[HTML][HTML] Whole-exome sequencing study of hypospadias
Hypospadias results from the impaired urethral development, which is influenced by
androgens, but its genetic etiology is still unknown. Through whole exome sequencing …
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 …
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 …
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 …
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 …
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 …
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
Background Hypospadias risk–associated gene variants have been reported in populations
of European descent using genome-wide association studies (GWASs). There is little known …
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 …
worldwide although the spectrum of associated genes does vary across different ethnicities …
Single-nucleotide and copy-number variance related to severity of hypospadias
Background The genetic association of hypospadias-risk studies has been conducted in
Caucasians, Chinese-Han populations and few in Indian populations. However, no …
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 …
the association of hypospadias with endocrine‐disrupting exposures, and the potential …