Works about DIGEORGE syndrome

Results: 500

Prenatal Screening for Chromosomal Defects.

Published in:

Reproductive Medicine, 2025, v. 6, n. 2, p. 15, doi. 10.3390/reprodmed6020015

By:

Frisova, Veronika

Publication type:

Article

22q11.2 Deletion Syndrome: Cognitive, Visuomotor, and Adaptive Functioning Followed Longitudinally.

Published in:

Brain & Behavior, 2025, v. 15, n. 6, p. 1, doi. 10.1002/brb3.70638

By:

Wallin, L.;
Gillberg, C.;
Knutsson, J.;
Fernell, E.;
Gillberg, I. C.;
Billstedt, E.

Publication type:

Article

Esophageal atresia and tracheo-esophageal fistula associated with coarctation of the aorta, CHARGE association, and DiGeorge syndrome: a case report and literature review.

Published in:

2008

By:

Kyeong Deok Lee;
Okazaki, Tadaharu;
Kato, Yoshifumi;
Lane, Geoffrey J.;
Yamataka, Atsuyuki;
Lee, Kyeong Deok

Publication type:

journal article

FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities.

Published in:

2006

By:

Yakut, Tahsin;
Kilic, Sara Sebnem;
Cil, Ergun;
Yapici, Esra;
Egeli, Unal

Publication type:

journal article

Symptomatic anal anomalies in chromosome 22q11 deletion syndrome: a report of three patients.

Published in:

2006

By:

Al-Mudaffer, Mudaffer;
Puri, Prem;
Reardon, William

Publication type:

journal article

DiGeorge Syndrome Diagnosed at Age 38: Challenges in Low-resource Settings and Implications of a Missed Diagnosis.

Published in:

JCEM Case Reports, 2024, v. 2, n. 7, p. 1, doi. 10.1210/jcemcr/luae136

By:

Kuenstner, William;
Rapisuwon, Suthee;
Shobab, Leila

Publication type:

Article

The mitochondrial citrate carrier SLC25A1 regulates metabolic reprogramming and morphogenesis in the developing heart.

Published in:

Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-07110-8

By:

Ohanele, Chiemela;
Peoples, Jessica N.;
Karlstaedt, Anja;
Geiger, Joshua T.;
Gayle, Ashley D.;
Ghazal, Nasab;
Sohani, Fateemaa;
Brown, Milton E.;
Davis, Michael E.;
Porter Jr., George A.;
Faundez, Victor;
Kwong, Jennifer Q.

Publication type:

Article

DiGeorge -22q11.2 mikrodeléciós szindróma.

Published in:

Gyermekgyógyászat, 2022, v. 73, n. 4, p. 269

By:

Violetta, Csákváry

Publication type:

Article

Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 8, p. 2223, doi. 10.3390/jcm13082223

By:

Chatzi, Despoina;
Kyriakoudi, Stella Aikaterini;
Dermitzakis, Iasonas;
Manthou, Maria Eleni;
Meditskou, Soultana;
Theotokis, Paschalis

Publication type:

Article

Distinct Immunophenotypic Features in Patients Affected by 22q11.2 Deletion Syndrome with Immune Dysregulation and Infectious Phenotype.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 24, p. 7579, doi. 10.3390/jcm12247579

By:

Costagliola, Giorgio;
Legitimo, Annalisa;
Bertini, Veronica;
Alberio, Antonino Maria Quintilio;
Valetto, Angelo;
Consolini, Rita

Publication type:

Article

Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 7, p. 2025, doi. 10.3390/jcm11072025

By:

Alberio, Antonino Maria Quintilio;
Legitimo, Annalisa;
Bertini, Veronica;
Baroncelli, Giampiero I.;
Costagliola, Giorgio;
Valetto, Angelo;
Consolini, Rita

Publication type:

Article

22q11.2 Deletion Syndrome as a Human Model for Idiopathic Scoliosis.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 4823, doi. 10.3390/jcm10214823

By:

de Reuver, Steven;
Homans, Jelle F.;
Schlösser, Tom P. C.;
Houben, Michiel L.;
Deeney, Vincent F. X.;
Crowley, Terrence B.;
Stücker, Ralf;
Pasha, Saba;
Kruyt, Moyo C.;
McDonald-McGinn, Donna M.;
Castelein, René M.

