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Journal Abstract Search

191 related items for PubMed ID: 33389762

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis.
    Camacho A, Martínez B, Alvarez S, Gil-Fournier B, Ramiro S, Hernández-Laín A, Núñez N, Simón R.
    J Neuromuscul Dis; 2020 Apr; 7(3):309-313. PubMed ID: 32333597
    [Abstract] [Full Text] [Related]

  • 3. Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
    Telegrafi A, Webb BD, Robbins SM, Speck-Martins CE, FitzPatrick D, Fleming L, Redett R, Dufke A, Houge G, van Harssel JJT, Verloes A, Robles A, Manoli I, Engle EC, Moebius Syndrome Research Consortium, Jabs EW, Valle D, Carey J, Hoover-Fong JE, Sobreira NLM.
    Am J Med Genet A; 2017 Oct; 173(10):2763-2771. PubMed ID: 28777491
    [Abstract] [Full Text] [Related]

  • 4. Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness.
    Liberton DK, Almpani K, Mishra R, Bassim C, Van Ryzin C, On Behalf Of The Moebius Syndrome Research Consortium, Webb BD, Jabs EW, Engle EC, Collins FS, Manoli I, Lee JS.
    Int J Environ Res Public Health; 2024 May 13; 21(5):. PubMed ID: 38791829
    [Abstract] [Full Text] [Related]

  • 5. An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
    Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM.
    Cold Spring Harb Mol Case Stud; 2017 Mar 13; 3(2):a000984. PubMed ID: 28299356
    [Abstract] [Full Text] [Related]

  • 6. 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 Mar 13; 58(6-7):358-63. PubMed ID: 26007620
    [Abstract] [Full Text] [Related]

  • 7. Temporomandibular joint ankylosis as part of the clinical spectrum of Carey-Fineman-Ziter syndrome?
    Pasetti M, Mazzoleni F, Novelli G, Iascone M, Bozzetti A, Selicorni A.
    Am J Med Genet A; 2016 Aug 13; 170(8):2191-5. PubMed ID: 27232676
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  • 9. 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 13; 39(2):166-170. PubMed ID: 27640920
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  • 11. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
    Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN, Moebius Syndrome Research Consortium, Carey JC, Robertson SP, Manoli I, Engle EC.
    Nat Commun; 2017 Jul 06; 8():16077. PubMed ID: 28681861
    [Abstract] [Full Text] [Related]

  • 12. 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 06; 170(7):1813-9. PubMed ID: 27144914
    [Abstract] [Full Text] [Related]

  • 13. Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome.
    Gates RW, Webb BD, Stevenson DA, Jabs EW, DeFilippo C, Ruzhnikov MRZ, Tise CG.
    Am J Med Genet A; 2023 Nov 06; 191(11):2743-2748. PubMed ID: 37675855
    [Abstract] [Full Text] [Related]

  • 14. Physiopathologic Bases of Moebius Syndrome: Combining Genetic, Vascular, and Teratogenic Theories.
    López Gutierrez D, Luna López I, Medina Mata BA, Moreno Castro S, García Rangel FY.
    Pediatr Neurol; 2024 Apr 06; 153():1-10. PubMed ID: 38306744
    [Abstract] [Full Text] [Related]

  • 15. Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.
    MacKinnon S, Oystreck DT, Andrews C, Chan WM, Hunter DG, Engle EC.
    Ophthalmology; 2014 Jul 06; 121(7):1461-8. PubMed ID: 24612975
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  • 17. A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
    Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF, Jabs EW, Hunter DG, Grant PE, Engle EC.
    Brain; 2013 Feb 06; 136(Pt 2):522-35. PubMed ID: 23378218
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  • 19. A family with hereditary congenital facial paresis and a brief review of the literature.
    Alrashdi IS, Rich P, Patton MA.
    Clin Dysmorphol; 2010 Oct 06; 19(4):198-201. PubMed ID: 20577083
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