Klein HG - Search Results

1

Variant panorama in 1,385 index patients and sensitivity of expanded next-generation sequencing panels in arrhythmogenic disorders.

Marschall C, Moscu-Gregor A, Klein HG. Marschall C, et al. Among authors: klein hg. Cardiovasc Diagn Ther. 2019 Oct;9(Suppl 2):S292-S298. doi: 10.21037/cdt.2019.06.06. Cardiovasc Diagn Ther. 2019. PMID: 31737537 Free PMC article.

2

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

3

Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters.

Willimsky EK, Munzig A, Mayer K, Biskup S, Abicht A, Hoertnagel K, Voss HV, Klein HG, Rost I, Larsen LHG, Dahl HA, Hoelz H, Stuelpnagel CV, Borggraefe I. Willimsky EK, et al. Among authors: klein hg. Neuropediatrics. 2021 Apr;52(2):92-97. doi: 10.1055/s-0040-1712488. Epub 2020 Oct 21. Neuropediatrics. 2021. PMID: 33086385

4

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

5

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

6

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.

7

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

8

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

9

Novel KCNH1 Mutations Associated with Epilepsy: Broadening the Phenotypic Spectrum of KCNH1-Associated Diseases.

von Wrede R, Jeub M, Ariöz I, Elger CE, von Voss H, Klein HG, Becker AJ, Schoch S, Surges R, Kunz WS. von Wrede R, et al. Among authors: klein hg. Genes (Basel). 2021 Jan 21;12(2):132. doi: 10.3390/genes12020132. Genes (Basel). 2021. PMID: 33494179 Free PMC article.

10

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

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