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Volumn 140, Issue 19, 2006, Pages 2135-2138

Bifid ribs and unusual vertebral anomalies diagnosed in an anatomical specimen. Gorlin syndrome?

Author keywords

Anatomical specimen; Bifid ribs; Gorlin syndrome; Hedgehog signaling pathway; Louis Bolk; Malsegmentation; Museum Vrolik; Open brain mutant; Resegmentation; Sclerotomes

Indexed keywords

PROTEIN PATCHED 2; PROTEIN RAB23; RAB PROTEIN; SONIC HEDGEHOG PROTEIN; UNCLASSIFIED DRUG;

EID: 33749494114     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31418     Document Type: Article
Times cited : (7)

References (18)
  • 1
    • 33749460465 scopus 로고
    • On a human skeleton showing bifurcation of several ribs, and a number of little bones, intercalated between the laminae in the dorsal region of the spine
    • Bolk L. 1902. On a human skeleton showing bifurcation of several ribs, and a number of little bones, intercalated between the laminae in the dorsal region of the spine. Petrus Camper 1:195-207.
    • (1902) Petrus Camper , vol.1 , pp. 195-207
    • Bolk, L.1
  • 4
    • 0035849901 scopus 로고    scopus 로고
    • Rab23 is an essential negative regulator of the mouse Sonic hedgehog signalling pathway
    • Eggenschwiler JT, Espinoza E, Anderson KV. 2001. Rab23 is an essential negative regulator of the mouse Sonic hedgehog signalling pathway. Nature 412:194-198.
    • (2001) Nature , vol.412 , pp. 194-198
    • Eggenschwiler, J.T.1    Espinoza, E.2    Anderson, K.V.3
  • 5
    • 0028089937 scopus 로고
    • Open brain, a new mouse mutant with severe neural tube defects, shows altered gene expression patterns in the developing spinal cord
    • Günther T, Struwe M, Aguzzi A, Schughart K. 1994. Open brain, a new mouse mutant with severe neural tube defects, shows altered gene expression patterns in the developing spinal cord. Development 120:3119-3130.
    • (1994) Development , vol.120 , pp. 3119-3130
    • Günther, T.1    Struwe, M.2    Aguzzi, A.3    Schughart, K.4
  • 6
    • 72849181879 scopus 로고
    • Multiple nevoid basal-cell epitheliomata, jaw cysts and bifid rib: A syndrome
    • Gorlin RJ, Goltz RW. 1960. Multiple nevoid basal-cell epitheliomata, jaw cysts and bifid rib: A syndrome. New Engl J Med 262:908-911.
    • (1960) New Engl J Med , vol.262 , pp. 908-911
    • Gorlin, R.J.1    Goltz, R.W.2
  • 7
    • 0015068872 scopus 로고
    • The multiple nevoid basal cell carcinoma syndrome revisited
    • Gorlin RJ, Sedano HO. 1971. The multiple nevoid basal cell carcinoma syndrome revisited. Birth Defects Orig Artic Ser VII:140-148.
    • (1971) Birth Defects Orig Artic Ser , vol.7 , pp. 140-148
    • Gorlin, R.J.1    Sedano, H.O.2
  • 12
    • 9644262638 scopus 로고    scopus 로고
    • Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome
    • Kimonis VE, Mehta SG, Digiovanna JJ, Bale SJ, Pastakia B. 2004. Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. Genet Med 6:495-502.
    • (2004) Genet Med , vol.6 , pp. 495-502
    • Kimonis, V.E.1    Mehta, S.G.2    Digiovanna, J.J.3    Bale, S.J.4    Pastakia, B.5
  • 14
    • 0032079382 scopus 로고    scopus 로고
    • Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, the Netherlands. I: Syndromes with multiple congenital anomalies
    • Oostra RJ, Baljet B, Dijkstra PF, Hennekam RCM. 1998a. Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. I: Syndromes with multiple congenital anomalies. Am J Med Genet 77:100-115.
    • (1998) Am J Med Genet , vol.77 , pp. 100-115
    • Oostra, R.J.1    Baljet, B.2    Dijkstra, P.F.3    Hennekam, R.C.M.4
  • 15
    • 0032079986 scopus 로고    scopus 로고
    • Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasias
    • Oostra RJ, Baljet B, Dijkstra PF, Hennekam RCM. 1998b. Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasias. Am J Med Genet 77:116-134.
    • (1998) Am J Med Genet , vol.77 , pp. 116-134
    • Oostra, R.J.1    Baljet, B.2    Dijkstra, P.F.3    Hennekam, R.C.M.4
  • 17
    • 0344157814 scopus 로고    scopus 로고
    • Paradox segmentation along inter- and intrasomitic borderlines is followed by dysmorphology of the axial skeleton in the open brain (opb) mouse mutant
    • Spörle R, Schughart K. 1998. Paradox segmentation along inter- and intrasomitic borderlines is followed by dysmorphology of the axial skeleton in the open brain (opb) mouse mutant. Dev Genet 22:359-373.
    • (1998) Dev Genet , vol.22 , pp. 359-373
    • Spörle, R.1    Schughart, K.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.