Publication type:

Article

Infectious Esophagitis in Romanian Children: From Etiology and Risk Factors to Clinical Characteristics and Endoscopic Features.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 4, p. 939, doi. 10.3390/jcm9040939

By:

Bordea, Mădălina Adriana;
Pîrvan, Alexandru;
Gheban, Dan;
Silaghi, Ciprian;
Lupan, Iulia;
Samașca, Gabriel;
Pepelea, Lia;
Junie, Lia Monica;
Costache, Carmen

Publication type:

Article

Longitudinal study of cerebral surface morphology in youth with 22q11.2 deletion syndrome, and association with positive symptoms of psychosis.

Published in:

Journal of Child Psychology & Psychiatry, 2017, v. 58, n. 3, p. 305, doi. 10.1111/jcpp.12657

By:

Radoeva, Petya D.;
Bansal, Ravi;
Antshel, Kevin M.;
Fremont, Wanda;
Peterson, Bradley S.;
Kates, Wendy R.

Publication type:

Article

Integrating TREC/KREC assay and cytokines in the evaluation of the immune status of patients with DiGeorge syndrome.

Published in:

New Zealand Journal of Medical Laboratory Science, 2025, v. 79, n. 1, p. 17

By:

Abo-Shanab, Assem M.;
Raoul, Haiam Abdel;
Fayez, Alaaeldin G.;
Helwa, Iman;
Ashaat, Engy A.;
Kholoussi, Naglaa;
Esmaiel, Nora N.;
Mahmoud Abdelkawy, Rania Fawzy

Publication type:

Article

IN THIS ISSUE.

Published in:

New Zealand Journal of Medical Laboratory Science, 2025, v. 79, n. 1, p. 2

By:

Cambridge, Lisa

Publication type:

Article

Gene Deletion and Sleep Depletion: Exploring the Relationship Between Sleep and Affect in 22q11.2 Deletion Syndrome.

Published in:

Journal of Genetic Psychology, 2021, v. 182, n. 5, p. 304, doi. 10.1080/00221325.2021.1930995

By:

Hyde, Justyn;
Eidels, Ami;
van Amelsvoort, Therese;
Myin-Germeys, Inez;
Campbell, Linda

Publication type:

Article

Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome.

Published in:

Genetics Research, 2024, v. 2024, p. 1, doi. 10.1155/2024/5549592

By:

Nunes, Natalia;
Carvalho Nunes, Beatriz;
Zamariolli, Malú;
Cordeiro de Queiroz Soares, Diogo;
Caires dos Santos, Leonardo;
Gollo Dantas, Anelisa;
Ayres Meloni, Vera;
Iole Belangero, Sintia;
Gil-Da-Silva-Lopes, Vera Lúcia;
Ae Kim, Chong;
Melaragno, Maria Isabel

Publication type:

Article

Pediatric Acute Care Decision Implications of Genetically Discoverable Mental Disorders.

Published in:

American Journal of Bioethics, 2017, v. 17, n. 4, p. 32, doi. 10.1080/15265161.2017.1284926

By:

Char, Danton

Publication type:

Article

Editorial: Tales from across the psychosis spectrum: understanding differences and similarities in mechanisms and experiences.

Published in:

Frontiers in Psychiatry, 2024, p. 1, doi. 10.3389/fpsyt.2024.1513000

By:

Palmer-Cooper, Emma Claire;
Ellett, Lyn;
Benrimoh, David

Publication type:

Article

Analyses of thymocyte commitment to regulatory T cell lineage in thymus of healthy subjects and patients with 22q11.2 deletion syndrome.

