Works matching DE "DIGEORGE syndrome"

Results: 488

Solitary median maxillary central incisor syndrome caused by 22q11.2 microdeletion.

Published in:

Clinical Pediatric Endocrinology, 2025, v. 34, n. 1, p. 54, doi. 10.1297/cpe.2024-0024

By:

Hirohito Shima;
Akinobu Miura;
Sayaka Kawashima;
Ikumi Umeki;
Chisumi Sogi;
Dai Suzuki;
Yusuke Takezawa;
Ryo Sato;
Natsuko Arai-Ichinoi;
Miki Kamimura;
Ikuma Fujiwara;
Mika Adachi;
Aya Yamada;
Hiroshi Kawame;
Atsuo Kikuchi;
Junko Kanno

Publication type:

Article

Lymphoproliferation, Autoimmunity, and Recurrent Infections: Which Primary Immunodeficiency?

Published in:

Turkish Archives of Pediatrics, 2024, v. 59, n. 1, p. 106, doi. 10.5152/TurkArchPediatr.2023.23157

By:

Öztürk, Gökcan;
Haskoloğlu, Şule;
Deveci, Nazlı;
Erkmen, Hasret;
Çelik, Nur Ayça;
Sucak, Gülsan;
Ceylaner, Serdar;
İkincioğulları, Aydan;
Doğu, Figen

Publication type:

Article

Treatment‐resistant schizophrenia with 22q11.2 deletion and additional genetic defects.

Published in:

2024

By:

Furukawa, Sawako;
Arafuka, Shusei;
Kato, Hidekazu;
Ogi, Tomoo;
Ozaki, Norio;
Ikeda, Masashi;
Kushima, Itaru

Publication type:

Case Study

A case study of the utilization of clozapine treatment for treatment‐resistant schizophrenia associated with 22q11.2 deletion syndrome.

Published in:

2023

By:

Tsurue, Arisa;
Funahashi, Hideki;
Tsurue, Keiichi;
Kawano, Masahiko;
Ishida, Yasushi;
Hirano, Yoji

Publication type:

Case Study

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-053 Importance of Neuropsychological Assessment in a Patient with DiGeorge Syndrome.

Published in:: 2020
Publication type:: Abstract

Systemic lupus erythematosus in a patient with 22q11.2 deletion syndrome: A case report and review of the literature.

Published in:

2024

By:

Sun, Chen;
Han, Pingyang;
Yan, Juzhen

Publication type:

Case Study

Successful treatment of severe allergic asthma with omalizumab in a girl with DiGeorge syndrome.

Published in:

Central European Journal of Immunology, 2020, v. 45, n. 3, p. 361, doi. 10.5114/ceji.2020.101269

By:

JESENAK, MILOS;
ZELIESKOVA, MARIA;
REPKO, MIROSLAV;
BANOVCIN, PETER

Publication type:

Article

Do microdeletions lead to immune deficiency?

Published in:

Central European Journal of Immunology, 2020, v. 45, n. 1, p. 69, doi. 10.5114/ceji.2020.94671

By:

KARAMAN, SAIT;
HAZAN, FILIZ;
ERDEM, SEMIHA BAHÇECI;
GÜLEZ, NESRIN;
GENEL, FERAH

Publication type:

Article

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

Investigational Management for a Positive NIPT Result - Case Report.

Published in:

Medicina Moderna, 2024, v. 31, n. 2, p. 187, doi. 10.31689/rmm.2024.31.2.187

By:

STOICA, Elena Evelina;
BOHILTEA, Laurentiu Camil;
Gradinaru-FOMETESCU, Delia-Maria;
CIRSTOIU, Monica Mihaela

Publication type:

Article

Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels.

Published in:

Hastings Center Report, 2018, v. 48, p. S7, doi. 10.1002/hast.875

By:

Puck, Jennifer M.

Publication type:

Article

Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 8, p. 1, doi. 10.1002/mgg3.2181

By:

Peng, Gang;
Zhou, Qinghua;
Chai, Hongyan;
Wen, Jiadi;
Zhao, Hongyu;
Taylor, Hugh S.;
Jiang, Yong‐Hui;
Li, Peining

Publication type:

Article

Prenatal diagnosis of BACs‐on‐Beads assay in 1520 cases from Fujian Province, China.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1446

By:

Wang, Yan;
Zhang, Min;
Chen, Lingji;
Huang, Hailong;
Xu, Liangpu

Publication type:

Article

Immune cytopenias as a continuum in inborn errors of immunity: An in‐depth clinical and immunological exploration.

