Olbrich H - Search Results

1

Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease.

Tacke U, Olbrich H, Sass JO, Fekete A, Horvath J, Ziyeh S, Kleijer WJ, Rolland MO, Fisher S, Payne S, Vargiami E, Zafeiriou DI, Omran H. Tacke U, et al. Among authors: olbrich h. Neuropediatrics. 2005 Aug;36(4):252-5. doi: 10.1055/s-2005-865865. Neuropediatrics. 2005. PMID: 16138249

2

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. Among authors: olbrich h. J Am Soc Nephrol. 2002 Jan;13(1):75-79. doi: 10.1681/ASN.V13175. J Am Soc Nephrol. 2002. PMID: 11752023

3

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: olbrich 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.

4

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: olbrich 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.

5

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. Nat Genet. 2003 Aug;34(4):455-9. doi: 10.1038/ng1216. Nat Genet. 2003. PMID: 12872122

6

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: olbrich h. Neuropediatrics. 2003 Jun;34(5):270-3. doi: 10.1055/s-2003-43262. Neuropediatrics. 2003. PMID: 14598234

7

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.

Fliegauf M, Olbrich H, Horvath J, Wildhaber JH, Zariwala MA, Kennedy M, Knowles MR, Omran H. Fliegauf M, et al. Among authors: olbrich h. Am J Respir Crit Care Med. 2005 Jun 15;171(12):1343-9. doi: 10.1164/rccm.200411-1583OC. Epub 2005 Mar 4. Am J Respir Crit Care Med. 2005. PMID: 15750039 Free PMC article.

8

Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients.

Horváth J, Fliegauf M, Olbrich H, Kispert A, King SM, Mitchison H, Zariwala MA, Knowles MR, Sudbrak R, Fekete G, Neesen J, Reinhardt R, Omran H. Horváth J, et al. Among authors: olbrich h. Am J Respir Cell Mol Biol. 2005 Jul;33(1):41-7. doi: 10.1165/rcmb.2004-0335OC. Epub 2005 Apr 21. Am J Respir Cell Mol Biol. 2005. PMID: 15845866

9

Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.

Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf M, Loges NT, Schweitzer-Krantz S, Moebus R, Weiler P, Kispert A, Superti-Furga A, Wevers RA, Omran H. Sass JO, et al. Among authors: olbrich h. Am J Hum Genet. 2006 Mar;78(3):401-9. doi: 10.1086/500563. Epub 2006 Jan 18. Am J Hum Genet. 2006. PMID: 16465618 Free PMC article.

10

Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia.

Olbrich H, Horváth J, Fekete A, Loges NT, Storm van's Gravesande K, Blum A, Hörmann K, Omran H. Olbrich H, et al. Pediatr Res. 2006 Mar;59(3):418-22. doi: 10.1203/01.pdr.0000200809.21364.e2. Pediatr Res. 2006. PMID: 16492982

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