Published in:

Frontiers in Immunology, 2023, v. 14, p. 1, doi. 10.3389/fimmu.2023.1088059

By:

Borna, Simon;
Dejene, Beruh;
Lakshmanan, Uma;
Schulze, Janika;
Weinberg, Kenneth;
Bacchetta, Rosa

Publication type:

Article

Screening Method for 22q11 Deletion Syndrome Involving the Use of TaqMan qPCR for TBX1 in Patients with Conotruncal Congenital Heart Disease.

Published in:

Cardiogenetics, 2022, v. 12, n. 3, p. 253, doi. 10.3390/cardiogenetics12030024

By:

Campos-Garcia, Felix-Julian;
Castillo-Espinola, Addy-Manuela;
Medina-Escobedo, Carolina-Elizabeth;
Zenteno, Juan C.;
Lara-Riegos, Julio-Cesar;
Rubio-Zapata, Hector;
Cruz-Robles, David;
Velazquez-Ibarra, Ana-Isabel

Publication type:

Article

Sex and genes, part 2: A biopsychosocial approach to assess and treat challenging sexual behavior in persons with intellectual disabilities including fragile X syndrome and 22q11.2 deletion syndrome.

Published in:

2020

By:

Miodrag, Nancy;
Richards, Deborah A.;
Fedoroff, J. Paul;
Watson, Shelley L.

Publication type:

journal article

Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-54837-3

By:

Eom, Tae-Yeon;
Schmitt, J. Eric;
Li, Yiran;
Davenport, Christopher M.;
Steinberg, Jeffrey;
Bonnan, Audrey;
Alam, Shahinur;
Ryu, Young Sang;
Paul, Leena;
Hansen, Baranda S.;
Khairy, Khaled;
Pelletier, Stephane;
Pruett-Miller, Shondra M.;
Roalf, David R.;
Gur, Raquel E.;
Emanuel, Beverly S.;
McDonald-McGinn, Donna M.;
Smith, Jesse N.;
Li, Cai;
Christie, Jason M.

Publication type:

Article

METTL14 mediates m<sup>6</sup>a modification on osteogenic proliferation and differentiation of bone marrow mesenchymal stem cells by regulating the processing of pri-miR-873.

Published in:

Molecular Medicine Reports, 2023, v. 28, n. 3, p. N.PAG, doi. 10.3892/mmr.2023.13053

By:

Dong, Xin;
Liao, Bo;
Zhao, Jian;
Li, Xiaoxiang;
Yan, Kang;
Ren, Kun;
Zhang, Xiaoping;
Bao, Xiaoming;
Guo, Weidong

Publication type:

Article

Thymic Development, Inborn Errors of Immunity with Thymic Dysfunction and Thymic Transplantation.

Published in:

Asthma Allergy Immunology / Astim Allerji Immunoloji, 2023, v. 21, n. 2, p. 82, doi. 10.21911/aai.248

By:

ESENBOGA, Saliha

Publication type:

Article

A Father and Son Diagnosed with DiGeorge Syndrome.

Published in:

Asthma Allergy Immunology / Astim Allerji Immunoloji, 2023, v. 21, n. 1, p. 59, doi. 10.21911/aai.044

By:

OZER, Murat;
AYTEKIN, Caner

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

Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature.

Published in:

Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00546-1

By:

Shao, Qiao-Yan;
Wu, Pei-Lin;
Lin, Bi-Yun;
Chen, Sen-Jing;
Liu, Jian;
Chen, Su-Qing

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

Síndrome de DiGeorge. Tratamiento anestésico.

Published in:

Revista Mexicana de Anestesiología, 2011, v. 34, n. 4, p. 309

By:

Bellas, Soledad;
Marín, Felisa;
Sepúlveda, Ana

Publication type:

Article

A case report of 22q11 deletion syndrome confirmed by array-CGH method.

Published in:

Journal of Research in Medical Sciences, 2012, v. 17, n. 3, p. 310

By:

Sedghi, Maryam;
Nouri, Narges;
Abdali, Hossein;
Memarzadeh, Mehrdad;
Nouri, Nayereh

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

A case-control study of bleeding risk in children with 22q11.2 deletion syndrome undergoing cardiac surgery.

