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Volumn 140, Issue 11, 2006, Pages 1148-1155

A population-based case-control study of isolated primary congenital glaucoma

Author keywords

Buphthalmos; Case control study; Gypsy Rom population; Inbreeding; Isolated primary congenital glaucoma

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BUPHTHALMOS; CASE CONTROL STUDY; CONGENITAL GLAUCOMA; CONTROLLED STUDY; ETHNIC GROUP; FEMALE; GENE MUTATION; GIPSY; HUMAN; HUNGARY; INBREEDING; INCIDENCE; INFANT; MAJOR CLINICAL STUDY; MALE; POPULATION RESEARCH; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SOCIOECONOMICS; STRUCTURED INTERVIEW; UNEMPLOYMENT;

EID: 33744796023     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31276     Document Type: Article
Times cited : (10)

References (36)
  • 2
    • 0026285277 scopus 로고
    • High consanguinity rate in Hungarian Gypsy population
    • Assai S, Susánszky E, Czeizel AE. 1991. High consanguinity rate in Hungarian Gypsy population. Acta Pediat Hung 31:299-304.
    • (1991) Acta Pediat Hung , vol.31 , pp. 299-304
    • Assai, S.1    Susánszky, E.2    Czeizel, A.E.3
  • 4
    • 0032539587 scopus 로고    scopus 로고
    • Congenital eye malformations: Clinical-epidemiological analysis of 1,124,654 consecutive birth in Spain
    • Bermejo E, Martinez-Frias ML. 1998. Congenital eye malformations: Clinical-epidemiological analysis of 1,124,654 consecutive birth in Spain. Am J Med Genet 75:497-504.
    • (1998) Am J Med Genet , vol.75 , pp. 497-504
    • Bermejo, E.1    Martinez-Frias, M.L.2
  • 6
    • 0030874065 scopus 로고    scopus 로고
    • First 25 years of the Hungarian Congenital Abnormality Registry
    • Czeizel AE. 1997. First 25 years of the Hungarian Congenital Abnormality Registry. Teratology 56:299-305.
    • (1997) Teratology , vol.56 , pp. 299-305
    • Czeizel, A.E.1
  • 7
    • 0017123365 scopus 로고
    • The occurrence of consanguineous marriages in Hungary
    • Czeizel AE, Bodnar L, Illei G, Molnár A. 1976. The occurrence of consanguineous marriages in Hungary. Hum Hered 26:110-112.
    • (1976) Hum Hered , vol.26 , pp. 110-112
    • Czeizel, A.E.1    Bodnar, L.2    Illei, G.3    Molnár, A.4
  • 9
    • 0027416952 scopus 로고
    • What proportion of congenital abnormalities can be prevented?
    • Czeizel AE, Intödy ZS, Modell B. 1993. What proportion of congenital abnormalities can be prevented? Br J Med 306:499-503.
    • (1993) Br J Med , vol.306 , pp. 499-503
    • Czeizel, A.E.1    Intödy, Z.S.2    Modell, B.3
  • 10
    • 0035014840 scopus 로고    scopus 로고
    • Description and mission evaluation of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-1996
    • Czeizel AE, Rockenbauer M, Siffel CS, Varga E. 2001. Description and mission evaluation of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-1996. Teratology 63:176-185.
    • (2001) Teratology , vol.63 , pp. 176-185
    • Czeizel, A.E.1    Rockenbauer, M.2    Siffel, C.S.3    Varga, E.4
  • 11
    • 0041869424 scopus 로고    scopus 로고
    • Validation studies of drug exposures in pregnant women
    • Czeizel AE, Petik D, Vargha P. 2003. Validation studies of drug exposures in pregnant women. Pharmacoepid Drug Safety 12:409-416.
    • (2003) Pharmacoepid Drug Safety , vol.12 , pp. 409-416
    • Czeizel, A.E.1    Petik, D.2    Vargha, P.3
  • 12
    • 11244354421 scopus 로고    scopus 로고
    • Smoking and alcohol drinking during pregnancy. The reliability of retrospective maternal self-reported information
