Neumann HP - Search Results

1

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, van Reeuwijk J, Letteboer SJ, Sang L, Giles RH, Liu Q, Coene KL, Estrada-Cuzcano A, Collin RW, McLaughlin HM, Held S, Kasanuki JM, Ramaswami G, Conte J, Lopez I, Washburn J, Macdonald J, Hu J, Yamashita Y, Maher ER, Guay-Woodford LM, Neumann HP, Obermüller N, Koenekoop RK, Bergmann C, Bei X, Lewis RA, Katsanis N, Lopes V, Williams DS, Lyons RH, Dang CV, Brito DA, Dias MB, Zhang X, Cavalcoli JD, Nürnberg G, Nürnberg P, Pierce EA, Jackson PK, Antignac C, Saunier S, Roepman R, Dollfus H, Khanna H, Hildebrandt F. Otto EA, et al. Among authors: neumann hp. Nat Genet. 2010 Oct;42(10):840-50. doi: 10.1038/ng.662. Epub 2010 Sep 12. Nat Genet. 2010. PMID: 20835237 Free PMC article.

2

von Hippel-Lindau disease: a clinical and scientific review.

Maher ER, Neumann HP, Richard S. Maher ER, et al. Among authors: neumann hp. Eur J Hum Genet. 2011 Jun;19(6):617-23. doi: 10.1038/ejhg.2010.175. Epub 2011 Mar 9. Eur J Hum Genet. 2011. PMID: 21386872 Free PMC article. Review.

3

Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene.

Hoefele J, Otto E, Felten H, Kühn K, Bley TA, Zäuner I, Hildebrandt F, Neumann HP. Hoefele J, et al. Among authors: neumann hp. Am J Kidney Dis. 2004 Feb;43(2):358-64. doi: 10.1053/j.ajkd.2003.10.023. Am J Kidney Dis. 2004. PMID: 14750102

4

Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.

Wolf MT, Mucha BE, Attanasio M, Zalewski I, Karle SM, Neumann HP, Rahman N, Bader B, Baldamus CA, Otto E, Witzgall R, Fuchshuber A, Hildebrandt F. Wolf MT, et al. Among authors: neumann hp. Kidney Int. 2003 Nov;64(5):1580-7. doi: 10.1046/j.1523-1755.2003.00269.x. Kidney Int. 2003. PMID: 14531790 Free article.

5

Genetic stratification of inherited and sporadic phaeochromocytoma and paraganglioma: implications for precision medicine.

Casey R, Neumann HPH, Maher ER. Casey R, et al. Among authors: neumann hph. Hum Mol Genet. 2020 Oct 20;29(R2):R128-R137. doi: 10.1093/hmg/ddaa201. Hum Mol Genet. 2020. PMID: 33059362 Free PMC article. Review.

6

Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis.

Luchetti A, Walsh D, Rodger F, Clark G, Martin T, Irving R, Sanna M, Yao M, Robledo M, Neumann HP, Woodward ER, Latif F, Abbs S, Martin H, Maher ER. Luchetti A, et al. Among authors: neumann hp. Int J Endocrinol. 2015;2015:138573. doi: 10.1155/2015/138573. Epub 2015 Mar 25. Int J Endocrinol. 2015. PMID: 25883647 Free PMC article.

7

Evaluation of a functional epigenetic approach to identify promoter region methylation in phaeochromocytoma and neuroblastoma.

Margetts CD, Morris M, Astuti D, Gentle DC, Cascon A, McRonald FE, Catchpoole D, Robledo M, Neumann HP, Latif F, Maher ER. Margetts CD, et al. Among authors: neumann hp. Endocr Relat Cancer. 2008 Sep;15(3):777-86. doi: 10.1677/ERC-08-0072. Epub 2008 May 22. Endocr Relat Cancer. 2008. PMID: 18499731 Free PMC article.

8

Renal cancer in von Hippel-Lindau disease and related syndromes.

Bausch B, Jilg C, Gläsker S, Vortmeyer A, Lützen N, Anton A, Eng C, Neumann HP. Bausch B, et al. Among authors: neumann hp. Nat Rev Nephrol. 2013 Sep;9(9):529-38. doi: 10.1038/nrneph.2013.144. Epub 2013 Jul 30. Nat Rev Nephrol. 2013. PMID: 23897319 Review.

9

Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II.

Neumann HP, Eng C, Mulligan LM, Glavac D, Zäuner I, Ponder BA, Crossey PA, Maher ER, Brauch H. Neumann HP, et al. JAMA. 1995 Oct 11;274(14):1149-51. JAMA. 1995. PMID: 7563486

10

Late occurrence of cysts in autosomal dominant medullary cystic kidney disease.

Neumann HP, Zäuner I, Strahm B, Bender BU, Schollmeyer P, Blum U, Rohrbach R, Hildebrandt F. Neumann HP, et al. Nephrol Dial Transplant. 1997 Jun;12(6):1242-6. doi: 10.1093/ndt/12.6.1242. Nephrol Dial Transplant. 1997. PMID: 9198059

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