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Journal Abstract Search

208 related items for PubMed ID: 21094707

  • 21. 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]

  • 22. Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
    Legendre M, Gonzales M, Goudefroye G, Bilan F, Parisot P, Perez MJ, Bonnière M, Bessières B, Martinovic J, Delezoide AL, Jossic F, Fallet-Bianco C, Bucourt M, Tantau J, Loget P, Loeuillet L, Laurent N, Leroy B, Salhi H, Bigi N, Rouleau C, Guimiot F, Quélin C, Bazin A, Alby C, Ichkou A, Gesny R, Kitzis A, Ville Y, Lyonnet S, Razavi F, Gilbert-Dussardier B, Vekemans M, Attié-Bitach T.
    J Med Genet; 2012 Nov; 49(11):698-707. PubMed ID: 23024289
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  • 23. 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; 99(10):E2138-43. PubMed ID: 25077900
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  • 24. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
    Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG.
    Nat Genet; 2004 Sep; 36(9):955-7. PubMed ID: 15300250
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  • 25. Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome.
    El-Ruby M, Hemly NA, Zaki MS.
    Genet Couns; 2007 Sep; 18(2):217-26. PubMed ID: 17710874
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  • 26. CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.
    Green GE, Huq FS, Emery SB, Mukherji SK, Martin DM.
    Otol Neurotol; 2014 Sep; 35(8):1466-70. PubMed ID: 24979395
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  • 29. CHARGE and Kabuki syndromes: a phenotypic and molecular link.
    Schulz Y, Freese L, Mänz J, Zoll B, Völter C, Brockmann K, Bögershausen N, Becker J, Wollnik B, Pauli S.
    Hum Mol Genet; 2014 Aug 15; 23(16):4396-405. PubMed ID: 24705355
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  • 30. Partial trisomy 4q and monosomy 9p resulting from a familial translocation t(4;9)(q27;p24) in a child with choanal atresia.
    Wouters CH, van Bodegom TM, Moll HA, Govaerts LC.
    Ann Genet; 1999 Aug 15; 42(3):160-5. PubMed ID: 10526659
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  • 31. 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
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  • 32. 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 31; 74(1):31-8. PubMed ID: 18445044
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  • 33. Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes.
    Meisner JK, Martin DM.
    Am J Med Genet C Semin Med Genet; 2020 Mar 31; 184(1):81-89. PubMed ID: 31833191
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  • 34. A case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism.
    Umino S, Kitamura M, Katoh-Fukui Y, Fukami M, Usui T, Yatsuga S, Koga Y.
    Mol Genet Genomic Med; 2019 Jun 31; 7(6):e730. PubMed ID: 31060112
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  • 37. 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 31; 85(2):201-2. PubMed ID: 23495722
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  • 38. 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 31; 170A(2):344-354. PubMed ID: 26590800
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  • 39. Karyotype-phenotype correlation in partial trisomies of the short arm of chromosome 6: a family case report and review of the literature.
    Castiglione A, Guaran V, Astolfi L, Orioli E, Zeri G, Gemmati D, Bovo R, Montaldi A, Alghisi A, Martini A.
    Cytogenet Genome Res; 2013 Feb 31; 141(4):243-59. PubMed ID: 23942271
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  • 40. Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.
    Delahaye A, Sznajer Y, Lyonnet S, Elmaleh-Bergès M, Delpierre I, Audollent S, Wiener-Vacher S, Mansbach AL, Amiel J, Baumann C, Bremond-Gignac D, Attié-Bitach T, Verloes A, Sanlaville D.
    Clin Genet; 2007 Aug 31; 72(2):112-21. PubMed ID: 17661815
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