez-Tallon I, et al. Among authors: omran h. Hum Mol Genet. 2004 Sep 15;13(18):2133-41. doi: 10.1093/hmg/ddh219. Epub 2004 Jul 21. Hum Mol Genet. 2004. PMID: 15269178

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