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Volumn 58, Issue 9, 2015, Pages 455-465

Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients

(23)  Beleza Meireles, Ana a,b   Hart, Rachel b,c   Clayton Smith, Jill b,d   Oliveira, Renata a   Reis, Cláudia Falcão a   Venâncio, Margarida a   Ramos, Fabiana a   Sá, Joaquim a   Ramos, Lina a   Cunha, Elizabete e   Pires, Luís Miguel f   Carreira, Isabel Marques f   Scholey, Rachel b   Wright, Ronnie d   Urquhart, Jill E d   Briggs, Tracy A b   Kerr, Bronwyn b   Kingston, Helen b   Metcalfe, Kay b   Donnai, Dian b   more..


Author keywords

Copy number variation; First and second branchial arch; Goldenhar syndrome; Hemifacial microsomia; Oculoauriculovertebral spectrum; Preauricular tags

Indexed keywords

OLIGONUCLEOTIDE;

EID: 84946720817     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2015.07.003     Document Type: Article
Times cited : (81)

References (55)
  • 1
    • 79952484540 scopus 로고    scopus 로고
    • 1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay
    • Abdelmoity A.T., Hall J.J., Bittel D.C., Yu S. 1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay. Eur. J. Med. Genet. 2011, 54(2):198-203.
    • (2011) Eur. J. Med. Genet. , vol.54 , Issue.2 , pp. 198-203
    • Abdelmoity, A.T.1    Hall, J.J.2    Bittel, D.C.3    Yu, S.4
  • 2
    • 55449119130 scopus 로고    scopus 로고
    • Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly
    • Ala-Mello S., Siggberg L., Knuutila S., von Koskull H., Taskinen M., Peippo M. Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly. Am. J. Med. Genet. A 2008, 146A(19):2490-2494.
    • (2008) Am. J. Med. Genet. A , vol.146A , Issue.19 , pp. 2490-2494
    • Ala-Mello, S.1    Siggberg, L.2    Knuutila, S.3    von Koskull, H.4    Taskinen, M.5    Peippo, M.6
  • 5
    • 84911416091 scopus 로고    scopus 로고
    • Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update
    • Beleza-Meireles A., Clayton-Smith J., Saraiva J.M., Tassabehji M. Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update. J. Med. Genet. 2014, 51(10):635-645.
    • (2014) J. Med. Genet. , vol.51 , Issue.10 , pp. 635-645
    • Beleza-Meireles, A.1    Clayton-Smith, J.2    Saraiva, J.M.3    Tassabehji, M.4
  • 7
    • 58649117974 scopus 로고    scopus 로고
    • The facial phenotype of the velo-cardio-facial syndrome
    • Butts S.C. The facial phenotype of the velo-cardio-facial syndrome. Int. J. Pediatr. Otorhinolaryngol. 2009, 73(3):343-350.
    • (2009) Int. J. Pediatr. Otorhinolaryngol. , vol.73 , Issue.3 , pp. 343-350
    • Butts, S.C.1
  • 8
    • 49449116233 scopus 로고    scopus 로고
    • Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome
    • Callier P., Faivre L., Thauvin-Robinet C., Marle N., Mosca A.L., D'Athis P., Guy J., Masurel-Paulet A., Joly L., Guiraud S., Teyssier J.R., Huet F., Mugneret F. Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome. Am. J. Med. Genet. A 2008, 146A(16):2109-2115.
    • (2008) Am. J. Med. Genet. A , vol.146A , Issue.16 , pp. 2109-2115
    • Callier, P.1    Faivre, L.2    Thauvin-Robinet, C.3    Marle, N.4    Mosca, A.L.5    D'Athis, P.6    Guy, J.7    Masurel-Paulet, A.8    Joly, L.9    Guiraud, S.10    Teyssier, J.R.11    Huet, F.12    Mugneret, F.13
  • 9
    • 84893535578 scopus 로고    scopus 로고
    • Characterization of facial paresis in hemifacial microsomia
    • Cline J.M., Hicks K.E., Patel K.G. Characterization of facial paresis in hemifacial microsomia. Otolaryngol. Head. Neck Surg. 2014, 150(2):188-193.
    • (2014) Otolaryngol. Head. Neck Surg. , vol.150 , Issue.2 , pp. 188-193
    • Cline, J.M.1    Hicks, K.E.2    Patel, K.G.3
  • 10
    • 0030815739 scopus 로고    scopus 로고
    • Current concepts in the understanding and management of hemifacial microsomia
    • Cousley R.R., Calvert M.L. Current concepts in the understanding and management of hemifacial microsomia. Br. J. Plast. Surg. 1997, 50:536-551.
    • (1997) Br. J. Plast. Surg. , vol.50 , pp. 536-551
    • Cousley, R.R.1    Calvert, M.L.2
  • 15
    • 0020369559 scopus 로고
