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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

193 related items for PubMed ID: 26813943

  • 1. 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; 24(8):1216-9. PubMed ID: 26813943
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  • 7. 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; 170A(2):344-354. PubMed ID: 26590800
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  • 9. CHD7 Disorder-Not CHARGE Syndrome-Presenting as Isolated Cochleovestibular Dysfunction.
    Driesen J, Van Hoecke H, Maes L, Janssens S, Acke F, De Leenheer E.
    Genes (Basel); 2024 May 19; 15(5):. PubMed ID: 38790272
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  • 13. 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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  • 14. 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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  • 17. 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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  • 18. A novel missense variant in CHD7, a rare cause of CHARGE syndrome.
    Joslyn P, Meddaugh H, Torres J, Patrick-Esteve J, Olister S, Mumphrey C, Zambrano R.
    Clin Dysmorphol; 2020 Jul 25; 29(3):158-160. PubMed ID: 31929333
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  • 19. Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures.
    Choo DI, Tawfik KO, Martin DM, Raphael Y.
    Am J Med Genet C Semin Med Genet; 2017 Dec 25; 175(4):439-449. PubMed ID: 29082607
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  • 20. Family history and clefting as major criteria for CHARGE syndrome.
    Hughes SS, Welsh HI, Safina NP, Bejaoui K, Ardinger HH.
    Am J Med Genet A; 2014 Jan 25; 164A(1):48-53. PubMed ID: 24214489
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