Results 51 to 60 of about 32,335 (282)
Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer +4 more
wiley +1 more source
Frontiers in Endocrinology, 2018 Nonsyndromic cryptorchidism is a common multifactorial, condition with long-term risks of subfertility and testicular cancer. Revealing the causes of cryptorchidism will likely improve prediction and prevention of adverse outcomes.
Julia S. Barthold, Richard Ivell
doaj +1 more source
Familial bilateral cryptorchidism is caused by recessive variants in RXFP2
Journal of Medical Genetics, 2019 Background Cryptorchidism or failure of testicular descent is the most common genitourinary birth defect in males. While both the insulin-like peptide 3 (INSL3) and its receptor, relaxin family peptide receptor 2 (RXFP2), have been demonstrated to ...
K. Ayers +7 more
semanticscholar +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa +4 more
wiley +1 more source
Journal of Animal Reproduction and BiotechnologyBackground: Cryptorchidism is the most common congenital abnormality affecting male reproductive development in dogs. Castration is generally recommended for affected individuals, and many cases are identified incidentally during elective procedures.
Minsu Baek +4 more
doaj +1 more source
The Nature of Disorders in Reproductive System in Unilateral Cryptorchidism [PDF]
Саратовский научно-медицинский журнал, 2009 The objective of the research: assessment of the condition of the reproductive system in patients with unilateral cryptorchidism. Children and teenage boys with unilateral cryptorchidism before surgical treatment, young adult men with surgically treated ...
E.S. Pimenova
doaj
Frontiers in Endocrinology, 2023 IntroductionThe fertility of cryptorchidism patients who didn’t perform corrective surgery will decrease with age. Herein, we elucidate the histological alterations and underlying molecular mechanism in patients with an increase in the disease duration ...
Weihao Sun +8 more
doaj +1 more source
Canadian Urological Association journal = Journal de l'Association des urologues du Canada, 2017 Cryptorchidism is one of the most common congenital anomalies in males, characterized by inability to palpate the testicle in the expected normal anatomical position (i.e., within its respective hemi-scrotum).
L. Braga, A. Lorenzo, R. Romao
semanticscholar +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr +7 more
wiley +1 more source
Cryptorchidism as a result of burn injury
, 1999 Thermal injury of the genitalia usually occurs as part of larger body surface burns. The most common sequelae of burns of the penoscrotal region are contractures of penile shaft, but we did not encounter any reported cases in English Literature with ...
Sarıoğlu, Akile +3 more
core +1 more source