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Journal Abstract Search

168 related items for PubMed ID: 33472199

  • 21. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
    Koczkowska M, Wierzba J, Śmigiel R, Sąsiadek M, Cabała M, Ślężak R, Iliszko M, Kardaś I, Limon J, Lipska-Ziętkiewicz BS.
    J Appl Genet; 2017 Feb; 58(1):93-98. PubMed ID: 27629806
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  • 22. 22q11.2 Microduplication with thyroid hemiagenesis.
    Kim HJ, Jo HS, Yoo EG, Chung IH, Kim SW, Lee KH, Chang YH.
    Horm Res Paediatr; 2013 Feb; 79(4):243-9. PubMed ID: 23364243
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  • 23. Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation.
    Li L, Yi Z, Xi H, Ma L, Shao H, Wang W, Pan H, Li M, Jiang H.
    Ital J Pediatr; 2019 Aug 23; 45(1):109. PubMed ID: 31443662
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  • 24. Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication.
    Pires R, Pires LM, Vaz SO, Maciel P, Anjos R, Moniz R, Branco CC, Cabral R, Carreira IM, Mota-Vieira L.
    BMC Genet; 2014 Nov 07; 15():115. PubMed ID: 25376777
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  • 25. 22q11.2 microduplication syndrome and juvenile glaucoma.
    Di Matteo F, Bettin P, Ferrari G, Fiori M, Ciampi C, Manfredini E, Rabiolo A, Bandello F.
    Ophthalmic Genet; 2018 Aug 07; 39(4):532-538. PubMed ID: 29902089
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  • 27. Bernard-Soulier syndrome associated with 22q11.2 deletion and clinical features of DiGeorge/velocardiofacial syndrome.
    Souto Filho JTD, Ribeiro HAA, Fassbender IPB, Ribeiro JMMC, Ferreira Júnior WDS, Figueiredo LCS.
    Blood Coagul Fibrinolysis; 2019 Dec 07; 30(8):423-425. PubMed ID: 31738289
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  • 31. The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system.
    Mikhail FM, Burnside RD, Rush B, Ibrahim J, Godshalk R, Rutledge SL, Robin NH, Descartes MD, Carroll AJ.
    Genet Med; 2014 Jan 07; 16(1):92-100. PubMed ID: 23765049
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  • 32. 22q11.2 duplication: a review of neuropsychiatric correlates and a newly observed case of prototypic sociopathy.
    Vyas S, Constantino JN, Baldridge D.
    Cold Spring Harb Mol Case Stud; 2019 Dec 07; 5(6):. PubMed ID: 31836587
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  • 34. Risk of Psychiatric Disorders Among Individuals With the 22q11.2 Deletion or Duplication: A Danish Nationwide, Register-Based Study.
    Hoeffding LK, Trabjerg BB, Olsen L, Mazin W, Sparsø T, Vangkilde A, Mortensen PB, Pedersen CB, Werge T.
    JAMA Psychiatry; 2017 Mar 01; 74(3):282-290. PubMed ID: 28114601
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  • 35. 22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex.
    Beaman GM, Woolf AS, Cervellione RM, Keene D, Mushtaq I, Urquhart JE, Stuart HM, Newman WG.
    Am J Med Genet A; 2019 Mar 01; 179(3):404-409. PubMed ID: 30628148
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  • 37. Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).
    Martin-Nalda A, Cueto-González AM, Argudo-Ramírez A, Marin-Soria JL, Martinez-Gallo M, Colobran R, Plaja A, Castells N, Riviere J, Tizzano EF, Soler-Palacin P.
    Mol Genet Genomic Med; 2019 Dec 01; 7(12):e1016. PubMed ID: 31663686
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  • 40. Central 22q11.2 deletion (LCR22 B-D) in a fetus with severe fetal growth restriction and a mother with severe systemic lupus erythematosus: Further evidence of CRKL haploinsufficiency in the pathogenesis of 22q11.2 deletion syndrome.
    Lin I, Afshar Y, Goldstein J, Grossman J, Grody WW, Quintero-Rivera F.
    Am J Med Genet A; 2021 Oct 01; 185(10):3042-3047. PubMed ID: 34196458
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