Results 41 to 50 of about 241,233 (172)

Characteristics of velopharyngeal dysfunction in 22q11.2 deletion syndrome: a retrospective case-control study

Journal of Otolaryngology - Head and Neck Surgery, 2020
Objective To identify and describe the dynamic features of velopharyngeal dysfunction (VPD) in patients with 22q11.2 deletion syndrome relative to patients with non-syndromic cleft palates. Study design Retrospective case-control study. Setting Pediatric
Sebastiano Failla, Peng You, Chandheeb Rajakumar, Anne Dworschak-Stokan, Philip C. Doyle, Murad Husein   +5 more
doaj   +1 more source

Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study

Epilepsia Open, EarlyView.
Abstract Objective To determine the frequency of monogenic variants and pathogenic copy number variants (CNVs) in adults with surgically treated temporal lobe epilepsy (TLE). Methods We performed exome sequencing (ES), including CNV analysis, in 45 adults with TLE who had previously undergone epilepsy surgery.
Antonia P. Pirker, Margot Ernst, Matias Wagner, Silvia B. Bonelli, Karin Trimmel, Judith Jud, Elisabeth Graf, Christian Dorfer, Karl Rössler, Susanne Aull‐Watschinger, Ekaterina Pataraia, Fritz Zimprich, Martin Krenn   +12 more
wiley   +1 more source

A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome [PDF]

, 2014
Otitis media (OM), the inflammation of the middle ear, is the most common disease and cause for surgery in infants worldwide. Chronic Otitis media with effusion (OME) often leads to conductive hearing loss and is a common feature of a number of ...
Fuchs, JC, Baldini, A, Linden, JF, Tucker, AS   +3 more
core  

Deleção 22q11.2 em pacientes com defeito cardíaco conotruncal e fenótipo da síndrome da deleção 22q11.2 Deleción 22q11.2 en pacientes con defecto cardiaco conotruncal y fenotipo del síndrome de la deleción 22q11.2 22q11.2 deletion in patients with conotruncal heart defect and del22q syndrome phenotype

Arquivos Brasileiros de Cardiologia, 2009
FUNDAMENTO: A síndrome da deleção 22q11.2 é a mais freqüente síndrome de microdeleção humana. O fenótipo é altamente variável e caracterizado por defeito cardíaco conotruncal, dismorfias faciais, insuficiência velofaríngea, dificuldade de aprendizagem e ...
Sintia Iole Nogueira Belangero, Fernanda T.S. Bellucco, Leslie Domenici Kulikowski, Denise M. Christofolini, Mirlene C. S. P. Cernach, Maria Isabel Melaragno   +5 more
doaj   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Evaluating the effectiveness of routine noninvasive prenatal screening for CNVs in 22q11.2 region in a cohort of 38,495 pregnancies

Scientific Reports
22q11.2 deletion syndrome (22q11.2 DS) is the second most common cause of congenital heart disease. The American College of Medical Genetics and Genomics (ACMG) has recently recommended implementing non-invasive prenatal screening (NIPS) for 22q11.2 DS ...
Xiaoyi Cong, Liang Hu, Yuanyuan Pei, Jiatong Zhong, Jinshuang Song, Lijuan Wen, Tong Zhang, Yanan Liu, Weiqiang Liu   +8 more
doaj   +1 more source

A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects

Molecular Genetics & Genomic Medicine, 2019
Background 22q11 deletion syndrome (22qDS) is caused by deletion of chromosome region 22q11.2. However, mosaic cases with 22q11.2 deletion syndrome (22q11.2DS) are rarely reported.
Weicheng Chen, Xiaodi Li, Liqun Sun, Wei Sheng, Guoying Huang   +4 more
doaj   +1 more source

Individuals with 22q11.2 deletion syndrome show intact prediction but reduced adaptation in responses to repeated sounds: Evidence from Bayesian mapping

NeuroImage: Clinical, 2019
One of the most common copy number variants, the 22q11.2 microdeletion, confers an increased risk for schizophrenia. Since schizophrenia has been associated with an aberrant neural response to repeated stimuli through both reduced adaptation and ...
Kit Melissa Larsen, Morten Mørup, Michelle Rosgaard Birknow, Elvira Fischer, Line Olsen, Michael Didriksen, William Frans Christiaan Baaré, Thomas Mears Werge, Marta Isabel Garrido, Hartwig Roman Siebner   +9 more
doaj   +1 more source

Prenatal diagnosis of rearrangements in the fetal 22q11.2 region

Molecular Cytogenetics, 2020
Background 22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there are no large sample data on the ...
Suping Li, Yuxia Jin, Jing Yang, Li Yang, Ping Tang, Chiyan Zhou, Liping Wu, Jinhua Dong, Jie Chen, Huaxiang Shen   +9 more
doaj   +1 more source

MicroRNA dysregulation, gene networks and risk for schizophrenia in 22q11.2 deletion syndrome

Frontiers in Neurology, 2014
The role of microRNAs (miRNAs) in the aetiology of schizophrenia is increasingly recognized. Microdeletions at chromosome 22q11.2 are recurrent structural variants that impart a high risk for schizophrenia and are found in up to 1% of all patients with ...
Daniele eMerico, Gregory eCostain, Gregory eCostain, Nancy eButcher, Nancy eButcher, William eWarnica, Lucas eOgura, Simon E Alfred, Linda eBrzustowicz, Anne eBassett, Anne eBassett, Anne eBassett, Anne eBassett, Anne eBassett   +13 more
doaj   +1 more source