Works matching Digeorge syndrome

Results: 997

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

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 Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome.

Published in:

Case Reports in Neurology, 2020, v. 12, n. 2, p. 165, doi. 10.1159/000507954

By:

Dhoot, Roshni;
Payne, Katelyn;
Fink, John K.;
Pascuzzi, Robert M.

Publication type:

Article

Anaesthesia concerns and perioperative management in a child with DiGeorge syndrome with corrected tetralogy of Fallot with pulmonary atresia posted for laparoscopic orchidopexy: Case report.

Published in:

Indian Journal of Anaesthesia, 2020, v. 60, n. 4, p. 322, doi. 10.4103/ija.IJA_770_19

By:

Kale, Natasha;
Katkade, Sandip;
Mehta, Hemant;
Krishnanaik, Shivaprakash

Publication type:

Article

WYBRANE FORMY TERAPII DZIECKA Z ZESPOŁEM DIGEORGE'A. STUDIUM PRZYPADKU.

Published in:

Journal of Modern Science, 2025, v. 61, n. 1, p. 504, doi. 10.13166/jms/202618

By:

OSĘKOWSKA, EDYTA;
MALIK, NATALIA;
DĄBEK, MALWINA;
SKALNY, MAGDALENA

Publication type:

Article

Title of presented paper: Tetralogy of Fallot with DiGeorge syndrome.

Published in:

European Journal of Clinical & Experimental Medicine, 2023, p. 42

By:

Nyankovska, Yana;
Gunia, Katarzyna

Publication type:

Article

Psychiatric Comorbidities in Adults with DiGeorge Syndrome.

Published in:

Clinical Psychopharmacology & Neuroscience, 2022, v. 20, n. 3, p. 498, doi. 10.9758/cpn.2022.20.3.498

By:

Patel, Hiren;
Vadukapuram, Ramu;
Mansuri, Zeeshan;
Trivedi, Chintan;
Brar, Kanwarjeet Singh;
Beg, Uzma;
Patel, Jigar;
Ibrahim, Aalamgeer;
Zafar, Muhammad Khalid

Publication type:

Article

Various Psychiatric Manifestation in DiGeorge Syndrome (22q11.2 Deletion Syndrome): A Case Report.

Published in:

Clinical Psychopharmacology & Neuroscience, 2020, v. 18, n. 3, p. 458, doi. 10.9758/cpn.2020.18.3.458

By:

Giok Kim;
Eunsoo Moon;
Je Min Park;
Byung Dae Lee;
Young Min Lee;
Hee Jeong Jeong;
Soo Yeon Kim;
Kangyoon Lee;
Hwagyu Suh

Publication type:

Article

Subglottic stenosis as an early presentation of DiGeorge Syndrome.

Published in:

2023

By:

Kaminska, Alicja Aleksandra;
Kwiatkowska, Natalia;
Adamczyk, Paulina;
Szydłowski, Jarosław

Publication type:

Case Study

Humoral Immunodeficiency and Immune Globulin Replacement Therapy (IGRT) Usage in DiGeorge Syndrome.

Published in:

Journal of Clinical Immunology, 2021, v. 41, n. 6, p. 1208, doi. 10.1007/s10875-021-01012-8

By:

Soshnick, Sara H.;
Joseph, Tuhina;
Bennett, Nicholas J.

Publication type:

Article

Relationship Between Severity of T Cell Lymphopenia and Immune Dysregulation in Patients with DiGeorge Syndrome (22q11.2 Deletions and/or Related TBX1 Mutations): a USIDNET Study.

Published in:

Journal of Clinical Immunology, 2021, v. 41, n. 1, p. 29, doi. 10.1007/s10875-020-00854-y

By:

Deshpande, Deepti R.;
Demirdag, Yesim Y.;
Marsh, Rebecca A.;
Sullivan, Kathleen E.;
Orange, Jordan S.

Publication type:

Article

Disseminated Mycobacterium kansasii Disease in Complete DiGeorge Syndrome.

Published in:

Journal of Clinical Immunology, 2015, v. 35, n. 5, p. 435, doi. 10.1007/s10875-015-0171-3

By:

Yin, Suellen;
Ferdman, Ronald;
Wang, Larry;
Markert, M.;
Tam, Jonathan

Publication type:

Article

Understanding the Educational Impact for Children with DiGeorge Syndrome: A Brief Overview.

