Klein HG - Search Results

1

Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1.

Hoefele J, Wilhelm C, Schiesser M, Mack R, Heinrich U, Weber LT, Biskup S, Daumer-Haas C, Klein HG, Rost I. Hoefele J, et al. Among authors: klein hg. Gene. 2013 May 15;520(2):194-7. doi: 10.1016/j.gene.2013.02.031. Epub 2013 Mar 6. Gene. 2013. PMID: 23473829

2

A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome.

Hoefele J, Gabert M, Heinrich U, Benz K, Rompel O, Rost I, Klein HG, Kunstmann E. Hoefele J, et al. Among authors: klein hg. Eur J Med Genet. 2012 Mar;55(3):211-5. doi: 10.1016/j.ejmg.2012.01.011. Epub 2012 Jan 31. Eur J Med Genet. 2012. PMID: 22361651

3

Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome.

Beicht S, Strobl-Wildemann G, Rath S, Wachter O, Alberer M, Kaminsky E, Weber LT, Hinrichsen T, Klein HG, Hoefele J. Beicht S, et al. Among authors: klein hg. Gene. 2013 Sep 10;526(2):474-7. doi: 10.1016/j.gene.2013.05.045. Epub 2013 May 31. Gene. 2013. PMID: 23732293

4

Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.

Weber S, Strasser K, Rath S, Kittke A, Beicht S, Alberer M, Lange-Sperandio B, Hoyer PF, Benz MR, Ponsel S, Weber LT, Klein HG, Hoefele J. Weber S, et al. Among authors: klein hg. Pediatr Nephrol. 2016 Jun;31(6):941-55. doi: 10.1007/s00467-015-3302-4. Epub 2016 Jan 25. Pediatr Nephrol. 2016. PMID: 26809805

5

Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).

Hoefele J, Mayer K, Scholz M, Klein HG. Hoefele J, et al. Among authors: klein hg. Nephrol Dial Transplant. 2011 Jul;26(7):2181-8. doi: 10.1093/ndt/gfq720. Epub 2010 Nov 29. Nephrol Dial Transplant. 2011. PMID: 21115670

6

Truncating Wilms Tumor Suppressor Gene 1 Mutation in an XX Female with Adult-Onset Focal Segmental Glomerulosclerosis and Streak Ovaries: A Case Report.

Hoefele J, Kemper MJ, Schoenermarck U, Mueller S, Klein HG, Lemke A. Hoefele J, et al. Among authors: klein hg. Nephron. 2017;135(1):72-76. doi: 10.1159/000450709. Epub 2016 Oct 5. Nephron. 2017. PMID: 27701157

7

Mutations in INF2 may be associated with renal histology other than focal segmental glomerulosclerosis.

Büscher AK, Celebi N, Hoyer PF, Klein HG, Weber S, Hoefele J. Büscher AK, et al. Among authors: klein hg. Pediatr Nephrol. 2018 Mar;33(3):433-437. doi: 10.1007/s00467-017-3811-4. Epub 2017 Oct 6. Pediatr Nephrol. 2018. PMID: 29038887

8

Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease.

Hoefele J, Mayer K, Marschall C, Alberer M, Klein HG, Kirschstein M. Hoefele J, et al. Among authors: klein hg. World J Pediatr. 2016 Nov;12(4):501-503. doi: 10.1007/s12519-016-0014-1. Epub 2016 Apr 8. World J Pediatr. 2016. PMID: 27059743

9

Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing.

Weber S, Büscher AK, Hagmann H, Liebau MC, Heberle C, Ludwig M, Rath S, Alberer M, Beissert A, Zenker M, Hoyer PF, Konrad M, Klein HG, Hoefele J. Weber S, et al. Among authors: klein hg. Pediatr Nephrol. 2016 Jan;31(1):73-81. doi: 10.1007/s00467-015-3167-6. Epub 2015 Aug 7. Pediatr Nephrol. 2016. PMID: 26248470

10

Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis.

Braunisch MC, Büttner-Herold M, Günthner R, Satanovskij R, Riedhammer KM, Herr PM, Klein HG, Wahl D, Küchle C, Renders L, Heemann U, Schmaderer C, Hoefele J. Braunisch MC, et al. Among authors: klein hg. Front Pediatr. 2018 Jun 12;6:171. doi: 10.3389/fped.2018.00171. eCollection 2018. Front Pediatr. 2018. PMID: 29946535 Free PMC article.

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