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Journal Abstract Search

270 related items for PubMed ID: 26921530

  • 21. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.
    Zentner GE, Layman WS, Martin DM, Scacheri PC.
    Am J Med Genet A; 2010 Mar; 152A(3):674-86. PubMed ID: 20186815
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  • 22. CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.
    Jyonouchi S, McDonald-McGinn DM, Bale S, Zackai EH, Sullivan KE.
    Pediatrics; 2009 May; 123(5):e871-7. PubMed ID: 19403480
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  • 23. The cardiac phenotype in patients with a CHD7 mutation.
    Corsten-Janssen N, Kerstjens-Frederikse WS, du Marchie Sarvaas GJ, Baardman ME, Bakker MK, Bergman JE, Hove HD, Heimdal KR, Rustad CF, Hennekam RC, Hofstra RM, Hoefsloot LH, Van Ravenswaaij-Arts CM, Kapusta L.
    Circ Cardiovasc Genet; 2013 Jun; 6(3):248-54. PubMed ID: 23677905
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  • 24. Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient.
    Xu YP, Shi LP, Zhu J.
    BMC Pediatr; 2018 Jun 26; 18(1):203. PubMed ID: 29945602
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  • 28. [The CHARGE syndrome].
    Klingenberg C, Andersen WH.
    Tidsskr Nor Laegeforen; 2008 Jun 12; 128(12):1401-5. PubMed ID: 18552902
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  • 29. Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome.
    Wineland A, Menezes MD, Shimony JS, Shinawi MS, Hullar TE, Hirose K.
    JAMA Otolaryngol Head Neck Surg; 2017 Feb 01; 143(2):168-177. PubMed ID: 27832265
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  • 32. CHARGE syndrome with oculomotor nerve palsy.
    Yang HK, Choi BY, Kim JH, Koo JW, Chang MY, Hwang JM.
    J AAPOS; 2015 Dec 01; 19(6):555-7. PubMed ID: 26691038
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  • 33. Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome.
    Asakura Y, Toyota Y, Muroya K, Kurosawa K, Fujita K, Aida N, Kawame H, Kosaki K, Adachi M.
    J Clin Endocrinol Metab; 2008 Mar 01; 93(3):920-4. PubMed ID: 18089695
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  • 34. 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 01; 24(8):1216-9. PubMed ID: 26813943
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  • 37. CHARGE syndrome.
    Blake KD, Prasad C.
    Orphanet J Rare Dis; 2006 Sep 07; 1():34. PubMed ID: 16959034
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  • 39. 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 07; 170A(2):344-354. PubMed ID: 26590800
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