[HTML][HTML] Whole-exome sequencing study of hypospadias

Z Chen, Y Lei, RH Finnell, Y Ding, Z Su, Y Wang, H Xie… - Iscience, 2023 - cell.com
Hypospadias results from the impaired urethral development, which is influenced by
androgens, but its genetic etiology is still unknown. Through whole exome sequencing …

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

W Zhang, J Shi, C Zhang, X Jiang… - Molecular genetics & …, 2019 - Wiley Online Library
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 …

How far should we explore hypospadias? Next-generation sequencing applied to a large cohort of hypospadiac patients

V Ea, A Bergougnoux, P Philibert… - European urology, 2021 - Elsevier
Background Next-generation sequencing (NGS) is generally used for patients with severe
disorders of sex development (DSD). However, NGS has not been applied extensively for …

[HTML][HTML] Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias

C Söderhäll, IB Körberg, HTT Thai, J Cao… - European Journal of …, 2015 - nature.com
Hypospadias is a common male genital malformation and is regarded as a complex disease
affected by multiple genetic as well as environmental factors. In a previous genome-wide …

Genome-wide association analyses identify variants in developmental genes associated with hypospadias

F Geller, B Feenstra, L Carstensen, TH Pers… - Nature …, 2014 - nature.com
Hypospadias is a common congenital condition in boys in which the urethra opens on the
underside of the penis. We performed a genome-wide association study on 1,006 surgery …

Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients

M Kon, E Suzuki, VC Dung, Y Hasegawa… - Human …, 2015 - academic.oup.com
STUDY QUESTION What percentage of cases with non-syndromic hypospadias can be
ascribed to mutations in known causative/candidate/susceptibility genes or submicroscopic …

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

Z Chen, X Lin, Y Lei, H Chen, RH Finnell, Y Wang… - BMC Medical …, 2019 - Springer
Background Hypospadias risk–associated gene variants have been reported in populations
of European descent using genome-wide association studies (GWASs). There is little known …

[HTML][HTML] Characterization with gene mutations in han Chinese patients with hypospadias and function analysis of a novel AR genevariant

L Chen, J Wang, W Lu, Y Xiao, J Ni, W Wang… - Frontiers in …, 2021 - frontiersin.org
It is estimated that around 10–20% of hypospadias are caused by genetic abnormalities
worldwide although the spectrum of associated genes does vary across different ethnicities …

Single-nucleotide and copy-number variance related to severity of hypospadias

N Singh, DK Gupta, S Sharma, DK Sahu… - Pediatric Surgery …, 2018 - Springer
Background The genetic association of hypospadias-risk studies has been conducted in
Caucasians, Chinese-Han populations and few in Indian populations. However, no …

Environmental and genetic contributors to hypospadias: a review of the epidemiologic evidence

SL Carmichael, GM Shaw… - Birth Defects Research …, 2012 - Wiley Online Library
This review evaluates current knowledge related to trends in the prevalence of hypospadias,
the association of hypospadias with endocrine‐disrupting exposures, and the potential …