Works matching DiGeorge syndrome and genetics

Results: 65

Fish based preimplantation genetic diagnosis to prevent DiGeorge syndrome.

Published in:

2009

By:

Shefi, Shai;
Raviv, Gil;
Rienstein, Shlomit;
Barkai, Gad;
Aviram-Goldring, Ayala;
Levron, Jacob

Publication type:

Case Study

Is the genetic basis of DiGeorge syndrome in HAND?

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 246, doi. 10.1038/6750

By:

Baldini, Antonio

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

An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome.

Published in:

Scientific Reports, 2017, p. 40031, doi. 10.1038/srep40031

By:

Vergés, Laia;
Vidal, Francesca;
Geán, Esther;
Alemany-Schmidt, Alexandra;
Oliver-Bonet, Maria;
Blanco, Joan

Publication type:

Article

Preimplantation genetic diagnosis of DiGeorge syndrome.

Published in:

Molecular Human Reproduction, 1998, v. 4, n. 9, doi. 10.1093/molehr/4.9.871

By:

Iwarsson, E;
Iwarsson, E.;
Ahrlund-Richter, L;
Ahrlund-Richter, L.;
Inzunza, J;
Inzunza, J.;
Fridstrom, M;
Fridstrom, M.;
Rosenlund, B;
Rosenlund, B.;
Hillensjo, T;
Hillensjo, T.;
Sjoblom, P;
Sjoblom, P.;
Nordenskjold, M;
Nordenskjold, M.;
Blennow, E;
Blennow, E.

Publication type:

Article

DiGeorge syndrome: the use of model organisms to dissect complex genetics.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 20, p. 2363, doi. 10.1093/hmg/11.20.2363

By:

Baldini, Antonio

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

Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome).

Published in:

Current Allergy & Asthma Reports, 2018, v. 18, n. 12, p. 1, doi. 10.1007/s11882-018-0823-5

By:

Kuo, Caroline Y.;
Signer, Rebecca;
Saitta, Sulagna C.

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

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

Digeorge syndrome, schizophrenia, intellectual disability and borderline personality disorder: A case report.

Published in:

Clinical Medicine Insights: Psychiatry, 2023, v. 14, p. 1, doi. 10.1177/11795573231168518

By:

Khaleque, Afnan;
Bhandarkar, Ritesh

Publication type:

Article

Digeorge syndrome, schizophrenia, intellectual disability and borderline personality disorder: A case report.

Published in:

Clinical Medicine Insights: Psychiatry, 2023, p. 1, doi. 10.1177/11795573231168518

By:

Khaleque, Afnan;
Bhandarkar, Ritesh

Publication type:

Article

Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1).

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. -1, doi. 10.1038/ejhg.2010.5

By:

Schwinger, Eberhard;
Devriendt, Koen;
Rauch, Anita;
Philip, Nicole

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

Attentional functioning in individuals with 22q11 deletion syndrome: insight from ERPs.

Published in:

Journal of Neural Transmission, 2018, v. 125, n. 7, p. 1043, doi. 10.1007/s00702-018-1873-5

By:

Mannarelli, Daniela;
Pauletti, Caterina;
Accinni, Tommaso;
Carlone, Luca;
Frascarelli, Marianna;
Lattanzi, Guido Maria;
Currà, Antonio;
Fattapposta, Francesco

Publication type:

Article

Getting to the heart of DiGeorge syndrome.

Published in:

Nature Medicine, 1999, v. 5, n. 10, p. 1120, doi. 10.1038/13438

By:

Schinke, Martina;
Izumo, Seigo

Publication type:

Article

Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome.

Published in:

Nature Genetics, 2001, v. 27, n. 3, p. 293, doi. 10.1038/85855

By:

Guris, Deborah L.;
Fantes, Judith;
Tara, David;
Druker, Brian J.;
Imamoto, Akira

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

Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report.

Published in:

2021

By:

Dell'Edera, Domenico;
Allegretti, Arianna;
Ventura, Mario;
Mercuri, Ludovica;
Mitidieri, Angela;
Cuscianna, Giacinto;
Epifania, Annunziata Anna;
Morizio, Elisena;
Alfonsi, Melissa;
Guanciali-Franchi, Paolo

Publication type:

journal article

Genetic Counseling in Psychiatry: Preparing for Anticipated Demand.