Published in:

Dialog: Journal of the Texas Educational Diagnosticians Association, 2018, v. 47, n. 1, p. 7

By:

Hoa Le, Ann

Publication type:

Article

Drug-induced parkinsonism in a patient with DiGeorge syndrome: a case report.

Published in:

Frontiers in Neuroscience, 2024, p. 1, doi. 10.3389/fnins.2024.1483587

By:

Cerejo, Clancy;
De Cleene, Nicolas;
Walser, Gerald;
Djamshidian, Atbin;
Seppi, Klaus;
Heim, Beatrice

Publication type:

Article

Improvement in neurocognitive manifestations with short-term multidisciplinary intervention in DiGeorge syndrome.

Published in:

Indian Pediatrics, 2016, v. 53, n. 9, p. 835, doi. 10.1007/s13312-016-0942-9

By:

Dalwai, Samir;
Desa, Elyska;
Modak, Deepti;
Bondre, Ameya

Publication type:

Article

Treatment of velopharingeal insufficiency with turn over mucoperiosteal palatal flap in a patient with DiGeorge syndrome.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2021, v. 78, n. 12, p. 1355, doi. 10.2298/VSP210202047K

By:

Kozarski, Jefta;
Veselinović, Mila;
Djorović, Lazar;
Mitrić, Biljana;
Kozarski, Ksenija

Publication type:

Article

Late diagnosed DiGeorge syndrome in a 44-year-old female: a rare cause for recurrent syncopes in adulthood—a case report.

Published in:

2021

By:

Isgandarova, Khuraman;
Molatta, Stephan;
Sommer, Philipp

Publication type:

Case Study

Late diagnosis of DiGeorge syndrome in a 13-year-old male with subclinical course of the disease - case report and literature review.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2023, v. 29, n. 4, p. 259, doi. 10.5114/pedm.2023.132030

By:

Wylazłowska, Aleksandra Janina;
Grabarczyk, Małgorzata;
Gorczyca, Marta;
Matusik, Paweł

Publication type:

Article

Digeorge Syndrome - Chromosome 22q1l Deletion Syndrome: An Update and Review.

Published in:

International Journal of Nursing Education, 2019, v. 11, n. 1, p. 30, doi. 10.5958/0974-9357.2019.00008.4

By:

Singh, Anushi;
Kumari, Rekha

Publication type:

Article

Síndrome de DiGeorge con deleción 22q11.2 en un paciente de etnia Rarámuri.

Published in:

Revista Alergia de Mexico, 2024, v. 71, n. 4, p. 260, doi. 10.29262/ram.v71i4.1399

By:

Alelí Casillas-Ituarte, Aleida;
Elvira Peña-Varela, Claudia;
Antonio Yamazaki-Nakashimada, Marco;
Berenise Gámez-González, Luisa

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

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

De novo start‐loss variant in HIRA in patient with DiGeorge‐like syndrome.

Published in:

Clinical Genetics, 2024, v. 105, n. 6, p. 683, doi. 10.1111/cge.14521

By:

Maslennikov, Dmitry;
Tolmacheva, Ekaterina;
Shubina, Jekaterina;
Vasiliev, Grigory;
Rogacheva, Margarita;
Svirepova, Ksenia;
Trofimov, Dmitry

Publication type:

Article

Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort.

Published in:

Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-025-01884-0

By:

Süleyman, Merve;
Cagdas, Deniz;
Kiper, Pelin Özlem Şimşek;
Ütine, Gülen Eda;
Çavdar, Merve Kaşıkcı;
Tezcan, Feyzi İlhan

Publication type:

Article

Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.

Published in:

Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-023-01607-3

By:

Patel, Priya K.;
Chinga, Michell Lozano;
Yilmaz, Melis;
Joychan, Sonia;
Ujhazi, Boglarka;
Ellison, Maryssa;
Gordon, Sumai;
Nieves, Daime;
Csomos, Krisztian;
Eslin, Don;
Afify, Zeinab A.;
Meznarich, Jessica;
Bohnsack, John;
Walkovich, Kelly;
Seidel, Markus G.;
Sharapova, Svetlana;
Boyarchyk, Oksana;
Latysheva, Elena;
Tuzankina, Irina;
Shaker, Ahmad B.

