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1.
Development of an automated estimation of foot process width using deep learning in kidney biopsies from patients with Fabry, minimal change, and diabetic kidney diseases.
Kidney Int
; 105(1): 165-176, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37774924
2.
The renal inflammatory network of nephronophthisis.
Hum Mol Genet
; 31(13): 2121-2136, 2022 07 07.
Article
in English
| MEDLINE | ID: mdl-35043953
3.
Cilia-localized LKB1 regulates chemokine signaling, macrophage recruitment, and tissue homeostasis in the kidney.
EMBO J
; 37(15)2018 08 01.
Article
in English
| MEDLINE | ID: mdl-29925518
4.
Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.
Kidney Int
; 99(2): 405-409, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33129895
5.
Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.
Pediatr Nephrol
; 36(8): 2361-2369, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33580824
6.
Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
PLoS Genet
; 14(10): e1007748, 2018 10.
Article
in English
| MEDLINE | ID: mdl-30365502
7.
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
PLoS Genet
; 14(5): e1007386, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29768408
8.
Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss.
J Am Soc Nephrol
; 31(4): 865-875, 2020 04.
Article
in English
| MEDLINE | ID: mdl-32127409
9.
Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease.
Pediatr Nephrol
; 35(6): 1125-1128, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32198635
10.
Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis.
Kidney Int
; 96(2): 350-362, 2019 08.
Article
in English
| MEDLINE | ID: mdl-30928021
11.
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
Am J Hum Genet
; 99(1): 174-87, 2016 Jul 07.
Article
in English
| MEDLINE | ID: mdl-27392076
12.
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
PLoS Genet
; 12(3): e1005894, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26967905
13.
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
Am J Hum Genet
; 95(6): 637-48, 2014 Dec 04.
Article
in English
| MEDLINE | ID: mdl-25466283
14.
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
Am J Hum Genet
; 94(6): 905-14, 2014 Jun 05.
Article
in English
| MEDLINE | ID: mdl-24882706
15.
Absence of cell surface expression of human ACE leads to perinatal death.
Hum Mol Genet
; 23(6): 1479-91, 2014 Mar 15.
Article
in English
| MEDLINE | ID: mdl-24163131
16.
Hepatocyte nuclear factor 1ß controls nephron tubular development.
Development
; 140(4): 886-96, 2013 Feb.
Article
in English
| MEDLINE | ID: mdl-23362349
17.
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Nat Genet
; 39(7): 875-81, 2007 Jul.
Article
in English
| MEDLINE | ID: mdl-17558409
18.
The swan-neck lesion: proximal tubular adaptation to oxidative stress in nephropathic cystinosis.
Am J Physiol Renal Physiol
; 308(10): F1155-66, 2015 May 15.
Article
in English
| MEDLINE | ID: mdl-25694483
19.
Improving mutation screening in familial hematuric nephropathies through next generation sequencing.
J Am Soc Nephrol
; 25(12): 2740-51, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-24854265
20.
The kidney as a reservoir for HIV-1 after renal transplantation.
J Am Soc Nephrol
; 25(2): 407-19, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24309185