| 1 |
Deletion in the Cobalamin Synthetase W Domain-Containing Protein 1 Gene Is associated with Congenital Anomalies of the Kidney and Urinary Tract.
61
|
Kanda S...Hattori M
|
31862704 |
2020 |
| 2 |
Use of sildenafil in an infant with persistent pulmonary hypertension secondary to lung and renal hypoplasia - a case report.
61
|
Lavie-Nevo K...Ting JY
|
31690278 |
2019 |
| 3 |
Ask-Upmark Kidney, Imaging Features.
61
|
Mittal A...Sureka B
|
31880582 |
2019 |
| 4 |
Long-term outcome of kidney transplantation in patients with congenital anomalies of the kidney and urinary tract.
61
|
McKay AM...Kennedy SE
|
31309282 |
2019 |
| 5 |
In vivo measurements of kidney glomerular number and size in healthy and Os/+ mice using MRI.
61
|
Baldelomar EJ...Bennett KM
|
31339774 |
2019 |
| 6 |
RMND1 mutations in two siblings: Severe renal hypoplasia but different levels of extrarenal abnormality severity: The ethics of decision making.
61
|
Broenen E...Bacchetta J
|
31506229 |
2019 |
| 7 |
[Congenital abnormalities of the optic disc].
61
|
Denis D...Lebranchu P
|
30935696 |
2019 |
| 8 |
New insights into the role of HNF-1β in kidney (patho)physiology.
61
|
Ferre S...Igarashi P
|
29961928 |
2019 |
| 9 |
Urinary bladder agenesis and renal hypoplasia potentially related to in utero Zika virus infection.
61
|
Villamil-Gomez WE...Rodriguez-Morales AJ
|
31129423 |
2019 |
| 10 |
SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.
61
|
Kim JH...Ahn EE
|
31005274 |
2019 |
| 11 |
Diverse phenotypes in children with PAX2-related disorder.
61
|
Deng H...Ding J
|
31060108 |
2019 |
| 12 |
Noncoding rare variants of TBX6 in congenital anomalies of the kidney and urinary tract.
61
|
Dong S...Zhang F
|
30604070 |
2019 |
| 13 |
Prenatal findings and molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3 encompassing PBX1 gene.
61
|
Sun M...Liu Y
|
30910156 |
2019 |
| 14 |
Unilateral renal artery stenosis presented with hyponatremic-hypertensive syndrome - case report and literature review.
61
|
Ding JJ...Tseng MH
|
30791890 |
2019 |
| 15 |
DNA Methyltransferase 1 Controls Nephron Progenitor Cell Renewal and Differentiation.
61
|
Wanner N...Huber TB
|
30518531 |
2019 |
| 16 |
Hypertension secondary to renal hypoplasia presenting as acute heart failure in a newborn.
61
|
Deitrick J...Vasylyeva T
|
31061719 |
2019 |
| 17 |
Persistent Primary Cytomegalovirus Infection After Deceased Donor Kidney Transplant: Ganciclovir Susceptibility of Human Cytomegalovirus With UL97 D605E Mutation: A Case Report.
61
|
Nawashiro Y...Hisano M
|
30577289 |
2018 |
| 18 |
Development of antibody mediated rejection shortly after acute cellular rejection in a pediatric kidney transplantation recipient.
61
|
Okada M...Ito S
|
29949115 |
2018 |
| 19 |
Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?
61
|
Negrisolo S...Murer L
|
29973660 |
2018 |
| 20 |
New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature.
61
|
Zhang L...Ma QS
|
30241513 |
2018 |
| 21 |
Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling.
61
|
Xing Y...Sun L
|
29808250 |
2018 |
| 22 |
Centrosome amplification disrupts renal development and causes cystogenesis.
61
|
Dionne LK...Mahjoub MR
|
29895697 |
2018 |
| 23 |
Obstetric outcomes and effects on babies born to women treated for epilepsy during pregnancy in a resource limited setting: a comparative cohort study.
61
|
Galappatthy P...Wijeyaratne CN
|
29898689 |
2018 |
| 24 |
A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure.
61
|
Shirakawa T...Dateki S
|
29318530 |
2018 |
| 25 |
Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature.
61
|
Ali MH...Maumenee IH
|
29199884 |
2018 |
| 26 |
[Fanconi-Bickel-Syndrom: a novel genetic disease in Original Braunvieh].
