Works matching DE "DIGEORGE syndrome"

Results: 458

DGCR8 HITS-CLIP reveals novel functions for the Microprocessor.

Published in:

Nature Structural & Molecular Biology, 2012, v. 19, n. 8, p. 760, doi. 10.1038/nsmb.2344

By:

Macias, Sara;
Plass, Mireya;
Stajuda, Agata;
Michlewski, Gracjan;
Eyras, Eduardo;
Cáceres, Javier F

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

Correspondence to "Dichorionic Diamniotic Twin Pairs with Complex Congenital Heart Disease".

Published in:

Pediatric Cardiology, 2024, v. 45, n. 2, p. 454, doi. 10.1007/s00246-023-03368-7

By:

Mastromoro, Gioia;
Piacentini, Gerardo

Publication type:

Article

Ectopic Atrial Tachycardia in Infants Following Congenital Heart Disease Surgery.

Published in:

Pediatric Cardiology, 2023, v. 44, n. 2, p. 479, doi. 10.1007/s00246-022-03068-8

By:

Uniat, Jonathan;
Hill, Allison C.;
Shwayder, Mark;
Silka, Michael J.;
Bar-Cohen, Yaniv

Publication type:

Article

Comparison of Postoperative, In-Hospital Outcomes After Complete Repair of Tetralogy of Fallot Between 22q11.2 Deletion Syndrome and Trisomy 21.

Published in:

Pediatric Cardiology, 2022, v. 43, n. 2, p. 290, doi. 10.1007/s00246-021-02683-1

By:

Nissen, Timothy E.;
Zaniletti, Isabella;
Collins II, R. Thomas;
Greiten, Lawrence E.;
Prodhan, Parthak;
Seib, Paul M.;
Bolin, Elijah H.

Publication type:

Article

Hospital Survival After Surgical Repair of Truncus Arteriosus with Interrupted Aortic Arch: Results from a Multi-institutional Database.

Published in:

Pediatric Cardiology, 2021, v. 42, n. 5, p. 1058, doi. 10.1007/s00246-021-02582-5

By:

Jones, Brandon A.;
Conaway, Mark R.;
Spaeder, Michael C.;
Dean, Peter N.

Publication type:

Article

22q11.2 Deletion Status and Perioperative Outcomes for Tetralogy of Fallot with Pulmonary Atresia and Multiple Aortopulmonary Collateral Vessels.

Published in:

Pediatric Cardiology, 2018, v. 39, n. 5, p. 906, doi. 10.1007/s00246-018-1840-9

By:

Mercer-Rosa, Laura;
Elci, Okan U.;
Pinto, Nelangi M.;
Tanel, Ronn E.;
Goldmuntz, Elizabeth

Publication type:

Article

Isolated Left Ventricular Noncompaction in a Newborn With Pierre-Robin Sequence.

Published in:

2013

By:

Aypar, Ebru;
Sert, Ahmet;
Gokmen, Zeynel;
Aslan, Eyup;
Odabas, Dursun

Publication type:

Report

DGCR8 and the six hit, three-step model of schwannomatosis.

Published in:

Acta Neuropathologica, 2022, v. 143, n. 1, p. 115, doi. 10.1007/s00401-021-02387-z

By:

Nogué, Clara;
Chong, Anne-Sophie;
Grau, Elia;
Han, HyeRim;
Dorca, Eduard;
Roca, Carla;
Mosquera, Jose Luis;
Lázaro, Conxi;
Foulkes, William D.;
Brunet, Joan;
Rivera, Barbara

Publication type:

Article

Intellectual disability: dendritic anomalies and emerging genetic perspectives.

Published in:

Acta Neuropathologica, 2021, v. 141, n. 2, p. 139, doi. 10.1007/s00401-020-02244-5

By:

Quach, Tam T.;
Stratton, Harrison J.;
Khanna, Rajesh;
Kolattukudy, Pappachan E.;
Honnorat, Jérome;
Meyer, Kathrin;
Duchemin, Anne-Marie

Publication type:

Article

Prenatal-screening companies expand scope of DNA tests.

