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Journal Abstract Search

168 related items for PubMed ID: 35015423

  • 21. Expanding the Etiology of Oculo-Auriculo-Vertebral Spectrum: A Novel Interstitial Microdeletion at 1p36.
    García-Castro M, Martinez-Merino T, Puente N, Riancho JA.
    Int J Mol Sci; 2022 Dec 20; 24(1):. PubMed ID: 36613479
    [Abstract] [Full Text] [Related]

  • 22. Goldenhar Syndrome - ophthalmologist's perspective.
    Schmitzer S, Burcel M, Dăscălescu D, Popteanu IC.
    Rom J Ophthalmol; 2018 Dec 20; 62(2):96-104. PubMed ID: 30206552
    [Abstract] [Full Text] [Related]

  • 23. Goldenhar Syndrome Complicated by Hemifacial Microsomia and Unilateral Cleft Palate Absence.
    Chen H, Shen W.
    J Craniofac Surg; 2024 Sep 17. PubMed ID: 39287405
    [Abstract] [Full Text] [Related]

  • 24. Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3.
    Trimouille A, Tingaud-Sequeira A, Lacombe D, Duelund Hjortshøj T, Kreiborg S, Buciek Hove H, Rooryck C.
    Clin Genet; 2020 Oct 17; 98(4):384-389. PubMed ID: 32639022
    [Abstract] [Full Text] [Related]

  • 25. A new association of Oculoauriculovertebral spectrum and persistent fifth aortic arch -double lumen aorta: a case report.
    Balaban İ, Bilgici MC, Baysal K.
    BMC Pediatr; 2022 Feb 21; 22(1):102. PubMed ID: 35189859
    [Abstract] [Full Text] [Related]

  • 26. Prevalence of Oculo-auriculo-vertebral Spectrum in Dermolipoma.
    Khong JJ, Hardy TG, McNab AA.
    Ophthalmology; 2013 Aug 21; 120(8):1529-32. PubMed ID: 23683920
    [Abstract] [Full Text] [Related]

  • 27. Clinical features of 149 patients with facio-auriculo-vertebral spectrum.
    Muñoz-Pedroza LA, Arenas-Sordo ML.
    Acta Otorrinolaringol Esp; 2013 Aug 21; 64(5):359-62. PubMed ID: 23896491
    [Abstract] [Full Text] [Related]

  • 28. Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update.
    Beleza-Meireles A, Clayton-Smith J, Saraiva JM, Tassabehji M.
    J Med Genet; 2014 Oct 21; 51(10):635-45. PubMed ID: 25118188
    [Abstract] [Full Text] [Related]

  • 29. Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review.
    Spineli-Silva S, Bispo LM, Gil-da-Silva-Lopes VL, Vieira TP.
    Eur J Med Genet; 2018 May 21; 61(5):262-268. PubMed ID: 29288792
    [Abstract] [Full Text] [Related]

  • 30. Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).
    Digilio MC, Calzolari F, Capolino R, Toscano A, Sarkozy A, de Zorzi A, Dallapiccola B, Marino B.
    Am J Med Genet A; 2008 Jul 15; 146A(14):1815-9. PubMed ID: 18553555
    [Abstract] [Full Text] [Related]

  • 31. Goldenhar syndrome (oculo-auriculo-vertebral spectrum): Findings on cone beam computed tomography-3 case reports.
    Maryanchik I, Nair MK.
    Oral Surg Oral Med Oral Pathol Oral Radiol; 2018 Oct 15; 126(4):e233-e239. PubMed ID: 29857980
    [Abstract] [Full Text] [Related]

  • 32. Salivary glands abnormalities in oculo-auriculo-vertebral spectrum.
    Brotto D, Manara R, Vio S, Ghiselli S, Cantone E, Mardari R, Toldo I, Stritoni V, Castiglione A, Lovo E, Trevisi P, Bovo R, Martini A.
    Clin Oral Investig; 2018 Jan 15; 22(1):395-400. PubMed ID: 28534125
    [Abstract] [Full Text] [Related]

  • 33. Oculo-Auriculo-Vertebral Dysplasia With Craniocervical Instability and Occult Tethered Cord Syndrome. An Addition to the Spectrum? First Case Report and Review of the Literature.
    Hansen-Algenstaedt N, Liem M, Khalifah S, Giese A, Gutenberg A.
    J Am Acad Orthop Surg Glob Res Rev; 2019 Jul 15; 3(7):e805. PubMed ID: 31579884
    [Abstract] [Full Text] [Related]

  • 34. Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.
    Barisic I, Odak L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Arriola L, Bergman J, Bianca S, Doray B, Khoshnood B, Klungsoyr K, McDonnell B, Pierini A, Rankin J, Rissmann A, Rounding C, Queisser-Luft A, Scarano G, Tucker D.
    Eur J Hum Genet; 2014 Aug 15; 22(8):1026-33. PubMed ID: 24398798
    [Abstract] [Full Text] [Related]

  • 35. Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.
    Tingaud-Sequeira A, Trimouille A, Sagardoy T, Lacombe D, Rooryck C.
    J Med Genet; 2022 May 15; 59(5):417-427. PubMed ID: 35110414
    [Abstract] [Full Text] [Related]

  • 36. Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).
    Rosa RFM, da Silva AP, Goetze TB, de Almeida Bier B, de Almeida ST, Paskulin GA, Zen PRG.
    Braz J Otorhinolaryngol; 2011 May 15; 77(4):455-460. PubMed ID: 21860971
    [Abstract] [Full Text] [Related]

  • 37. Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS.
    Lopez E, Berenguer M, Tingaud-Sequeira A, Marlin S, Toutain A, Denoyelle F, Picard A, Charron S, Mathieu G, de Belvalet H, Arveiler B, Babin PJ, Lacombe D, Rooryck C.
    J Med Genet; 2016 Nov 15; 53(11):752-760. PubMed ID: 27358179
    [Abstract] [Full Text] [Related]

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  • 39. Maxillofacial features and systemic malformations in expanded spectrum Hemifacial Microsomia.
    Cohen N, Cohen E, Gaiero A, Zecca S, Fichera G, Baldi F, Giordanetto JF, Mercier JM, Cohen A.
    Am J Med Genet A; 2017 May 15; 173(5):1208-1218. PubMed ID: 28319315
    [Abstract] [Full Text] [Related]

  • 40. Cranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum.
    Manara R, Brotto D, Ghiselli S, Mardari R, Toldo I, Schifano G, Cantone E, Bovo R, Martini A.
    AJNR Am J Neuroradiol; 2015 Jul 15; 36(7):1375-80. PubMed ID: 25814660
    [Abstract] [Full Text] [Related]

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