Published in:

Platelets, 2024, v. 35, n. 1, p. 1, doi. 10.1080/09537104.2023.2290108

By:

Crowley, T. Blaine;
Campbell, Ian;
Arulselvan, Abinaya;
Friedman, David;
Zackai, Elaine H.;
Geoffrion, Tracy R.;
Witmer, Char;
Gaynor, J. William;
McDonald-McGinn, Donna M.;
Lambert, Michele P.

Publication type:

Article

Refractory immune thrombocytopenia successfully treated with bortezomib in a child with 22q11.2 deletion syndrome, complicated by Evans syndrome and hypogammaglobulinemia.

Published in:

2022

By:

Conti, Francesca;
Gottardi, Francesca;
Moratti, Mattia;
Belotti, Tamara;
Ferrari, Simona;
Selva, Paola;
Bassi, Mirna;
Zama, Daniele;
Pession, Andrea

Publication type:

Case Study

Suicidal Risk Behaviors in Adolescents With Rare Neurodevelopmental Disorders: The Role of Sex, Autistic Traits, and Mental Health Difficulties.

Published in:

Journal of Pediatric Psychology, 2023, v. 48, n. 10, p. 852, doi. 10.1093/jpepsy/jsad051

By:

Orm, Stian;
Wood, Jeffrey;
Corbett, Blythe;
Fjermestad, Krister

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

Recognition of facial emotion expressions and perceptual processes in 22q11.2 deletion syndrome.

Published in:

Early Intervention in Psychiatry, 2023, v. 17, n. 1, p. 76, doi. 10.1111/eip.13295

By:

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

Publication type:

Article

Prostaglandin E1 overdose in a term neonate with congenital heart disease.

Published in:

2019

By:

Gorodetsky, Rachel M.;
Toole, Bethany M.;
Schult, Rachel F.;
Wiegand, Timothy J.

Publication type:

Case Study

Velocardiofacial Syndrome and Early Intervention.

Published in:

Contemporary Issues in Communication Science & Disorders, 2012, v. 39, p. 21, doi. 10.1044/cicsd_39_s_21

By:

Fullman, Leah I.;
Boyer, Valerie E.

Publication type:

Article

Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case–control study.

Published in:

Epilepsia (Series 4), 2025, v. 66, n. 3, p. 859, doi. 10.1111/epi.18220

By:

Cerulli Irelli, Emanuele;
Fanella, Martina;
Chaumette, Boris;
Putotto, Carolina;
Mignot, Cyril;
Mazzeo, Adolfo;
Lemke, Johannes R.;
Riva, Antonella;
Accinni, Tommaso;
Louveau, Cecile;
Giovannetti, Agnese;
Pugnaloni, Flaminia;
Gavaret, Martine;
Di Fabio, Fabio;
Fortunato, Francesco;
Dorn, Thomas;
Ferlazzo, Edoardo;
Gambardella, Antonio;
Ramantani, Georgia;
Orlando, Biagio

Publication type:

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

Absent Aortic Valve in DiGeorge Syndrome.

Published in:

Pediatric & Developmental Pathology, 2016, v. 19, n. 1, p. 61, doi. 10.2350/15-03-1616-CR.1

By:

BERTSCH, ELIZABETH C.;
MINTURN, LUCY;
GOTTEINER, NINA L.;
ERNST, LINDA M.

Publication type:

Article

An essential microRNA maturing microprocessor complex component DGCR8 is up-regulated in colorectal carcinomas.

Published in:

Clinical & Experimental Medicine, 2014, v. 14, n. 3, p. 331, doi. 10.1007/s10238-013-0243-8

By:

Kim, Bora;
Lee, Jae-ho;
Park, Jong;
Kwon, Taeg;
Baek, Seong;
Hwang, Ilseon;
Kim, Shin

Publication type:

Article