Published in:

Nature, 2014, v. 507, n. 7490, p. 19, doi. 10.1038/507019a

By:

Check Hayden, Erika

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

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

Investigation of DEL22 Frequency with Fluorescent In Situ Hybridization Method in Children with Conotruncal Heart Anomaly.

Published in:

European Journal of Therapeutics, 2022, v. 28, n. 3, p. 242, doi. 10.5152/EurJTher.2022.21014

By:

Özçelik, Sultan;
Başpınar, Osman;
Nacarkahya, Gülper

Publication type:

Article

22Q11.2 deletion syndrome and psychosis: About a case.

Published in:

European Psychiatry, 2021, v. 64, p. S628, doi. 10.1192/j.eurpsy.2021.1669

By:

García-Bernal, C.;
Neth, O.;
Veguilla, M. Ruiz;
Torres, N. Garrido

Publication type:

Article

The impact of social cognition deficits on real life functioning in 22q11.2 deletion syndrome: A comparative study with a large population of patients with schizophrenia.

Published in:

European Psychiatry, 2021, v. 64, p. S541, doi. 10.1192/j.eurpsy.2021.1445

By:

Accinni, T.;
Frascarelli, M.;
Buzzanca, A.;
Ghezzi, F.;
Carlone, L.;
Panzera, A.;
Moschillo, A.;
Girardi, N.;
Fabio, F. Di

Publication type:

Article

Digeorge Syndrome: Psychotic Risk and ERPS Correlates.

Published in:

European Psychiatry, 2015, v. 30, p. 885, doi. 10.1016/S0924-9338(15)30691-X

By:

Mirigliani, A.;
De Lucia, M.;
Mannarelli, C.;
Mannarelli, D.;
Locuratolo, N.;
Buzzanca, A.;
Squarcione, C.;
Torti, M.C.;
Di Fabio, F.;
Fattapposta, F.;
Biondi, M.

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

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

22q11.2 deletion syndrome complicated with pulmonary alveolar proteinosis in a child: a case report.

Published in:

European Review for Medical & Pharmacological Sciences, 2023, v. 27, n. 2, p. 687

By:

Y. ZHENG;
Y. LI;
G. -H. MAO;
H. -C. DAI;
G. -T. LI;
C. -L. YANG;
Y. ZHU

Publication type:

Article

LncRNA DGCR5 promotes non-small cell lung cancer progression via sponging miR-218-5p.

Published in:

European Review for Medical & Pharmacological Sciences, 2019, v. 23, n. 22, p. 9947

By:

WANG, J.;
SHU, H.-Z.;
XU, C.-Y.;
GUO, S.-G.

Publication type:

Article

Tetralogy of Fallot With Absent Pulmonary Valve Syndrome: The Experience of a Tertiary Care Center in a Developing Country.

Published in:

Echocardiography, 2024, v. 41, n. 10, p. 1, doi. 10.1111/echo.15942

By:

Farhat, Aziz;
Charanek, Sujud;
Zareef, Rana;
El‐Rassi, Issam;
Bitar, Fadi;
Arabi, Mariam

Publication type:

Article

Development of Speech and Communication in Polish Children with 22q11.2 Deletion Syndrome: A Cross-Sectional Study.

Published in:

Brain Sciences (2076-3425), 2025, v. 15, n. 1, p. 24, doi. 10.3390/brainsci15010024

By:

Moćko, Natalia;
Rudzki, Marcin;
Miodońska, Zuzanna;
Olesiak, Julia;
Jochymczyk-Woźniak, Katarzyna;
Kręcichwost, Michał

Publication type:

Article

Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes.