Published in:

Immunity, Inflammation & Disease, 2021, v. 9, n. 2, p. 583, doi. 10.1002/iid3.420

By:

Zama, Daniele;
Conti, Francesca;
Moratti, Mattia;
Cantarini, Maria E.;
Facchini, Elena;
Rivalta, Beatrice;
Rondelli, Roberto;
Prete, Arcangelo;
Ferrari, Simona;
Seri, Marco;
Pession, Andrea

Publication type:

Article

OP07.11: CSP dilation in mid-trimester fetuses with DiGeorge syndrome: a case-control study.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 70, doi. 10.1002/uog.17760

By:

Pylypjuk, C.;
Hadfield, M.;
Chodirker, B.

Publication type:

Article

Identification and management of fetal isolated right-sided aortic arch in an unselected population.

Published in:

2016

By:

Mogra, R.;
Kesby, G.;
Sholler, G.;
Hyett, J.

Publication type:

journal article

Risk of 22q11.2 deletion in fetuses with right aortic arch and without intracardiac anomalies.

Published in:

2016

By:

Perolo, A.;
De Robertis, V.;
Cataneo, I.;
Volpe, N.;
Campobasso, G.;
Frusca, T.;
Ghi, T.;
Prandstraller, D.;
Pilu, G.;
Volpe, P.

Publication type:

journal 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

Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis.

Published in:

2015

By:

Grande, M.;
Jansen, F. A. R.;
Blumenfeld, Y. J.;
Fisher, A.;
Odibo, A. O.;
Haak, M. C.;
Borrell, A.

Publication type:

journal article

Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization.

Published in:

Ultrasound in Obstetrics & Gynecology, 2014, v. 43, n. 4, p. 396, doi. 10.1002/uog.12550

By:

Chen, M.;
Yang, Y.‐S.;
Shih, J.‐C.;
Lin, W.‐H.;
Lee, D.‐J.;
Lin, Y.‐S.;
Chou, C.‐H.;
Cameron, A. D.;
Ginsberg, N. A.;
Chen, C.‐A.;
Lee, M.‐L.;
Ma, G.‐C.

Publication type:

Article

Thymic Epithelium Abnormalities in DiGeorge and Down Syndrome Patients Contribute to Dysregulation in T Cell Development.

Published in:

Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00447

By:

Marcovecchio, Genni Enza;
Bortolomai, Ileana;
Ferrua, Francesca;
Fontana, Elena;
Imberti, Luisa;
Conforti, Erika;
Amodio, Donato;
Bergante, Sonia;
Macchiarulo, Giulia;
D'Oria, Veronica;
Conti, Francesca;
Di Cesare, Silvia;
Fousteri, Georgia;
Carotti, Adriano;
Giamberti, Alessandro;
Poliani, Pietro Luigi;
Notarangelo, Luigi D.;
Cancrini, Caterina;
Villa, Anna;
Bosticardo, Marita

Publication type:

Article

Follicular Helper T Cells in DiGeorge Syndrome.

Published in:

Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.01730

By:

Klocperk, Adam;
Paračková, Zuzana;
Bloomfield, Markéta;
Rataj, Michal;
Pokorný, Jan;
Unger, Susanne;
Warnatz, Klaus;
Šedivá, Anna

Publication type:

Article

Thrombocytopenia and Postpartum Hemorrhage in a Woman with Chromosome 22q11.2 Deletion Syndrome.

Published in:

2016

By:

Pachtman, Sarah L.;
Deng, Kathy;
Nanda, Deepak

Publication type:

Case Study

A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening.

Published in:

2023

By:

Hicks, Melissa A.;
Lalonde, Emilie;
Zoladz, Jessica;
Gonik, Bernard;
Ebrahim, Salah

Publication type:

Case Study

Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome.

Published in:

2010

By:

Lima, Kari;
Følling, Ivar;
Eiklid, Kristin L.;
Natvig, Solveig;
Abrahamsen, Tore G.;
Følling, Ivar

Publication type:

journal article

Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism.

Published in:

2010

By:

Inoue, Hirosuke;
Takada, Hidetoshi;
Kusuda, Takeshi;
Goto, Takako;
Ochiai, Masayuki;
Kinjo, Tadamune;
Muneuchi, Jun;
Takahata, Yasushi;
Takahashi, Naomi;
Morio, Tomohiro;
Kosaki, Kenjiro;
Hara, Toshiro

Publication type:

journal article

Behavioral Phenotypes and Comorbidity in 3q29 Deletion Syndrome: Results from the 3q29 Registry.

