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Journal Abstract Search

134 related items for PubMed ID: 36708132

  • 21. CHD7 gene and non-syndromic cleft lip and palate.
    Félix TM, Hanshaw BC, Mueller R, Bitoun P, Murray JC.
    Am J Med Genet A; 2006 Oct 01; 140(19):2110-4. PubMed ID: 16763960
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  • 22. 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 01; 72(2):112-21. PubMed ID: 17661815
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  • 23. Identification of one novel CHD7 mutation in a patient from China with atypical CHARGE syndrome.
    Cheng J, Ma D, Wu Y, Luo C, Huang C, Hu P, Zhang J, Jiang T, Xu Z.
    Gene; 2015 Oct 25; 571(2):298-302. PubMed ID: 26187070
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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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  • 25. 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 26; 9(10):690-4. PubMed ID: 18073582
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  • 29. 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 26; 33(8):1149-60. PubMed ID: 22461308
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  • 32. 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 26; 185(7):2160-2163. PubMed ID: 33844462
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  • 34. A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip-palate cleft: A case report and expansion of the phenotype.
    Papingi D, Bierhals T, Volk AE, Kutsche M, Paul K, Herget T.
    Am J Med Genet A; 2024 May 26; 194(5):e63515. PubMed ID: 38135897
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  • 36. Antenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature.
    Biard JM, Payrat S, Clapuyt P, Barrea C, Benoit V, Baldin P, Bernard P, Van Grambezen B, Sznajer Y.
    Eur J Med Genet; 2021 Apr 26; 64(4):104189. PubMed ID: 33662639
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  • 39. Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes.
    Gowans LJJ, Al Dhaheri N, Li M, Busch T, Obiri-Yeboah S, Oti AA, Sabbah DK, Arthur FKN, Awotoye WO, Alade AA, Twumasi P, Agbenorku P, Plange-Rhule G, Naicker T, Donkor P, Murray JC, Sobreira NLM, Butali A.
    Mol Genet Genomic Med; 2021 Apr 26; 9(4):e1655. PubMed ID: 33719213
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  • 40. 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 26; 20(8):872-881. PubMed ID: 29144511
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