메뉴 건너뛰기




Volumn 161, Issue 5, 2013, Pages 1012-1018

Fraser Syndrome: Epidemiological Study in a European Population

(25)  Barisic, Ingeborg a   Odak, Ljubica a   Loane, Maria b   Garne, Ester c   Wellesley, Diana d   Calzolari, Elisa e   Dolk, Helen b   Addor, Marie Claude f   Arriola, Larraitz g   Bergman, Jorieke h   Bianca, Sebastiano i   Boyd, Patricia A j   Draper, Elizabeth S k   Gatt, Miriam l   Haeusler, Martin m   Khoshnood, Babak n   Latos Bielenska, Anna o   Mcdonnell, Bob p   Pierini, Anna q   Rankin, Judith r   more..


Author keywords

Congenital abnormalities; Epidemiology; Fraser syndrome; Induced abortion; Prenatal diagnosis; Prevalence

Indexed keywords

AMBIGUOUS GENITALIA; ANORECTAL MALFORMATION; ARTICLE; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; CRYPTOPHTHALMOS; DISEASE ASSOCIATION; FEMALE; FETUS ECHOGRAPHY; FETUS KARYOTYPING; FRAS1 GENE; FRASER SYNDROME; GENE; GENETIC SCREENING; GESTATIONAL AGE; HUMAN; KIDNEY AGENESIS; LARYNX DISORDER; MALE; MUTATIONAL ANALYSIS; NEWBORN; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; SEX DIFFERENCE; STILLBIRTH; SYNDACTYLY;

EID: 84876804148     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35839     Document Type: Article
Times cited : (42)

