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Journal Abstract Search

182 related items for PubMed ID: 32699053

  • 1. CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty.
    Lau CL, Chee YY, Chung BHY, Wong MSR.
    BMJ Case Rep; 2020 Jul 22; 13(7):. PubMed ID: 32699053
    [Abstract] [Full Text] [Related]

  • 2. Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.
    Granadillo JL, Wegner DJ, Paul AJ, Willing M, Sisco K, Tedder ML, Sadikovic B, Wambach JA, Baldridge D, Cole FS, Undiagnosed Diseases Network.
    Am J Med Genet A; 2021 Feb 22; 185(2):544-548. PubMed ID: 33184947
    [Abstract] [Full Text] [Related]

  • 3. CHARGE syndrome in nine patients from China.
    Cheng SSW, Luk HM, Chan DKH, Lo IFM.
    Am J Med Genet A; 2020 Jan 22; 182(1):15-19. PubMed ID: 31729160
    [Abstract] [Full Text] [Related]

  • 4. Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
    Chen X, Yan K, Gao Y, Wang H, Chen G, Wu B, Qin Q, Yang L, Zhou W.
    BMC Med Genet; 2019 May 30; 20(1):93. PubMed ID: 31146700
    [Abstract] [Full Text] [Related]

  • 5. CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia.
    Simpson BN, Khattar D, Saal H, Prada CE, Choo D, Marcheschi L, Wiley S, Hopkin RJ.
    Eur J Med Genet; 2021 Jan 30; 64(1):104103. PubMed ID: 33189935
    [Abstract] [Full Text] [Related]

  • 6. 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 30; 170A(2):344-354. PubMed ID: 26590800
    [Abstract] [Full Text] [Related]

  • 7. Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.
    Aramaki M, Udaka T, Kosaki R, Makita Y, Okamoto N, Yoshihashi H, Oki H, Nanao K, Moriyama N, Oku S, Hasegawa T, Takahashi T, Fukushima Y, Kawame H, Kosaki K.
    J Pediatr; 2006 Mar 30; 148(3):410-4. PubMed ID: 16615981
    [Abstract] [Full Text] [Related]

  • 8. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
    Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM.
    J Med Genet; 2006 Apr 30; 43(4):306-14. PubMed ID: 16155193
    [Abstract] [Full Text] [Related]

  • 9. A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report.
    Siavrienė E, Petraitytė G, Mikštienė V, Rančelis T, Maldžienė Ž, Morkūnienė A, Byčkova J, Utkus A, Kučinskas V, Preikšaitienė E.
    BMC Med Genet; 2019 Jul 17; 20(1):127. PubMed ID: 31315586
    [Abstract] [Full Text] [Related]

  • 10. Phenotypic spectrum of CHARGE syndrome based on clinical characteristics.
    Aksel Kılıçarslan Ö, Ataman E, Gürsoy S, Hazan F, Randa C, Çankaya T, Erçal D, Ülgenalp A, Giray Bozkaya Ö.
    Turk J Med Sci; 2018 Oct 31; 48(5):911-915. PubMed ID: 30384553
    [Abstract] [Full Text] [Related]

  • 11. 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 31; 123(5):e871-7. PubMed ID: 19403480
    [Abstract] [Full Text] [Related]

  • 12. CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.
    Green GE, Huq FS, Emery SB, Mukherji SK, Martin DM.
    Otol Neurotol; 2014 Sep 31; 35(8):1466-70. PubMed ID: 24979395
    [Abstract] [Full Text] [Related]

  • 13. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
    Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM.
    J Med Genet; 2011 May 31; 48(5):334-42. PubMed ID: 21378379
    [Abstract] [Full Text] [Related]

  • 14. New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene.
    Holak HM, Kohlhase J, Holak SA, Holak NH.
    Ophthalmic Genet; 2008 Jun 31; 29(2):79-84. PubMed ID: 18484313
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  • 17. The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
    Marcos S, Sarfati J, Leroy C, Fouveaut C, Parent P, Metz C, Wolczynski S, Gérard M, Bieth E, Kurtz F, Verier-Mine O, Perrin L, Archambeaud F, Cabrol S, Rodien P, Hove H, Prescott T, Lacombe D, Christin-Maitre S, Touraine P, Hieronimus S, Dewailly D, Young J, Pugeat M, Hardelin JP, Dodé C.
    J Clin Endocrinol Metab; 2014 Oct 31; 99(10):E2138-43. PubMed ID: 25077900
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  • 20. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
    Legendre M, Abadie V, Attié-Bitach T, Philip N, Busa T, Bonneau D, Colin E, Dollfus H, Lacombe D, Toutain A, Blesson S, Julia S, Martin-Coignard D, Geneviève D, Leheup B, Odent S, Jouk PS, Mercier S, Faivre L, Vincent-Delorme C, Francannet C, Naudion S, Mathieu-Dramard M, Delrue MA, Goldenberg A, Héron D, Parent P, Touraine R, Layet V, Sanlaville D, Quélin C, Moutton S, Fradin M, Jacquette A, Sigaudy S, Pinson L, Sarda P, Guerrot AM, Rossi M, Masurel-Paulet A, El Chehadeh S, Piguel X, Rodriguez-Ballesteros M, Ragot S, Lyonnet S, Bilan F, Gilbert-Dussardier B.
    Am J Med Genet C Semin Med Genet; 2017 Dec 31; 175(4):417-430. PubMed ID: 29178447
    [Abstract] [Full Text] [Related]

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