Works matching DE "22Q11 deletion syndrome"

Results: 787

Studying individual risk factors for self-harm in the UK Biobank: A polygenic scoring and Mendelian randomisation study.

Published in:

2020

By:

Lim, Kai Xiang;
Rijsdijk, Frühling;
Hagenaars, Saskia P.;
Socrates, Adam;
Choi, Shing Wan;
Coleman, Jonathan R. I.;
Glanville, Kylie P.;
Lewis, Cathryn M.;
Pingault, Jean-Baptiste

Publication type:

journal article

Prison vs. hospital for offenders with psychosis; effects on reoffending.

Published in:

Journal of Forensic Psychiatry & Psychology, 2019, v. 30, n. 6, p. 939, doi. 10.1080/14789949.2019.1651381

By:

Igoumenou, Artemis;
Kallis, Constantinos;
Huband, Nick;
Haque, Quazi;
Coid, Jeremy W.;
Duggan, Conor

Publication type:

Article

Rare occurrence of IDH2 mutation in adolescent oligodendroglioma with 1p/19q co-deletion: a case report.

Published in:

Child's Nervous System, 2020, v. 36, n. 12, p. 3109, doi. 10.1007/s00381-020-04614-6

By:

Rao, Shilpa;
Sivakoti, Sumitra;
Arivazhagan, Arimappamagan;
Santosh, Vani

Publication type:

Article

Behaviors related to autism spectrum disorder in children with developmental language disorder and children with 22q11.2 deletion syndrome.

Published in:

Autism & Developmental Language Impairments, 2023, p. 1, doi. 10.1177/23969415231179844

By:

Selten, Iris;
Boerma, Tessel;
Everaert, Emma;
Gerrits, Ellen;
Houben, Michiel;
Wijnen, Frank;
Vorstman, Jacob

Publication type:

Article

Behaviors related to autism spectrum disorder in children with developmental language disorder and children with 22q11.2 deletion syndrome.

Published in:

Autism & Developmental Language Impairments, 2023, v. 8, p. 1, doi. 10.1177/23969415231179844

By:

Selten, Iris;
Boerma, Tessel;
Everaert, Emma;
Gerrits, Ellen;
Houben, Michiel;
Wijnen, Frank;
Vorstman, Jacob

Publication type:

Article

A comparative study of insight between patients with schizophrenia and mania with psychosis.

Published in:

Indian Journal of Basic & Applied Medical Research, 2019, v. 8, n. 4, p. 15

By:

JAYASEELI, E.;
BOOBATHI, K. RAMESH;
RAVIKUMAR, T.

Publication type:

Article

PGR - 2 Demons In The Mirrors: A Childhood Case Report of 22q11.2 Deletion Syndrome First Addressed By Tele-Neuropsychological Evaluation During The COVID-19 Lockdown.

Published in:

Archives of Clinical Neuropsychology, 2023, v. 38, n. 7, p. 1137, doi. 10.1093/arclin/acad067.003

By:

Pizer, Jasmin H;
Myers, Melissa A;
Hill, Benjamin D

Publication type:

Article

A-264 Neurodevelopmental Disorder associated with 8p23.1 Microdeletion Syndrome: A Pediatric Case Study.

Published in:

2022

By:

Smith, Alphonso

Publication type:

Case Study

A-190 Neuropsychological profile of adolescent with 22q11.2 Deletion Syndrome.

Published in:: 2020
Publication type:: Abstract

A-046 The Need to Regulate Affect and Behavior Before Prescribing Stimulants.

Published in:: 2020
Publication type:: Abstract

A-251 3q29 Deletion Syndrome and Neuropsychological Functioning: Fraternal Twin Case Study.

Published in:: 2020
Publication type:: Abstract

Clinical variability of chromosome 22q11.2 deletion syndrome.

Published in:

Central European Journal of Immunology, 2017, v. 42, n. 4, p. 412, doi. 10.5114/ceji.2017.72818

By:

BOYARCHUK, OKSANA;
VOLYANSKA, LIUBOV;
DMYTRASH, LIUBOV

Publication type:

Article

Neurological soft signs and grey matter abnormalities in individuals with ultra‐high risk for psychosis.

