Results 61 to 70 of about 10,384 (199)
Prenatal Diagnosis, Volume 46, Issue 7, Page 1096-1103, June 2026.ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam +5 more
wiley +1 more source
Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management
Diagnostics, 2022 Eczema is a classical characteristic not only in atopic dermatitis but also in various genodermatosis. Patients suffering from primary immunodeficiency diseases such as hyper-immunoglobulin E syndromes, Wiskott-Aldrich syndrome, immune dysregulation ...
Chaolan Pan, Anqi Zhao, Ming Li
doaj +1 more source
Immune Evasion of Helicobacter pylori and Extra‐Gastric Cancer Risk
Journal of Gastroenterology and Hepatology, Volume 41, Issue 6, Page 1722-1742, June 2026.ABSTRACT Helicobacter pylori (H. pylori) is a group 1 gastric carcinogen that plays a significant role in extra‐gastric digestive system cancers. H. pylori disrupts host cell homeostasis through expression of virulence factors leading to immune evasion as well as persistent gastric mucosal colonization. H. pylori infection has been shown to play a role
Evren Doruk Engin +2 more
wiley +1 more source
Thrombocytopenia and Postpartum Hemorrhage in a Woman with Chromosome 22q11.2 Deletion Syndrome
Case Reports in Obstetrics and Gynecology, 2016 Chromosome 22q11.2 deletion syndrome, also known as DiGeorge or velocardiofacial syndrome, is associated with a wide spectrum of phenotypic features. It is known to be associated with severe macrothrombocytopenia. Postpartum hemorrhage is a leading cause
Sarah L. Pachtman +2 more
doaj +1 more source
FEBS Open Bio, Volume 16, Issue 5, Page 921-931, May 2026.NF90–NF45 functions as a negative regulator of methyltransferase‐like 3/14 (METTL3/14)‐mediated N6‐methyladenosine (m6A) modification on primary microRNAs (pri‐miRNAs). NF90–NF45 binds to anti‐oncogenic pri‐miRNAs and inhibits their m6A modification, thereby suppressing the biogenesis of anti‐oncogenic miRNAs.
Takuma Higuchi +6 more
wiley +1 more source
Post-vaccination response in patients with diGeorge syndrome [PDF]
, 2012 DiGeorge syndrome is an autosomal dominantly inherited disease with an incidence of 1: 4 000. Its distinctive phenotypic manifestations are collectively referred to as CATCH 22. Its holders can cause serious clinical problems. One of the primary syndrome
Petříčková, Michaela
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Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases
Prenatal Diagnosis, Volume 46, Issue 5-6, Page 849-861, May 2026.ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei +9 more
wiley +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2010 Objective: To present the prenatal sonographic findings of Miller-Dieker lissencephaly syndrome (MDLS) associated with monosomy 17p (17p13.2 → pter) in a fetus. Case Report: A 25-year-old, gravida 3, para 1, woman was referred to Mackay Memorial Hospital
Chih-Ping Chen +8 more
doaj +1 more source
Hypoparathyroidism in DiGeorge syndrome [PDF]
, 2004 This brief review summarizes current knowledge concerning clinical characteristics of the hypoparathyroidism in DiGeorge syndrome (DGS) and pathogenetic hypotheses based upon studies in mouse models.
Baldini, Antonio
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