Results 81 to 90 of about 22,224 (216)

Genome-wide association study in Chinese cohort identifies one novel hypospadias risk associated locus at 12q13.13

BMC Medical Genomics, 2019
Background Hypospadias risk–associated gene variants have been reported in populations of European descent using genome-wide association studies (GWASs).
Zhongzhong Chen, Xiaoling Lin, Yunping Lei, Haitao Chen, Richard H. Finnell, Yaping Wang, Jianfeng Xu, Daru Lu, Hua Xie, Fang Chen   +9 more
doaj   +1 more source

Adolescent and Young Adult Urogenital Outcome following Childhood Hypospadias Repair: Perfection Revisited

Journal of Urology, 2021
L. Tack, A. Springer, S. Riedl, U. Tonnhofer, M. Hiess, J. Weninger, A. Mahmoud, E. Van Laecke, P. Hoebeke, M. Cools, A. Spinoit   +10 more
semanticscholar   +1 more source

Associations between hypospadias, cryptorchidism and anogenital distance: Systematic review and meta‐analysis

Andrologia, 2018
Hypospadias and cryptorchidism are potential manifestations of testicular dysgenesis syndrome (TDS) at birth. Anogenital distance (AGD) has been presumed as an indicator related to endocrine disruptors proposed as one of the pathogenetic mechanisms ...
Xiao-Guo Hua, Rui Hu, Cheng-Yang Hu, Feng-li Li, Wen Jiang, Xiu-jun Zhang   +5 more
semanticscholar   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

Unusual complication of prolonged indwelling urinary catheter - iatrogenic hypospadias

Journal of Family Medicine and Primary Care, 2016
Long-time urethral catheterization may be responsible for various complications such as urethral stricture, urethral fracture, urinary tract infections, and hypospadias.
Gunjan Garg, Vishal Baghele, Naveen Chawla, Atul Gogia, Atul Kakar   +4 more
doaj   +1 more source

DAPK3 is Essential for DBP‐Induced Autophagy of Mouse Leydig Cells

Advanced Science, Volume 12, Issue 17, May 8, 2025.
This study has confirmed that death‐associated protein kinase 3 (DAPK3) is essential for dibutyl phthalate (DBP)‐induced autophagy of mouse Leydig cells, and is regulated by both transcription factor specific protein 2 (Sp2) and parkin RBR E3 ubiquitin‐protein ligase (PRKN), and melatonin can alleviate DBP‐induced autophagy of the cells.
Si Yang, Ying Yang, Linlin Xu, Chaoju Hao, Jiaxiang Chen   +4 more
wiley   +1 more source

Comparative Study of Urethral Plate and Glans Characteristics in Experimentally Created Hypospadias and Clinical Cases Undergoing Snodgrass Repair

Journal of Indian Association of Pediatric Surgeons
Aim: The aim of this study was to study the urethral plate and glans configuration in experimentally created hypospadias in male human cadavers and its comparison with hypospadias patients planned for tubularized incised plate (TIP) urethroplasty ...
Manish Rajput, Archika Gupta, Gurmeet Singh, Rahul Kumar Rai, Shiv Narain Kureel, Punita Manik, Navneet Chauhan, Jiledar Rawat   +7 more
doaj   +1 more source

The Megameatus, Intact Prepuce Variant of Hypospadias: Use of the Inframeatal Vascularized Flap for Surgical Correction

Frontiers in Pediatrics, 2018
Introduction The megameatus intact prepuce (MIP) variant of hypospadias is a rare variant of hypospadias that is diagnosed either early at the time of circumcision or later as the foreskin is retracted.
M. Cendron
semanticscholar   +1 more source

Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
ABSTRACT Diamond Blackfan anemia (DBA) is an autosomal dominant disorder with a heterogeneous clinical presentation which may include macrocytic anemia typically presenting in the first year of life, growth retardation, and congenital malformations in 30%–50% of patients.
Lisa M. Karger, Bryn D. Webb, Lisa Edelmann, Jun Liao, Lakshmi Mehta   +4 more
wiley   +1 more source

Postoperative complications of hypospadias repair in patients receiving caudal block vs. non-caudal anesthesia: A meta-analysis.

Canadian Urological Association journal = Journal de l'Association des urologues du Canada, 2018
INTRODUCTION We performed a meta-analysis of the current literature to assess the association of caudal block and postoperative complication rates following hypospadias repair. METHODS A Systematic literature search was conducted on October 2017.
Patrick P. Tanseco, Harkanwal Randhawa, M. Chua, U. Blankstein, J. Kim, M. McGrath, A. Lorenzo, L. Braga   +7 more
semanticscholar   +1 more source