Results 41 to 50 of about 335,495 (219)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman +11 more
wiley +1 more source
Diphallia: a case report of a rare anomaly evaluated by magnetic resonance imaging
The Turkish Journal of Pediatrics, 2021 Background. Diphallus, also known as penile duplication, is a rare malformation, seen once in every 5 to 6 million births. Newborns showing this condition present higher mortality rates due to malformations and infections.
Márcio Luís Duarte +3 more
doaj +1 more source
Abnormal development of urogenital organs in Dlgh1-deficient mice [PDF]
Development, 2007 Dlgh1 (discs large homolog 1) is a mammalian homolog of the Drosophila tumor suppressor Discs large 1, and is a member of the membrane-associated guanylate kinase (MAGUK) scaffolding proteins that contain three PSD-95/Dlg/ZO-1 (PDZ) domains. Discs large 1 is involved in epithelial polarization and cell-cell adhesion complex formation during Drosophila ...
Akiko, Iizuka-Kogo +3 more
openaire +2 more sources
Human evolution and the obstetrical dilemma: The pelvic floor hypothesis
The Anatomical Record, EarlyView.Abstract Human childbirth is mechanically difficult because a large‐headed, broad‐shouldered fetus must pass through a comparatively narrow, twisted bony birth canal. Traditional explanations of this “obstetrical dilemma” emphasize the role of bipedal locomotion in inhibiting the evolution of a wider, more spacious pelvis.
Barbara Fischer, Ekaterina Stansfield
wiley +1 more source
The Anatomical Record, EarlyView.Abstract The organization and function of reptilian excurrent ducts remain poorly characterized, particularly in Neotropical snakes. We provide the first integrative morphological, histochemical, immunohistochemical, and ultrastructural analysis of the proximal post‐testicular ducts of Crotalus durissus across reproductive stages.
Flávia Cappuccio de Resende +9 more
wiley +1 more source
When meta‐analyses mislead: Promises and pitfalls in teratology counselling
British Journal of Clinical Pharmacology, EarlyView.Meta‐analysis has become a central tool for evidence synthesis in clinical teratology, offering the promise of increased statistical power, earlier signal detection and consolidated guidance for teratology counselling. When conducted rigorously and interpreted carefully, pooled analyses can provide clinicians with a structured basis for risk ...
Yusuf Cem Kaplan, Nusret Uysal
wiley +1 more source
Laser neoureterocystostomy to treat ectopic ureters
Equine Veterinary Journal, EarlyView.Abstract Background Ureteral ectopia is an uncommon but clinically important congenital abnormality in horses. If left untreated, it can lead to persistent dermatitis, urinary tract infections, and failure to thrive. Surgical correction is necessary, but traditional approaches have produced mixed results with high morbidity.
Caitlin Smith, Eric J. Parente
wiley +1 more source
A rare case of Silver-Russell syndrome associated with growth hormone deficiency and urogenital abnormalities. [PDF]
Indian J Endocrinol Metab, 2012 Introduction: Silver-Russell syndrome (SRS) is a very rare genetic disorder. This is usually characterized by asymmetry in the size of the two halves or other parts of the body.
Prasad NR +4 more
europepmc +2 more sources
Congenital prepubic sinus: Rare diagnosis with unclear etiology
Journal of Pediatric Surgery Case Reports, 2016 The congenital prepubic sinus is a rare type of fistula with a broad range of anatomical and histological diversity. We report the case of an 8-month-old boy with a congenital prepubic sinus where immunohistochemistry studies showed only squamous ...
Gabriel Nonnenmacher +2 more
doaj +1 more source
Herlyn-Werner-Wunderlich syndrome with double hematocolpos in one side hemivagina
Clinical and Experimental Obstetrics & Gynecology, 2022 Background: Herlyn-Werner-Wunderlich syndrome (HWWS) is an extremely rare Mullerian anomaly consisting of uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis.
You Jin Kim +5 more
doaj +1 more source