Results 121 to 130 of about 27,861 (277)

Structural analysis of testicular appendices in patients with cryptorchidism

open access: yesInternational Brazilian Journal of Urology, 2013
Objectives Report the incidence and structure of testicular appendices (TAs) in patients with cryptorchidism, comparing their incidence with epididymal anomalies (EA) and patency of the vaginal process (PVP) and analyzes the structure of TAs.
Guilherme D. Tostes   +5 more
doaj  

Sotos Syndrome With NSD1 Mutations in a Chinese Cohort: Identification of Two Novel Mutations and Literature Review

open access: yesInternational Journal of Developmental Neuroscience, Volume 85, Issue 5, August 2025.
ABSTRACT Sotos syndrome is an autosomal dominant disorder resulting from pathogenic variants of the NSD1 gene. In this study, we present five Chinese paediatric cases, including two previously unreported NSD1 variants: a nonsense mutation (c.1486A > T p. Lys496*) and a missense mutation (c.6086C > T) (p. Thr2029Ile) respectively.
Jianhui Zhao   +5 more
wiley   +1 more source

Recovery rates of infants with cryptorchidism before 15 months of age

open access: yesJorjani Biomedicine Journal, 2014
Background and objectives: Cryptorchidism or undescended testicle, with a prevalence of 33 percent in preterm and 3-5 percent in term infants, is the most common congenital abnormality in newborn boys.
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doaj  

Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT)

open access: yesMolecular Genetics &Genomic Medicine, Volume 13, Issue 8, August 2025.
DAIPT is a rare genetic disease caused by PIEZO2 gene mutations. We identified two novel variants of the gene, a nonsense and an intronic substitution, in a child with suspected DAIPT. Functional studies confirmed the effect of the nonsense variant and demonstrated the pathogenicity of the intronic one by providing a conclusive diagnosis of DAIPT. This
Michela Bellardita   +19 more
wiley   +1 more source

Glucose Metabolism by the Cryptorchid Rat Testis1 [PDF]

open access: bronze, 1969
Michael J. Free   +2 more
openalex   +1 more source

Prevalence and Characteristics of Prostatic Utricles: A Retrospective MRI Study in Middle‐Aged to Elderly Men

open access: yesThe Prostate, Volume 85, Issue 11, Page 1000-1004, August 2025.
ABSTRACT Background Congenital urological malformations encompass a wide range of anomalies affecting the urinary tract and reproductive organs. MRI has emerged as a diagnostic tool in identifying these conditions. Prostatic utricle is an enlarged diverticulum in the posterior urethra, which results from incomplete degradation of the Müllerian ducts or
Tomer Bashi   +6 more
wiley   +1 more source

Determination of Androgen Bioactivity by an In Vitro Assay During Pubertal Transition in Healthy Boys

open access: yesClinical Endocrinology, Volume 103, Issue 2, Page 185-192, August 2025.
ABSTRACT Objective To describe the bioactivity of circulating androgens during pubertal transition as determined by an in vitro bioassay assessing androgen receptor (AR) activation, and to compare these findings with circulating concentrations of total testosterone (total T) measured by LC‐MS/MS.
Andrés Felipe Ø. Fritzbøger   +10 more
wiley   +1 more source

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