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Volumn 192, Issue 1, 2009, Pages 48-51

Brain and bone abnormalities of thanatophoric dwarfism

Author keywords

Brain; Fetal imaging; Postmortem MRI; Temporal lobes; Thanatophoric dwarfism

Indexed keywords

ARTICLE; BRAIN MALFORMATION; ECHOGRAPHY; HUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKELETON MALFORMATION; THANATOPHORIC DWARFISM;

EID: 58149231214     PISSN: 0361803X     EISSN: None     Source Type: Journal    
DOI: 10.2214/AJR.08.1524     Document Type: Article
Times cited : (38)

References (15)
  • 1
    • 0022493547 scopus 로고
    • The birth prevalence rates for the skeletal dysplasias
    • Orioli IM, Castilla EE, Barbosa-Neto JG. The birth prevalence rates for the skeletal dysplasias. J Med Genet 1986; 23:328-332
    • (1986) J Med Genet , vol.23 , pp. 328-332
    • Orioli, I.M.1    Castilla, E.E.2    Barbosa-Neto, J.G.3
  • 2
    • 26444491115 scopus 로고    scopus 로고
    • The cerebral cortex malformation in thanatophoric dysplasia: Neuropathology and pathogenesis
    • Hevner RF. The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis. Acta Neuropathol 2005; 110:208-221
    • (2005) Acta Neuropathol , vol.110 , pp. 208-221
    • Hevner, R.F.1
  • 3
    • 0028872752 scopus 로고
    • Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
    • Tavormina PL, Shiang R, Thompson LM, et al. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 1995; 9:321-328
    • (1995) Nat Genet , vol.9 , pp. 321-328
    • Tavormina, P.L.1    Shiang, R.2    Thompson, L.M.3
  • 5
    • 0032900368 scopus 로고    scopus 로고
    • Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results
    • Sawai H, Komori S, Ida A, Henmi T, Bessho T, Koyama K. Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results. Prenat Diagn 1999; 19:21-24
    • (1999) Prenat Diagn , vol.19 , pp. 21-24
    • Sawai, H.1    Komori, S.2    Ida, A.3    Henmi, T.4    Bessho, T.5    Koyama, K.6
  • 6
    • 0023481995 scopus 로고
    • Thanatophoric dysplasia and cloverleaf skull
    • Langer LO Jr, Yang SS, Hall JG, et al. Thanatophoric dysplasia and cloverleaf skull. Am J Med Genet 1987; 3[suppl]:167-179
    • (1987) Am J Med Genet , vol.3 , Issue.SUPPL. , pp. 167-179
    • Langer Jr, L.O.1    Yang, S.S.2    Hall, J.G.3
  • 8
    • 0026849221 scopus 로고
    • Thanatophoric dysplasia of the straight-bone type (type 2)
    • Norman AM, Rimmer S, Landy S, Donnai D. Thanatophoric dysplasia of the straight-bone type (type 2). Clin Dysmorphol 1992; 1:115-120
    • (1992) Clin Dysmorphol , vol.1 , pp. 115-120
    • Norman, A.M.1    Rimmer, S.2    Landy, S.3    Donnai, D.4
  • 9
    • 0035099946 scopus 로고    scopus 로고
    • Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia
    • Chen CP, Chern SR, Shih JC, et al. Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia. Prenat Diagn 2001; 21:89-95
    • (2001) Prenat Diagn , vol.21 , pp. 89-95
    • Chen, C.P.1    Chern, S.R.2    Shih, J.C.3
  • 10
    • 0242641486 scopus 로고    scopus 로고
    • Prenatal diagnosis of thanatophoric dysplasia in the second trimester: Ultrasonography and other diagnostic modalities
    • Sahinoglu Z, Uludogan M, Gurbuz A, Karateke A. Prenatal diagnosis of thanatophoric dysplasia in the second trimester: ultrasonography and other diagnostic modalities. Arch Gynecol Obstet 2003; 269:57-61
    • (2003) Arch Gynecol Obstet , vol.269 , pp. 57-61
    • Sahinoglu, Z.1    Uludogan, M.2    Gurbuz, A.3    Karateke, A.4
  • 13
    • 0002566049 scopus 로고
    • A particular cerebral malformation associated with thanatophoric dwarfism
    • in French
    • Goutieres F, Aicardi J, Farkas-Bargeton E. A particular cerebral malformation associated with thanatophoric dwarfism [in French]. Presse Med 1971; 79:960
    • (1971) Presse Med , vol.79 , pp. 960
    • Goutieres, F.1    Aicardi, J.2    Farkas-Bargeton, E.3
  • 14
    • 0015133185 scopus 로고
    • Cloverleaf skull and thanatophoric dwarfism: Report of four cases, two in the same sibship
    • Partington MW, Gonzales-Crussi F, Khakee SG, Wollin DG. Cloverleaf skull and thanatophoric dwarfism: report of four cases, two in the same sibship. Arch Dis Child 1971; 46:656-664
    • (1971) Arch Dis Child , vol.46 , pp. 656-664
    • Partington, M.W.1    Gonzales-Crussi, F.2    Khakee, S.G.3    Wollin, D.G.4
  • 15
    • 0036107991 scopus 로고    scopus 로고
    • Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2
    • Kalache KD, Lehmann K, Chaoui R, Kivelitz DE, Mundlos S, Bollmann R. Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2. Prenat Diagn 2002; 22:404-407
    • (2002) Prenat Diagn , vol.22 , pp. 404-407
    • Kalache, K.D.1    Lehmann, K.2    Chaoui, R.3    Kivelitz, D.E.4    Mundlos, S.5    Bollmann, R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.