Results 101 to 110 of about 25,988 (233)

Exposure to polychlorinated compounds and cryptorchidism; A nested case-control study.

open access: yesPLoS ONE, 2020
BackgroundMaldescended testes or cryptorchidism is a genital birth defect that affects 2-9% of all male new-borns. Over the last 40 years there have been reports of increased prevalence in countries like the US, the UK and the Scandinavian countries ...
Jonatan Axelsson   +6 more
doaj   +1 more source

Serum Phthalate and Triclosan Levels Have Opposing Associations With Risk Factors for Gestational Diabetes Mellitus. [PDF]

open access: yes, 2018
Certain phthalates and bisphenol A (BPA) have been associated with insulin resistance and type 2 diabetes in non-pregnant adults, but studies of gestational diabetes mellitus (GDM) have reported conflicting results for phthalates and no associations with
Ajay Thankamony   +9 more
core   +3 more sources

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

open access: yesClinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw   +30 more
wiley   +1 more source

Diagnostic yield of OCT3/4 reflex testing in testicular biopsy

open access: yesHistopathology, EarlyView.
GCNIS detection frequency was 48/3353 (1.4%) testicular biopsies from 42/1870 (2.2%) men who underwent testicular biopsy with or without testicular sperm extraction (TESE). OCT3/4 was particularly helpful for detecting interstitial seminoma, GCNIS coexisting with mature spermatogenesis, and focal GCNIS.
Roselyne Choiniere   +2 more
wiley   +1 more source

Optimising the workflow for infant ABO blood typing: The role of automated analyser and a manual reflex protocol

open access: yesTransfusion Medicine, EarlyView.
Abstract Objectives We aimed to optimise the infant ABO typing workflow by evaluating the performance of the ORTHO VISION analyser (VISION; QuidelOrtho, San Diego, CA, USA) and establishing a targeted manual reflex protocol. Background The application of automated analysers in infants poses challenges due to weak antigen and antibody expression ...
Eunhui Ji   +4 more
wiley   +1 more source

The CAG repeat within the androgen receptor gene and its relationship to cryptorchidism

open access: yesInternational Brazilian Journal of Urology, 2006
PURPOSE: We examined the significance of the CAG repeat polymorphism in the pathogenesis of cryptorchidism. MATERIALS AND METHODS: Genomic deoxyribonucleic acid (DNA) was extracted from blood samples from 42 cryptorchid boys and from 31 non-cryptorchid ...
M. Silva-Ramos   +5 more
doaj   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1403-1410, June 2026.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang   +6 more
wiley   +1 more source

Orchidopexy Results in the Recovery of Sperm in the Ejaculate of a Non-obstructive Azoospermic Adult with Bilateral Cryptorchidism — A Case Report

open access: yesFertility & Reproduction, 2019
Cryptorchidism or undescended testis is one of the most common pediatric disorders of the male endocrine glands and the most typical congenital abnormality identified at birth.
Huy Quang Duong   +3 more
doaj   +1 more source

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1442-1451, June 2026.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma   +12 more
wiley   +1 more source

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