    • The external ear, mandible and other components of hemifacial microsomia
    • Figueroa A.A., Pruzansky S. The external ear, mandible and other components of hemifacial microsomia. J. Maxillofac. Surg. 1982, 10(4):200-211.
    • (1982) J. Maxillofac. Surg. , vol.10 , Issue.4 , pp. 200-211
    • Figueroa, A.A.1    Pruzansky, S.2
  • 17
    • 61749089126 scopus 로고    scopus 로고
    • Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1
    • Goodin K., Prucka S., Woolley A.L., Kohlhase J., Smith R.J., Grant J., Robin N.H. Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1. Am. J. Med. Genet. A 2009, 149A(3):535-538.
    • (2009) Am. J. Med. Genet. A , vol.149A , Issue.3 , pp. 535-538
    • Goodin, K.1    Prucka, S.2    Woolley, A.L.3    Kohlhase, J.4    Smith, R.J.5    Grant, J.6    Robin, N.H.7
  • 18
    • 84885188208 scopus 로고    scopus 로고
    • Impacts of variation in the human genome on gene regulation
    • Haraksingh R.R., Snyder M.P. Impacts of variation in the human genome on gene regulation. J. Mol. Biol. 2013, 425(21):3970-3977.
    • (2013) J. Mol. Biol. , vol.425 , Issue.21 , pp. 3970-3977
    • Haraksingh, R.R.1    Snyder, M.P.2
  • 19
    • 84857440288 scopus 로고    scopus 로고
    • Craniofacial microsomia overview
    • University of Washington, Seattle, Seattle (WA), R.A. Pagon, M.P. Adam, H.H. Ardinger, T.D. Bird, C.R. Dolan, C.T. Fong, R.J.H. Smith, K. Stephens (Eds.)
    • ® [Internet] 2009, University of Washington, Seattle, Seattle (WA). R.A. Pagon, M.P. Adam, H.H. Ardinger, T.D. Bird, C.R. Dolan, C.T. Fong, R.J.H. Smith, K. Stephens (Eds.).
    • (2009) ® [Internet]
    • Heike, C.L.1    Hing, A.V.2
  • 21
    • 0023987239 scopus 로고
    • Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q)
    • Herman G.E., Greenberg F., Ledbetter D.H. Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q). Am. J. Med. Genet. 1988, 29(4):909-915.
    • (1988) Am. J. Med. Genet. , vol.29 , Issue.4 , pp. 909-915
    • Herman, G.E.1    Greenberg, F.2    Ledbetter, D.H.3
  • 26
    • 80052729161 scopus 로고    scopus 로고
    • Copy-number variations, noncoding sequences, and human phenotypes
    • Klopocki E., Mundlos S. Copy-number variations, noncoding sequences, and human phenotypes. Annu. Rev. Genomics Hum. Genet. 2011, 22(12):53-72.
    • (2011) Annu. Rev. Genomics Hum. Genet. , vol.22 , Issue.12 , pp. 53-72
    • Klopocki, E.1    Mundlos, S.2
  • 27
    • 0029056656 scopus 로고
    • Epidemiology and genetics of microtia-anotia: a registry based study on over one million births
    • Mastroiacovo P., Corchia C., Botto L.D., Lanni R., Zampino G., Fusco D. Epidemiology and genetics of microtia-anotia: a registry based study on over one million births. J. Med. Genet. 1995, 32(6):453-457.
    • (1995) J. Med. Genet. , vol.32 , Issue.6 , pp. 453-457
    • Mastroiacovo, P.1    Corchia, C.2    Botto, L.D.3    Lanni, R.4    Zampino, G.5    Fusco, D.6
  • 29
    • 0019252623 scopus 로고
    • The etiology of external ear malformations and its relation to abnormalities of the middle ear, inner ear, and other organ systems
    • Melnick M. The etiology of external ear malformations and its relation to abnormalities of the middle ear, inner ear, and other organ systems. Birth Defects Orig. Artic. Ser. 1980, 16(4):303-331.
    • (1980) Birth Defects Orig. Artic. Ser. , vol.16 , Issue.4 , pp. 303-331
    • Melnick, M.1
  • 32
    • 67349189512 scopus 로고    scopus 로고
    • Microduplication 22q11.2: a new chromosomal syndrome
    • Portnoï M.F. Microduplication 22q11.2: a new chromosomal syndrome. Eur. J. Med. Genet. 2009, 52(2-3):88-93.
    • (2009) Eur. J. Med. Genet. , vol.52 , Issue.2-3 , pp. 88-93
    • Portnoï, M.F.1
  • 33
    • 84880744073 scopus 로고    scopus 로고
    • Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry
    • Quintero-Rivera F., Martinez-Agosto J.A. Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry. Am. J. Med. Genet. A 2013, 161(8):1985-1991.
    • (2013) Am. J. Med. Genet. A , vol.161 , Issue.8 , pp. 1985-1991
    • Quintero-Rivera, F.1    Martinez-Agosto, J.A.2
  • 35
    • 0020631024 scopus 로고