Published in:

PsyCh Journal, 2019, v. 8, n. 2, p. 252, doi. 10.1002/pchj.258

By:

Kong, Li;
Cui, Huiru;
Zhang, Tianhong;
Wang, Ya;
Huang, Jia;
Zhu, Yikang;
Tang, Yingying;
Herold, Christina J.;
Schröder, Johannes;
Cheung, Eric F. C.;
Chan, Raymond C. K.;
Wang, Jijun

Publication type:

Article

First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende–Gupta and 22q11.2 Deletion Syndromes.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 4, p. 1, doi. 10.1002/mgg3.70096

By:

Racine, Caroline;
Garde, Aurore;
Martz, Olivia;
Safraou, Hana;
Eluard, Vinciane;
Rousseau, Thierry;
Marle, Nathalie;
Harizay, Fara T.;
Martin, Laurent;
Maraval, Julien;
Bruel, Ange‐Line;
Philippe, Christophe;
Thauvin‐Robinet, Christel;
Faivre, Laurence

Publication type:

Article

Antenatal description of large 4q13.2q21.23 deletion and outcomes.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 2, p. 1, doi. 10.1002/mgg3.2397

By:

Giguet‐Valard, Anna‐Gaëlle;
Thevenin, Christelle;
Dreux, Sophie;
Decatrelle, Valérie;
Juve, Marie‐Laure;
Yazza, Soraya;
Adenet, Clara;
Lesueur, Marion;
Bouvagnet, Patrice;
Gueneret, Michèle

Publication type:

Article

Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2116

By:

Brady, Lauren;
Ballantyne, Mark;
Duck, John;
Fisker, Thomas;
Kleefman, Ryan;
Li, Chumei;
Nfonsam, Landry;
Schultz, Lee‐Anne;
Tarnopolsky, Mark;
McCready, Elizabeth

Publication type:

Article

A novel partial de novo duplication of JARID2 gene causing a neurodevelopmental phenotype.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 11, p. 1, doi. 10.1002/mgg3.2037

By:

Viitasalo, Liisa;
Kettunen, Kaisa;
Kankainen, Matti;
Niemelä, Elina H.;
Kiiski, Kirsi

Publication type:

Article

De novo 22q11.2 deletions and auricular findings in two Chinese patients with microtia.

Published in:

2022

By:

Si, Nuo;
Zhang, Zeya;
Huang, Xin;
Wang, Chanchen;
Guo, Peipei;
Pan, Bo;
Jiang, Haiyue

Publication type:

Case Study

CHL1 deletion is associated with cognitive and language disabilities – Case report and review of literature.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1725

By:

Tsuboyama, Melissa;
Iqbal, Mohammed Anwar

Publication type:

Article

The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l‐hydroxylase deficiency in a Chinese cohort.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1501

By:

Liu, Yang;
Zheng, Jie;
Liu, Nan;
Xu, Xiaowei;
Zhang, Xinjie;
Zhang, Ying;
Li, Guoxu;
Liu, Geli;
Cai, Chunquan;
Shu, Jianbo

Publication type:

Article

Two novel mutations in the MCM8 gene shared by two Chinese siblings with primary ovarian insufficiency and short stature.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1396

By:

Wang, Fei;
Guo, Sheng;
Li, Pin

Publication type:

Article

Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1313

By:

Liu, Jing;
Lin, Pengsiyuan;
Pang, Jialun;
Jia, Zhengjun;
Peng, Ying;
Xi, Hui;
Wu, Lingqian;
Li, Zhuo;
Wang, Hua

Publication type:

Article

Sleep patterns and problems among children with 22q11 deletion syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 6, p. 1, doi. 10.1002/mgg3.1153

By:

Arganbright, Jill M.;
Tracy, Meghan;
Hughes, Susan Starling;
Ingram, David G.

Publication type:

Article

Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 5, p. 1, doi. 10.1002/mgg3.1211

By:

Wilton, Katelynn M.;
Gunderson, Lauren B.;
Hasadsri, Linda;
Wood, Christopher P.;
Schimmenti, Lisa A.

Publication type:

Article

Unexpected phenotype in a frameshift mutation of PTCH1.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.987

By:

Beltrami, Benedetta;
Prada, Elisabetta;
Tolva, Gianluca;
Scuvera, Giulietta;
Silipigni, Rosamaria;
Graziani, Daniela;
Bulfamante, Gaetano;
Gervasini, Cristina;
Marchisio, Paola;
Milani, Donatella

Publication type:

Article

Chromosomal microarray and whole‐exome sequence analysis in Taiwanese patients with autism spectrum disorder.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.996

By:

Chang, Ya‐Sian;
Lin, Chien‐Yu;
Huang, Hsi‐Yuan;
Chang, Jan‐Gowth;
Kuo, Haung‐Tsung

Publication type:

Article

Gene‐level genome‐wide association analysis of suicide attempt, a preliminary study in a psychiatric Mexican population.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.983

By:

González‐Castro, Thelma Beatriz;
Martínez‐Magaña, José Jaime;
Tovilla‐Zárate, Carlos Alfonso;
Juárez‐Rojop, Isela Esther;
Sarmiento, Emmanuel;
Genis‐Mendoza, Alma Delia;
Nicolini, Humberto

