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Volumn , Issue , 2013, Pages 1-34

Craniosynostosis

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EID: 84882739888     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-383834-6.00153-1     Document Type: Chapter
Times cited : (3)

References (188)
  • 4
    • 0031956847 scopus 로고    scopus 로고
    • Toward Understanding the Pathogenesis of Craniosynostosis through Clinical and Molecular Correlates
    • E.W. Jabs (1998) Toward Understanding the Pathogenesis of Craniosynostosis through Clinical and Molecular Correlates. Clin. Genet. 53(2), 79-86.
    • (1998) Clin. Genet. , vol.53 , Issue.2 , pp. 79-86
    • Jabs, E.W.1
  • 11
    • 0030769180 scopus 로고    scopus 로고
    • Craniosynostosis: Genes and Mechanisms
    • A.O. Wilkie (1997) Craniosynostosis: Genes and Mechanisms. Hum. Mol. Genet. 6(10), 1647-1656.
    • (1997) Hum. Mol. Genet. , vol.6 , Issue.10 , pp. 1647-1656
    • Wilkie, A.O.1
  • 12
    • 0027383692 scopus 로고
    • Sutural Biology and the Correlates of Craniosynostosis
    • M.M. Cohen Jr. (1993) Sutural Biology and the Correlates of Craniosynostosis. Am. J. Med. Genet. 47(5), 581-616.
    • (1993) Am. J. Med. Genet. , vol.47 , Issue.5 , pp. 581-616
    • Cohen, M.M.1
  • 13
    • 4243319321 scopus 로고    scopus 로고
    • Embryology of the Skull
    • M.M. Cohen Jr., R.E. McLean (Eds), 2nd ed., Oxford: Oxford University Press
    • R.J. Lemire (2000) Embryology of the Skull. M.M. Cohen Jr., R.E. McLean (Eds) Craniosynostosis: Diagnosis, Evaluation, and Management 2nd ed. Oxford: Oxford University Press 24-34.
    • (2000) Craniosynostosis: Diagnosis, Evaluation, and Management , pp. 24-34
    • Lemire, R.J.1
  • 14
    • 84882795082 scopus 로고    scopus 로고
    • Sperberm, G. H. Calvaria and the Membranous Neurocranium (Desmocranium)
    • (Eds), 1st ed., Hamilton: BC Decker Inc
    • G.H. Sperber (Eds) (2000) Sperberm, G. H. Calvaria and the Membranous Neurocranium (Desmocranium). Craniofacial Development 1st ed. Hamilton: BC Decker Inc. 81-88.
    • (2000) Craniofacial Development , pp. 81-88
    • Sperber, G.H.1
  • 15
    • 84856743896 scopus 로고    scopus 로고
    • The Human Calvaria: A Review of Embryology, Anatomy, Pathology, and Molecular Development
    • R.S. Tubbs, A.N. Bosmia and A.A. Cohen-Gadol (2012) The Human Calvaria: A Review of Embryology, Anatomy, Pathology, and Molecular Development. Child Nerv. Syst. 28(1), 23-31.
    • (2012) Child Nerv. Syst. , vol.28 , Issue.1 , pp. 23-31
    • Tubbs, R.S.1    Bosmia, A.N.2    Cohen-Gadol, A.A.3
  • 17
    • 0032145717 scopus 로고    scopus 로고
    • Trigonocephaly: Isolated, Associated and Syndromic Forms. Genetic Study in a Series of 278 Patients
    • E. Lajeunie, M. Le Merrer, E. Arnaud, D. Marchac and D. Renier (1998) Trigonocephaly: Isolated, Associated and Syndromic Forms. Genetic Study in a Series of 278 Patients. Arch. Pediatr. 5(8), 873-879.
    • (1998) Arch. Pediatr. , vol.5 , Issue.8 , pp. 873-879
    • Lajeunie, E.1    Le Merrer, M.2    Arnaud, E.3    Marchac, D.4    Renier, D.5
  • 18
    • 67650149722 scopus 로고    scopus 로고
