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Page 1
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. McDonald-McGinn DM, et al. Nat Rev Dis Primers. 2015 Nov 19;1:15071. doi: 10.1038/nrdp.2015.71. Nat Rev Dis Primers. 2015. PMID: 27189754 Free PMC article. Review.
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description …
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result …
Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management.
Biggs SE, Gilchrist B, May KR. Biggs SE, et al. Curr Allergy Asthma Rep. 2023 Apr;23(4):213-222. doi: 10.1007/s11882-023-01071-4. Epub 2023 Mar 10. Curr Allergy Asthma Rep. 2023. PMID: 36897497 Free PMC article. Review.
PURPOSE OF REVIEW: This review focuses on immunologic findings, relationships among immunologic findings and associated conditions of autoimmunity and atopy, and management of immunologic disease in chromosome 22q11.2 deletion syndrome (22q11.2DS, hist …
PURPOSE OF REVIEW: This review focuses on immunologic findings, relationships among immunologic findings and associated conditions of autoim …
22q11.2 deletion syndrome and congenital heart disease.
Goldmuntz E. Goldmuntz E. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):64-72. doi: 10.1002/ajmg.c.31774. Epub 2020 Feb 12. Am J Med Genet C Semin Med Genet. 2020. PMID: 32049433 Review.
The 22q11.2 deletion syndrome has an estimated prevalence of 1 in 4-6,000 livebirths. ...
The 22q11.2 deletion syndrome has an estimated prevalence of 1 in 4-6,000 livebirths. ...
Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome.
Sullivan KE. Sullivan KE. Immunol Rev. 2019 Jan;287(1):186-201. doi: 10.1111/imr.12701. Immunol Rev. 2019. PMID: 30565249 Review.
Chromosome 22q11.2 deletion syndrome is the most common microdeletion syndrome in humans. ...
Chromosome 22q11.2 deletion syndrome is the most common microdeletion syndrome in humans. ...
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
McDonald-McGinn DM, Sullivan KE. McDonald-McGinn DM, et al. Medicine (Baltimore). 2011 Jan;90(1):1-18. doi: 10.1097/MD.0b013e3182060469. Medicine (Baltimore). 2011. PMID: 21200182 Free article. Review.
Chromosome 22q11.2 deletion syndrome is a common syndrome also known as DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1:4000 births, and the incidence is increasing due to affected parents beari …
Chromosome 22q11.2 deletion syndrome is a common syndrome also known as DiGeorge syndrome a …
Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.
Szczawińska-Popłonyk A, Schwartzmann E, Chmara Z, Głukowska A, Krysa T, Majchrzycki M, Olejnicki M, Ostrowska P, Babik J. Szczawińska-Popłonyk A, et al. Int J Mol Sci. 2023 May 5;24(9):8317. doi: 10.3390/ijms24098317. Int J Mol Sci. 2023. PMID: 37176024 Free PMC article. Review.
The 22q11.2 deletion syndrome is a multisystemic disorder characterized by a marked variability of phenotypic features, making the diagnosis challenging for clinicians. ...Significant progress has been made in understanding the complex molecular geneti …
The 22q11.2 deletion syndrome is a multisystemic disorder characterized by a marked variability of phenotypic fe …
Molecular genetics of 22q11.2 deletion syndrome.
Morrow BE, McDonald-McGinn DM, Emanuel BS, Vermeesch JR, Scambler PJ. Morrow BE, et al. Am J Med Genet A. 2018 Oct;176(10):2070-2081. doi: 10.1002/ajmg.a.40504. Am J Med Genet A. 2018. PMID: 30380194 Free PMC article. Review.
The 22q11.2 deletion syndrome (22q11.2DS) is a congenital malformation and neuropsychiatric disorder caused by meiotic chromosome rearrangements. ...
The 22q11.2 deletion syndrome (22q11.2DS) is a congenital malformation and neuropsychiatric disorder caused by m …
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. Cirillo A, et al. Heart Fail Clin. 2022 Jan;18(1):155-164. doi: 10.1016/j.hfc.2021.07.009. Epub 2021 Oct 25. Heart Fail Clin. 2022. PMID: 34776076 Review.
DiGeorge syndrome (DGS), also known as "22q11.2 deletion syndrome" (22q11DS) (MIM # 192430 # 188400), is a genetic disorder caused by hemizygous microdeletion of the long arm of chromosome 22. ...
DiGeorge syndrome (DGS), also known as "22q11.2 deletion syndrome" (22q11DS) (MIM # 192430 # 18840 …
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.
Óskarsdóttir S, Boot E, Crowley TB, Loo JCY, Arganbright JM, Armando M, Baylis AL, Breetvelt EJ, Castelein RM, Chadehumbe M, Cielo CM, de Reuver S, Eliez S, Fiksinski AM, Forbes BJ, Gallagher E, Hopkins SE, Jackson OA, Levitz-Katz L, Klingberg G, Lambert MP, Marino B, Mascarenhas MR, Moldenhauer J, Moss EM, Nowakowska BA, Orchanian-Cheff A, Putotto C, Repetto GM, Schindewolf E, Schneider M, Solot CB, Sullivan KE, Swillen A, Unolt M, Van Batavia JP, Vingerhoets C, Vorstman J, Bassett AS, McDonald-McGinn DM. Óskarsdóttir S, et al. Genet Med. 2023 Mar;25(3):100338. doi: 10.1016/j.gim.2022.11.006. Epub 2023 Feb 2. Genet Med. 2023. PMID: 36729053 Free article. Review.
This review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society, the international scientific organization studying chromosome 22q11.2 differences and re …
This review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion …
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. Mustillo PJ, et al. J Clin Immunol. 2023 Feb;43(2):247-270. doi: 10.1007/s10875-022-01418-y. Epub 2023 Jan 17. J Clin Immunol. 2023. PMID: 36648576 Free PMC article. Review.
Current practices vary widely regarding the immunological work-up and management of patients affected with defects in thymic development (DTD), which include chromosome 22q11.2 microdeletion syndrome (22q11.2del) and other causes of DiGeorge syndrome (DGS) an …
Current practices vary widely regarding the immunological work-up and management of patients affected with defects in thymic development (DT …
524 results