Detalhe da pesquisa
1.
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.
J Am Soc Nephrol
; 34(6): 1105-1119, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36995132
2.
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
3.
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
4.
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
5.
Mutations in SLC26A1 Cause Nephrolithiasis.
Am J Hum Genet
; 98(6): 1228-1234, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27210743
6.
Severe digital malformations in a rare variant of fibrodysplasia ossificans progressiva.
Am J Med Genet A
; 179(7): 1310-1314, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31012264
7.
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
Kidney Int
; 93(1): 204-213, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28893421
8.
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.
Nephrol Dial Transplant
; 33(1): 85-94, 2018 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27708066
9.
Somapacitan, a once-weekly reversible albumin-binding GH derivative, in children with GH deficiency: A randomized dose-escalation trial.
Clin Endocrinol (Oxf)
; 87(4): 350-358, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28656605
10.
Mutations in DSTYK and dominant urinary tract malformations.
N Engl J Med
; 369(7): 621-9, 2013 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23862974
11.
The Child Health Care System of Macedonia.
J Pediatr
; 177S: S127-S137, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27666261
12.
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.
J Am Soc Nephrol
; 26(3): 543-51, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25296721
13.
LHX4 Gene Alterations: Patient Report and Review of the Literature.
Pediatr Endocrinol Rev
; 13(4): 749-55, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27464418
14.
Favorable Growth Hormone Treatment Response in a Young Boy with Achondroplasia.
Med Arch
; 70(2): 148-50, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27147792
15.
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.
Hum Mol Genet
; 22(8): 1625-31, 2013 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23335591
16.
Copy-number disorders are a common cause of congenital kidney malformations.
Am J Hum Genet
; 91(6): 987-97, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23159250
17.
Poststreptococcal glomerulonephritis in children with congenital anomalies of the kidney and urinary tract.
Ren Fail
; 37(9): 1440-3, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26335537
18.
Nephrolithiasis and Nephrocalcinosis in Children - Metabolic and Genetic Factors.
Pediatr Endocrinol Rev
; 13(1): 468-76, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26540764
19.
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
Am J Med Genet A
; 164A(7): 1713-33, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24782230
20.
Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation.
Ren Fail
; 36(4): 619-22, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24502542