Results 51 to 60 of about 19,756 (220)

Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients

Orphanet Journal of Rare Diseases, 2022
Background Hypospadias is a congenital anomaly of the male urogenital system. Genetics factors play an important role in its pathogenesis. To search for potential causal genes/variants for hypospadias, we performed exome sequencing in a pedigree with ...
Defu Lin, Huakang Du, Sen Zhao, Bowen Liu, Hongcheng Song, Guannan Wang, Weiping Zhang, Haiyan Liang, Pei Liu, Chao Liu, Wenwen Han, Zhenwu Li, Yang Yang, Shuofan Chen, Lina Zhao, Xiaoxin Li, Zhihong Wu, DISCO (Deciphering Disorders Involving Scoliosis & COmorbidities) study group, Ning Sun, Nan Wu   +19 more
doaj   +1 more source

Fetal exposure to a mixture of endocrine‐disrupting chemicals and biomarkers of male fecundity: A population‐based cohort study

Andrology, EarlyView.
Abstract Background Fetal exposure to endocrine‐disrupting chemicals (EDCs) has been associated with reduced male fecundity, but with few studies considering chemical mixtures. Objectives We assessed the association between fetal exposure to a mixture of EDCs and biomarkers of male fecundity in young adulthood.
Sidsel Dan Hull, Karin Sørig Hougaard, Gunnar Toft, Kajsa Kirstine Ugelvig Petersen, Esben Meulengracht Flachs, Christian Lindh, Cecilia Høst Ramlau‐Hansen, Lauren A. Wise, Allen Wilcox, Zeyan Liew, Jens Peter Bonde, Sandra Søgaard Tøttenborg   +11 more
wiley   +1 more source

Risk Factors for hypospadias in Northwest Russia: A Murmansk County Birth Registry Study.

PLoS ONE, 2019
BackgroundHypospadias is the most common congenital anomaly of the penis, but its causes are mainly unknown. Of the risk factors identified, the most plausible are hormonal and genetic.
Anton A Kovalenko, Tormod Brenn, Jon Øyvind Odland, Evert Nieboer, Alexandra Krettek, Erik Eik Anda   +5 more
doaj   +1 more source

Semen quality in patients with testicular cancer is associated with age and with greatly elevated levels of beta human chorionic gonadotropin

Andrology, EarlyView.
Abstract Background Poor semen quality is a well‐known feature in patients with testicular germ cell tumours (GCTs) at the time of diagnosis but the underlying biological reasons are incompletely understood. Objectives This study aimed to identify GCT‐specific clinical factors that are involved with poor semen quality in GCT patients.
Klaus‐Peter Dieckmann, Johanna Hochmuth‐Tisch, Andrea Salzbrunn, Cord Matthies, Kathrein von Kopylow, Marta Godlewska, Christian Wülfing, Uwe Pichlmeier, Armin Soave, Christian Guido Ruf   +9 more
wiley   +1 more source

CYSTOSTOMY DIVERSION REDUCED COMPLICATIONS FOLLOWING HYPOSPADIAS REPAIR: A SYSTEMATIC REVIEW AND META-ANALYSIS

Jurnal Urologi Indonesia
Objective: This study aims to investigate the associations between the use of cystostomy diversion and the incidence of complications following hypospadias repair.
Irfan Wahyudi, Putu Angga Risky Raharja, Gerhard Reinaldi Situmorang, Arry Rodjani   +3 more
doaj   +1 more source

Acute postoperative complications of hypospadias repair

Indian Journal of Urology, 2008
Purpose: Complications in hypospadias surgery are higher than other reconstructive procedures. The incidence of complications can be reduced if proper preventive measures are taken. The review aims to highlight incidences, causes, and preventive measures
Amilal Bhat, Arup Kumar Mandal
doaj   +1 more source

CDK13‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

Clinical Genetics, EarlyView.
This report described 27 novel subject with CDK13‐related disorders. Collecting the clinical and radiological data, we better define the phenotypic spectrum of this condition and we suggest a comprehensive clinical management. ABSTRACT In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in ...
Gianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, Manuela Napoli, Rosangela Artuso, Annarita Giliberti, Sara Bargiacchi, Giorgia Mancano, Giovanna Traficante, Mafalda Mucciolo, Francesca Clementina Radio, Viviana Cordeddu, Cecilia Mancini, Irene Bottillo, Federica Anna Pirro, Maria Teresa Bonati, Cord‐Christian Becker, Diana Carli, Alessandro Mussa, Maria Isis Atallah Gonzalez, Inge Lore Ruiz‐Arana, Camille Kumps, Isabelle Maystadt, Stephanie Moortgat, Alp Peker, Maria Piccione, Paola Grammatico, Nino Rostomashvili, Jonathan Lévy, Marcello Scala, Valeria Capra, Annalaura Torella, Clare van Eyk, Bertrand Isidor, Benjamin Cogne, Siddharth Srivastava, Aisling Quinlan, Alessandro Vaisfeld, Laura Licchetta, Daniele Frattini, Claudio Graziano, Giulia Severi, Isabelle Bacchi, Luca Soliani, Elliott H. Sherr, Emanuela Argilli, Himanshu Goel, Chiara De Luca, Silvia Leonardi, Francesco Brancati, Flavio Faletra, Catia Mio, Silvia Braibanti, Giancarlo Gargano, Carlo Fusco, Antonio Novelli, Marco Tartaglia, Livia Garavelli   +57 more
wiley   +1 more source

A Potential Pathogenic SRD5A2 Mutation and rs632148, rs523349 and rs522638 Polymorphisms in Increasing the Risk of Syndromic Hypospadias in Indonesian Population

Indonesian Biomedical Journal
BACKGROUND: Hypospadias, a congenital birth defect in male, is the opening of the urethra located on the ventral side of the penis. Several mutations in SRD5A2 encoding steroid 5 alpha-reductase type 2 protein have been identified in hypospadias and ...
Rizki Diposarosa, Yunisa Pamela, Herry Herman, Yunia Sribudiani   +3 more
doaj   +1 more source

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients

Clinical Genetics, EarlyView.
This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut, Umut Altunoglu, Şahin Avcı, Tuğba Kalaycı, Ayça Dilruba Aslanger, Volkan Karaman, Zehra Oya Uyguner, Hülya Kayserili   +7 more
wiley   +1 more source

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

Molecular Genetics & Genomic Medicine, 2019
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.
Wanyu Zhang, Jinxiu Shi, Chenhui Zhang, Xincheng Jiang, Junqi Wang, Wei Wang, Defen Wang, Jihong Ni, Lifen Chen, Wenli Lu, Yuan Xiao, Weijing Ye, Zhiya Dong   +12 more
doaj   +1 more source