Published in:

Journal of Autism & Developmental Disorders, 2025, v. 55, n. 2, p. 667, doi. 10.1007/s10803-023-06218-w

By:

Pollak, Rebecca M.;
Mortillo, Michael;
Murphy, Melissa M.;
Mulle, Jennifer G.

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

Characterizing Daily-Life Social Interactions in Adolescents and Young Adults with Neurodevelopmental Disorders: A Comparison Between Individuals with Autism Spectrum Disorders and 22q11.2 Deletion Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2023, v. 53, n. 1, p. 245, doi. 10.1007/s10803-021-05423-9

By:

Feller, Clémence;
Ilen, Laura;
Eliez, Stephan;
Schneider, Maude

Publication type:

Article

The Importance of Understanding Individual Differences of Emotion Regulation Abilities in 22q11.2 Deletion Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2022, v. 52, n. 7, p. 3076, doi. 10.1007/s10803-021-05172-9

By:

Campbell, L. E.;
Swaab, L.;
Freeman, E. E.;
McCormack, L.;
Simon, T. J.;
Angkustsiri, K.;
McCabe, K. L.

Publication type:

Article

Childhood Predictors of Young Adult Social Functioning in 22q11.2 Deletion Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2017, v. 47, n. 8, p. 2480, doi. 10.1007/s10803-017-3165-6

By:

Wagner, Kayla;
Kates, Wendy;
Fremont, Wanda;
Antshel, Kevin

Publication type:

Article

Working Memory Impairments in Chromosome 22q11.2 Deletion Syndrome: The Roles of Anxiety and Stress Physiology.

Published in:

Journal of Autism & Developmental Disorders, 2017, v. 47, n. 4, p. 992, doi. 10.1007/s10803-016-3011-2

By:

Sanders, Ashley;
Hobbs, Diana;
Stephenson, David;
Laird, Robert;
Beaton, Elliott

Publication type:

Article

Divergent Patterns of Social Cognition Performance in Autism and 22q11.2 Deletion Syndrome (22q11DS).

Published in:

Journal of Autism & Developmental Disorders, 2013, v. 43, n. 8, p. 1926, doi. 10.1007/s10803-012-1742-2

By:

McCabe, Kathryn;
Melville, Jessica;
Rich, Dominique;
Strutt, Paul;
Cooper, Gavin;
Loughland, Carmel;
Schall, Ulrich;
Campbell, Linda

Publication type:

Article

Learning Curve Analyses in Neurodevelopmental Disorders: Are Children with Autism Spectrum Disorder Truly Visual Learners?

Published in:

Journal of Autism & Developmental Disorders, 2013, v. 43, n. 4, p. 880, doi. 10.1007/s10803-012-1630-9

By:

Erdődi, Lászlό;
Lajiness-O'Neill, Renée;
Schmitt, Thomas

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

Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T-cell receptor excision circle-based method in Victorian dried blood spots.

Published in:

Journal of Paediatrics & Child Health, 2018, v. 54, n. 1, p. 14, doi. 10.1111/jpc.13659

By:

Richards, Stephanie;
Pitt, James;
Choo, Sharon

Publication type:

Article

Evaluación ecográfica del timo fetal.

Published in:

Ginecología y Obstetricia de México, 2014, v. 82, n. 1, p. 43

By:

Muñoz-Chápuli Gutiérrez, Mar;
Bravo Arribas, Coral;
Gámez-Alderete, Francisco;
Pérez Fernández-Pacheco, Ricardo;
Ortiz-Quintana, Luis;
De León-Luis, Juan

Publication type:

Article

In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS.

Published in:

PLoS ONE, 2024, v. 19, n. 6, p. 1, doi. 10.1371/journal.pone.0298092

By:

Almakhari, Maitha;
Chen, Yan;
Kong, Amanda Shen-Yee;
Moradigaravand, Danesh;
Lai, Kok-Song;
Lim, Swee-Hua Erin;
Loh, Jiun-Yan;
Maran, Sathiya

Publication type:

Article

Associations between acute and chronic lifetime stressors and psychosis-risk symptoms in individuals with 22q11.2 copy number variants.

