Hoefele J - Search Results

1

Expert consensus guidelines for the genetic diagnosis of Alport syndrome.

Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H. Savige J, et al. Among authors: hoefele j. Pediatr Nephrol. 2019 Jul;34(7):1175-1189. doi: 10.1007/s00467-018-3985-4. Epub 2018 Jul 9. Pediatr Nephrol. 2019. PMID: 29987460 Free article. Review.

2

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.

Patterson V, Ullah F, Bryant L, Griffin JN, Sidhu A, Saliganan S, Blaile M, Saenz MS, Smith R, Ellingwood S, Grange DK, Hu X, Mireguli M, Luo Y, Shen Y, Mulhern M, Zackai E, Ritter A, Izumi K, Hoefele J, Wagner M, Riedhammer KM, Seitz B, Robin NH, Goodloe D, Mignot C, Keren B, Cox H, Jarvis J, Hempel M, Gibson CF, Tran Mau-Them F, Vitobello A, Bruel AL, Sorlin A, Mehta S, Raymond FL, Gilmore K, Powell BC, Weck K, Li C, Vulto-van Silfhout AT, Giacomini T, Mancardi MM, Accogli A, Salpietro V, Zara F, Vora NL, Davis EE, Burdine R, Bhoj E. Patterson V, et al. Among authors: hoefele j. Sci Adv. 2023 Apr 28;9(17):eade0631. doi: 10.1126/sciadv.ade0631. Epub 2023 Apr 26. Sci Adv. 2023. PMID: 37126546 Free PMC article.

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

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

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: 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

6

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

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: hoefele j. 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

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

9

The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome.

Macheroux EP, Braunisch MC, Pucci Pegler S, Satanovskij R, Riedhammer KM, Günthner R, Gross O, Nagel M, Renders L, Hoefele J. Macheroux EP, et al. Among authors: hoefele j. Front Pediatr. 2019 Nov 26;7:485. doi: 10.3389/fped.2019.00485. eCollection 2019. Front Pediatr. 2019. PMID: 31850286 Free PMC article.

10

Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial.

Boeckhaus J, Hoefele J, Riedhammer KM, Tönshoff B, Ehren R, Pape L, Latta K, Fehrenbach H, Lange-Sperandio B, Kettwig M, Hoyer P, Staude H, Konrad M, John U, Gellermann J, Hoppe B, Galiano M, Gessner M, Pohl M, Bergmann C, Friede T, Gross O; GPN Study Group and EARLY PRO-TECT Alport Investigators. Boeckhaus J, et al. Among authors: hoefele j. Clin Genet. 2021 Jan;99(1):143-156. doi: 10.1111/cge.13861. Epub 2020 Oct 25. Clin Genet. 2021. PMID: 33040356

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