메뉴 건너뛰기




Volumn 125, Issue 3, 2010, Pages 979-987

Pedigree and genetic study of a bilateral congenital microtia family

Author keywords

[No Author keywords available]

Indexed keywords

FGF3 PROTEIN, HUMAN; FIBROBLAST GROWTH FACTOR 3; GOOSECOID PROTEIN; GSC PROTEIN, HUMAN; PRIMER DNA;

EID: 77749315884     PISSN: 00321052     EISSN: None     Source Type: Journal    
DOI: 10.1097/PRS.0b013e3181ccdbba     Document Type: Article
Times cited : (12)

References (30)
  • 2
    • 0029056656 scopus 로고
    • Epidemiology and genetics of microtia-anotia: A registry based study on over one million births
    • Mastroiacovo P, Corchia C, Botto LD, Lanni R, Zampino G. Epidemiology and genetics of microtia-anotia: A registry based study on over one million births. J Med Genet. 1995; 32:453-457.
    • (1995) J Med Genet , vol.32 , pp. 453-457
    • Mastroiacovo, P.1    Corchia, C.2    Botto, L.D.3    Lanni, R.4    Zampino, G.5
  • 3
    • 0345517290 scopus 로고    scopus 로고
    • Microtia: A clinical and genetic study at the National Institute of Pediatrics in Mexico City
    • Llano-Rivas I, González-del Angel A, Carnevale A. Microtia: A clinical and genetic study at the National Institute of Pediatrics in Mexico City. Arch Med Res. 1999;30:120-124.
    • (1999) Arch Med Res , vol.30 , pp. 120-124
    • Llano-Rivas, I.1    González-Del Angel, A.2    Carnevale, A.3
  • 4
    • 0033428730 scopus 로고    scopus 로고
    • Trisomies 13 and 18: Prenatal diagnosis and epidemiologic studies in Hawaii, 1986-1997
    • Forrester MB, Merz RD. Trisomies 13 and 18: Prenatal diagnosis and epidemiologic studies in Hawaii, 1986-1997. Genet Test. 1999;3:335-340.
    • (1999) Genet Test , vol.3 , pp. 335-340
    • Forrester, M.B.1    Merz, R.D.2
  • 5
    • 18244364173 scopus 로고    scopus 로고
    • Hemifacial microsomia: Progress in understanding the genetic basis of a complex malformation syndrome
    • Kelberman D, Tyson J, Chandler DC, et al. Hemifacial microsomia: Progress in understanding the genetic basis of a complex malformation syndrome. Hum Genet. 2001;109:638-645.
    • (2001) Hum Genet , vol.109 , pp. 638-645
    • Kelberman, D.1    Tyson, J.2    Chandler, D.C.3
  • 6
    • 43449118688 scopus 로고    scopus 로고
    • Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia
    • Tekin M, Oztürkmen Akay H, Fitoz S, et al. Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. Clin Genet. 2008;73:554-565.
    • (2008) Clin Genet , vol.73 , pp. 554-565
    • Tekin, M.1    Oztürkmen Akay, H.2    Fitoz, S.3
  • 7
    • 33745598503 scopus 로고    scopus 로고
    • Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene
    • Su PH, Chen JY, Chen SJ, Yu JS. Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene. J Formos Med Assoc. 2006;105:518-521.
    • (2006) J Formos Med Assoc , vol.105 , pp. 518-521
    • Su, P.H.1    Chen, J.Y.2    Chen, S.J.3    Yu, J.S.4
  • 8
    • 16444369898 scopus 로고    scopus 로고
    • Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia
    • Thiel CT, Rosanowski F, Kohlhase J. Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia. Clin Dysmorphol. 2005;14:67-71.
    • (2005) Clin Dysmorphol , vol.14 , pp. 67-71
    • Thiel, C.T.1    Rosanowski, F.2    Kohlhase, J.3
  • 9
    • 0036047887 scopus 로고    scopus 로고
    • Clinical features, treatment and genetic background of treacher collins syndrome
