Results 141 to 150 of about 794,449 (295)
Infantile or hypoplastic uterus? A proposal for a modification to the ESHRE/ESGE classification of female genital tract congenital abnormalities. [PDF]
Facts Views Vis Obgyn, 2022 Küçük T, Ata B.
europepmc +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Congenital abnormalities in dead-in-shell chicks associated with mixed bacterial infections. [PDF]
Heliyon, 2021 Hananeh WM +4 more
europepmc +1 more source
A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant
Animal Models and Experimental Medicine, EarlyView.Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund +7 more
wiley +1 more source
A case of congenital unilateral absence of the vas deferens
, 2013 Bi Mo,1 Vishnu Garla,2 Lawrence M Wyner1 1Department of Surgery, 2Department of Internal Medicine, Marshall University, Huntington, WV, USA Background: Congenital unilateral absence of the vas deferens occurs in 0.5%–1.0% of males.
Mo B, Wyner LM, Garla V
core
Animal Models and Experimental Medicine, EarlyView.Due to the complex pathophysiology of aortic valve disease (AVD) and the resulting lack of effective pharmacotherapy, existing animal models are valuable research tools, but each has its own strengths and limitations. This review systematically surveys the major AVD models, compares their induction methods, pathological features, advantages and ...
Liya Hou +4 more
wiley +1 more source
, 2016 Identification of Novel Central Nervous System Imaging Biomarkers Associated with Cognitive Abnormalities in Patients with Congenital Adrenal ...
Kirsty Hall (17398432) +10 more
core +1 more source
Congenital abnormalities of platelet membrane glycoproteins
Journal of Associated Medical Sciences, 2010 -
Preeyanat Vongchan
doaj
Association of neural tube defects with congenital abnormalities of the urogenital system in a Chinese cohort. [PDF]
BMC Pediatr, 2021 Hong ZH +5 more
europepmc +1 more source
Annals of Neurology, EarlyView.Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate +34 more
wiley +1 more source