Publication type:

Article

Clinical and genetic analysis of ZTTK syndrome caused by SON heterozygous mutation c.394C>T.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.953

By:

Yang, Yu;
Xu, Lei;
Yu, Zhen;
Huang, Hui;
Yang, Li

Publication type:

Article

Whole‐genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.876

By:

Zheng, Bixia;
Chen, Qiuxia;
Wang, Chunli;
Zhou, Wei;
Chen, Ying;
Ding, Guixia;
Jia, Zhanjun;
Zhang, Aihua;
Huang, SongMing

Publication type:

Article

A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.849

By:

Verhoeven, Willem;
Egger, Jos;
Kipp, Janneke;
Verheul‐ aan de Wiel, Jiska;
Ockeloen, Charlotte;
Kleefstra, Tjitske;
Pfundt, Rolph

Publication type:

Article

P13.07: Fetal aortic arch and its branches anomalies: prenatal ultrasound, vascular cast and gene detection.

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 171, doi. 10.1002/uog.19719

By:

Weng, Z.;
Hao, X.;
Gao, S.;
Ge, S.;
He, Y.

Publication type:

Article

P02.05: Is prenatal detection of isolated aberrant right subclavian artery associated with aneuploidy and 22q11 microdeletion?

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 142, doi. 10.1002/uog.19629

By:

Cheong, C.;
Thia, E.;
Yeo, S.

Publication type:

Article

P01.02: Frequency of 22q11 microdeletion syndrome in fetuses with conotruncal heart disease.

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 138, doi. 10.1002/uog.19616

By:

Hao, X.;
Gu, X.;
Sun, H.;
Ge, S.;
He, Y.

Publication type:

Article

Clinical experience with single-nucleotide polymorphism-based non-invasive prenatal screening for 22q11.2 deletion syndrome.

Published in:

2016

By:

Gross, S. J.;
Stosic, M.;
McDonald‐McGinn, D. M.;
Bassett, A. S.;
Norvez, A.;
Dhamankar, R.;
Kobara, K.;
Kirkizlar, E.;
Zimmermann, B.;
Wayham, N.;
Babiarz, J. E.;
Ryan, A.;
Jinnett, K. N.;
Demko, Z.;
Benn, P.

Publication type:

journal article

Assessment of cardiac angle in fetuses with congenital heart disease at risk of 22q11.2 deletion.

Published in:

2015

By:

Vigneswaran, T. V.;
Kametas, N. A.;
Zinevich, Y.;
Bataeva, R.;
Allan, L. D.;
Zidere, V.

Publication type:

journal article

Reliability of fetal thymus measurement in prediction of 22q11.2 deletion: a retrospective study using four-dimensional spatiotemporal image correlation volumes Reliability of fetal thymus measurement in prediction of 22q11.2 deletion: a retrospective study using four-dimensional spatiotemporal image correlation volumes

Published in:

Ultrasound in Obstetrics & Gynecology, 2013, v. 41, n. 2, p. 172, doi. 10.1002/uog.11194

By:

Bataeva, R.;
Bellsham‐Revell, H.;
Zidere, V.;
Allan, L. D.

Publication type:

Article

Right aortic arch with patent right ductus arteriosus and normal heart.

Published in:

Ultrasound in Obstetrics & Gynecology, 2012, v. 40, n. 1, p. 115, doi. 10.1002/uog.10076

By:

Iliescu, D. G.;
Comanescu, A. C.;
Tudorache, S.;
Cernea, N.

Publication type:

Article

Medical and dental characteristics of children with chromosome 22q11.2 deletion syndrome at the Royal Children's Hospital, Melbourne.

Published in:

International Journal of Paediatric Dentistry, 2021, v. 31, n. 6, p. 682, doi. 10.1111/ipd.12755

By:

Wong, Deborah H.;
Rajan, Sadna;
Hallett, Kerrod B.;
Manton, David J.

Publication type:

Article

Syndromes and Genetics.

Published in:: 2021
Publication type:: Abstract

Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy.

Published in:

Case Reports in Genetics, 2020, p. 1, doi. 10.1155/2020/6143050

By:

Al-Qattan, Mohammad M.;
Rahbeeni, Zuhair A.;
Al-Hassnan, Zuhair N.;
Jarman, Abdulaziz;
Rafique, Atif;
Mahabbat, Nehal;
Alsufayan, Faris A. S.

Publication type:

Article

Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes.

Published in:

Case Reports in Genetics, 2019, p. 1, doi. 10.1155/2019/2687595

By:

Hettiarachchi, D.;
Pathirana, B. A. P. S.;
Kumarasiri, P. J.;
Dissanayake, V. H. W.