    • Marszalek B, Wó jcicki P, Kobus K, Trzeciak WH. Clinical features, treatment and genetic background of Treacher Collins syndrome. J Appl Genet. 2002;43:223-233.
    • (2002) J Appl Genet , vol.43 , pp. 223-233
    • Marszalek, B.1    Wó Jcicki, P.2    Kobus, K.3    Trzeciak, W.H.4
  • 10
    • 41549169516 scopus 로고    scopus 로고
    • A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family
    • Alasti F, Sadeghi A, Sanati MH, et al. A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. Am J Hum Genet. 2008;82:982-991.
    • (2008) Am J Hum Genet , vol.82 , pp. 982-991
    • Alasti, F.1    Sadeghi, A.2    Sanati, M.H.3
  • 11
    • 40349113457 scopus 로고    scopus 로고
    • Cooperative function of Tbx1 and Brn4 in the periotic mesenchyme is necessary for cochlea formation
    • Braunstein EM, Crenshaw EB, Morrow BE, Adams JC. Cooperative function of Tbx1 and Brn4 in the periotic mesenchyme is necessary for cochlea formation. J Assoc Res Otolaryngol. 2008;9:33-43.
    • (2008) J Assoc Res Otolaryngol , vol.9 , pp. 33-43
    • Braunstein, E.M.1    Crenshaw, E.B.2    Morrow, B.E.3    Adams, J.C.4
  • 12
    • 37549041628 scopus 로고    scopus 로고
    • In utero exposure to mycophenolate mofetil: A characteristic phenotype?
    • Perez-Aytes A, Ledo A, Boso V, et al. In utero exposure to mycophenolate mofetil: A characteristic phenotype? Am J Med Genet A. 2008;146A:1-7.
    • (2008) Am J Med Genet A , vol.146 A , pp. 1-7
    • Perez-Aytes, A.1    Ledo, A.2    Boso, V.3
  • 13
    • 29544444827 scopus 로고    scopus 로고
    • Oculo-auriculo-vertebral spectrum (OAVS): Clinical evaluation and severity scoring of 53 patients and proposal for a new classification
    • Tasse C, Böhringer S, et al. Oculo-auriculo-vertebral spectrum (OAVS): Clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet. 2005;48:397-411.
    • (2005) Eur J Med Genet , vol.48 , pp. 397-411
    • Tasse, C.1    Böhringer, S.2
  • 15
    • 0029969832 scopus 로고    scopus 로고
    • The epidemiology of anotia and microtia
    • Harris J, Kallen B, Robert E. The epidemiology of anotia and microtia. J Med Genet. 1996;33:809-813.
    • (1996) J Med Genet , vol.33 , pp. 809-813
    • Harris, J.1    Kallen, B.2    Robert, E.3
  • 16
    • 0034169764 scopus 로고    scopus 로고
    • Congenital malformations in Shimla
    • Grover N. Congenital malformations in Shimla. Indian J Pediatr. 2000;67:249-251.
    • (2000) Indian J Pediatr , vol.67 , pp. 249-251
    • Grover, N.1
  • 17
    • 0042069854 scopus 로고    scopus 로고
    • A review of available data on the health of the Latino population in North Carolina
    • Buescher PA. A review of available data on the health of the Latino population in North Carolina.NCMed J 2003;64:97-105.
    • (2003) NCMed J , vol.64 , pp. 97-105
    • Buescher, P.A.1
  • 18
    • 16544380831 scopus 로고    scopus 로고
    • Rates for specific birth defects among native Hawaiians compared to whites, Hawaii 1986-2000
    • Forrester MB, Merz RD. Rates for specific birth defects among native Hawaiians compared to whites, Hawaii 1986-2000. Hawaii Med J. 2004;63:238-242.
    • (2004) Hawaii Med J , vol.63 , pp. 238-242
    • Forrester, M.B.1    Merz, R.D.2
  • 19
    • 3242891547 scopus 로고    scopus 로고
    • Epidemiologic characteristics of anotia and microtia in California,1989-1997