    • Czeizel AE, Petik D, Puhö E. 2004. Smoking and alcohol drinking during pregnancy. The reliability of retrospective maternal self-reported information. Cent Eur J Publ Health 12:179-183.
    • (2004) Cent Eur J Publ Health , vol.12 , pp. 179-183
    • Czeizel, A.E.1    Petik, D.2    Puhö, E.3
  • 13
    • 0020592326 scopus 로고
    • Primary infantile glaucoma (congenital glaucoma)
    • DeLuise VP, Anderson DR. 1983. Primary infantile glaucoma (congenital glaucoma). Surv Ophthalmol 28:1-19.
    • (1983) Surv Ophthalmol , vol.28 , pp. 1-19
    • DeLuise, V.P.1    Anderson, D.R.2
  • 16
    • 0020000365 scopus 로고
    • Population genetic aspects of primary congenital glaucoma. II. Fitness, parental consanguinity, founder effect
    • Ferak V, Genčikova A, Genčik A. 1982. Population genetic aspects of primary congenital glaucoma. II. Fitness, parental consanguinity, founder effect. Hum Genet 61:198-200.
    • (1982) Hum Genet , vol.61 , pp. 198-200
    • Ferak, V.1    Genčikova, A.2    Genčik, A.3
  • 18
    • 0019291895 scopus 로고
    • Congenital glaucoma and its inheritance
    • Francois J. 1972. Congenital glaucoma and its inheritance. Ophthalmologica 181:61-73.
    • (1972) Ophthalmologica , vol.181 , pp. 61-73
    • Francois, J.1
  • 19
    • 0024388554 scopus 로고
    • Epidemiology and genetics of primary congenital glaucoma in Slovakia. Description of a form of primary congenital glaucoma in Gypsies with autosomal-recessive inheritance and complete penetrance
    • Genčik A. 1989. Epidemiology and genetics of primary congenital glaucoma in Slovakia. Description of a form of primary congenital glaucoma in Gypsies with autosomal-recessive inheritance and complete penetrance. Dev Ophthalmol 16: 76-115.
    • (1989) Dev Ophthalmol , vol.16 , pp. 76-115
    • Genčik, A.1
  • 20
    • 0019936088 scopus 로고
    • Population genetical aspects of primary congenital glaucoma I. Incidence prevalence, gene frequency, and age of onset
    • Genčik A, Genčikova A, Ferák V. 1982. Population genetical aspects of primary congenital glaucoma I. Incidence prevalence, gene frequency, and age of onset. Hum Genet 61:193-197.
    • (1982) Hum Genet , vol.61 , pp. 193-197
    • Genčik, A.1    Genčikova, A.2    Ferák, V.3
  • 21
    • 0020071174 scopus 로고
    • Congenital glaucoma in Gypsies from Slovakia
    • Genčikova A, Genčik A. 1982. Congenital glaucoma in Gypsies from Slovakia. Hum Hered 32:270-273.
    • (1982) Hum Hered , vol.32 , pp. 270-273
    • Genčikova, A.1    Genčik, A.2
  • 22
    • 0035080167 scopus 로고    scopus 로고
    • Childhood blindness in the context of VISION 2020-the right to sight
    • Gilbert C, Foster A. 2001. Childhood blindness in the context of VISION 2020-the right to sight. Bull World Health Organ 79:227-232.
    • (2001) Bull World Health Organ , vol.79 , pp. 227-232
    • Gilbert, C.1    Foster, A.2
  • 25
    • 33744822345 scopus 로고
    • (Hungarian with English abstract). Budapest: Központi Statisztikai Hivatal
    • Mészáros A. 1994. Socioeconomic status of Gypsy population. (Hungarian with English abstract). Budapest: Központi Statisztikai Hivatal.
    • (1994) Socioeconomic Status of Gypsy Population
    • Mészáros, A.1
  • 26
    • 0031973099 scopus 로고    scopus 로고
    • Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia
    • Plašilova M, Ferakova E, Kádasi L, Polakova H, Gerinec A, Ott J, Ferak V. 1998. Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia. Hum Hered 48:30-33.