Publication type:

Article

"FISHed" out the diagnosis: A case of DiGeorge syndrome.

Published in:

2016

By:

Bajaj, S.;
Thombare, T. S.;
Tullu, M. S.;
Agrawal, M.

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

Safety of Live Immunization in DiGeorge Syndrome: A Retrospective Single-Center Study in Korea, 2005–2021.

Published in:

Vaccines, 2022, v. 10, n. 12, p. 2165, doi. 10.3390/vaccines10122165

By:

Lim, Sung Min;
Shin, Je Hee;
Baek, Jee Yeon;
Lee, Ji Young;
Kang, Ji-Man;
Ahn, Jong Gyun

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

DiGeorge Syndrome Associated with Azoospermia: First case in the literature.

Published in:

Turkish Journal of Urology, 2017, v. 43, n. 3, p. 390, doi. 10.5152/tud.2017.08555

By:

Özcan, Ayşegül;
Şahin, Yavuz

Publication type:

Article

Use of Array Comparative Genomic Hybridization for the Diagnosis of DiGeorge Syndrome in Saudi Arabian Population.

Published in:

Cytogenetic & Genome Research, 2018, v. 154, n. 1, p. 20, doi. 10.1159/000487094

By:

Bahamat, Abeer A.;
Assidi, Mourad;
Lary, Sahira A.;
Almughamsi, Muna M.;
Peer Zada, Abdul A.;
Chaudhary, Adeel;
Abuzenadah, Adel;
Abu-Elmagd, Muhammad;
Al-Qahtani, Mohammed

Publication type:

Article

Taiwanese Clinical Experience with Noninvasive Prenatal Testing for DiGeorge Syndrome.

Published in:

Fetal Diagnosis & Therapy, 2021, v. 48, n. 9, p. 672, doi. 10.1159/000519057

By:

Lin, Tzu-Yi;
Hsieh, T'sang-T'ang;
Cheng, Po-Jen;
Hung, Tai-Ho;
Chan, Kok-Seong;
Tsai, Chris;
Shaw, Steven W.

Publication type:

Article

CD45RA+ Depleted Lymphocyte Infusion for Treatment of Refractory Cytomegalovirus Disease in Complete DiGeorge Syndrome: A Case Report.

Published in:

2023

By:

HyungJin Chin;
Young Hye Ryu;
Da Yun Kang;
Hyun Jin Park;
Kyung Taek Hong;
Jung Yoon Choi;
Ki Wook Yun;
Bongjin Lee;
Hyoung Jin Kang;
Eun Hwa Choi

Publication type:

Case Study

DiGeorge Syndrome: Simultaneously Diagnosis of A Mother-Baby Pair With Great Clinical Variability.

Published in:

Gazi Medical Journal, 2022, v. 33, n. 2, p. 179, doi. 10.12996/gmj.2022.40

By:

Dokuzboy, Refika Sirma;
Sarı, Fatma Nur;
Beşer, Esra;
Ayvaz, Deniz Çağdaş;
Dizdar, Evrim Alyamaç

Publication type:

Article

DiGeorge syndrome critical region gene 2 (DGCR2), a schizophrenia risk gene, regulates dendritic spine development through cell adhesion.

Published in:

Cell & Bioscience, 2023, v. 13, n. 1, p. 1, doi. 10.1186/s13578-023-01081-9

By:

Ren, Dongyan;
Luo, Bin;
Chen, Peng;
Yu, Lulu;
Xiong, Mingtao;
Fu, Zhiqiang;
Zhou, Tian;
Chen, Wen-Bing;
Fei, Erkang

Publication type:

Article

The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 267, doi. 10.2147/TACG.S280066

By:

Candelo, Estephania;
Estrada-Mesa, Maria Alejandra;
Jaramillo, Adriana;
Martinez-Cajas, Carlos Humberto;
Osorio, Julio Cesar;
Pachajoa, Harry

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

Glomerulonephritis and nephrotic syndrome in a child with DiGeorge syndrome: Answers.

