Results 31 to 40 of about 26,178 (244)

Mind the gap: Can we explain declining male reproductive health with known antiandrogens? [PDF]

, 2014
This article has been made available through the Brunel Open Access Publishing Fund.Several countries have experienced rises in cryptorchidisms, hypospadias and testicular germ cell cancer. The reasons for these trends are largely unknown, but Skakkebaek
Andreas Kortenkamp, Berkowitz, Birkh  j, Carbone, Carmichael, Chia, Christiansen, Christiansen, Conacher, Covaci, Darbre, Ermler, Ermler, Fromme, Galassi, Hardell, Hardell, Hardell, Janjua, Jensen, Karrman, Karrman, Kjaerstad, Kojima, Kristensen, L  pez-Cervantes, Martin Scholze, Midasch, Neal, Nelson, Orton, Orton, Park, Pierik, Pierik, Rappaport, Schiavone, Schlumpf, Scholze, Sch  nfelder, Sibylle Ermler, Stoker, Suzuki, Swan, Swan, Vandenberg, Vinggaard, Wilson, Wine, You   +49 more
core   +1 more source

Competitive androgen receptor antagonism as a factor determining the predictability of cumulative antiandrogenic effects of widely used pesticides [PDF]

, 2012
Copyright @ 2012 National Institute of Environmental Health Sciences.This article has been made available through the Brunel Open Access Publishing Fund.Background: Many pesticides in current use have recently been revealed as in vitro androgen receptor (
Andreas Kortenkamp, Erika Rosivatz, Frances Orton, Kenakin TP, Martin Scholze   +4 more
core   +1 more source

Proximal Hypospadias [PDF]

The Scientific World JOURNAL, 2011
Hypospadias results from abnormal development of the penis that leaves the urethral meatus proximal to its normal glanular position. Meatal position may be located anywhere along the penile shaft, but more severe forms of hypospadias may have a urethral meatus located at the scrotum or perineum.
Kate H. Kraft, Aseem R. Shukla, Douglas A. Canning   +2 more
openaire   +3 more sources

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Male refractory hypospadias with sexual reversal: a case report

Journal of Medical Case Reports, 2023
Background Hypospadias is one of the most prevalent urogenital malformations in clinic. However, some hypospadias may have a more complex disorder of sex development. Usually, hypospadias in these patients is severe.
Jianfeng Zhao, Gang Chen, Jun Chen, Le Qian   +3 more
doaj   +1 more source

Fire in the Operating Room During Hypospadias Repair [PDF]

, 2017
Fire in the operating room (OR) is a very distressful and shocking occurrence with potential dramatic consequences. Despite safety rules and rigorous recommendations, such unintentional events do occur every so often.
Boscarelli, Alessandro, Ceccanti, Silvia, Cervellone, Alice, Cozzi, Denis A., Frediani, Simone, Pesce, Maria Vittoria   +5 more
core   +2 more sources

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

PHENOTYPE-GENOTYPE AND PEDIGREE ANALYSIS OF ISOLATED HYPOSPADIAS PATIENTS

Jurnal Urologi Indonesia, 2018
Objective: Hypospadias is a malformation in urethra which has many range of severity. A patient with Isolated hypospadias (IH), a mild disorder of sex development (DSD) has a hypospadias phenotype only. Hypospadias is considered as multifactorial disease
Nura Eky Vikawati, Ardy Santosa, Achmad Zulfa Juniarto, Sultana MH Faradz   +3 more
doaj   +1 more source