메뉴 건너뛰기




Volumn 112, Issue 9 I, 2003, Pages 817-820

Worldwide distribution of Waardenburg syndrome

Author keywords

Congenital deafness; Dystopia canthorum; Genetic deafness; Heterochromia iridis; Waardenburg syndrome

Indexed keywords

CLINICAL FEATURE; CONGENITAL DEAFNESS; CONTROLLED STUDY; GEOGRAPHIC DISTRIBUTION; HEARING LOSS; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; RACE DIFFERENCE; REVIEW; SOUTH ASIA; WAARDENBURG SYNDROME; WESTERN EUROPE; ASIA; CASE REPORT; CHILD; COHORT ANALYSIS; EUROPE; HEALTH; MALE; PATHOLOGY; PRESCHOOL CHILD;

EID: 0142024767     PISSN: 00034894     EISSN: None     Source Type: Journal    
DOI: 10.1177/000348940311200913     Document Type: Review
Times cited : (74)

References (20)
  • 1
    • 76949125703 scopus 로고
    • A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair with congenital deafness
    • Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair with congenital deafness. Am J Hum Genet 1951;3:195-253.
    • (1951) Am J Hum Genet , vol.3 , pp. 195-253
    • Waardenburg, P.J.1
  • 3
    • 0038723360 scopus 로고    scopus 로고
    • Autosomal and X-linked auditory disorders
    • Keats BJB, Popper AN, Fay RR, eds. Berlin, Germany: Springer Verlag. (Springer handbook of auditory research)
    • Griffith AJ, Friedman TB. Autosomal and X-linked auditory disorders. In: Keats BJB, Popper AN, Fay RR, eds. Genetics and auditory disorders. Berlin, Germany: Springer Verlag, 2002:121-227. (Springer handbook of auditory research; vol 14.)
    • (2002) Genetics and Auditory Disorders , vol.14 , pp. 121-227
    • Griffith, A.J.1    Friedman, T.B.2
  • 5
    • 0025099433 scopus 로고
    • Hearing loss and Waardenburg's syndrome: Implications for genetic counselling
    • Newton V. Hearing loss and Waardenburg's syndrome: implications for genetic counselling. J Laryngol Otol 1990;104:97-103.
    • (1990) J Laryngol Otol , vol.104 , pp. 97-103
    • Newton, V.1
  • 7
    • 0036461068 scopus 로고    scopus 로고
    • Cytogenetic mapping of a novel locus for type II Waardenburg syndrome
    • Selicorni A, Guerneri S, Ratti A, Pizzuti A. Cytogenetic mapping of a novel locus for type II Waardenburg syndrome. Hum Genet 2002;110:64-7.
    • (2002) Hum Genet , vol.110 , pp. 64-67
    • Selicorni, A.1    Guerneri, S.2    Ratti, A.3    Pizzuti, A.4
  • 9
    • 0015061416 scopus 로고
    • An Arab family with Waardenburg syndrome
    • Amin-Zaki L. An Arab family with Waardenburg syndrome. J Laryngol Otol 1951;65:471-80.
    • (1951) J Laryngol Otol , vol.65 , pp. 471-480
    • Amin-Zaki, L.1
  • 10
    • 0017960074 scopus 로고
    • Waardenburg-Syndrom. Bericht uber 4 falle in einer iranischen famillie
    • Walizadeh GR, Kabiri M. Waardenburg-Syndrom. Bericht uber 4 Falle in einer iranischen Famillie. Monatsschr Kinderheilkd 1978;126:212-4.
    • (1978) Monatsschr Kinderheilkd , vol.126 , pp. 212-214
    • Walizadeh, G.R.1    Kabiri, M.2
  • 11
    • 0033855502 scopus 로고    scopus 로고
    • Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with Waardenburg syndrome type 1
    • Sotirova VN, Rezaie T, Khoshsorour MR, Sarfarazi M. Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with Waardenburg syndrome type 1. Ophthalmic Genet 2000;21:25-8.
    • (2000) Ophthalmic Genet , vol.21 , pp. 25-28
    • Sotirova, V.N.1    Rezaie, T.2    Khoshsorour, M.R.3    Sarfarazi, M.4
  • 12
    • 0019321899 scopus 로고
    • Four families with Waardenburg syndrome in Shizuoka prefecture
    • in Japanese
    • Tamada A, Kobayashi T. Four families with Waardenburg syndrome in Shizuoka prefecture [in Japanese]. Nippon Jibiinkoka Gakkai Kaiho 1980;83:1616-9.
    • (1980) Nippon Jibiinkoka Gakkai Kaiho , vol.83 , pp. 1616-1619
    • Tamada, A.1    Kobayashi, T.2
  • 14
    • 0031436220 scopus 로고    scopus 로고
    • Waardenburg syndome type II in a Taiwanese woman with a family history of pseudoxanthoma elasticum
    • Mancini AJ. Waardenburg syndome type II in a Taiwanese woman with a family history of pseudoxanthoma elasticum. Int J Dermatol 1997;36:933-5.
    • (1997) Int J Dermatol , vol.36 , pp. 933-935
    • Mancini, A.J.1
  • 15
    • 0026893878 scopus 로고
    • A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family
    • Morell R, Friedman TB, Moeljopawiro S, Hartono, Soewito, Asher JH Jr. A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family. Hum Mol Genet 1992;1:243-7.
    • (1992) Hum Mol Genet , vol.1 , pp. 243-247
    • Morell, R.1    Friedman, T.B.2    Moeljopawiro, S.3    Hartono4    Soewito5    Asher Jr., J.H.6
  • 19
    • 0031770814 scopus 로고    scopus 로고
    • Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family
    • Lalwani AK, Attaie A, Randolph FT, et al. Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family. Am J Med Genet 1998;80:406-9.
    • (1998) Am J Med Genet , vol.80 , pp. 406-409
    • Lalwani, A.K.1    Attaie, A.2    Randolph, F.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.