    • Shaw GM, Kaidarova Z. Epidemiologic characteristics of anotia and microtia in California, 1989-1997. Birth Defects Res A Clin Mol Teratol. 2004;70:472-475.
    • (2004) Birth Defects Res A Clin Mol Teratol , vol.70 , pp. 472-475
    • Shaw, G.M.1    Kaidarova, Z.2
  • 20
    • 0029862074 scopus 로고    scopus 로고
    • Heterogeneous rates for birth defects in Latin America: Hints on causality
    • Lopez-Camelo JS, Orioli IM. Heterogeneous rates for birth defects in Latin America: hints on causality. Genet Epidemiol. 1996;13:469-481.
    • (1996) Genet Epidemiol , vol.13 , pp. 469-481
    • Lopez-Camelo, J.S.1    Orioli, I.M.2
  • 21
    • 0033503555 scopus 로고    scopus 로고
    • Laterality patterns in infants with external birth defects
    • Paulozzi LJ, Lary JM. Laterality patterns in infants with external birth defects. Teratology 1999;60:265-271.
    • (1999) Teratology , vol.60 , pp. 265-271
    • Paulozzi, L.J.1    Lary, J.M.2
  • 22
    • 0028875671 scopus 로고
    • Achondrogenesis type II with polydactyly
    • Rittler M, Orioli IM. Achondrogenesis type II with polydactyly. Am J Med Genet. 1995;59:157-160.
    • (1995) Am J Med Genet , vol.59 , pp. 157-160
    • Rittler, M.1    Orioli, I.M.2
  • 23
    • 0022993190 scopus 로고
    • Prevalence rates of microtia in South America
    • Castilla EE, Orioli IM. Prevalence rates of microtia in South America. Int J Epidemiol. 1986;15:364-368.
    • (1986) Int J Epidemiol , vol.15 , pp. 364-368
    • Castilla, E.E.1    Orioli, I.M.2
  • 25
    • 70349814417 scopus 로고    scopus 로고
    • Environmental and genetic factors associated with congenital microtia: A casecontrol study in Jiangsu China 2004 to 2007
    • Zhang QG, Zhang J, Yu P, Shen H. Environmental and genetic factors associated with congenital microtia: A casecontrol study in Jiangsu, China, 2004 to 2007. Plast Reconstr Surg. 2009;124:1157-1164.
    • (2009) Plast Reconstr Surg , vol.124 , pp. 1157-1164
    • Zhang, Q.G.1    Zhang, J.2    Yu, P.3    Shen, H.4
  • 26
    • 0027998039 scopus 로고
    • BMP5 and the molecular, skeletal, and soft-tissue alterations in short ear mice
    • King JA, Seung KJ. BMP5 and the molecular, skeletal, and soft-tissue alterations in short ear mice. Dev Biol. 1994;166: 112-122.
    • (1994) Dev Biol , vol.166 , pp. 112-122
    • King, J.A.1    Seung, K.J.2
  • 27
    • 57649235171 scopus 로고    scopus 로고
    • Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3)
    • Alsmadi O, Alkuraya F, et al. Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). Eur J Hum Genet. 2009;17:14-21.
    • (2009) Eur J Hum Genet , vol.17 , pp. 14-21
    • Alsmadi, O.1    Alkuraya, F.2
  • 29
    • 33846615392 scopus 로고    scopus 로고
    • Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia
    • Tekin M, Hişmi BO, Fitoz S, et al. Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. Am J Hum Genet. 2007;80:338-344.
    • (2007) Am J Hum Genet , vol.80 , pp. 338-344
    • Tekin, M.1    Hişmi, B.O.2    Fitoz, S.3
  • 30
    • 0024365875 scopus 로고
    • The association of facial palsy and/or sensorineural hearing loss in patients with hemifacial microsomia
    • Bassila MK, Goldberg R. The association of facial palsy and/or sensorineural hearing loss in patients with hemifacial microsomia. Cleft Palate J. 1989;26:287-291.
    • (1989) Cleft Palate J , vol.26 , pp. 287-291
    • Bassila, M.K.1    Goldberg, R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.