Works matching 22q11 deletion syndrome

Results: 1003
    1
    2
    3
    4
    5
    6

    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
    7
    8
    9
    10
    11

    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
    12

    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
    13
    14
    15
    16
    17
    18
    19

    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
    20
    21

    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
    22
    23
    24
    25
    26
    27
    28
    29
    30
    31
    32
    33
    34
    35
    36
    37
    38
    39
    40
    41
    42
    43
    44
    45
    46
    47
    48
    49
    50