Results 61 to 70 of about 22,740 (218)
Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Abdominal and Pelvic Anomalies
Prenatal Diagnosis, EarlyView.ABSTRACT Objective(s) This study aims to document the abdominal and pelvic anomalies that can be demonstrated using post mortem Micro‐CT, independent of whether the anomaly contributed to the main diagnosis or cause of death. Methods We retrospectively analyzed 1200 whole body post‐mortem fetal Micro‐CT scans in an unselected, consecutive cohort ...
Ian C. Simcock +5 more
wiley +1 more source
Zinner Syndrome with Ectopic Ureter Emptying into Seminal Vesicle
Case Reports in Urology, 2021 A 66-year-old male patient in follow-up in the urology department for a non-muscle-invasive bladder cancer was detected by ultrasound to have absence of the left kidney and a cystic, multilobed image at the location of the seminal vesicle.
M. Hevia Palacios +4 more
doaj +1 more source
A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing [PDF]
, 2015 The Deciphering Developmental Disorders Study presents independent research commissioned by the Health Innovation Challenge Fund (HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome ...
Constantinou, Panayiotis +6 more
core +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao +13 more
wiley +1 more source
A Case of Mayer–Rokitansky–Küster–Hauser Syndrome with a Fused Pancake-shaped Pelvic Kidney
Advanced Biomedical Research, 2019 Mayer–Rokitansky–Küster–Hauser (MRKH) Syndrome is a female reproductive system disorder. It is characterized by a defect in the Müllerian ducts development, and it causes the absence of the uterus in variable degrees in upper vaginal hypoplasia.
Ali Reza Eftekhari Moghadam +5 more
doaj +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim +5 more
wiley +1 more source
UroPrecision, EarlyView.Abstract Background In Zinner syndrome (ZS), surgical intervention is recommended for pediatric patients with symptomatic disease. It is generally believed that cyst aspiration alone may lead to symptom recurrence. Although comprehensive surgical excision is often advocated to prevent recurrence, a combined approach of cyst aspiration and maximal cyst ...
Muhammed Arif Ibis +3 more
wiley +1 more source
Herlyn-Werner-Wunderlich syndrome presenting with infertility: Role of MRI in diagnosis
Indian Journal of Radiology and Imaging, 2013 Herlyn-Werner-Wunderlich syndrome (HWWS), characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis, is an uncommon combined Mullerian and mesonephric duct anomaly, and its presentation in adulthood is even rarer. We report
Zohra Ahmad +4 more
doaj +1 more source
Enhancement of HGF-induced tubulogenesis by endothelial cell-derived GDNF [PDF]
, 2019 学位記番号 ...
Nakasatomi, Masao +2 more
core
Renal function in children with congenital neurogenic bladder [PDF]
, 2011 AIMS: Preservation of renal function in children with congenital neurogenic bladder is an important goal of treatment for the disease. This study analyzed the evolution of renal function in patients with congenital neurogenic bladder.
OLANDOSKI, Karen Previdi +2 more
core +2 more sources