1 |
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.
5
|
Lemire G...Sawyer SL
|
34145744 |
2021 |
2 |
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication.
53
62
|
Bernardini L...Dallapiccola B
|
19659764 |
2009 |
3 |
HDR syndrome: a novel "de novo" mutation in GATA3 gene.
53
62
|
Ferraris S...Ponzone A
|
19248180 |
2009 |
4 |
10p12.1 deletion: HDR phenotype without DGS2 features.
53
62
|
Benetti E...Artifoni L
|
19022243 |
2009 |
5 |
An unusual association of contralateral congenital small kidney, reduced renal function and hyperparathyroidism in sponge kidney patients: on the track of the molecular basis.
53
62
|
Gambaro G...D'Angelo A
|
15814540 |
2005 |
6 |
Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome.
53
62
|
Zahirieh A...Pei Y
|
15705923 |
2005 |
7 |
Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development.
53
62
|
Bohn S...Ryffel GU
|
12874457 |
2003 |
8 |
Glial cell line derived neurotrophic factor is expressed by epithelia of human renal dysplasia.
53
62
|
El-Ghoneimi A...Peuchmaur M
|
12441997 |
2002 |
9 |
Lack of aberrations of the BMP4, BMP2, and PTX1 genes in a patient with pituitary hypoplasia, os odontoideum, renal dysplasia, and right leg anomalies.
53
62
|
Goto M...Hayashi Y
|
12165803 |
2002 |
10 |
Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus.
53
62
|
Iwasaki N...Iwamoto Y
|
11317673 |
2001 |
11 |
Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene.
53
62
|
Salerno A...Kaplan BS
|
10654325 |
2000 |
12 |
Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).
53
62
|
Devriendt K...Leys A
|
9760197 |
1998 |
13 |
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.
53
62
|
Dreyer SD...Lee B
|
9590287 |
1998 |
14 |
Neurturin, a novel neurotrophic factor, is localized to mouse chromosome 17 and human chromosome 19p13.3.
53
62
|
Heuckeroth RO...Milbrandt J
|
9286710 |
1997 |
15 |
Zinner's syndrome: Masquerading as pyonephrotic ectopic kidney.
62
|
Ansari FM...Maurya MK
|
36340236 |
2023 |
16 |
Zinner syndrome in children: clinical presentation, imaging findings, diagnosis, and outcome.
62
|
Lin CC...Tsai JD
|
35332378 |
2022 |
17 |
Ultrasound and molecular prenatal diagnosis of Beckwith-Wiedemann syndrome: Two case reports.
62
|
de Vasconcelos Gaspar A...Ramos F
|
36281281 |
2022 |
18 |
Hypertension crisis as the first symptom of renovascular hypertension in children.
62
|
Xu L...Qin Y
|
36461036 |
2022 |
19 |
TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.
62
|
Li G...Wu N
|
36161696 |
2022 |
20 |
Utility of trio-based prenatal exome sequencing incorporating splice-site and mitochondrial genome assessment in pregnancies with fetal ultrasound anomalies: prospective cohort study.
62
|
Zhu X...Kong X
|
35726512 |
2022 |
21 |
Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD).
62
|
Sekine A...Muto S
|
36362756 |
2022 |
22 |
OHVIRA (Obstructed Hemivagina and Ipsilateral Renal Anomaly or Herlyn-Werner-Wunderlich syndrome): Is it time for age-specific management?
62
|
Zarfati A...Lucchetti MC
|
35487798 |
2022 |
23 |
Prenatal ultrasound-assisted identification of multiple malformations caused by a deletion in the long-arm end of chromosome 7 and review of the literature.
62
|
Zhao X...Tian R
|
33213225 |
2022 |
24 |
Pre-viable preterm premature rupture of membranes under 20 weeks of pregnancy: A retrospective cohort analysis for potential outcome predictors.
62
|
Kraft K...Reister F
|
36208524 |
2022 |
25 |
Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations.
62
|
Kohl S...Liebau MC
|
35772019 |
2022 |
26 |
Single institution experience of cloacal malformation.
62
|
Lane VA...Jaffray B
|
36384941 |
2022 |
27 |
Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report.
62
|
Tang P...Zhu J
|
36316881 |
2022 |
28 |
Congenital malformations of the urinary tract: progression to chronic renal disease.