61
|
Joller S...Drogemuller C
|
29509141 |
2018 |
| 27 |
[Infrequent mutation in renal-coloboma syndrome: case report and review].
61
|
Ruiz Del Olmo Izuzquiza I...Justa Roldan ML
|
29333833 |
2018 |
| 28 |
Rethinking genotype-phenotype correlations in papillorenal syndrome: a case report on an unusual congenital camptodactyly and skeletal deformity with a heterogeneous PAX2 mutation of hexanucleotide duplication.
61
|
Liu J...Yu Z
|
29054766 |
2018 |
| 29 |
Outcomes of renal replacement therapy in boys with prune belly syndrome: findings from the ESPN/ERA-EDTA Registry.
61
|
Yalcinkaya F...Groothoff JW
|
28779237 |
2018 |
| 30 |
Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening.
61
|
Matsumoto M...Iijima K
|
29059480 |
2018 |
| 31 |
Unusual cause of anemia in a child with end-stage renal disease: Questions.
61
|
Chantarogh S...Pirojsakul K
|
28255802 |
2017 |
| 32 |
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
61
|
Slavotinek A...Shieh J
|
29036646 |
2017 |
| 33 |
[Renal abnormalities in Down syndrome: A review].
61
|
Niamien-Attai C...Cochat P
|
28893484 |
2017 |
| 34 |
Successful Treatment of Transplant Renal Artery Thrombosis With Systemic Infusion of Recombinant-Tissue-Plasminogen Activator After Renal Transplant.
61
|
Yoshida T...Matsuda T
|
26325476 |
2017 |
| 35 |
Doxycycline treatment in dialysis related amyloidosis: discrepancy between antalgic effect and inflammation, studied with FDG-positron emission tomography: a case report.
61
|
Piccoli GB...Boursot C
|
28874122 |
2017 |
| 36 |
A Sall1-NuRD interaction regulates multipotent nephron progenitors and is required for loop of Henle formation.
61
|
Basta JM...Rauchman M
|
28760814 |
2017 |
| 37 |
Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.
61
|
Afzal M...Flottmann R
|
28559208 |
2017 |
| 38 |
PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.
61
|
Le Tanno P...Coutton C
|
28270404 |
2017 |
| 39 |
KILT (Kidney and IVC Abnormalities with Leg Thrombosis) Syndrome in a 41-Years-Old Man with Loin Pain and Fever.
61
|
Fung JK...Man CW
|
28224089 |
2017 |
| 40 |
Transient Fanconi syndrome in two preterm infants with hydronephrosis and urinary tract infection.
61
|
Tominaga T...Awazu M
|
28509132 |
2017 |
| 41 |
Chronic kidney disease in the neonate: etiologies, management, and outcomes.
61
|
Misurac J
|
27733241 |
2017 |
| 42 |
Osteogenesis imperfecta complicated with renal hypoplasia leads to chronic kidney disease.
61
|
Konomoto T...Nunoi H
|
28317307 |
2017 |
| 43 |
A case of a surviving co-twin diagnosed with porencephaly and renal hypoplasia after a single intrauterine fetal death at 21 weeks of gestation in a monochorionic monoamniotic twin pregnancy.
61
|
Machino H...Fujii T
|
28116109 |
2017 |
| 44 |
Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles.
61
|
Riedhammer KM...Hoefele J
|
29226118 |
2017 |
| 45 |
Constitutive Activation of Smoothened in the Renal Collecting Ducts Leads to Renal Hypoplasia, Hydronephrosis, and Hydroureter.
61
|
Gupta DP...Chai OH
|
28564646 |
2017 |
| 46 |
Partitioning-Defective 1a/b Depletion Impairs Glomerular and Proximal Tubule Development.
61
|
Akchurin O...Reidy KJ
|
27185860 |
2016 |
| 47 |
Six2creFrs2α knockout mice are a novel model of renal cystogenesis.
61
|
Puri P...Bates CM
|
27853247 |
2016 |
| 48 |
Gata3 Hypomorphic Mutant Mice Rescued with a Yeast Artificial Chromosome Transgene Suffer a Glomerular Mesangial Cell Defect.
61
|
Moriguchi T...Engel JD
|
27296697 |
2016 |
| 49 |
Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability.
61
|
Mackenroth L...Tzschach A
|
27255444 |
2016 |
| 50 |
Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome.
61
|
Orge FH...Mitchell AL
|
26882209 |
2016 |
Rare renal diseases 
