BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

144 related articles for article (PubMed ID: 21150135)

  • 21. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.
    Tasse C; Böhringer S; Fischer S; Lüdecke HJ; Albrecht B; Horn D; Janecke A; Kling R; König R; Lorenz B; Majewski F; Maeyens E; Meinecke P; Mitulla B; Mohr C; Preischl M; Umstadt H; Kohlhase J; Gillessen-Kaesbach G; Wieczorek D
    Eur J Med Genet; 2005; 48(4):397-411. PubMed ID: 16378924
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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; 22(1):395-400. PubMed ID: 28534125
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS).
    Zamariolli M; Colovati M; Moysés-Oliveira M; Nunes N; Caires Dos Santos L; Alvarez Perez AB; Bragagnolo S; Melaragno MI
    Mol Genet Genomic Med; 2019 Oct; 7(10):e00959. PubMed ID: 31469246
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Syndromes of the first and second pharyngeal arches: A review.
    Passos-Bueno MR; Ornelas CC; Fanganiello RD
    Am J Med Genet A; 2009 Aug; 149A(8):1853-9. PubMed ID: 19610085
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Proposed clinical approach and imaging studies in families with oculo-auriculo-vertebral spectrum to assess variable expressivity.
    Estandia-Ortega B; Fernández-Hernández L; Alcántara-Ortigoza MA; González-Del Angel A
    Am J Med Genet A; 2022 May; 188(5):1515-1525. PubMed ID: 35119197
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Central nervous system abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).
    Rosa RF; Graziadio C; Lenhardt R; Alves RP; Paskulin GA; Zen PR
    Arq Neuropsiquiatr; 2010 Feb; 68(1):98-102. PubMed ID: 20339662
    [TBL] [Abstract][Full Text] [Related]  

  • 27. The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes.
    Estandia-Ortega B; Reyna-Fabián ME; Velázquez-Aragón JA; González-Del Angel A; Fernández-Hernández L; Alcántara-Ortigoza MA
    Life (Basel); 2022 Oct; 12(11):. PubMed ID: 36362878
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2.
    Digilio MC; McDonald-McGinn DM; Heike C; Catania C; Dallapiccola B; Marino B; Zackai EH
    Am J Med Genet A; 2009 Dec; 149A(12):2860-4. PubMed ID: 19890921
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Autosomal dominant inherited oculo-auriculo-vertebral spectrum: report of one family.
    Tsai FJ; Tsai CH
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1993; 34(1):27-31. PubMed ID: 8333284
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS.
    Tingaud-Sequeira A; Trimouille A; Marlin S; Lopez E; Berenguer M; Gherbi S; Arveiler B; Lacombe D; Rooryck C
    Mol Genet Genomic Med; 2020 Oct; 8(10):e1375. PubMed ID: 32738032
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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; 146A(14):1815-9. PubMed ID: 18553555
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: a unique double rearrangement.
    Torti EE; Braddock SR; Bernreuter K; Batanian JR
    Am J Med Genet A; 2013 Aug; 161A(8):1992-8. PubMed ID: 23894059
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum.
    Güleray N; Koşukcu C; Oğuz S; Ürel Demir G; Taşkıran EZ; Kiper PÖŞ; Utine GE; Alanay Y; Boduroğlu K; Alikaşifoğlu M
    Cleft Palate Craniofac J; 2022 Sep; 59(9):1114-1124. PubMed ID: 34410171
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum.
    Fischer S; Lüdecke HJ; Wieczorek D; Böhringer S; Gillessen-Kaesbach G; Horsthemke B
    Hum Mol Genet; 2006 Feb; 15(4):581-7. PubMed ID: 16407370
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Oculo-auriculo-vertebral spectrum and the CHARGE association: clinical evidence for a common pathogenetic mechanism.
    Van Meter TD; Weaver DD
    Clin Dysmorphol; 1996 Jul; 5(3):187-96. PubMed ID: 8818446
    [TBL] [Abstract][Full Text] [Related]  

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

  • 37. Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome.
    Wieczorek D; Ludwig M; Boehringer S; Jongbloet PH; Gillessen-Kaesbach G; Horsthemke B
    Hum Genet; 2007 May; 121(3-4):369-76. PubMed ID: 17297623
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A novel de novo mutation in MYT1, the unique OAVS gene identified so far.
    Berenguer M; Tingaud-Sequeira A; Colovati M; Melaragno MI; Bragagnolo S; Perez ABA; Arveiler B; Lacombe D; Rooryck C
    Eur J Hum Genet; 2017 Sep; 25(9):1083-1086. PubMed ID: 28612832
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings.
    Glaeser AB; Diniz BL; Santos AS; Guaraná BB; Muniz VF; Carlotto BS; Everling EM; Noguchi PY; Garcia AR; Miola J; Riegel M; Mergener R; Gazzola Zen PR; Machado Rosa RF
    Eur J Med Genet; 2021 Nov; 64(11):104319. PubMed ID: 34474176
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Mutations in
    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; 53(11):752-760. PubMed ID: 27358179
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.