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Journal Abstract Search

117 related items for PubMed ID: 27144914

  • 1. Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.
    Vogel M, Velleuer E, Schmidt-Jiménez LF, Mayatepek E, Borkhardt A, Alawi M, Kutsche K, Kortüm F.
    Am J Med Genet A; 2016 Jul; 170(7):1813-9. PubMed ID: 27144914
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  • 2. A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresis.
    Sahin Y, Güngör O, Ayaz A, Güngör G, Sahin B, Yaykasli K, Ceylaner S.
    Brain Dev; 2017 Feb; 39(2):166-170. PubMed ID: 27640920
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  • 3. A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations.
    Uyguner ZO, Toksoy G, Altunoglu U, Ozgur H, Basaran S, Kayserili H.
    Eur J Med Genet; 2015 Feb; 58(6-7):358-63. PubMed ID: 26007620
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  • 4. Two novel compound heterozygous HOXB1 variants in congenital facial palsy: A case report and a brief review of the literature.
    Brugnoli C, Rizzi S, Cesaroni CA, Spagnoli C, Pregnolato G, Caraffi SG, Napoli M, Pascarella R, Zuntini R, Peluso F, Garavelli L, Chiarotto E, Leon A, Frattini D, Fusco C.
    Am J Med Genet A; 2025 Jan; 197(1):e63848. PubMed ID: 39235314
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  • 5. A Novel Loss-of-Function Mutation in HOXB1 Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family.
    Vahidi Mehrjardi MY, Maroofian R, Kalantar SM, Jaafarinia M, Chilton J, Dehghani M.
    Mol Syndromol; 2017 Aug; 8(5):261-265. PubMed ID: 28878610
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  • 6. Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes.
    Michielse CB, Bhat M, Brady A, Jafrid H, van den Hurk JA, Raashid Y, Brunner HG, van Bokhoven H, Padberg GW.
    Eur J Hum Genet; 2006 Dec; 14(12):1306-12. PubMed ID: 16912702
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  • 7. Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse.
    van der Zwaag B, Burbach JP, Scharfe C, Oefner PJ, Brunner HG, Padberg GW, van Bokhoven H.
    Genomics; 2005 Jul; 86(1):55-67. PubMed ID: 15953540
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  • 9. In silico identification of new candidate genes for hereditary congenital facial paresis.
    Tomás-Roca L, Pérez-Aytés A, Puelles L, Marín F.
    Int J Dev Neurosci; 2011 Jun; 29(4):451-60. PubMed ID: 21345367
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  • 12. Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.
    Lehky T, Joseph R, Toro C, Wu T, Van Ryzin C, Gropman A, Facio FM, Webb BD, Jabs EW, Barry BS, Engle EC, Collins FS, Manoli I, Moebius Syndrome Research Consortium.
    Muscle Nerve; 2021 Apr; 63(4):516-524. PubMed ID: 33389762
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  • 13. A family with hereditary congenital facial paresis and a brief review of the literature.
    Alrashdi IS, Rich P, Patton MA.
    Clin Dysmorphol; 2010 Oct; 19(4):198-201. PubMed ID: 20577083
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  • 14. The congenital cranial dysinnervation disorders.
    Gutowski NJ, Chilton JK.
    Arch Dis Child; 2015 Jul; 100(7):678-81. PubMed ID: 25633065
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  • 16. A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
    Fazeli W, Herkenrath P, Stiller B, Neugebauer A, Fricke J, Lang-Roth R, Nürnberg G, Thoenes M, Becker J, Altmüller J, Volk AE, Kubisch C, Heller R.
    Hum Mol Genet; 2017 Oct 15; 26(20):4055-4066. PubMed ID: 29016863
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