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Journal Abstract Search

215 related items for PubMed ID: 34804071

  • 1. Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing.
    Ripen AM, Chiow MY, Rama Rao PR, Mohamad SB.
    Front Immunol; 2021; 12():778133. PubMed ID: 34804071
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  • 3. Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.
    Stasia MJ, Mollin M, Martel C, Satre V, Coutton C, Amblard F, Vieville G, van Montfrans JM, Boelens JJ, Veenstra-Knol HE, van Leeuwen K, de Boer M, Brion JP, Roos D.
    Eur J Hum Genet; 2013 Oct; 21(10):1079-84. PubMed ID: 23340515
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  • 6. Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.
    Masson J, Demily C, Chatron N, Labalme A, Rollat-Farnier PA, Schluth-Bolard C, Gilbert-Dussardier B, Giuliano F, Touraine R, Tordjman S, Verloes A, Testa G, Sanlaville D, Edery P, Lesca G, Rossi M.
    Orphanet J Rare Dis; 2019 May 31; 14(1):121. PubMed ID: 31151468
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  • 7. Gene-scan method for the recognition of carriers and patients with p47(phox)-deficient autosomal recessive chronic granulomatous disease.
    Dekker J, de Boer M, Roos D.
    Exp Hematol; 2001 Nov 31; 29(11):1319-25. PubMed ID: 11698128
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  • 11. Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.
    Del Campo M, Antonell A, Magano LF, Muñoz FJ, Flores R, Bayés M, Pérez Jurado LA.
    Am J Hum Genet; 2006 Apr 31; 78(4):533-42. PubMed ID: 16532385
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  • 12. Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase.
    Roos D, de Boer M, Köker MY, Dekker J, Singh-Gupta V, Ahlin A, Palmblad J, Sanal O, Kurenko-Deptuch M, Jolles S, Wolach B.
    Hum Mutat; 2006 Dec 31; 27(12):1218-29. PubMed ID: 16972229
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  • 13. Chromosomal Microarray Analysis in Taiwanese Patients with Williams-Beuren Syndrome.
    Kuo HT, Chen CH, Lin CY, Chang YS, Chang JG.
    Cytogenet Genome Res; 2019 Dec 31; 159(4):182-189. PubMed ID: 31931504
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  • 15. Targeted Repair of p47-CGD in iPSCs by CRISPR/Cas9: Functional Correction without Cleavage in the Highly Homologous Pseudogenes.
    Klatt D, Cheng E, Philipp F, Selich A, Dahlke J, Schmidt RE, Schott JW, Büning H, Hoffmann D, Thrasher AJ, Schambach A.
    Stem Cell Reports; 2019 Oct 08; 13(4):590-598. PubMed ID: 31543470
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  • 16. Chronic granulomatous disease presenting with small bone osteomyelitis in a young child: A case report.
    Chari PS, Chandra P, Prasad S, Bhattad S.
    Indian J Pathol Microbiol; 2018 Oct 08; 61(4):557-560. PubMed ID: 30303148
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  • 17. Novel Diagnostic Tool for p47 phox -Deficient Chronic Granulomatous Disease Patient and Carrier Detection.
    Wrona D, Siler U, Reichenbach J.
    Mol Ther Methods Clin Dev; 2019 Jun 14; 13():274-278. PubMed ID: 30859112
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  • 18. Clinical, Immunological, and Molecular Findings of Patients with p47phox Defect Chronic Granulomatous Disease (CGD) in Indian Families.
    Kulkarni M, Desai M, Gupta M, Dalvi A, Taur P, Terrance A, Bhat S, Manglani M, Raj R, Shah I, Madkaikar M.
    J Clin Immunol; 2016 Nov 14; 36(8):774-784. PubMed ID: 27699571
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  • 20. Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.
    Codina-Sola M, Costa-Roger M, Pérez-García D, Flores R, Palacios-Verdú MG, Cusco I, Pérez-Jurado LA.
    J Med Genet; 2019 Dec 14; 56(12):801-808. PubMed ID: 31413120
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