Results 41 to 50 of about 1,354,450 (122)
The Journal of Pathology, Volume 270, Issue 1, Page 83-97, September 2026.Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan +9 more
wiley +1 more source
An exploration of the experiences of children and young people with 22q11.2 Deletion Syndrome [PDF]
Background: 22q11.2 deletion syndrome is a complex and highly variable genetic syndrome characterised by multiple complex physical abnormalities and neurodevelopmental challenges affecting both social and educational outcomes for young people.
Ward, H.
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When to consider an inborn error of immunity: clues for physicians
Internal Medicine Journal, Volume 56, Issue 9, Page 1488-1499, September 2026.Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley +1 more source
Empathy in the Context of Sibling Relationships: A Meta‐Analysis and Systematic Review
Personal Relationships, Volume 33, Issue 3, September 2026.ABSTRACT Sibling interactions offer countless opportunities to practice empathic behavior and learn about emotional expression of others. In line, various studies have examined links between sibling relationships and empathy. Aiming to provide a systematic overview of this field of research, this meta‐analysis synthesizes studies and evaluates their ...
Annika L. Klugmann, Tina Kretschmer
wiley +1 more source
, 2014 [[abstract]]Objective To report prenatal diagnosis of 22q11.2 deletion syndrome in a pregnancy with congenital heart defects in the fetus. Case report A 26-year-old, primigravid woman was referred for counseling at 24 weeks of gestation because of ...
Yu-Ling Kuo;Chih-Ping Chen;Liang-Kai Wang;Tsang-Ming Ko;Tung-Yao Chang;Schu-Rern Chern;Peih-Shan Wu;Yu-Ting Chen;Shu-Yuan Chang
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22q11 deletion syndrome: current perspective
, 2015 Bülent Hacihamdioğlu,1 Duygu Hacihamdioğlu,2 Kenan Delil3 1Department of Pediatric Endocrinology, 2Department of Pediatric Nephrology, GATA Haydarpasa Training Hospital, 3Department of Medical Genetics, Marmara University, School of Medicine ...
Hacıhamdioğlu B +2 more
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Neurodevelopmental outcome in 22q11.2 deletion syndrome and management
, 2018 The 22q11.2 deletion syndrome (22q11.2 DS) places affected individuals at an increased risk for neurodevelopmental/cognitive, behavioral and social-emotional difficulties.
Swillen, Ann +2 more
core +1 more source
From a developmental atlas to maps of disease origin
Clinical and Translational Medicine, Volume 16, Issue 9, September 2026.
Jiexue Pan +6 more
wiley +1 more source
4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome
, 2011 Small terminal or interstitial deletions involving bands 4q34 and 4q35 have been described in several patients with a relatively mild phenotype such as mild to moderate intellectual disability and minor dysmorphic features.
Menten, Björn +13 more
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Deletion Breakpoint Analysis in 22q11.2 Deletion Syndrome
, 2002 Conotruncal anomaly face syndrome (CAFS), DiGeorge syndrome (DGS), and velo-cardio-facial syndrome have similar but varying phenotypic spectra, i.e., cardiac defects, abnormal facies, thymic hypoplasia, cleft palate and hypocalcemia, and share deletion ...
古谷, 喜幸 +4 more
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