Published in:

Psychological Medicine, 2023, v. 53, n. 15, p. 7222, doi. 10.1017/S0033291723000740

By:

Modasi, Jasmine;
Khachadourian, Vahe;
O'Hora, Kathleen;
Kushan, Leila;
Slavich, George M.;
Shields, Grant S.;
Velthorst, Eva;
Bearden, Carrie E.

Publication type:

Article

Sleep problems and associations with psychopathology and cognition in young people with 22q11.2 deletion syndrome (22q11.2DS).

Published in:

Psychological Medicine, 2020, v. 50, n. 7, p. 1191, doi. 10.1017/S0033291719001119

By:

Moulding, H. A.;
Bartsch, U.;
Hall, J.;
Jones, M. W.;
Linden, D. E.;
Owen, M. J.;
van den Bree, M. B. M.

Publication type:

Article

Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated.

Published in:

Psychological Medicine, 2014, v. 44, n. 6, p. 1267, doi. 10.1017/S0033291713001669

By:

Tang, S. X.;
Yi, J. J.;
Calkins, M. E.;
Whinna, D. A.;
Kohler, C. G.;
Souders, M. C.;
McDonald-McGinn, D. M.;
Zackai, E. H.;
Emanuel, B. S.;
Gur, R. C.;
Gur, R. E.

Publication type:

Article

The Subtlety of 22q11.2 Deletion Syndrome in a Preterm Neonate.

Published in:

Neonatal Network, 2023, v. 42, n. 3, p. 137, doi. 10.1891/NN-2022-0023

By:

Cline, Laura;
Aranda, Paola;
Jnah, Amy

Publication type:

Article

Extracorporeal membrane oxygenation in children with heart disease and del22q11 syndrome: a review of the Extracorporeal Life Support Organization Registry.

Published in:

Perfusion, 2015, v. 30, n. 8, p. 660, doi. 10.1177/0267659115578945

By:

Prodhan, P.;
Gossett, J. M.;
Rycus, P. T.;
Gupta, P.

Publication type:

Article

Commentary on: Attention deficit/hyperactivity disorder after neonatal surgery: review of the pathophysiology and risk factors.

Published in:

Perfusion, 2013, v. 28, n. 6, p. 495, doi. 10.1177/0267659113499506

By:

Sistino, JJ

Publication type:

Article

Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next‐Generation Sequencing Combined with TBX1‐MLPA.

Published in:

Journal of Bone & Mineral Research, 2019, v. 34, n. 12, p. 2254, doi. 10.1002/jbmr.3854

By:

Wang, Yabing;
Nie, Min;
Wang, Ou;
Li, Yuepeng;
Jiang, Yan;
Li, Mei;
Xia, Weibo;
Xing, Xiaoping

Publication type:

Article

DiGeorge Syndrome with Sacral Myelomeningocele and Epilepsy.

Published in:

Journal of Pediatric Neurosciences, 2017, v. 12, n. 4, p. 344, doi. 10.4103/jpn.JPN_92_17

By:

Alkan, Gülsüm;
Emiroglu, Melike Keser;
Kartal, Ayse

Publication type:

Article

Perinatal Diagnosis and Management of a Case with Interrupted Aortic Arch, Pulmonary Valve Dysplasia and 22q11.2 Deletion: A Case Report.

Published in:

2023

By:

Vlădăreanu, Radu;
Maier, Călina;
Tocariu, Raluca;
Șerban, Marcela;
Brătilă, Elvira

Publication type:

Case Study

Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report.

Published in:

2017

By:

Allegrini, D.;
Penco, S.;
Pece, A.;
Autelitano, A.;
Montesano, G.;
Paci, S.;
Montanari, C.;
Maver, A.;
Peterlin, B.;
Damante, G.;
Rossetti, L.

Publication type:

journal article

CircLONP2 enhances colorectal carcinoma invasion and metastasis through modulating the maturation and exosomal dissemination of microRNA-17.

Published in:

Molecular Cancer, 2020, v. 19, n. 1, p. 1, doi. 10.1186/s12943-020-01184-8

By:

Han, Kai;
Wang, Feng-Wei;
Cao, Chen-Hui;
Ling, Han;
Chen, Jie-Wei;
Chen, Ri-Xin;
Feng, Zi-Hao;
Luo, Jie;
Jin, Xiao-Han;
Duan, Jin-Ling;
Li, Shu-Man;
Ma, Ning-Fang;
Yun, Jing-Ping;
Guan, Xin-Yuan;
Pan, Zhi-Zhong;
Lan, Ping;
Xu, Rui-Hua;
Xie, Dan

Publication type:

Article