    • (1998) Hum Hered , vol.48 , pp. 30-33
    • Plašilova, M.1    Ferakova, E.2    Kádasi, L.3    Polakova, H.4    Gerinec, A.5    Ott, J.6    Ferak, V.7
  • 27
    • 2442723700 scopus 로고    scopus 로고
    • Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma
    • Plašilova M, Stoilov I, Sarfarazi M, Kádasi L, Ferakova E, Ferak V. 1999. Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. J Med Genet 36:290-294.
    • (1999) J Med Genet , vol.36 , pp. 290-294
    • Plašilova, M.1    Stoilov, I.2    Sarfarazi, M.3    Kádasi, L.4    Ferakova, E.5    Ferak, V.6
  • 29
    • 0013837675 scopus 로고
    • Genetics and the congenital glaucoma
    • Shaffer RN. 1965. Genetics and the congenital glaucoma. Am J Ophthal 60:981-994.
    • (1965) Am J Ophthal , vol.60 , pp. 981-994
    • Shaffer, R.N.1
  • 30
    • 0027173920 scopus 로고
    • Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31
    • Sheffield VC, Stone EM, Alward WLM. 1993. Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet 4:47-50.
    • (1993) Nat Genet , vol.4 , pp. 47-50
    • Sheffield, V.C.1    Stone, E.M.2    Alward, W.L.M.3
  • 31
    • 0030942553 scopus 로고    scopus 로고
    • Identification of three different truncating mutations of cytochrome P4501BI (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21
    • Stoilov I, Akarsu AN, Sarfarazi M. 1997. Identification of three different truncating mutations of cytochrome P4501BI (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet 6:641-647.
    • (1997) Hum Mol Genet , vol.6 , pp. 641-647
    • Stoilov, I.1    Akarsu, A.N.2    Sarfarazi, M.3
  • 32
    • 17344368983 scopus 로고    scopus 로고
    • Sequence analysis and homolog modeling of cytochrome P4501B1 suggest that primary congenital glaucoma is caused by mutations affecting the conserved core structure shared by all P450 molecules
    • Stoilov I, Akarsu AN, Alozie I, Sarfarazi M. 1998. Sequence analysis and homolog modeling of cytochrome P4501B1 suggest that primary congenital glaucoma is caused by mutations affecting the conserved core structure shared by all P450 molecules. Am J Hum Genet 62:573-584.
    • (1998) Am J Hum Genet , vol.62 , pp. 573-584
    • Stoilov, I.1    Akarsu, A.N.2    Alozie, I.3    Sarfarazi, M.4
  • 33
    • 0030763671 scopus 로고    scopus 로고
    • Congenital eye malformations in 212,479 consecutive births
    • Stoll C, Alembik Y, Dott B, Rogh MP. 1997. Congenital eye malformations in 212,479 consecutive births. Ann Genet 40:122-128.
    • (1997) Ann Genet , vol.40 , pp. 122-128
    • Stoll, C.1    Alembik, Y.2    Dott, B.3    Rogh, M.P.4
  • 34
    • 4644306793 scopus 로고
    • The Gypsy groups
    • Czeizel AE, Benkmann H-G, Goedde HW. editors. Berlin: Springer-Verlag
    • Tauszik T. 1991. The Gypsy groups. In: Czeizel AE, Benkmann H-G, Goedde HW. editors. Genetics of the Hungarian population. Berlin: Springer-Verlag, p 64-72.
    • (1991) Genetics of the Hungarian Population , pp. 64-72
    • Tauszik, T.1
  • 36
    • 30344487568 scopus 로고    scopus 로고
    • Population-based case-control study of isolated congenital cataract
    • Vogt G, Puhó E, Czeizel AE. 2005. Population-based case-control study of isolated congenital cataract. Birth Defects Res (Part A) 73:997-1005.
    • (2005) Birth Defects Res (Part A) , vol.73 , pp. 997-1005
    • Vogt, G.1    Puhó, E.2    Czeizel, A.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.