Works matching DE "DIGEORGE syndrome"

Results: 496

An antisense oligonucleotide-based strategy to ameliorate cognitive dysfunction in the 22q11.2 Deletion Syndrome.

Published in:

eLife, 2025, p. 1, doi. 10.7554/eLife.103328

By:

Thakur, Pratibha;
Lackinger, Martin;
Diamantopoulou, Anastasia;
Rao, Sneha;
Yijing Chen;
Khalizova, Khakima;
Ferng, Annie;
Mazur, Curt;
Kordasiewicz, Holly;
Shprintzen, Robert J.;
Markx, Sander;
Bin Xu;
Gogos, Joseph A.

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

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

The impact of 22q11.2 deletion syndrome on caregivers: assessing quality of life and burden.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03790-5

By:

Walkowiak, Dariusz;
Domaradzki, Jan

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

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

A Rare Etiology of Hypocalcemic Seizures in Adulthood: Clues to Diagnosis from Facial Dysmorphism.

Published in:

2021

By:

Batra, Nisha;
Kant, Ravi;
Mandal, Kausik;
Joshi, Kriti

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

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

The Future of Pediatric Care: AI and ML as Catalysts for Change in Genetic Syndrome Management.

Published in:

Jordan Medical Journal, 2024, v. 58, n. 4, p. 510, doi. 10.35516/jmj.v58i4.2787

By:

Ghunaim, Lama;
S. A., Ahmed;
Agha, Ali;
Aburjai, Talal

Publication type:

Article

lncRNA DGCR5 inhibits the proliferation of colorectal cancer cells by downregulating miR-21.

Published in:

Oncology Letters, 2019, v. 18, n. 3, p. 3331, doi. 10.3892/ol.2019.10671

By:

Huang, Hansheng;
Yang, Xiaomei;
Chen, Jun;
Fu, Junmin;
Chen, Chaoting;
Wen, Jianmei;
Mo, Qiao

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

The Co-Occurrence of 22q11.2 Deletion Syndrome and Epithelial Basement Membrane Dystrophy: A Case Report and Review of the Literature.

Published in:

Life (2075-1729), 2024, v. 14, n. 8, p. 1006, doi. 10.3390/life14081006

By:

Armentano, Marta;
Alisi, Ludovico;
Giovannetti, Francesca;
Iannucci, Valeria;
Lucchino, Luca;
Bruscolini, Alice;
Lambiase, Alessandro

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

Fever and Renal Failure in a Child With DiGeorge Syndrome and Tetralogy of Fallot.

Published in:

2015

By:

Itoh, Megumi;
Kann, Dylan C.;
Schwenk, Hayden T.;
Gans, Hayley A.

Publication type:

Case Study

Endocarditis Due to Cardiobacterium hominis in a 4-Year-Old Boy, Complicated by Right Lower Lobe Pulmonary Artery Mycotic Aneurysm.

Published in:

2013

By:

Groner, Abraham;
Kowalsky, Shanna;
Arnon, Rica;
Tosi, Michael F.

Publication type:

Case Study

SPEECH AND LANGUAGE ABILITIES OF CHILDREN WITH THE FAMILIAL FORM OF 22Q11.2 DELETION SYNDROME.

Published in:

Genetika (0534-0012), 2016, v. 48, n. 1, p. 57, doi. 10.2298/GENSR1601057R

By:

RAKONJAC, Marijana;
CUTURILO, Goran;
STEVANOVIC, Milena;
JOVANOVIC, Ida;
JELICIC DOBRIJEVIC, Ljiljana;
MIJOVIC, Marija;
DRAKULIC, Danijela

Publication type:

Article

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

Presenting phenotype in 100 children with the 22q11 deletion syndrome.

Published in:

2005

By:

Oskarsdóttir, Sólveig;
Persson, Christina;
Eriksson, Bengt O;
Fasth, Anders

Publication type:

journal article

Autoimmune hyperthyroidism in two adolescents with DiGeorge/velocardiofacial syndrome (22q11 deletion).

Published in:

2002

By:

Segni, Maria;
Zimmerman, Donald

Publication type:

Case Study

Ventricular septal defect and deletion of chromosome 22q11: anatomical types and aortic arch anomalies.

Published in:

2002

By:

Toscano, Alessandra;
Anaclerio, Silvia;
Digilio, Maria Cristina;
Giannotti, Aldo;
Fariello, Giuseppe;
Dallapiccola, Bruno;
Marino, Bruno

Publication type:

research

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

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

Published in:

2025

By:

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

Publication type:

Literature Review

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

22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.

Published in:

Genes, 2024, v. 15, n. 4, p. 518, doi. 10.3390/genes15040518

By:

de Wallau, Melissa Bittencourt;
Xavier, Ana Carolina;
Moreno, Carolina Araújo;
Kim, Chong Ae;
Mendes, Elaine Lustosa;
Ribeiro, Erlane Marques;
Oliveira, Amanda;
Félix, Têmis Maria;
Fett-Conte, Agnes Cristina;
Bonadia, Luciana Cardoso;
Correia-Costa, Gabriela Roldão;
Monlleó, Isabella Lopes;
Gil-da-Silva-Lopes, Vera Lúcia;
Vieira, Társis Paiva

Publication type:

Article

Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis.

Published in:

2024

By:

de Oliveira-Sobrinho, Ruy Pires;
Appenzeller, Simone;
Holanda, Ianne Pessoa;
Heleno, Júlia Lôndero;
Jorente, Josep;
Vieira, Társis Paiva;
Steiner, Carlos Eduardo

Publication type:

Case Study

Neuroanatomical Correlates of Cognitive Dysfunction in 22q11.2 Deletion Syndrome.

