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PUBMED FOR HANDHELDS

Journal Abstract Search

156 related items for PubMed ID: 31929333

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  • 4. Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.
    Cappuccio G, Ginocchio VM, Maffè A, Ungari S, Andria G, Melis D.
    Clin Genet; 2014 Feb; 85(2):201-2. PubMed ID: 23495722
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  • 5. Novel frameshift mutation in the CHD7 gene associated with CHARGE syndrome with preaxial polydactyly.
    Surányi A, Maróti Z, Tálosi G, Kalmár T, Kaiser L, Bereczki C, Pál A, Keresztúri A.
    Clin Dysmorphol; 2016 Jul; 25(3):98-100. PubMed ID: 26901670
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  • 6. A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.
    Bergman JE, Janssen N, van der Sloot AM, de Walle HE, Schoots J, Rendtorff ND, Tranebjaerg L, Hoefsloot LH, van Ravenswaaij-Arts CM, Hofstra RM.
    Hum Mutat; 2012 Aug; 33(8):1251-60. PubMed ID: 22539353
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  • 7. Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome.
    Michelucci A, Ghirri P, Iacopetti P, Conidi ME, Fogli A, Baldinotti F, Lunardi S, Forli F, Moscuzza F, Berrettini S, Boldrini A, Simi P, Pellegrini S.
    Int J Pediatr Otorhinolaryngol; 2010 Dec; 74(12):1441-4. PubMed ID: 20943277
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  • 9. Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report.
    Obata Y, Takayama K, Nishikubo H, Tobimatsu A, Matsuda I, Uehara Y, Maruo Y, Sho H, Kosugi M, Yasuda T.
    BMC Endocr Disord; 2023 May 25; 23(1):118. PubMed ID: 37231428
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  • 10. Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease.
    O'Grady GL, Ma A, Sival D, Wong MT, Peduto T, Menezes MP, Young H, Waddell L, Ghaoui R, Needham M, Lek M, North KN, MacArthur DG, van Ravenswaaij-Arts CM, Clarke NF.
    Eur J Hum Genet; 2016 Aug 25; 24(8):1216-9. PubMed ID: 26813943
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  • 11. Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family.
    Colin E, Bonneau D, Boussion F, Guichet A, Delorme B, Triau S, Gillard P, Kitzis A, Bilan F.
    Prenat Diagn; 2012 Jul 25; 32(7):692-4. PubMed ID: 22517486
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  • 12. Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.
    Xu C, Cassatella D, van der Sloot AM, Quinton R, Hauschild M, De Geyter C, Flück C, Feller K, Bartholdi D, Nemeth A, Halperin I, Pekic Djurdjevic S, Maeder P, Papadakis G, Dwyer AA, Marino L, Favre L, Pignatelli D, Niederländer NJ, Acierno J, Pitteloud N.
    Genet Med; 2018 Aug 25; 20(8):872-881. PubMed ID: 29144511
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  • 13. Non-homologous end joining repair mechanism-mediated deletion of CHD7 gene in a patient with typical CHARGE syndrome.
    Lee SJ, Chae JH, Lee JA, Cho SI, Seo SH, Park H, Seong MW, Park SS.
    Ann Lab Med; 2015 Jan 25; 35(1):141-5. PubMed ID: 25553296
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  • 14. A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing.
    Kim HH, Kim AR, Kim NKD, Ahn SY, Sung SI, Park WS, Lee C, Chang YS, Park WY.
    Neonatology; 2020 Jan 25; 117(3):374-379. PubMed ID: 32126561
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  • 15. [CHARGE syndrome: a new mutation in the CHD7 gene].
    Cabrejas Lalmolda A, Conchello Monleon R, Roncalés Samanes P, Royo Pérez D, Rite Gracia S.
    An Pediatr (Barc); 2014 Dec 25; 81(6):e46-7. PubMed ID: 24636850
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  • 16. Response to correspondence to Hale et al. atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.
    Hale CL, Niederriter AN, Green GE, Martin DM.
    Am J Med Genet A; 2016 Dec 25; 170(12):3367-3368. PubMed ID: 26996150
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  • 18. Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.
    Hale CL, Niederriter AN, Green GE, Martin DM.
    Am J Med Genet A; 2016 Feb 25; 170A(2):344-354. PubMed ID: 26590800
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  • 20. Craniosynostosis is a feature of CHD7-related CHARGE syndrome.
    De Luca C, Picone S, Cassina M, Marziali S, Morlino S, Camerota L, Tamburrini G, Castori M, Paolillo P, Salviati L, Brancati F.
    Am J Med Genet A; 2021 Jul 25; 185(7):2160-2163. PubMed ID: 33844462
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