Published in:

Pediatric Nephrology, 2019, v. 34, n. 10, p. 1735, doi. 10.1007/s00467-019-04243-5

By:

Arkush, Leo;
Megged, Orli;
Nitzan, Itamar;
Yaakobi-Simhayoff, Nurit;
Feinstein, Sofia;
Tzvi-Behr, Shimrit

Publication type:

Article

Glomerulonephritis and nephrotic syndrome in a child with DiGeorge syndrome: Questions.

Published in:

Pediatric Nephrology, 2019, v. 34, n. 10, p. 1733, doi. 10.1007/s00467-019-04242-6

By:

Arkush, Leo;
Megged, Orli;
Nitzan, Itamar;
Yaakobi-Simhayoff, Nurit;
Feinstein, Sofia;
Tzvi-Behr, Shimrit

Publication type:

Article

Schizo-obsessive presentation in a young girl with DiGeorge syndrome.

Published in:

Journal of Indian Association for Child & Adolescent Mental Health, 2020, v. 16, n. 3, p. 162, doi. 10.1177/0973134220200309

By:

C., Ashvin;
Dutta, Bikram K.;
Seshadri, Shekhar P.

Publication type:

Article

Autoimmune hemolytic anemia associated with vitamin B12 deficiency and viral illness in DiGeorge syndrome. Case report and literature review.

Published in:

Clinical Case Reports, 2021, v. 9, n. 6, p. 1, doi. 10.1002/ccr3.4308

By:

Yousaf, Zohaib;
Ata, Fateen;
Iqbal, Phool;
Muthanna, Bassam;
Khan, Adeel Ahmad;
Akram, Jaweria

Publication type:

Article

Craniofacial Phenotypes and Genetics of DiGeorge Syndrome.

Published in:

Journal of Developmental Biology, 2022, v. 10, n. 2, p. 18, doi. 10.3390/jdb10020018

By:

Funato, Noriko

Publication type:

Article

Cardiac aspects of DiGeorge syndrome: a report of two cases with molecular analysis.

Published in:

2014

By:

Mesihoviæ Dinareviæ, Senka;
Vukas, Emina

Publication type:

Case Study

Post-childhood Presentation and Diagnosis of DiGeorge Syndrome.

Published in:

Clinical Pediatrics, 2016, v. 55, n. 4, p. 368, doi. 10.1177/0009922815591090

By:

Friedman, Nir;
Rienstein, Shlomit;
Yeshayahu, Yonatan;
Gothelf, Doron;
Somech, Raz

Publication type:

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

P70Cardiomyocytes derived from induced pluripotent stem cells of patient with DiGeorge syndrome show slower beating frequency and higher irregularity.

Published in:

2018

By:

Berecz, T;
Molnar, A;
Haltrich, I;
Homolya, L;
Harding, S;
Rethelyi, J;
Merkely, B;
Foldes, G;
Apati, A

Publication type:

Abstract

Clinical and immunophenotypic features of atypical complete DiGeorge syndrome.

Published in:

Pediatrics International, 2013, v. 55, n. 1, p. 2, doi. 10.1111/j.1442-200X.2012.03722.x

By:

Vu, Quang Van;
Wada, Taizo;
Toma, Tomoko;
Tajima, Hanako;
Maeda, Miho;
Tanaka, Risa;
Oh‐ishi, Tsutomu;
Yachie, Akihiro

Publication type:

Article

Rare health conditions 17: DiGeorge syndrome (22q11 deletion), Stevens-Johnson syndrome, cystinosis.

Published in:

British Journal of Healthcare Assistants, 2018, v. 12, n. 10, p. 486, doi. 10.12968/bjha.2018.12.10.486

By:

Barber, Chris

Publication type:

Article

Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports.

Published in:

Case Reports in Pediatrics, 2016, p. 1, doi. 10.1155/2016/8013530

By:

Yasuda, Kazushi;
Morihana, Eiji;
Fusazaki, Naoki;
Ishikawa, Shiro

Publication type:

Article

Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?

Published in:

2015

By:

Laccetta, Gianluigi;
Toschi, Benedetta;
Fogli, Antonella;
Bertini, Veronica;
Valetto, Angelo;
Consolini, Rita

Publication type:

Case Study