Results 101 to 110 of about 19,055 (233)

A Potential Pathogenic SRD5A2 Mutation and rs632148, rs523349 and rs522638 Polymorphisms in Increasing the Risk of Syndromic Hypospadias in Indonesian Population

Indonesian Biomedical Journal
BACKGROUND: Hypospadias, a congenital birth defect in male, is the opening of the urethra located on the ventral side of the penis. Several mutations in SRD5A2 encoding steroid 5 alpha-reductase type 2 protein have been identified in hypospadias and ...
Rizki Diposarosa, Yunisa Pamela, Herry Herman, Yunia Sribudiani   +3 more
doaj   +1 more source

Identification of gene variants in 130 Han Chinese patients with hypospadias by targeted next‐generation sequencing

Molecular Genetics & Genomic Medicine, 2019
Background Hypospadias is a common congenital malformation of male external genitalia, which mainly manifests as an abnormal urethral opening on the ventral side of the penis.
Wanyu Zhang, Jinxiu Shi, Chenhui Zhang, Xincheng Jiang, Junqi Wang, Wei Wang, Defen Wang, Jihong Ni, Lifen Chen, Wenli Lu, Yuan Xiao, Weijing Ye, Zhiya Dong   +12 more
doaj   +1 more source

Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow‐Up

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT This study investigated long‐term cognitive development and genotype–phenotype relationships in patients with Mucopolysaccharidosis Type II (MPS II). A nationwide prospective cohort study was conducted in the Netherlands with cognitive follow‐up since 2007.
J. (Julia) Holdorp, M. E. (Michelle) Kruijshaar, A. A. M. (Audrey) Vollebregt, A. B. (Andre) Rietman, M. R. K. (Marianne) Dijkstra, C. (Carina) Klees, M. (Margreet) Wagenmakers, A. H. P. (Annie) Nguyen, E. (Esmee) Oussoren, A. T. (Ans) van der Ploeg, J. M. P. (Hannerieke) van den Hout   +10 more
wiley   +1 more source

J Urol [PDF]

PurposeWe determined whether variants in genes associated with genital tubercle (the anlage for the penis) and early urethral development were associated with hypospadias in humans.Materials and MethodsWe examined 293 relatively common tagSNPs in BMP4 ...

core   +2 more sources

Effects of Perioperative Music Interventions on Emotional Outcomes in Children and Adolescents: A Systematic Review and Meta‐Analysis Integrating Developmental Psychology and Music Education Perspectives

Pediatric Anesthesia, Volume 36, Issue 9, Page 1052-1077, September 2026.
ABSTRACT Objective To evaluate the effects of perioperative music interventions on emotional outcomes (preoperative anxiety, postoperative fear, emergence delirium) and related physiological parameters in children and adolescents undergoing surgery, and to examine potential effect modifiers.
Yuchen Wen, Jinying Han, Jiayin Gao, Jiaqi Lou, Ziyi Xiang   +4 more
wiley   +1 more source

Outcome after Hypospadias Repair: Evaluation Using the Hypospadias Objective Penile Evaluation Score

, 2017
Introduction The Hypospadias Objective Penile Evaluation Score (HOPE-Score) is a concise and reproducible way to describe hypospadias severity. We classified boys undergoing primary hypospadias repair to determine the correlation between the
Andrea Koehn, Friedrich-Wilhelm Roehl, Sarah Krull, Hans-Juergen Hass, Hardy Krause, Klaus Mohnike, Anke Rissmann   +6 more
core   +1 more source

Revertant Mosaicism Obscures Long‐Awaited Molecular Confirmation of Diamond‐Blackfan Anemia

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2381-2383, October 2026.
Nicholas A. Borja, Mustafa Tekin
wiley   +1 more source

A Scoping Review of 5‐HT3 Antagonist Antiemetic Medication Safety in the Management of Nausea and Vomiting of Pregnancy

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 9, September 2026.
ABSTRACT Purpose The prescribing of 5‐hydroxytryptamine 3 receptor and type 3 serotonin receptor (5‐HT3) antagonists, particularly ondansetron, for nausea and vomiting in pregnancy (NVP) has increased globally. However, evidence on the safety of these medications in pregnancy remains unclear.
Shannon Morgan, Ebony Quintrell, Danielle J. Russell, Amina Rhaman, Aster Gebremedhin, Caitlin S. Wyrwoll, Erin Kelty   +6 more
wiley   +1 more source

Penile Curvature Incidence in Hypospadias: Can It Be Determined?

Advances in Urology, 2011
The aim was to retrospectively determine the real incidence of congenital penile curvature in various forms of hypospadias, in order to indicate intraoperative assessment and correction of curvature.
Borko Stojanovic, Marta Bizic, Marko Majstorovic, Vladimir Kojovic, Miroslav Djordjevic   +4 more
doaj   +1 more source

Canine perineal hypospadias [PDF]

, 2013
Canine hypospadias is a rare condition that can occur in male and female dogs. Affected animals may present signs of urinary incontinence, recurrent urinary tract infections, periurethral dermatitis or can remain asymptomatic. Periurethral hypospadias in
L.D. Guimarães, L.C. Santos, Santos, L.C., E. Bourguignon, Duarte, T.S., Bourguignon,E., Bourguignon, E., Andrade,E.C., Santos,L.C., T.S. Duarte, Duarte,T.S., Guimarães, L.D., Borges,A.P.B., Guimarães,L.D., Borges, A.P.B., A.P.B. Borges, Andrade, E.C., E.C. Andrade   +17 more
core   +1 more source