Publication type:

Article

Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit.

Published in:

European Journal of Pediatrics, 2021, v. 180, n. 10, p. 3219, doi. 10.1007/s00431-021-04097-w

By:

Miletic, Aleksandra;
Stojanovic, Jelena Ruml;
Parezanovic, Vojislav;
Rsovac, Snezana;
Drakulic, Danijela;
Soldatovic, Ivan;
Mijovic, Marija;
Bosankic, Brankica;
Petrovic, Hristina;
Borlja, Nikola;
Milivojevic, Milena;
Marjanovic, Ana;
Brankovic, Marija;
Cuturilo, Goran

Publication type:

Article

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.

Published in:

Nature Communications, 2023, n. 1, p. 1, doi. 10.1038/s41467-023-39539-6

By:

Montanucci, Ludovica;
Lewis-Smith, David;
Collins, Ryan L.;
Niestroj, Lisa-Marie;
Parthasarathy, Shridhar;
Xian, Julie;
Ganesan, Shiva;
Macnee, Marie;
Brünger, Tobias;
Thomas, Rhys H.;
Talkowski, Michael;
Motelow, Joshua E.;
Povysil, Gundula;
Dhindsa, Ryan S.;
Stanley, Kate E.;
Allen, Andrew S.;
Goldstein, David B.;
Feng, Yen-Chen Anne;
Howrigan, Daniel P.;
Abbott, Liam E.

Publication type:

Article

Structural Connectivity and Emotion Recognition Impairment in Children and Adolescents with Chromosome 22q11.2 Deletion Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2023, v. 53, n. 10, p. 4021, doi. 10.1007/s10803-022-05675-z

By:

Sanders, Ashley F. P.;
Hobbs, Diana A.;
Knaus, Tracey A.;
Beaton, Elliott A.

Publication type:

Article

Episodic Future Thinking in Autism Spectrum Disorder and 22q11.2 Deletion Syndrome: Association with Anticipatory Pleasure and Social Functioning.

Published in:

Journal of Autism & Developmental Disorders, 2021, v. 51, n. 12, p. 4587, doi. 10.1007/s10803-021-04903-2

By:

Feller, Clémence;
Dubois, Charlotte;
Eliez, Stephan;
Schneider, Maude

Publication type:

Article

Mother-Child Interaction as a Window to a Unique Social Phenotype in 22q11.2 Deletion Syndrome and in Williams Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2015, v. 45, n. 8, p. 2567, doi. 10.1007/s10803-015-2425-6

By:

Weisman, Omri;
Feldman, Ruth;
Burg-Malki, Merav;
Keren, Miri;
Geva, Ronny;
Diesendruck, Gil;
Gothelf, Doron

Publication type:

Article

Social Impairments in Chromosome 22q11.2 Deletion Syndrome (22q11.2DS): Autism Spectrum Disorder or a Different Endophenotype?

Published in:

Journal of Autism & Developmental Disorders, 2014, v. 44, n. 4, p. 739, doi. 10.1007/s10803-013-1920-x

By:

Angkustsiri, Kathleen;
Goodlin-Jones, Beth;
Deprey, Lesley;
Brahmbhatt, Khyati;
Harris, Susan;
Simon, Tony

Publication type:

Article

The Relationship between Motor Symptoms, Signs, and Parkinsonism with Facial Emotion Recognition Deficits in Individuals with 22q11.2 Deletion Syndrome at High Genetic Risk for Psychosis.

Published in:

Acta Neurologica Scandinavica, 2023, p. 1, doi. 10.1155/2023/8546610

By:

Accinni, Tommaso;
Fanella, Martina;
Frascarelli, Marianna;
Buzzanca, Antonino;
Kotzalidis, Georgios D.;
Putotto, Carolina;
Marino, Bruno;
Panzera, Alessia;
Moschillo, Antonella;
Pasquini, Massimo;
Biondi, Massimo;
Di Bonaventura, Carlo;
Di Fabio, Fabio

Publication type:

Article

When the World Breaks Down: A 3-Stage Existential Model of Nihilism in Schizophrenia.

Published in:

Psychopathology, 2021, v. 54, n. 4, p. 169, doi. 10.1159/000516814

By:

Klar, Philipp;
Northoff, Georg

Publication type:

Article

What Makes Soteria Work? On the Effect of a Therapeutic Milieu on Self-Disturbances in the Schizophrenia Syndrome.

Published in:

Psychopathology, 2019, v. 52, n. 4, p. 213, doi. 10.1159/000501816

By:

Nischk, Daniel;
Rusch, Johannes

Publication type:

Article