Results 11 to 20 of about 69 (64)
Genomic technologies and the diagnosis of 46, XY differences of sex development
Andrology, EarlyView.Abstract Differences/disorders of sex development can be caused by disruptions to the molecular and cellular mechanisms that control development and sex determination of the reproductive organs with 1:100 live births affected. Multiple genes are associated with 46, XY differences/disorders of sex development that can cause varying clinical phenotypes ...
Firman Idris +2 more
wiley +1 more source
Andrology, EarlyView.Abstract Background G protein‐coupled receptors are a large and functionally diverse family of membrane receptors involved in a number of biological processes. Like other proteins, G protein‐coupled receptors need to be properly folded in order to traffic to the plasma membrane and interact with agonist.
Alfredo Ulloa‐Aguirre +5 more
wiley +1 more source
Normozoospermic men in infertile couples: Potential benefit of early medical diagnostic procedures
Andrology, EarlyView.Abstract Introduction Infertility, defined as the inability to achieve pregnancy despite regular, unprotected sexual intercourse for 1 year, affects approximately 15% of couples. Male factors contribute to 50% of these cases. The necessity of andrological evaluations for male partners of infertile couples with normozoospermia is currently under ...
Simone Bier +3 more
wiley +1 more source
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 +11 more
wiley +1 more source
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 +9 more
wiley +1 more source
Andrology, EarlyView.Abstract Background WFS1 spectrum disorder, also known as Wolfram syndrome (WS) is an ultra‐rare (<1:500,000; ORPHA: 3463) monogenic (OMIM #222300) progressive neuroendocrine and neurodegenerative disorder, characterised by early‐onset insulin‐dependent diabetes, optic atrophy, central diabetes insipidus and sensi‐neuronal deafness.
Julia Rohayem +6 more
wiley +1 more source
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 +57 more
wiley +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 +7 more
wiley +1 more source
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 +11 more
wiley +1 more source