Published in:

Biomolecules (2218-273X), 2024, v. 14, n. 5, p. 569, doi. 10.3390/biom14050569

By:

McKay, Leo;
Petrelli, Berardino;
Pind, Molly;
Reynolds, James N.;
Wintle, Richard F.;
Chudley, Albert E.;
Drögemöller, Britt;
Fainsod, Abraham;
Scherer, Stephen W.;
Hanlon-Dearman, Ana;
Hicks, Geoffrey G.

Publication type:

Article

Histological Analysis of a Mouse Model of the 22q11.2 Microdeletion Syndrome.

Published in:

Biomolecules (2218-273X), 2023, v. 13, n. 5, p. 763, doi. 10.3390/biom13050763

By:

Tabata, Hidenori;
Mori, Daisuke;
Matsuki, Tohru;
Yoshizaki, Kaichi;
Asai, Masato;
Nakayama, Atsuo;
Ozaki, Norio;
Nagata, Koh-ichi

Publication type:

Article

Neurobehavioral risk factors influence prevalence and severity of hazardous substance use in youth at genetic and clinical high risk for psychosis.

Published in:

Frontiers in Psychiatry, 2023, p. 1, doi. 10.3389/fpsyt.2023.1143315

By:

Amir, Carolyn M.;
Kapler, Simon;
Hoftman, Gil D.;
Kushan, Leila;
Zinberg, Jamie;
Cadenhead, Kristin S.;
Kennedy, Leda;
Cornblatt, Barbara A.;
Keshavan, Matcheri;
Mathalon, Daniel H.;
Perkins, Diana O.;
Stone, William;
Tsuang, Ming T.;
Walker, Elaine F.;
Woods, Scott W.;
Cannon, Tyrone D.;
Addington, Jean;
Bearden, Carrie E.

Publication type:

Article

Effects of risperidone on psychotic symptoms and cognitive functions in 22q11.2 deletion syndrome: Results from a clinical trial.

Published in:

Frontiers in Psychiatry, 2022, v. 13, p. 01, doi. 10.3389/fpsyt.2022.972420

By:

Latrèche, Caren;
Maeder, Johanna;
Mancini, Valentina;
Schneider, Maude;
Eliez, Stephan

Publication type:

Article

Possible Commonalities of Clinical Manifestations Between Dystonia and Catatonia.

Published in:

Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.876678

By:

Ishizuka, Kanako;
Tachibana, Masako;
Inada, Toshiya

Publication type:

Article

Upregulation of DGCR8, a Candidate Predisposing to Schizophrenia in Han Chinese, Contributes to Phenotypic Deficits and Neuronal Migration Delay.

Published in:

Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.873873

By:

Bi, Yan;
Chen, Shiqing;
Shen, Qi;
Guo, Zhenming;
Ren, Decheng;
Yuan, Fan;
Niu, Weibo;
Ji, Lei;
Liu, Liangjie;
Han, Ke;
Yu, Tao;
Yang, Fengping;
Wu, Xi;
Wang, Lu;
Li, Xingwang;
Yu, Shunying;
Xu, Yifeng;
He, Lin;
Shi, Yi;
Zhang, Jing

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

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

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

Difficulties in cochlear implantation in children with Di George syndrome.

Published in:

Journal of Hearing Science, 2018, v. 8, n. 2, p. 319

By:

Porowski, M.;
Skarżyński, H.;
Mrowka, M.;
Skarżyński, P. H.;
Ratuszniak, A.

Publication type:

Article

Single-cell transcriptomics uncovers a non-autonomous Tbx1-dependent genetic program controlling cardiac neural crest cell development.

Published in:

Nature Communications, 2023, p. 1, doi. 10.1038/s41467-023-37015-9

By:

De Bono, Christopher;
Liu, Yang;
Ferrena, Alexander;
Valentine, Aneesa;
Zheng, Deyou;
Morrow, Bernice E.

