Works matching 22q11 deletion syndrome

Results: 999
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    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
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    OC06.04: Population‐based prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort.

    Published in:
    Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 14, doi. 10.1002/uog.20459
    By:
    • Hui, L.;
    • Poulton, A.;
    • Kluckow, E.;
    • Lindquist, A.;
    • Hutchinson, B.;
    • Pertile, M.D.;
    • Bonacquisto, L.;
    • Gugasyan, L.;
    • Kulkarni, A.;
    • Harraway, J.;
    • Howden, A.;
    • McCoy, R.;
    • da Silva Costa, F.;
    • Menezes, M.;
    • Palma‐Dias, R.;
    • Nisbet, D.;
    • Martin, N.;
    • Bethune, M.;
    • Poulakis, Z.;
    • Halliday, J.
    Publication type:
    Article
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    Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs.

    Published in:
    Journal of Clinical Immunology, 2022, v. 42, n. 3, p. 618, doi. 10.1007/s10875-021-01201-5
    By:
    • Framme, Jenny Lingman;
    • Lundqvist, Christina;
    • Lundell, Anna-Carin;
    • van Schouwenburg, Pauline A.;
    • Lemarquis, Andri L.;
    • Thörn, Karolina;
    • Lindgren, Susanne;
    • Gudmundsdottir, Judith;
    • Lundberg, Vanja;
    • Degerman, Sofie;
    • Zetterström, Rolf H.;
    • Borte, Stephan;
    • Hammarström, Lennart;
    • Telemo, Esbjörn;
    • Hultdin, Magnus;
    • van der Burg, Mirjam;
    • Fasth, Anders;
    • Oskarsdóttir, Sólveig;
    • Ekwall, Olov
    Publication type:
    Article
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    Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.

    Published in:
    Human Genetics, 2021, v. 140, n. 6, p. 885, doi. 10.1007/s00439-020-02252-1
    By:
    • Jeanne, Médéric;
    • Vuillaume, Marie-Laure;
    • Ung, Dévina C.;
    • Vancollie, Valerie E.;
    • Wagner, Christel;
    • Collins, Stephan C.;
    • Vonwill, Sandrine;
    • Haye, Damien;
    • Chelloug, Nora;
    • Pfundt, Rolph;
    • Kummeling, Joost;
    • Moizard, Marie-Pierre;
    • Marouillat, Sylviane;
    • Kleefstra, Tjitske;
    • Yalcin, Binnaz;
    • Laumonnier, Frédéric;
    • Toutain, Annick
    Publication type:
    Article
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    A minimum estimate of the prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort.

    Published in:
    2020
    By:
    • Hui, Lisa;
    • Poulton, Alice;
    • Kluckow, Eliza;
    • Lindquist, Anthea;
    • Hutchinson, Briohny;
    • Pertile, Mark D;
    • Bonacquisto, Leonard;
    • Gugasyan, Lucy;
    • Kulkarni, Abhijit;
    • Harraway, James;
    • Howden, Amanda;
    • McCoy, Richard;
    • Costa, Fabricio Da Silva;
    • Menezes, Melody;
    • Palma-Dias, Ricardo;
    • Nisbet, Debbie;
    • Martin, Nicole;
    • Bethune, Michael;
    • Poulakis, Zeffie;
    • Halliday, Jane
    Publication type:
    journal article
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    First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende–Gupta and 22q11.2 Deletion Syndromes.

    Published in:
    Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 4, p. 1, doi. 10.1002/mgg3.70096
    By:
    • Racine, Caroline;
    • Garde, Aurore;
    • Martz, Olivia;
    • Safraou, Hana;
    • Eluard, Vinciane;
    • Rousseau, Thierry;
    • Marle, Nathalie;
    • Harizay, Fara T.;
    • Martin, Laurent;
    • Maraval, Julien;
    • Bruel, Ange‐Line;
    • Philippe, Christophe;
    • Thauvin‐Robinet, Christel;
    • Faivre, Laurence
    Publication type:
    Article
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    Source‐based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome.

    Published in:
    Human Brain Mapping, 2024, v. 45, n. 1, p. 1, doi. 10.1002/hbm.26553
    By:
    • Ge, Ruiyang;
    • Ching, Christopher R. K.;
    • Bassett, Anne S.;
    • Kushan, Leila;
    • Antshel, Kevin M.;
    • van Amelsvoort, Therese;
    • Bakker, Geor;
    • Butcher, Nancy J.;
    • Campbell, Linda E.;
    • Chow, Eva W. C.;
    • Craig, Michael;
    • Crossley, Nicolas A.;
    • Cunningham, Adam;
    • Daly, Eileen;
    • Doherty, Joanne L.;
    • Durdle, Courtney A.;
    • Emanuel, Beverly S.;
    • Fiksinski, Ania;
    • Forsyth, Jennifer K.;
    • Fremont, Wanda
    Publication type:
    Article
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