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1.
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).
Am J Med Genet A
; : e63638, 2024 May 23.
Article
in English
| MEDLINE | ID: mdl-38779990
2.
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.
J Am Soc Nephrol
; 32(3): 580-596, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33593823
3.
Case 9-2023: A 20-Year-Old Man with Shortness of Breath and Proteinuria.
N Engl J Med
; 388(12): 1127-1135, 2023 Mar 23.
Article
in English
| MEDLINE | ID: mdl-36947470
4.
Case 36-2023: A 19-Year-Old Man with Diabetes and Kidney Cysts.
N Engl J Med
; 389(21): 1993-2003, 2023 Nov 23.
Article
in English
| MEDLINE | ID: mdl-37991859
5.
Primary coenzyme Q10 nephropathy, a potentially treatable form of steroid-resistant nephrotic syndrome.
Pediatr Nephrol
; 36(11): 3515-3527, 2021 11.
Article
in English
| MEDLINE | ID: mdl-33479824
6.
Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease.
Am J Physiol Renal Physiol
; 319(6): F988-F999, 2020 12 01.
Article
in English
| MEDLINE | ID: mdl-33103447
7.
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.
J Am Soc Nephrol
; 30(2): 201-215, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30655312
8.
Mutations in SLC26A1 Cause Nephrolithiasis.
Am J Hum Genet
; 98(6): 1228-1234, 2016 06 02.
Article
in English
| MEDLINE | ID: mdl-27210743
9.
Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.
Nephrol Dial Transplant
; 34(3): 485-493, 2019 03 01.
Article
in English
| MEDLINE | ID: mdl-29534211
10.
Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.
Nephrol Dial Transplant
; 34(3): 474-485, 2019 03 01.
Article
in English
| MEDLINE | ID: mdl-30295827
11.
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
J Am Soc Nephrol
; 29(9): 2348-2361, 2018 09.
Article
in English
| MEDLINE | ID: mdl-30143558
12.
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
Kidney Int
; 93(1): 204-213, 2018 01.
Article
in English
| MEDLINE | ID: mdl-28893421
13.
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.
Am J Med Genet A
; 176(11): 2460-2465, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30079490
14.
Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.
Pediatr Nephrol
; 33(2): 305-314, 2018 02.
Article
in English
| MEDLINE | ID: mdl-28921387
15.
A small molecule screening to detect potential therapeutic targets in human podocytes.
Am J Physiol Renal Physiol
; 312(1): F157-F171, 2017 01 01.
Article
in English
| MEDLINE | ID: mdl-27760769
16.
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
Pediatr Nephrol
; 32(7): 1181-1192, 2017 Jul.
Article
in English
| MEDLINE | ID: mdl-28204945
17.
Genetic testing in steroid-resistant nephrotic syndrome: when and how?
Nephrol Dial Transplant
; 31(11): 1802-1813, 2016 11.
Article
in English
| MEDLINE | ID: mdl-26507970
18.
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
J Am Soc Nephrol
; 26(6): 1279-89, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25349199
19.
Let's Chalk About It: Introducing the TinyTalks Curriculum, a Paradigm for Short, Virtual Chalk Talks.
Acad Med
; 2024 Mar 25.
Article
in English
| MEDLINE | ID: mdl-38527049
20.
Staphylococcus Epidermidis as a Uropathogen in Children.
Urology
; 176: 183-186, 2023 Jun.
Article
in English
| MEDLINE | ID: mdl-36858321