References (28)
  • 2
    • 0023767119 scopus 로고
    • Fraser syndrome (cryptophthalmos-syndactyly syndrome): A review of eleven cases with postmortem findings
    • Boyd PA, Keeling JW, Lindenbaum RH. 1988. Fraser syndrome (cryptophthalmos-syndactyly syndrome): A review of eleven cases with postmortem findings. Am J Med Genet 31:159-168.
    • (1988) Am J Med Genet , vol.31 , pp. 159-168
    • Boyd, P.A.1    Keeling, J.W.2    Lindenbaum, R.H.3
  • 4
    • 0025299611 scopus 로고
    • Race, consanguinity and social features in Birmingham babies: A basis for prospective study
    • Bundey S, Alam H, Kaur A, Mir S, Lancashire RJ. 1990. Race, consanguinity and social features in Birmingham babies: A basis for prospective study. J Epidemiol Comm Health 44:130-135.
    • (1990) J Epidemiol Comm Health , vol.44 , pp. 130-135
    • Bundey, S.1    Alam, H.2    Kaur, A.3    Mir, S.4    Lancashire, R.J.5
  • 8
    • 84981807786 scopus 로고
    • Our genetical load: A review of some aspects of genetical variation
    • Fraser GR. 1962. Our genetical load: A review of some aspects of genetical variation. Ann Hum Genet 25:387-415.
    • (1962) Ann Hum Genet , vol.25 , pp. 387-415
    • Fraser, G.R.1
  • 9
    • 0023242382 scopus 로고
    • The clinical spectrum of Fraser syndrome: Report of three new cases and review
    • Gattuso J, Patton MA, Baraitser M. 1987. The clinical spectrum of Fraser syndrome: Report of three new cases and review. J Med Genet 24:549-555.
    • (1987) J Med Genet , vol.24 , pp. 549-555
    • Gattuso, J.1    Patton, M.A.2    Baraitser, M.3
  • 13
    • 0026773347 scopus 로고
    • Prevalence of congenital anomaly syndromes in a Spanish gypsy population
    • Martínez-Frías ML, Bermejo E. 1992. Prevalence of congenital anomaly syndromes in a Spanish gypsy population. J Med Genet 29:483-486.
    • (1992) J Med Genet , vol.29 , pp. 483-486
    • Martínez-Frías, M.L.1    Bermejo, E.2
  • 15
    • 1042278816 scopus 로고    scopus 로고
    • Prospective prenatal diagnosis of Fraser syndrome variant in a family with negative history
    • Maruotti GM, Paladini D, Agangi A, Martinelli P. 2004. Prospective prenatal diagnosis of Fraser syndrome variant in a family with negative history. Prenat Diagn 24:69-70.
    • (2004) Prenat Diagn , vol.24 , pp. 69-70
    • Maruotti, G.M.1    Paladini, D.2    Agangi, A.3    Martinelli, P.4
  • 17
    • 79952106168 scopus 로고    scopus 로고
    • The role of Fras1/Frem proteins in the structure and function of basement membrane
    • Pavlakis E, Chiotaki R, Chalepakis G. 2011. The role of Fras1/Frem proteins in the structure and function of basement membrane. Int J Biochem Cell Biol 43:487-495.
    • (2011) Int J Biochem Cell Biol , vol.43 , pp. 487-495
    • Pavlakis, E.1    Chiotaki, R.2    Chalepakis, G.3
  • 19
    • 69249212228 scopus 로고    scopus 로고
    • A surgical strategy for the correction of Fraser syndrome cryptophthalmos
    • Saleh GM, Hussain B, Verity DH, Collin JR. 2009. A surgical strategy for the correction of Fraser syndrome cryptophthalmos. Ophthalmology 116:1707-1712.
    • (2009) Ophthalmology , vol.116 , pp. 1707-1712
    • Saleh, G.M.1    Hussain, B.2    Verity, D.H.3    Collin, J.R.4
  • 20
    • 0025186104 scopus 로고
    • Prenatal diagnosis of Fraser syndrome at 18.5 weeks gestation, with autopsy findings at 19 weeks
    • Schauer GM, Dunn LK, Godmilow L, Eagle RC, Knisely AS. 1990. Prenatal diagnosis of Fraser syndrome at 18.5 weeks gestation, with autopsy findings at 19 weeks. Am J Med Genet 37:583-591.
    • (1990) Am J Med Genet , vol.37 , pp. 583-591
    • Schauer, G.M.1    Dunn, L.K.2    Godmilow, L.3    Eagle, R.C.4    Knisely, A.S.5
  • 21
    • 38849096515 scopus 로고    scopus 로고
    • Fraser syndrome due to homozygosity for a splice site mutation of FREM2
    • Shafeghati Y, Kniepert A, Vakili G, Zenker M. 2008. Fraser syndrome due to homozygosity for a splice site mutation of FREM2. Am J Med Genet Part A 146A:529-531.
    • (2008) Am J Med Genet Part A , vol.146 A , pp. 529-531
    • Shafeghati, Y.1    Kniepert, A.2    Vakili, G.3    Zenker, M.4
  • 22
    • 34547236209 scopus 로고    scopus 로고
    • Let's stick together: The role of the Fras1 and Frem proteins in epidermal adhesion
    • Short K, Wiradjaja F, Smyth I. 2007. Let's stick together: The role of the Fras1 and Frem proteins in epidermal adhesion. IUBMB Life 59:427-435.
    • (2007) IUBMB Life , vol.59 , pp. 427-435
    • Short, K.1    Wiradjaja, F.2    Smyth, I.3
  • 23
    • 0036712853 scopus 로고    scopus 로고
    • Fraser syndrome and cryptophthalmos: Review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes
    • Slavotinek AM, Tifft CJ. 2002. Fraser syndrome and cryptophthalmos: Review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J Med Genet 39:623-633.
    • (2002) J Med Genet , vol.39 , pp. 623-633
    • Slavotinek, A.M.1    Tifft, C.J.2
  • 25
    • 37249027239 scopus 로고    scopus 로고
    • Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria
    • Fraser Syndrome Collaboration Group
    • van Haelst MM, Scambler PJ, Fraser Syndrome Collaboration Group, Hennekam RCM. 2007. Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria. Am J Med Genet Part A 143A:3194-3203.
    • (2007) Am J Med Genet Part A , vol.143 A , pp. 3194-3203
    • van Haelst, M.M.1    Scambler, P.J.2    Hennekam, R.C.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.