Results 71 to 80 of about 1,144,251 (159)
Molecular Cytogenetics, 2011 Background Deletions of chromosome 22q11 are present in over 90% of cases of DiGeorge or Velo-Cardio-Facial syndrome (DGS/VCFS). 15q11-q13 duplication is another recognized syndrome due to rearrangements of several genes, belonging to the category of ...
Papadopoulou Anna +12 more
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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
, 2016 DiGeorge sendromu (DGS), nöral krest gelişim ve migrasyon defektine bağlı oluşan en sık görülen mikrodelesyon sendromudur. Tipik delesyon bölgesinde 35'ten fazla gen bulunması nedeniyle fenotip oldukça değişkendir.
Göktürk, Bahar, Reisli, İsmail
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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
DiGeorge Syndrome Associated with Azoospermia: First case in the literature
Urology Research and Practice, 2019 DiGeorge syndrome (DGS) is one of the most frequently seen chromosomal abnormalities. The major genetic cause of DGS is a microdeletion on chromosome 22q11.2. Majority of the cases are diagnosed during their childhood.
Ayşegül Özcan, Yavuz Şahin
doaj +1 more source
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
Prenatal Diagnosis Of Catch22 Syndrome
Gynecology Obstetrics & Reproductive Medicine, 2010 Deletions involving the long arm of chromosome 22 (22q11) are involved in various congenital heart diseases and congenital anomalies. In most cases, patients also have the features of DiGeorge Syndrome (DGS), Velocardiofacial Syndrome (VCFS), Shprintzen ...
Rana Karayalçın +5 more
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Immunodeficiency in children with dysmorphic disorders
Pediatria i Medycyna Rodzinna, 2015 Ataxia telangiectasia, Nijmegen breakage syndrome and DiGeorge syndrome are congenital disorders belonging to the category of primary immunodeficiencies.
Marta Ogrodowczyk +3 more
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British Journal of Haematology, Volume 209, Issue 3, Page 870-871, September 2026.
Vandana Panakkal, Nana P. Matsumoto
wiley +1 more source
Revision Surgery in Permanent Patellar Dislocation in DiGeorge Syndrome
Case Reports in Orthopedics, 2015 A 29-year-old patient, suffering from DiGeorge syndrome, came to our attention with a history of persistent pain and patellar instability in the left knee after failure of arthroscopic lateral release and Elmslie-Trillat procedure. The patient was unable
Massimo Berruto +5 more
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