Published in:

Psychiatric Times, 2006, v. 23, n. 14, p. 87

By:

Kaplan, Arline

Publication type:

Article

Genome-Wide Association Mapping and Identification of Candidate Genes for the Rumpless and Ear-tufted Traits of the Araucana Chicken.

Published in:

PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0040974

By:

Noorai, Rooksana E.;
Freese, Nowlan H.;
Wright, Lindsay M.;
Chapman, Susan C.;
Clark, Leigh Anne

Publication type:

Article

Factori de risc pentru pierderea auzului la nou-născut.

Published in:

ORL.ro, 2022, n. 57, p. 28

By:

Roșca, Ioana;
Constantin, Andreea Teodora;
Ardeleanu, Ioana Sonia;
Georgescu, Mădălina

Publication type:

Article

Abstract 3: Picking up DiGeorge syndrome in Hypoparathyroidism: A hit-and-miss "thumbing" diagnosis.

Published in:

Indian Journal of Endocrinology & Metabolism, 2022, v. 26, p. 1, doi. 10.4103/2230-8210.363715

By:

Rastogi, Prasoon;
Mittal, Madhukar;
Ganakumar, Vanishri;
Garg, M

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

Chromosomal Abnormalities Affect the Surgical Outcome in Infants with Hypoplastic Left Heart Syndrome: A Large Cohort Analysis.

Published in:

Pediatric Cardiology, 2018, v. 39, n. 1, p. 11, doi. 10.1007/s00246-017-1717-3

By:

Zakaria, Dala;
Tang, Xinyu;
Bhakta, Rupal;
ElHassan, Nahed O.;
Prodhan, Parthak

Publication type:

Article

Crossed Pulmonary Arteries: A Report on 20 Cases With an Emphasis on the Clinical Features and the Genetic and Cardiac Abnormalities.

Published in:

Pediatric Cardiology, 2013, v. 34, n. 8, p. 1785, doi. 10.1007/s00246-013-0714-4

By:

Babaoğlu, Kadir;
Altun, Gürkan;
Binnetoğlu, Köksal;
Dönmez, Muhammed;
Kayabey, Özlem;
Anık, Yonca

Publication type:

Article

Prenatal diagnosis of congenital heart defects: experience of the first Fetal Cardiology Unit in Mexico.

Published in:

2021

By:

Cruz-Lemini, Monica;
Nieto-Castro, Belen;
Luna-Garcia, Jonahtan;
Juarez-Martinez, Israel;
Martínez-Rivera, Magdalena;
Bermudez-Rojas, Ma de la Luz;
Rebolledo-Fernández, Carlos;
Cruz-Martinez, Rogelio

Publication type:

journal article

Temporal lobe pleomorphic xanthoastrocytoma and acquired BRAF mutation in an adolescent with the constitutional 22q11.2 deletion syndrome.

Published in:

2011

By:

Murray, Jeffrey;
Donahue, David;
Malik, Saleem;
Dzurik, Yvette;
Braly, Emily;
Dougherty, Margaret;
Eaton, Katherine;
Biegel, Jaclyn

Publication type:

Report

DiGeorge syndrome breakpoint.

Published in:: 1995
Publication type:: Book Review

Human genetics: An accomplice, by (Di)George!

Published in:

Nature Reviews Genetics, 2003, v. 4, n. 3, p. 167, doi. 10.1038/nrg1028

By:

Campbell, Nick

Publication type:

Article

HUMAN GENETICS: Genes at the heart of DiGeorge.

Published in:

Nature Reviews Genetics, 2001, v. 2, n. 4, p. 240, doi. 10.1038/35066027

By:

Alfred, Jane

Publication type:

Article

Parents' preferences for receiving and discussing prognostic genetic information regarding their children's neurodevelopmental condition: A qualitative study.

Published in:

Developmental Medicine & Child Neurology, 2024, v. 66, n. 7, p. 872, doi. 10.1111/dmcn.15830

By:

Turbitt, Erin;
Bourne, Meg;
McEwen, Alison;
Amor, David J.

