Detalhe da pesquisa
1.
Clinical Significance of the Cystic Phenotype in Alport Syndrome.
Am J Kidney Dis
; 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38514012
2.
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.
Am J Obstet Gynecol
; 230(3): 368.e1-368.e12, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37717890
3.
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
4.
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
Clin Genet
; 104(2): 230-237, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37038048
5.
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.
J Am Soc Nephrol
; 32(4): 805-820, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597122
6.
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Kidney Int
; 98(6): 1589-1604, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32750457
7.
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
8.
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
N Engl J Med
; 376(8): 742-754, 2017 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28121514
9.
Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA.
Genet Med
; 22(2): 309-316, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31391534
10.
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.
Genet Res (Camb)
; 101: e3, 2019 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30829192
11.
Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature.
Am J Med Genet B Neuropsychiatr Genet
; 177(8): 687-690, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30345598
12.
Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis.
Radiol Med
; 122(11): 880-891, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28674909
13.
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
14.
Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis.
Kidney Int
; 87(6): 1223-9, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25565309
15.
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
16.
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Am J Hum Genet
; 101(6): 1034, 2017 12 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29220675
17.
Uromodulin: from monogenic to multifactorial diseases.
Nephrol Dial Transplant
; 30(8): 1250-6, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25228753
18.
Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis.
Prenat Diagn
; 35(11): 1117-27, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26213308
19.
Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis.
PLoS Genet
; 8(6): e1002765, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22737082
20.
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review.
Prenat Diagn
; 39(8): 652-655, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31158925