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Journal Abstract Search

248 related items for PubMed ID: 24979395

  • 41. 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; 32(7):692-4. PubMed ID: 22517486
    [Abstract] [Full Text] [Related]

  • 42. 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
    [Abstract] [Full Text] [Related]

  • 43. CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.
    Wincent J, Holmberg E, Strömland K, Soller M, Mirzaei L, Djureinovic T, Robinson K, Anderlid B, Schoumans J.
    Clin Genet; 2008 Jul; 74(1):31-8. PubMed ID: 18445044
    [Abstract] [Full Text] [Related]

  • 44. Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients.
    Sohn YB, Ko JM, Shin CH, Yang SW, Chae JH, Lee KA.
    J Hum Genet; 2016 Mar; 61(3):235-9. PubMed ID: 26538304
    [Abstract] [Full Text] [Related]

  • 45. Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.
    Vuorela P, Ala-Mello S, Saloranta C, Penttinen M, Pöyhönen M, Huoponen K, Borozdin W, Bausch B, Botzenhart EM, Wilhelm C, Kääriäinen H, Kohlhase J.
    Genet Med; 2007 Oct; 9(10):690-4. PubMed ID: 18073582
    [Abstract] [Full Text] [Related]

  • 46. Genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome.
    Cho HJ, Song MH, Choi SY, Kim J, Lee J, Kim UK, Bok J, Choi JY.
    Gene; 2013 Apr 01; 517(2):164-8. PubMed ID: 23333604
    [Abstract] [Full Text] [Related]

  • 47. CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.
    Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley WF, Hoefsloot LH.
    Clin Genet; 2009 Jan 01; 75(1):65-71. PubMed ID: 19021638
    [Abstract] [Full Text] [Related]

  • 48. The spectrum of cochlear malformations in CHARGE syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear.
    Lewis MA, Juliano A, Robson C, Clement E, Nash R, Rajput K, D'Arco F.
    Neuroradiology; 2023 Apr 01; 65(4):819-834. PubMed ID: 36715725
    [Abstract] [Full Text] [Related]

  • 49. Knockdown of fbxl10/kdm2bb rescues chd7 morphant phenotype in a zebrafish model of CHARGE syndrome.
    Balow SA, Pierce LX, Zentner GE, Conrad PA, Davis S, Sabaawy HE, McDermott BM, Scacheri PC.
    Dev Biol; 2013 Oct 01; 382(1):57-69. PubMed ID: 23920116
    [Abstract] [Full Text] [Related]

  • 50. Mutation update on the CHD7 gene involved in CHARGE syndrome.
    Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM, Hoefsloot LH.
    Hum Mutat; 2012 Aug 01; 33(8):1149-60. PubMed ID: 22461308
    [Abstract] [Full Text] [Related]

  • 51. Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.
    Bosman EA, Penn AC, Ambrose JC, Kettleborough R, Stemple DL, Steel KP.
    Hum Mol Genet; 2005 Nov 15; 14(22):3463-76. PubMed ID: 16207732
    [Abstract] [Full Text] [Related]

  • 52. Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome.
    Hurd EA, Adams ME, Layman WS, Swiderski DL, Beyer LA, Halsey KE, Benson JM, Gong TW, Dolan DF, Raphael Y, Martin DM.
    Hear Res; 2011 Dec 15; 282(1-2):184-95. PubMed ID: 21875659
    [Abstract] [Full Text] [Related]

  • 53. Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis.
    Bilan F, Legendre M, Charraud V, Manière B, Couet D, Gilbert-Dussardier B, Kitzis A.
    J Mol Diagn; 2012 Jan 15; 14(1):46-55. PubMed ID: 22033296
    [Abstract] [Full Text] [Related]

  • 54. Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome.
    Dauber A, Hirschhorn JN, Picker J, Maher TA, Milunsky A.
    Pediatrics; 2010 Dec 15; 126(6):e1594-8. PubMed ID: 21041284
    [Abstract] [Full Text] [Related]

  • 55. Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.
    Balasubramanian R, Choi JH, Francescatto L, Willer J, Horton ER, Asimacopoulos EP, Stankovic KM, Plummer L, Buck CL, Quinton R, Nebesio TD, Mericq V, Merino PM, Meyer BF, Monies D, Gusella JF, Al Tassan N, Katsanis N, Crowley WF.
    Proc Natl Acad Sci U S A; 2014 Dec 16; 111(50):17953-8. PubMed ID: 25472840
    [Abstract] [Full Text] [Related]

  • 56. Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries.
    Reynaert N, de Zegher F, Francois I, Devriendt K, Beckers D, Casteels K.
    Horm Res Paediatr; 2016 Dec 16; 85(4):288-90. PubMed ID: 26741373
    [Abstract] [Full Text] [Related]

  • 57. Structural pituitary abnormalities associated with CHARGE syndrome.
    Gregory LC, Gevers EF, Baker J, Kasia T, Chong K, Josifova DJ, Caimari M, Bilan F, McCabe MJ, Dattani MT.
    J Clin Endocrinol Metab; 2013 Apr 16; 98(4):E737-43. PubMed ID: 23526466
    [Abstract] [Full Text] [Related]

  • 58. Ophthalmic features of CHARGE syndrome with CHD7 mutations.
    Nishina S, Kosaki R, Yagihashi T, Azuma N, Okamoto N, Hatsukawa Y, Kurosawa K, Yamane T, Mizuno S, Tsuzuki K, Kosaki K.
    Am J Med Genet A; 2012 Mar 16; 158A(3):514-8. PubMed ID: 22302456
    [Abstract] [Full Text] [Related]

  • 59. Novel noncanonical splice site variant causes mild CHD7-related disorder with variable intrafamilial expressivity.
    Boschann F, Kosmehl S, Bloching M, Grünhagen J, Hildebrand G, Horn D, Lyutenski S.
    Am J Med Genet A; 2023 Apr 16; 191(4):1128-1132. PubMed ID: 36708132
    [Abstract] [Full Text] [Related]

  • 60. 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 16; 6(3):248-54. PubMed ID: 23677905
    [Abstract] [Full Text] [Related]

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