Results 81 to 90 of about 33,046 (258)

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

Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism [PDF]

, 2016
Copy number variation (CNV) is a potential contributing factor to many genetic diseases. Here we investigated the potential association of CNV with nonsyndromic cryptorchidism, the most common male congenital genitourinary defect, in a Caucasian ...
Abrams, Debra J., Banihani, Ahmad H., Barthold, Julia Spencer, Chiavacci, Rosetta M., Devoto, Marcella, Figueroa, T. Ernesto, Gonzalez, Ricardo, Hagerty, Jennifer A., Hakonarson, Hakon, Harden, Kisha R., Kim, Cecilia E., Kolon, Thomas F., Li, Jin, Noh, Paul H., Olivant Fisher, Alicia, Sol Church, Katia, Stabley, Deborah, Wang, Yanping   +17 more
core   +1 more source

Late chordee after proximal tubularized incised plate repairs: An underestimated and underreported problem

UroPrecision, EarlyView.
V. V. S. Chandrasekharam
wiley   +1 more source

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases

Clinical Genetics, EarlyView.
We report a 2‐year‐old male with clinical features of Takenouchi‐Kosaki syndrome, bilateral colobomas, and a de novo, likely pathogenic missense variant in CDC42. Supportive evidence includes a Cdc42 conditional knock‐out mouse model with colobomas.
Diana Brightman, Nawaal Shinwari, Aleksey Porollo, Eniolami O. Dosunmu, Ehsan Ullah, Bin Guan, Robert B. Hufnagel, Brian P. Brooks, Delphine Blain, Sabine Fuhrmann, Brittany Simpson, Anne M. Slavotinek   +11 more
wiley   +1 more source

Langerhans cells in hypospadias: an analysis of Langerin (CD207) and HLA-DR on epidermal sheets and full thickness skin sections

BMC Urology, 2019
Background Hypospadias are among the most common genital malformations. Langerhans Cells (LCs) play a pivotal role in HIV and HPV infection. The migration of LC precursors to skin coincides with the embryonic period of hypospadias development and genetic
Bernhard Haid, Daniela Reider, Felix Nägele, Anne-Françoise Spinoit, Elisabeth Pechriggl, Nikolaus Romani, Helga Fritsch, Josef Oswald   +7 more
doaj   +1 more source

Publication Bias in Randomized Controlled Trials of Hypospadias Surgical Repair: A Systematic Review

International Journal of Urology, EarlyView.
ABSTRACT Objectives Hypospadias is a common congenital condition in males that has been subject to extensive research. However, publication bias can distort the scientific literature and impact clinical decision‐making. This review evaluates publication bias in hypospadias research and emphasizes the need for balanced reporting to improve clinical ...
Ebram Nainggolan, Irfan Wahyudi, Arry Rodjani, Gerhard Reinaldi Situmorang, Muhammad E. H. Chowdhury, Putu Angga Risky Raharja, Tariq Abbas   +6 more
wiley   +1 more source

Hypospadias [PDF]

Seminars in Pediatric Surgery, 2021
openaire   +4 more sources

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

Complex epithelial remodeling underlie the fusion event in early fetal development of the human penile urethra. [PDF]

, 2016
We recently described a two-step process of urethral plate canalization and urethral fold fusion to form the human penile urethra. Canalization ("opening zipper") opens the solid urethral plate into a groove, and fusion ("closing zipper") closes the ...
Baskin, Laurence, Cao, Mei, Cunha, Gerald, Overland, Maya, Shen, Joel, Sinclair, Adriane, Yue, Xuan   +6 more
core  

Appraisal of Clinical and Anthropometric Variables as Risk Factors for Urethroplasty Complication in Primary Hypospadias

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim We assessed multiple clinical and anthropometric risk factors for urethroplasty complications requiring ancillary procedures following primary hypospadias repair. Methods It is a prospective cohort study of boys undergoing primary hypospadias repair comparing the group of patients with urethroplasty complication (UC) who required ancillary
Emmanuelle Seguier‐Lipszyc, Ilia Beberashvili, Andrew Shumaker, Kobi Stav, Amos Neheman   +4 more
wiley   +1 more source