Hoefele J - Search Results

1

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: hoefele j. Pediatr Nephrol. 2018 Mar;33(3):433-437. doi: 10.1007/s00467-017-3811-4. Epub 2017 Oct 6. Pediatr Nephrol. 2018. PMID: 29038887

2

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.

Bakey Z, Cabrera OA, Hoefele J, Antony D, Wu K, Stuck MW, Micha D, Eguether T, Smith AO, van der Wel NN, Wagner M, Strittmatter L, Beales PL, Jonassen JA, Thiffault I, Cadieux-Dion M, Boyes L, Sharif S, Tüysüz B, Dunstheimer D, Niessen HWM, Devine W, Lo CW, Mitchison HM, Schmidts M, Pazour GJ. Bakey Z, et al. Among authors: hoefele j. medRxiv [Preprint]. 2023 Feb 26:2023.02.23.23286106. doi: 10.1101/2023.02.23.23286106. medRxiv. 2023. Update in: PLoS Genet. 2023 Jun 14;19(6):e1010796. doi: 10.1371/journal.pgen.1010796 PMID: 36865301 Free PMC article. Updated. Preprint.

3

Novel heterozygous COL4A3 mutation in a family with late-onset ESRD.

Hoefele J, Lange-Sperandio B, Ruessmann D, Glöckner-Pagel J, Alberer M, Benz MR, Nagel M, Weber LT. Hoefele J, et al. Pediatr Nephrol. 2010 Aug;25(8):1539-42. doi: 10.1007/s00467-010-1467-4. Epub 2010 Feb 23. Pediatr Nephrol. 2010. PMID: 20177710

4

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

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

5

Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion.

Hoefele J, Nayir A, Chaki M, Imm A, Allen SJ, Otto EA, Hildebrandt F. Hoefele J, et al. Pediatr Nephrol. 2011 Jun;26(6):967-71. doi: 10.1007/s00467-011-1761-9. Epub 2011 Jan 22. Pediatr Nephrol. 2011. PMID: 21258817 Free PMC article.

6

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. 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

7

COL4A5-associated X-linked Alport syndrome in a female patient with early inner ear deafness due to a mutation in MYH9.

Strasser K, Hoefele J, Bergmann C, Büscher AK, Büscher R, Hoyer PF, Weber S. Strasser K, et al. Among authors: hoefele j. Nephrol Dial Transplant. 2012 Nov;27(11):4236-40. doi: 10.1093/ndt/gfs468. Nephrol Dial Transplant. 2012. PMID: 23144074

8

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. Gene. 2013 May 15;520(2):194-7. doi: 10.1016/j.gene.2013.02.031. Epub 2013 Mar 6. Gene. 2013. PMID: 23473829

9

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: hoefele j. Gene. 2013 Sep 10;526(2):474-7. doi: 10.1016/j.gene.2013.05.045. Epub 2013 May 31. Gene. 2013. PMID: 23732293

10

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: hoefele j. Pediatr Nephrol. 2016 Jan;31(1):73-81. doi: 10.1007/s00467-015-3167-6. Epub 2015 Aug 7. Pediatr Nephrol. 2016. PMID: 26248470

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