Results 21 to 30 of about 1,327,945 (260)

A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesis

Clinical Genetics, 2022
Congenital anomalies of the kidney and urinary tract (CAKUT) are a spectrum of abnormalities affecting morphogenesis of the kidneys and other structures of the urinary tract. Bilateral renal agenesis (BRA) is the most severe presentation of CAKUT.
M. Al-Hamed, Norah Altuwaijri, Nada Alsahan, Wafa Ali, F. Abdulwahab, F. Alzahrani, Nada Majrashi, F. Alkuraya   +7 more
semanticscholar   +1 more source

Intrahepatic persistent fetal right umbilical vein: a retrospective study [PDF]

, 2021
Introduction: To appraise the incidence and value of intrahepatic persistent right umbilical vein (PRUV). Methods: This was a single-center study. Records of all women with a prenatal diagnosis of intrahepatic PRUV were reviewed.
Di Meglio A., Di Meglio L., Di Meglio L., Locci M., Mastantuoni E., Raffone A., Riccardi C., Saccone G., Toscano P., Zullo F.   +9 more
core   +1 more source

A Biallelic Frameshift Mutation in Nephronectin Causes Bilateral Renal Agenesis in Humans

Journal of the American Society of Nephrology, 2021
Visual Abstract Significance Statement Bilateral renal agenesis (BRA) is a lethal form of congenital anomaly of the kidney and urinary tract, usually resulting in perinatal death or justifying termination of pregnancy.
Lei Dai, Jingzhi Li, Liangqun Xie, Weinan Wang, Yang Lu, M. Xie, Jingrui Huang, Kuifang Shen, Hui Yang, Chenlin Pei, Yanhua Zhao, Weishe Zhang   +11 more
semanticscholar   +1 more source

Renal agenesis with ureterocele, duplicated megaureter and translocation of seminal vesicle: a case report and review of the literature

Journal of Men's Health, 2022
Background: Renal agenesis is a congenital malformation that occurs due to the inhibition of metanephric blastema induction due to a decrease in ureteric bud activity.
Jae Joon Park, Woong Bin Kim, Kwang Woo Lee, Jun Mo Kim, Young Ho Kim, Ahrim Moon, Jae Heon Kim, Si Hyun Kim, Sang Wook Lee   +8 more
doaj   +1 more source

Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia

American Journal of Medical Genetics. Part A, 2021
WNT9B plays a key role in the development of the mammalian urogenital system. It is essential for the induction of mesonephric and metanephric tubules, the regulation of renal tubule morphogenesis, and the regulation of renal progenitor cell expansion ...
G. Lemire, B. Zheng, G. Ediae, Ruobing Zou, Priya T. Bhola, Caitlin Chisholm, J. de Nanassy, B. Lo, Chunyan Wang, S. Shril, Sherif M. El desoky, M. Shalaby, J. Kari, Xueqi Wang, K. Kernohan, K. Boycott, F. Hildebrandt, S. Sawyer   +17 more
semanticscholar   +1 more source

Amnioinfusions to Treat Early Onset Anhydramnios Caused by Bilateral Renal Agenesis : Potter’s Syndrome

Andalas Obstetrics and Gynecology Journal, 2022
Introduction: Anhydramnios is a very small amount of amniotic fluid where the MVP measurement is 2cm by ultrasound. The most common cause of anhydramnios that persists into the second trimester of pregnancy is bilateral renal agenesis.
Yusrawati Yusrawati, Rizka Fadhillah Yusra   +1 more
doaj   +1 more source

Renal agenesis associated with contralateral ectopic ureter and hydroureteronephrosis

Radiology Case Reports, 2021
Congenital anomalies of the kidney and the urinary tract such as renal agenesis and ectopic ureter have complex development. These anomalies have variable presentations and associations.
Georges El Hasbani, MD, Richard Assaker, MD, Yasir J. Ahmad, MD, Kalind Parashar, MD, Ginu A. Thomas, MD, Kyle Maurer, MD, Darshan Gandhi, MD, Thomas Olsavsky, MD, Jose Vargas, MD   +8 more
doaj   +1 more source

Renal growth slope in children with congenital and acquired solitary functioning kidneys [PDF]

Ultrasonography, 2021
Purpose This study aimed to analyze the renal growth slope in children with congenital and acquired solitary functioning kidneys. Methods This retrospective study included all renal ultrasonography examinations performed in children in the agenesis ...
Seung Myeon Choi, Hyun Joo Shin, Haesung Yoon, Myeongjee Lee, Yong Seung Lee, Sang Won Han, Mi-Jung Lee   +6 more
doaj   +1 more source

Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract [PDF]

, 2019
Background: Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been described.
Aguayo Calcena, Aníbal, Ariceta, Gema, Castaño González, Luis Antonio, García Castaño, Alejandro, Madariaga Domínguez, Leire, Martínez Salazar, Rosa   +5 more
core   +3 more sources

Cystic dysplasia of the rete testis associated with ipsilateral renal agenesis: A case report

Radiology Case Reports, 2022
Cystic dysplasia of the rete testis is a rare benign abnormality seen in the pediatric population. Diagnosed by scrotal ultrasonography, this lesion is often associated with congenital renal tract anomalies, most commonly ipsilateral renal agenesis or ...
Roy Waknin, MD, Jennifer Neville Kucera, MD, MS   +1 more
doaj   +1 more source