    • Hemifacial microsomia and variants: pedigree data
    • Rollnick B.R., Kaye C.I. Hemifacial microsomia and variants: pedigree data. Am. J. Med. Genet. 1983, 15(2):233-253.
    • (1983) Am. J. Med. Genet. , vol.15 , Issue.2 , pp. 233-253
    • Rollnick, B.R.1    Kaye, C.I.2
  • 36
    • 0022876636 scopus 로고
    • Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients
    • Rollnick B.R., Kaye C.I., Nagatoshi K., Hauck W., Martin A.O. Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients. Am. J. Med. Genet. 1987, 26(2):361-375.
    • (1987) Am. J. Med. Genet. , vol.26 , Issue.2 , pp. 361-375
    • Rollnick, B.R.1    Kaye, C.I.2    Nagatoshi, K.3    Hauck, W.4    Martin, A.O.5
  • 37
  • 39
    • 77950628075 scopus 로고    scopus 로고
    • Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum
    • Rooryck C., VuPhi Y., Souakri N., Burgelin I., Saura R., Lacombe D., Arveiler B., Taine L. Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum. Eur. J. Med. Genet. 2010, 53:104-107.
    • (2010) Eur. J. Med. Genet. , vol.53 , pp. 104-107
    • Rooryck, C.1    VuPhi, Y.2    Souakri, N.3    Burgelin, I.4    Saura, R.5    Lacombe, D.6    Arveiler, B.7    Taine, L.8
  • 40
    • 0034791061 scopus 로고    scopus 로고
    • Phenotypic variability of the cat eye syndrome. Case report and review of the literature
    • Rosias P.R., et al. Phenotypic variability of the cat eye syndrome. Case report and review of the literature. Genet. Couns. 2001, 12(3):237-282.
    • (2001) Genet. Couns. , vol.12 , Issue.3 , pp. 237-282
    • Rosias, P.R.1
  • 43
    • 84946743485 scopus 로고    scopus 로고
    • Cleft lip and/or palate and auricular malformations
    • Suutarla S., Rautio J., Klockars T. Cleft lip and/or palate and auricular malformations. J. Craniofac. Surg. 2014 Jan, 25(1):177-183.
    • (2014) J. Craniofac. Surg. , vol.25 , Issue.1 , pp. 177-183
    • Suutarla, S.1    Rautio, J.2    Klockars, T.3
  • 47
    • 84880758114 scopus 로고    scopus 로고
    • Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: a unique double rearrangement
    • Torti E.E., Braddock S.R., Bernreuter K., Batanian J.R. Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: a unique double rearrangement. Am. J. Med. Genet. A 2013, 161(8):1992-1998.
    • (2013) Am. J. Med. Genet. A , vol.161 , Issue.8 , pp. 1992-1998
    • Torti, E.E.1    Braddock, S.R.2    Bernreuter, K.3    Batanian, J.R.4
  • 48
    • 0027509916 scopus 로고
    • Autosomal dominant inherited oculo-auriculo-vertebral spectrum: report of one family
    • Tsai F.J., Tsai C.H. Autosomal dominant inherited oculo-auriculo-vertebral spectrum: report of one family. Zhonghua Min. Guo Xiao Er Ke Yi Xue Hui Za Zhi 1993, 34(1):27-31.
    • (1993) Zhonghua Min. Guo Xiao Er Ke Yi Xue Hui Za Zhi , vol.34 , Issue.1 , pp. 27-31
    • Tsai, F.J.1    Tsai, C.H.2
  • 50
    • 66149108858 scopus 로고    scopus 로고
    • Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature
    • Vendramini-Pittoli, Kokitsu-Nakata Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature. Clin. Dysmorphol. 2009, 18:67-77.
    • (2009) Clin. Dysmorphol. , vol.18 , pp. 67-77
    • Vendramini-Pittoli1    Kokitsu-Nakata2
  • 53
    • 0021071161 scopus 로고
    • Trisomy 9 mosaicism: another etiology for the manifestations of Goldenhar syndrome
    • Wilson G.N., Barr M. Trisomy 9 mosaicism: another etiology for the manifestations of Goldenhar syndrome. J. Craniofac. Genet. Dev. Biol. 1983, 3(4):313-316.
    • (1983) J. Craniofac. Genet. Dev. Biol. , vol.3 , Issue.4 , pp. 313-316
    • Wilson, G.N.1    Barr, M.2
  • 54
    • 47349088397 scopus 로고    scopus 로고
    • A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: is this a candidate region for the syndrome?
    • Xu J., Fan Y.S., Siu V.M. A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: is this a candidate region for the syndrome?. Am. J. Med. Genet. A 2008, 146A(14):1886-1889.
    • (2008) Am. J. Med. Genet. A , vol.146A , Issue.14 , pp. 1886-1889
    • Xu, J.1    Fan, Y.S.2    Siu, V.M.3


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