Detalhe da pesquisa
1.
Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?
Clin Genet
; 105(4): 406-414, 2024 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38214412
2.
Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.
Pediatr Nephrol
; 39(6): 1847-1858, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196016
3.
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2.
Hum Genet
; 142(1): 73-88, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36066768
4.
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
Genet Med
; 25(3): 100351, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36571463
5.
Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies.
Genet Med
; 25(12): 100983, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37746849
6.
Recessive CHRM5 variant as a potential cause of neurogenic bladder.
Am J Med Genet A
; 191(8): 2083-2091, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37213061
7.
The Rationale of Complement Blockade of the MCPggaac Haplotype following Atypical Hemolytic Uremic Syndrome of Three Southeastern European Countries with a Literature Review.
Int J Mol Sci
; 24(17)2023 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37685848
8.
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.
Am J Hum Genet
; 105(6): 1286-1293, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31708116
9.
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
Genet Med
; 24(2): 384-397, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906446
10.
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.
Genet Med
; 24(2): 307-318, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906515
11.
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
Mol Psychiatry
; 26(6): 2013-2024, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32346159
12.
A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract.
Am J Med Genet A
; 188(1): 310-313, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34525250
13.
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.
Am J Med Genet A
; 188(5): 1355-1367, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35040250
14.
Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract.
Nephrol Dial Transplant
; 37(10): 1833-1843, 2022 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34473308
15.
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.
J Med Genet
; 58(7): 453-464, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32631816
16.
Distal renal tubular acidosis: ERKNet/ESPN clinical practice points.
Nephrol Dial Transplant
; 36(9): 1585-1596, 2021 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33914889
17.
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Am J Hum Genet
; 101(5): 789-802, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100090
18.
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).
Genet Med
; 22(10): 1673-1681, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32475988
19.
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies.
Am J Kidney Dis
; 76(4): 460-470, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32359821
20.
NEUTROPHIL GELATINASE-ASSOCIATED LIPOCALIN AS AN EARLY BIOMARKER OF ACUTE KIDNEY INJURY IN NEWBORNS.
Acta Clin Croat
; 59(1): 55-62, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32724275