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244 related items for PubMed ID: 28604963

  • 1. [Phenotypic and genotypic analysis of a fetus carrying an intermediate 22q11.2 deletion encompassing the CRKL gene].
    Lin S, Zheng X, Gu H, Li M.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Jun 10; 34(3):393-397. PubMed ID: 28604963
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  • 2. Prenatal diagnosis and molecular cytogenetic characterization of chromosome 22q11.2 deletion syndrome associated with congenital heart defects.
    Kuo YL, Chen CP, Wang LK, Ko TM, Chang TY, Chern SR, Wu PS, Chen YT, Chang SY.
    Taiwan J Obstet Gynecol; 2014 Jun 10; 53(2):248-51. PubMed ID: 25017279
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  • 3. [Prenatal diagnosis of 22q11 microdeletion syndrome].
    Cai M, Huang H, Lin N, Guo N, Wu X, Su L, Xu L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Apr 10; 34(2):192-195. PubMed ID: 28397216
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  • 4. 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 10; 185(10):3042-3047. PubMed ID: 34196458
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  • 5. [Genotype and phenotype study of two patients with 22q11.2 deletion syndrome].
    Zhu H, Wang A, Zhang H, Ji C, Zhan X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct 10; 31(5):623-7. PubMed ID: 25297596
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  • 6. Prenatal diagnosis by FISH of a 22q11 deletion in two families.
    Portnoï MF, Joyé N, Gonzales M, Demczuk S, Fermont L, Gaillard G, Bercau G, Morlier G, Taillemite JL.
    J Med Genet; 1998 Feb 10; 35(2):165-8. PubMed ID: 9507401
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  • 7. 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 10; 58(1):93-98. PubMed ID: 27629806
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  • 10. Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome.
    Guris DL, Fantes J, Tara D, Druker BJ, Imamoto A.
    Nat Genet; 2001 Mar 10; 27(3):293-8. PubMed ID: 11242111
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  • 12. [Genotype and phenotype analysis of a child with partial 18q deletion syndrome].
    Shi S, Guo L, Zha Q, Shi Z, Yang Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Aug 10; 34(4):567-570. PubMed ID: 28777861
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  • 16. [Genotype and phenotype studies on fetuses of 22q11.2 deletion syndrome].
    Zhu H, Zhang Y, Ji C, Li S, Niu Y, Zhang H, Chen L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jul 10; 37(7):721-724. PubMed ID: 32619250
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  • 18. Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.
    Beaujard MP, Chantot S, Dubois M, Keren B, Carpentier W, Mabboux P, Whalen S, Vodovar M, Siffroi JP, Portnoï MF.
    Eur J Med Genet; 2009 Jul 10; 52(5):321-7. PubMed ID: 19467348
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