Publication type:

Article

Complexity of a small non-protein coding sequence in chromosomal region 22q11.2: presence of specialized DNA secondary structures and RNA exon/intron motifs.

Published in:

BMC Genomics, 2015, v. 16, p. 1, doi. 10.1186/s12864-015-1958-6

By:

Delihas, Nicholas

Publication type:

Article

De novo Unbalanced 1;22 Translocation with 22q11 Deletion Syndrome.

Published in:

Cytogenetic & Genome Research, 2019, v. 157, n. 4, p. 32, doi. 10.1159/000497173

By:

Vittas, Spiros;
Efstathiou, George;
Tsakalidis, Christos;
Malamaki, Christina;
antari, Vasiliki;
Chatzitoliou, Efthymia;
Chatziioannidis, Ilias;
Galli-Tsinopoulou, assimina;
Soubasi, Vasiliki

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

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

Current and Future Therapeutic Approaches for Thymic Stromal Cell Defects.

Published in:

Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2021.655354

By:

Kreins, Alexandra Y.;
Bonfanti, Paola;
Davies, E. Graham

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

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

A 22q11.2-microdeletiós szindróma klinikai jellemzői.

Published in:

Hungarian Medical Journal / Orvosi Hetilap, 2022, v. 163, n. 1, p. 21, doi. 10.1556/650.2022.32299

By:

Szumutku, Fanni;
Kádár, Krisztina;
Kovács, Árpád Ferenc;
Lengyel, Anna;
Pinti, Éva;
Némethi, Zaránd;
Abonyi, Tünde;
Csáky-Szunyogh, Melinda;
Fekete, György;
Haltrich, Irén

Publication type:

Article

A Rare Case of Unilateral Congenital Asymmetric Crying Facies in a Neonate: Case Report.

Published in:

Indian Journal of Otolaryngology & Head & Neck Surgery, 2025, v. 77, n. 2, p. 1003, doi. 10.1007/s12070-024-05230-5

By:

Arora, Gautam Kumar;
Doloi, Pankaj Kumar

Publication type:

Article

DiGeorge syndrome.

Published in:

2018

By:

Kraus, Christoph;
Vanicek, Thomas;
Weidenauer, Ana;
Khanaqa, Tav;
Stamenkovic, Mara;
Lanzenberger, Rupert;
Willeit, Matthäus;
Kasper, Siegfried

Publication type:

Case Study

news and views in brief.

Published in:

Nature, 2004, v. 427, n. 6975, p. 599, doi. 10.1038/427599a

By:

Pearson, Helen;
Ball, Philip;
Hopkin, Michael;
Peplow, Mark;
Nelson, Laura

Publication type:

Article

Three phases of DiGeorge/22q11 deletion syndrome pathogenesis during brain development: Patterning, proliferation, and mitochondrial functions of 22q11 genes

Published in:

International Journal of Developmental Neuroscience, 2011, v. 29, n. 3, p. 283, doi. 10.1016/j.ijdevneu.2010.08.005

By:

Meechan, D.W.;
Maynard, T.M.;
Tucker, E.S.;
LaMantia, A.-S.

Publication type:

Article

Thymic stromal alterations and genetic disorders of immune system.

Published in:

Frontiers in Immunology, 2015, v. 6, p. 1, doi. 10.3389/fimmu.2015.00081

By:

Pignata, Claudio;
D'Assante, Roberta;
Sousa, Ana E.

Publication type:

Article

Absence of the vagus nerve in the stomach of Tbx1.

Published in:

Neurogastroenterology & Motility, 2011, v. 23, n. 2, p. 125, doi. 10.1111/j.1365-2982.2010.01615.x

By:

CALMONT, A.;
THAPAR, N.;
SCAMBLER, P. J.;
BURNS, A. J.

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

Vzácný případ DiGeorgeova syndromu s anomáliemi končetin: přínos vyšetření metodou SNP microarrayí?

Published in:

Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2015, v. 70, n. 5, p. 293

By:

Hladíková, A.;
Plevová, P.;
Balcar, A.;
Černá, D.;
Tvrdá, P.;
Šilhánová, E.;
Grečmalová, D.;
Křepelová, A.

Publication type:

Article

Hermes.

Published in:: 2020
Publication type:: Journal 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