Results 71 to 80 of about 26,178 (244)

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants

Clinical Genetics, EarlyView.
PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen, Elke de Boer, Gholson J. Lyon, Bert B. A. de Vries, Charlotte W. Ockeloen, Alexander J. M. Dingemans   +5 more
wiley   +1 more source

Craniofacial anomalies associated with hypospadias. Description of a hospital based population in South America

International Brazilian Journal of Urology
Introduction: Hypospadias is a congenital abnormality of the penis, in which there is incomplete development of the distal urethra. There are numerous reports showing an increase of prevalence of hypospadias.
Nicolas Fernandez, Rebeca Escobar, Ignacio Zarante   +2 more
doaj   +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

Unusual presentation of female bladder outlet obstruction- female hypospadias with urethral stenosis

Urology Case Reports, 2020
Hypospadias is a rare birth deformity characterised by shortening of urethra with dorsal ectopia of the urethral meatus. The occurrence of hypospadias in female patients is extremely rare.
Gaurav Bavadiya, Chetan shah, Kalyan K. Sarkar, Prithviraj Ghoshal, Himadri Pathak, Kaushik Sarkar   +5 more
doaj   +1 more source

ANALISIS PREVALENSI DAN FAKTOR RISIKO PASIEN DENGAN ISOLATED HYPOSPADIAS DI LABORATORIUM CEBIOR [PDF]

, 2015
Background: Hypospadias is a common congenital anomaly characterized by the location of orificium urethra external between perineum and its normal position at the tip of the glans. It occurs in 17 per 10.000 male births.
Faradz , Sultana MH, Juniarto, Zulfa, Mufida, Khilayatul   +2 more
core  

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith, Victor Faundes, Xiaonan Zhao, Bixia Zheng, Gang Zhang, Xiao Mao, Emily Danko, Jason Laufman, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Brynjar Örn Jensson, Telma S. Sulem, Patrick Sulem, Jill A. Rosenfeld, Daryl A. Scott   +15 more
wiley   +1 more source

Hypospadias [PDF]

Seminars in Pediatric Surgery, 2021
openaire   +4 more sources

Boys born with hypospadias and fetal growth restriction exhibit shorter anogenital distances: a retrospective cross-sectional study

Frontiers in Pediatrics
BackgroundHypospadias is a common congenital urological malformation in males, potentially associated with inadequate prenatal androgen exposure. Anogenital distances (AGDs) are biomarkers of prenatal androgen action, while fetal growth restriction (FGR)
Wenfeng Pan, Min Wu, Yan Chen, Hua Xie, Yichen Huang, Fang Chen   +5 more
doaj   +1 more source

Educational Attainment of Children With Major Congenital Anomalies During Primary School in England: A Population Cohort Study

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Major congenital anomalies (CA) affect 2.3% of livebirths and are associated with lower educational attainment. Understanding attainment trajectories throughout primary school would inform parents, schools and organisations and help plan support.
Joachim Tan, Ayana Cant, Kate Lewis, Vincent Nguyen, Laura Gimeno, Ania Zylbersztejn, Pia Hardelid, Joan Morris, Bianca De Stavola, Katie Harron, Ruth Gilbert, on behalf of the HOPE Study Team   +11 more
wiley   +1 more source

Exposure to polychlorinated biphenyls and hexachlorobenzene, semen quality and testicular cancer risk [PDF]

, 2015
PURPOSE: We carried out a case-control study to investigate the possible role of occupational and environmental exposure to endocrine disruptors in the onset of testicular cancer (TC). METHODS: We evaluated 125 TC patients and 103 controls.
CATTARUZZA, Maria Sofia, F. Giannandrea, GANDINI, Loredana, LENZI, Andrea, LOMBARDO, Francesco, M. Gallo, PAOLI, Donatella, R. Turci   +7 more
core   +1 more source