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Di-George syndrome相关文献:
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
McDonald-McGinn DM, Sullivan KE.
Medicine (Baltimore). 2011 Jan;90(1):1-18. doi: 10.1097/MD.0b013e3182060469.
PMID:21200182
22q11.2 deletion syndrome.
McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS.
Nat Rev Dis Primers. 2015 Nov 19;1:15071. doi: 10.1038/nrdp.2015.71.
PMID:27189754
Clinical Manifestations of 22q11.2 Deletion Syndrome.
Cirillo A, Lioncino M, Maratea A, Passariello A, Fusco A, Fratta F, Monda E, Caiazza M, Signore G, Esposito A, Baban A, Versacci P, Putotto C, Marino B, Pignata C, Cirillo E, Giardino G, Sarubbi B, Limongelli G, Russo MG.
Heart Fail Clin. 2022 Jan;18(1):155-164. doi: 10.1016/j.hfc.2021.07.009. Epub 2021 Oct 25.
PMID:34776076
Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management.
Biggs SE, Gilchrist B, May KR.
Curr Allergy Asthma Rep. 2023 Apr;23(4):213-222. doi: 10.1007/s11882-023-01071-4. Epub 2023 Mar 10.
PMID:36897497
DiGeorge syndrome: consider the diagnosis.
Altshuler E, Saidi A, Budd J.
BMJ Case Rep. 2022 Feb 2;15(2):e245164. doi: 10.1136/bcr-2021-245164.
PMID:35110278
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
Mustillo PJ, Sullivan KE, Chinn IK, Notarangelo LD, Haddad E, Davies EG, de la Morena MT, Hartog N, Yu JE, Hernandez-Trujillo VP, Ip W, Franco J, Gambineri E, Hickey SE, Varga E, Markert ML.
J Clin Immunol. 2023 Feb;43(2):247-270. doi: 10.1007/s10875-022-01418-y. Epub 2023 Jan 17.
PMID:36648576
[Di George syndrome].
Urrejola P, Cattani A, Heusser F, Talesnik E.
Rev Chil Pediatr. 1991 Nov-Dec;62(6):381-5.
PMID:1845646
Thalamocortical organoids enable in vitro modeling of 22q11.2 microdeletion associated with neuropsychiatric disorders.
Shin D, Kim CN, Ross J, Hennick KM, Wu SR, Paranjape N, Leonard R, Wang JC, Keefe MG, Pavlovic BJ, Donohue KC, Moreau C, Wigdor EM, Larson HH, Allen DE, Cadwell CR, Bhaduri A, Popova G, Bearden CE, Pollen AA, Jacquemont S, Sanders SJ, Haussler D, Wiita AP, Frost NA, Sohal VS, Nowakowski TJ.
Cell Stem Cell. 2024 Mar 7;31(3):421-432.e8. doi: 10.1016/j.stem.2024.01.010. Epub 2024 Feb 20.
PMID:38382530
Di-George syndrome presenting with hypocalcaemia in adulthood: two case reports and a review.
Kar PS, Ogoe B, Poole R, Meeking D.
J Clin Pathol. 2005 Jun;58(6):655-7. doi: 10.1136/jcp.2004.023218.
PMID:15917421
Neurological manifestation of 22q11.2 deletion syndrome.
Bayat M, Bayat A.
Neurol Sci. 2022 Mar;43(3):1695-1700. doi: 10.1007/s10072-021-05825-8. Epub 2022 Jan 18.
PMID:35039989
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