[1] |
Nicolaou N, Renkema KY, Bongers EM,et al.Genetic,environmental,and epigenetic factors involved in CAKUT[J]. Nat Rev Nephrol, 2015, 11(12): 720-731.DOI: 10.1038/nrneph.2015.140.
|
[2] |
van der Ven AT, Vivante A, Hildebrandt F.Novel insights into the pathogenesis of monogenic congenital anomalies of the kidney and urinary tract [J]. J Am Soc Nephrol, 2018, 29(1): 36-50.DOI: 10.1681/ASN.2017050561.
|
[3] |
Sanna-Cherchi S, Kiryluk K, Burgess KE,et al.Copy-number disorders are a common cause of congenital kidney malformations[J]. Am J Hum Genet, 2012, 91(6): 987-997.DOI: 10.1016/j.ajhg.2012.10.007.
|
[4] |
Nguyen HT, Phelps A, Coley B,et al.2021 update on the urinary tract dilation (UTD) classification system:clarifications,review of the literature,and practical suggestions[J]. Pediatr Radiol, 2022.DOI: 10.1007/s00247-021-05263-w.
|
[5] |
|
[6] |
Riggs ER, Andersen EF, Cherry AM,et al.Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) [J]. Genet Med, 2020, 22(2): 245-257.DOI: 10.1038/s41436-019-0686-8.
|
[7] |
Richards S, Aziz N, Bale S,et al.Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology [J]. Genet Med, 2015, 17(5): 405-424.DOI: 10.1038/gim.2015.30.
|
[8] |
|
[9] |
Petrovski S, Aggarwal V, Giordano JL,et al.Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study[J]. Lancet, 2019, 393(10173): 758-767.DOI: 10.1016/S0140-6736(18)32042-7.
|
[10] |
Lei TY, Fu F, Li R,et al.Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract [J]. Nephrol Dial Transplant, 2017, 32(10): 1665-1675.DOI: 10.1093/ndt/gfx031.
|
[11] |
Rasmussen M, Sunde L, Nielsen ML,et al.Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies [J]. Clin Genet, 2018, 93(4): 860-869.DOI: 10.1111/cge.13185.
|
[12] |
Shuster S, Keunen J, Shannon P,et al.Prenataldetection of isolated bilateral hyperechogenic kidneys: etiologies and outcomes [J]. Prenat Diagn, 2019, 39(9): 693-700.DOI: 10.1002/pd.5418.
|
[13] |
Gondra L, Décramer S, Chalouhi GE,et al.Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation[J]. Pediatr Nephrol, 2016, 31(10): 1705-1708.DOI: 10.1007/s00467-016-3421-6.
|
[14] |
Hureaux M, Molin A, Jay N,et al.Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations [J]. Pediatr Nephrol, 2018, 33(10): 1723-1729.DOI: 10.1007/s00467-018-3998-z.
|
[15] |
Gimpel C, Avni FE, Bergmann C, et al. Perinatal diagnosis,management,and follow-up of cystic renal diseases: a clinical practice recommendation with systematic literature reviews[J]. JAMA Pediatr, 2018, 172(1): 74-86.DOI: 10.1001/jamapediatrics.2017.3938.
|
[16] |
Lee H, Deignan JL, Dorrani N,et al.Clinical exome sequencing for genetic identification of rare Mendelian disorders[J]. JAMA, 2014, 312(18): 1880-1887.DOI: 10.1001/jama.2014.14604.
|
[17] |
Strande NT, Berg JS.Defining the clinical value of a genomic diagnosis in the era of next-generation sequencing [J]. Annu Rev Genomics Hum Genet, 2016(17): 303-332.DOI: 10.1146/annurev-genom-083115-022348.
|