Publication type:

Article

RELEVANCE OF DELETION BREAKPOINT SPECIFICATION IN 22q11.2 DELETION SYNDROME: CLINICAL MANAGEMENT OF THREE ILLUSTRATIVE PATIENTS.

Published in:

Clinical Neuropsychiatry, 2018, v. 15, n. 5, p. 306

By:

Verhoeven, Willem M. A.;
Egger, Jos I. M.;
De Leeuw, Nicole

Publication type:

Article

Anomalous Fusion of Right Pulmonary Artery to Aortic Arch: Case Report of a Rare and Fatal Congenital Malformation in a Newborn and a Literature Review.

Published in:

2018

By:

D'Ovidio, Cristian;
Decembrino, Lidia;
Stronati, Mauro;
Carnevale, Aldo;
Lattanzio, Rassano

Publication type:

Case Study

Delayed biventricular repair of interrupted aortic arch with left ventricular outflow tract obstruction in 22q11.2 deletion syndrome: a case report.

Published in:

2022

By:

Eynde, Jef Van den;
Palen, Roel L F van der;
Bökenkamp, Regina;
Hazekamp, Mark G

Publication type:

Case Study

22q11.2 Microduplication with Thyroid Hemiagenesis.

Published in:

2013

By:

Kim, Hae Jung;
Jo, Heui Seung;
Yoo, Eun-Gyong;
Chung, In Hyuk;
Kim, Sung Woo;
Lee, Kyu Hyung;
Chang, Yoon Hwan

Publication type:

Case Study

Kromozom 22q11.2 Delesyon Sendromunun Ender Bir Bulgusu: Multikistik Displastik Böbrek.

Published in:

Journal of the Child / Çocuk Dergisi, 2019, v. 19, n. 3, p. 163, doi. 10.5222/j.child.2019.76768

By:

Buğrul, Fuat;
Duymuş, Fahrettin

Publication type:

Article

Genetik Durum Varlığı ile Konjenital Kalp Hastalıkları Birlikteliği: Cerrahi Sonuçlar Nasıl Etkilenir?

Published in:

Journal of Harran University Medical Faculty / Harran Üniversitesi Tıp Fakültesi Dergisi, 2019, v. 16, n. 1, p. 63

By:

Yıldız, Okan;
Öztürk, Erkut;
Şen, Onur;
Haydin, Sertaç

Publication type:

Article

22q11.21 Deletions: A Review on the Interval Mediated by Low-Copy Repeats C and D.

Published in:

Genes, 2025, v. 16, n. 1, p. 72, doi. 10.3390/genes16010072

By:

Bertini, Veronica;
Cambi, Francesca;
Legitimo, Annalisa;
Costagliola, Giorgio;
Consolini, Rita;
Valetto, Angelo

Publication type:

Article

Mortality in Patients with 22q11.2 Rearrangements.

Published in:

Genes, 2024, v. 15, n. 9, p. 1146, doi. 10.3390/genes15091146

By:

Cilio Arroyuelo, Melisa;
Tenorio-Castano, Jair;
García-Moya, Luis Fernández;
Parra, Alejandro;
Cazalla, Mario;
Gallego, Natalia;
Miranda, Lucía;
Mori, María Ángeles;
García-Gueretta, Luis;
Labrandero, Carlos;
Mansilla, Elena;
Rikeros, Emi;
García-Santiago, Fe;
Vallcorba, Isabel;
Arias, Pedro;
Silván, Cristina;
Deiros Bronte, Lucia;
Nevado, Julián;
Lapunzina, Pablo

Publication type:

Article

Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables.

Published in:

Genes, 2024, v. 15, n. 5, p. 595, doi. 10.3390/genes15050595

By:

Pimenta, Larissa Salustiano Evangelista;
Mello, Claudia Berlim de;
Benedetto, Luciana Mello Di;
Soares, Diogo Cordeiro de Queiroz;
Kulikowski, Leslie Domenici;
Dantas, Anelisa Gollo;
Melaragno, Maria Isabel;
Kim, Chong Ae

Publication type:

Article

Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.