62
|
Ibarra Rodriguez MR...Paredes Esteban RM
|
36217787 |
2022 |
29 |
Dilemma after termination of pregnancy due to urogenital fetal anomalies: Discrepancy between prenatal ultrasonographic diagnosis and autopsy.
62
|
Ozdemir O...Sen C
|
34951011 |
2022 |
30 |
NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination.
62
|
Ijaz A...Basit S
|
35987473 |
2022 |
31 |
Differentiating pediatric cystic nephroma from common renal multicystic lesions: A case report.
62
|
Zhou J...Gao Y
|
36308211 |
2022 |
32 |
Inverted-Y Ureteric Duplication With Paraureteric Diverticulum Presenting With Bladder Outlet Obstruction in an Infant- A Diagnostic Dilemma.
62
|
Gaur SKS...Sharma K
|
36283504 |
2022 |
33 |
Pop-off mechanisms as protective factors against chronic renal disease in children with posterior urethral valves.
62
|
Massaguer C...Garcia-Aparicio L
|
36217788 |
2022 |
34 |
NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist?
62
|
Mehawej C...Megarbane A
|
36215968 |
2022 |
35 |
Presence of Cervical Vertebral Anomalies with Concomitant Non-Communicating Hydrocephalus and Multicystic Kidney in a Female Fetus: Where VACTERL-H Meets MURCS.
62
|
Dracopoulos C...Weichert J
|
34689682 |
2022 |
36 |
Associated Anomalies and Complications of Multicystic Dysplastic Kidney.
62
|
Kopac M...Kordic R
|
36136083 |
2022 |
37 |
A case of right hypodysplastic kidney and ectopic ureter associated with bicornuate uterus in a prepubertal girl.
62
|
Nakamura M...Harita Y
|
36056295 |
2022 |
38 |
A Central Role of Telomere Dysfunction in the Formation of a Unique Translocation within the Sub-Telomere Region Resulting in Duplication and Partial Trisomy.
62
|
M'Kacher R...Jeandidier E
|
36292646 |
2022 |
39 |
Prenatal sonographic findings in a cohort of foetuses with a confirmed 22q11.2 microdeletion at a single Chinese Tertiary Centre.
62
|
Jing XY...Li DZ
|
35998262 |
2022 |
40 |
Clinical Features in Patients with Xq23 Microdeletion: A Case Report and Literature Review
62
|
Qin L...Tang LF
|
33535730 |
2022 |
41 |
Prenatal caffeine exposure induced renal developmental toxicity and transgenerational effect in rat offspring.
62
|
Zhao X...Ao Y
|
35537649 |
2022 |
42 |
Disruption of mitochondrial complex III in cap mesenchyme but not in ureteric progenitors results in defective nephrogenesis associated with amino acid deficiency.
62
|
Guan N...Haase VH
|
35341793 |
2022 |
43 |
[Prenatal screening and diagnosis for a fetus with mosaic sex chromosome abnormality].
62
|
Feng L...Tang L
|
35810439 |
2022 |
44 |
Utility of renal scintigraphy in diagnosis of multicystic dysplastic kidney.
62
|
Hannallah A...Vasquez E
|
35246854 |
2022 |
45 |
Concurrent Multicystic Dysplastic Kidney, Posterior Urethral Valves, and Obstructive Ureterocele in a Male Pediatric Patient: A Case Report.
62
|
Willis K...Keefe DT
|
35504454 |
2022 |
46 |
Peritoneal Dialysis and Inflammatory Demyelinating Polyneuropathy: A Correlation or Co-Incidence?
62
|
Bhuta K...Devkota K
|
36000097 |
2022 |
47 |
Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis.
62
|
Huang R...Liao C
|
35765027 |
2022 |
48 |
Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.
62
|
Viehl L...Wambach JA
|
35695966 |
2022 |
49 |
First case of two supernumerary markers derived from chromosome 5 and chromosome 8.
62
|
Giansante R...Guanciali Franchi P
|
35761408 |
2022 |
50 |
Ocular phenotype in a patient with PAX2 gene mutation-associated papillorenal syndrome.
62
|
Benador-Shen CL...Choi CS
|
34889688 |
2022 |