Published in:

Genes, 2024, v. 15, n. 4, p. 440, doi. 10.3390/genes15040440

By:

Smerconish, Simon;
Schmitt, James Eric

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

Clinical Risk Factors for Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome: A Longitudinal Single-Center Study.

Published in:

Genes, 2022, v. 13, n. 12, p. 2334, doi. 10.3390/genes13122334

By:

Putotto, Carolina;
Pulvirenti, Federica;
Pugnaloni, Flaminia;
Isufi, Ina;
Unolt, Marta;
Anaclerio, Silvia;
Caputo, Viviana;
Bernardini, Laura;
Messina, Elisa;
Moretti, Corrado;
Tarani, Luigi;
Marino, Bruno;
Versacci, Paolo

Publication type:

Article

Tonsillectomy in Children with 22q11.2 Deletion Syndrome.

Published in:

Genes, 2022, v. 13, n. 12, p. 2187, doi. 10.3390/genes13122187

By:

Arganbright, Jill M.;
Hankey, Paul Bryan;
Tracy, Meghan;
Narayanan, Srivats;
Noel-MacDonnell, Janelle;
Ingram, David

Publication type:

Article

Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11.2 Deletion Syndrome: Genotype–Phenotype Correlation.

Published in:

Genes, 2022, v. 13, n. 11, p. 2083, doi. 10.3390/genes13112083

By:

Gavril, Eva-Cristiana;
Popescu, Roxana;
Nucă, Irina;
Ciobanu, Cristian-Gabriel;
Butnariu, Lăcrămioara Ionela;
Rusu, Cristina;
Pânzaru, Monica-Cristina

Publication type:

Article

Adult Height, 22q11.2 Deletion Extent, and Short Stature in 22q11.2 Deletion Syndrome.

Published in:

Genes, 2022, v. 13, n. 11, p. 2038, doi. 10.3390/genes13112038

By:

Heung, Tracy;
Conroy, Brigid;
Malecki, Sarah;
Ha, Joanne;
Boot, Erik;
Corral, Maria;
Bassett, Anne S.

Publication type:

Article

Environmental Influences on the Relation between the 22q11.2 Deletion Syndrome and Mental Health: A Literature Review.

Published in:

Genes, 2022, v. 13, n. 11, p. 2003, doi. 10.3390/genes13112003

By:

Snihirova, Yelyzaveta;
Linden, David E. J.;
van Amelsvoort, Therese;
van der Meer, Dennis

Publication type:

Article

The Unique Experience of a New Multidisciplinary Program for 22q Deletion and Duplication Syndromes in a Community Hospital in Florida: A Reaffirmation That Multidisciplinary Care Is Essential for Best Outcomes in These Patients.

Published in:

Genes, 2022, v. 13, n. 11, p. 1949, doi. 10.3390/genes13111949

By:

Meneses, Zaimary;
Durant, Jenna;
Ale, Hanadys

Publication type:

Article

Partial Disturbance of Microprocessor Function in Human Stem Cells Carrying a Heterozygous Mutation in the DGCR8 Gene.

Published in:

Genes, 2022, v. 13, n. 11, p. 1925, doi. 10.3390/genes13111925

By:

Reé, Dóra;
Fóthi, Ábel;
Varga, Nóra;
Kolacsek, Orsolya;
Orbán, Tamás I.;
Apáti, Ágota

Publication type:

Article

Postoperative Hypocalcemia following Non-Cardiac Surgical Procedures in Children with 22q11.2 Deletion Syndrome †.

Published in:

Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101905

By:

Arganbright, Jill M.;
Tracy, Meghan;
Feldt, Max;
Narayanan, Srivats;
Mahadev, Ashna;
Noel-MacDonnell, Janelle

Publication type:

Article

Parent-Reported Social-Communicative Skills of Children with 22q11.2 Copy Number Variants and Siblings.

Published in:

Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101801

By:

Verbesselt, Jente;
Van Den Heuvel, Ellen;
Breckpot, Jeroen;
Zink, Inge;
Swillen, Ann

Publication type:

Article

Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome.

Published in:

Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101800

By:

McGinn, Daniel E.;
Crowley, T. Blaine;
Heung, Tracy;
Tran, Oanh;
Moss, Edward;
Zackai, Elaine H.;
Emanuel, Beverly S.;
Chow, Eva W. C.;
Morrow, Bernice E.;
Swillen, Ann;
Bassett, Anne S.;
McDonald-McGinn, Donna M.

Publication type:

Article

A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome.

Published in:

2022

By:

Pastor, Steven;
Tran, Oanh;
McGinn, Daniel E.;
Crowley, T. Blaine;
Zackai, Elaine H.;
McDonald-McGinn, Donna M.;
Emanuel, Beverly S.

Publication type:

Case Study

The Relationships between Dopaminergic, Glutamatergic, and Cognitive Functioning in 22q11.2 Deletion Syndrome: A Cross-Sectional, Multimodal 1 H-MRS and 18 F-Fallypride PET Study.

Published in:

Genes, 2022, v. 13, n. 9, p. 1672, doi. 10.3390/genes13091672

By:

van Hooijdonk, Carmen F. M.;
Tse, Desmond H. Y.;
Roosenschoon, Julia;
Ceccarini, Jenny;
Booij, Jan;
van Amelsvoort, Therese A. M. J.;
Vingerhoets, Claudia

Publication type:

Article