Published in:

Genes, 2024, v. 15, n. 3, p. 321, doi. 10.3390/genes15030321

By:

Cillo, Francesca;
Coppola, Emma;
Habetswallner, Federico;
Cecere, Francesco;
Pignata, Laura;
Toriello, Elisabetta;
De Rosa, Antonio;
Grilli, Laura;
Ammendola, Antonio;
Salerno, Paolo;
Romano, Roberta;
Cirillo, Emilia;
Merla, Giuseppe;
Riccio, Andrea;
Pignata, Claudio;
Giardino, Giuliana

Publication type:

Article

Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome.

Published in:

Genes, 2024, v. 15, n. 2, p. 211, doi. 10.3390/genes15020211

By:

Silveira, Henrique Garcia;
Steiner, Carlos Eduardo;
Toccoli, Giovana;
Angeloni, Luise Longo;
Heleno, Júlia Lôndero;
Spineli-Silva, Samira;
dos Santos, Ana Mondadori;
Vieira, Társis Paiva;
Melaragno, Maria Isabel;
Gil-da-Silva-Lopes, Vera Lúcia

Publication type:

Article

Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.

Published in:

Genes, 2023, v. 14, n. 3, p. 680, doi. 10.3390/genes14030680

By:

Smyk, Marta;
Geremek, Maciej;
Ziemkiewicz, Kamila;
Gambin, Tomasz;
Kutkowska-Kaźmierczak, Anna;
Kowalczyk, Katarzyna;
Plaskota, Izabela;
Wiśniowiecka-Kowalnik, Barbara;
Bartnik-Głaska, Magdalena;
Niemiec, Magdalena;
Grad, Dominika;
Piotrowicz, Małgorzata;
Gieruszczak-Białek, Dorota;
Pietrzyk, Aleksandra;
Crowley, T. Blaine;
Giunta, Victoria;
McGinn, Daniel E.;
Zackai, Elaine H.;
Tran, Oanh;
Emanuel, Beverly S.

Publication type:

Article

Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants.

Published in:

Genes, 2023, v. 14, n. 3, p. 679, doi. 10.3390/genes14030679

By:

Verbesselt, Jente;
Solot, Cynthia B.;
Van Den Heuvel, Ellen;
Crowley, T. Blaine;
Giunta, Victoria;
Breckpot, Jeroen;
McDonald-McGinn, Donna M.;
Zink, Inge;
Swillen, Ann

Publication type:

Article

Gathering the Stakeholder's Perspective: Experiences and Opportunities in Rare Genetic Disease Research.

Published in:

Genes, 2023, v. 14, n. 1, p. 169, doi. 10.3390/genes14010169

By:

White, Lauren K.;
Crowley, T. Blaine;
Finucane, Brenda;
McClellan, Emily J.;
Donoghue, Sarah;
Garcia-Minaur, Sixto;
Repetto, Gabriela M.;
Fischer, Matthias;
Jacquemont, Sebastien;
Gur, Raquel E.;
Maillard, Anne M.;
Donald, Kirsten A.;
Bassett, Anne S.;
Swillen, Ann;
McDonald-McGinn, Donna M.

Publication type:

Article

Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study.

Published in:

Genes, 2023, v. 14, n. 1, p. 62, doi. 10.3390/genes14010062

By:

Ron, Hayley A.;
Crowley, Terrence Blaine;
Liu, Yichuan;
Unolt, Marta;
Schindewolf, Erica;
Moldenhauer, Julie;
Rychik, Jack;
Goldmuntz, Elizabeth;
Emanuel, Beverly S.;
Ryba, Douglas;
Gaynor, James William;
Zackai, Elaine H.;
Hakonarson, Hakon;
McDonald-McGinn, Donna M.

Publication type:

Article