    • Evolution in the Frequency of Non-Syndromic Craniosynostosis
    • F. Di Rocco, E. Arnaud and D. Renier (2009) Evolution in the Frequency of Non-Syndromic Craniosynostosis. J. Neurosurg. Pediatr. 4(1), 21-25.
    • (2009) J. Neurosurg. Pediatr. , vol.4 , Issue.1 , pp. 21-25
    • Di Rocco, F.1    Arnaud, E.2    Renier, D.3
  • 19
    • 79551611131 scopus 로고    scopus 로고
    • An Epidemiological Study of Nonsyndromal Craniosynostoses
    • J.C. Kolar (2011) An Epidemiological Study of Nonsyndromal Craniosynostoses. J. Craniofac. Surg. 22(1), 47-49.
    • (2011) J. Craniofac. Surg. , vol.22 , Issue.1 , pp. 47-49
    • Kolar, J.C.1
  • 21
    • 0021810807 scopus 로고
    • The Incidence of Isolated Craniosynostosis in the Newborn Infant
    • A. Shuper, P. Merlob, M. Grunebaum and S.H. Reisner (1985) The Incidence of Isolated Craniosynostosis in the Newborn Infant. Am. J. Dis. Child 139(1), 85-86.
    • (1985) Am. J. Dis. Child , vol.139 , Issue.1 , pp. 85-86
    • Shuper, A.1    Merlob, P.2    Grunebaum, M.3    Reisner, S.H.4
  • 23
    • 0025890379 scopus 로고
    • Germinal Mosaicism in Crouzon Syndrome. A Family with Three Affected Siblings of Normal Parents
    • C. Navarrete, R. Pena, R. Penaloza and F. Salamanca (1991) Germinal Mosaicism in Crouzon Syndrome. A Family with Three Affected Siblings of Normal Parents. Clin. Genet. 40(1), 29-34.
    • (1991) Clin. Genet. , vol.40 , Issue.1 , pp. 29-34
    • Navarrete, C.1    Pena, R.2    Penaloza, R.3    Salamanca, F.4
  • 24
    • 0023852420 scopus 로고
    • Germinal Mosaicism in Crouzon Syndrome
    • B.R. Rollnick (1988) Germinal Mosaicism in Crouzon Syndrome. Clin. Genet. 33(3), 145-150.
    • (1988) Clin. Genet. , vol.33 , Issue.3 , pp. 145-150
    • Rollnick, B.R.1
  • 26
    • 0027981524 scopus 로고
    • Mutations in the Fibroblast Growth Factor Receptor 2 Gene Cause Crouzon Syndrome
    • W. Reardon, R.M. Winter, P. Rutland, L.J. Pulleyn, B.M. Jones and S. Malcolm (1994) Mutations in the Fibroblast Growth Factor Receptor 2 Gene Cause Crouzon Syndrome. Nat. Genet. 8(1), 98-103.
    • (1994) Nat. Genet. , vol.8 , Issue.1 , pp. 98-103
    • Reardon, W.1    Winter, R.M.2    Rutland, P.3    Pulleyn, L.J.4    Jones, B.M.5    Malcolm, S.6
  • 27
    • 84886621421 scopus 로고
    • Craniosynostosis, Midfacial Hypoplasia and Foot Abnormalities: An Autosomal Dominant Phenotype in a Large Amish Kindred
    • C.E. Jackson, L. Weiss, W.A. Reynolds, T.F. Forman and J.A. Peterson (1976) Craniosynostosis, Midfacial Hypoplasia and Foot Abnormalities: An Autosomal Dominant Phenotype in a Large Amish Kindred. J. Pediatr. 88(6), 963-968.
    • (1976) J. Pediatr. , vol.88 , Issue.6 , pp. 963-968
    • Jackson, C.E.1    Weiss, L.2    Reynolds, W.A.3    Forman, T.F.4    Peterson, J.A.5
  • 28
    • 0035874031 scopus 로고    scopus 로고
    • Century of Jackson–Weiss Syndrome: Further Definition of Clinical and Radiographic Findings in “Lost” Descendants of the Original Kindred
    • C. Heike, M. Seto, A. Hing, A. Palidin, F.Z. Hu, R.A. Preston, G.D. Ehrlich and M. Cunningham (2001) Century of Jackson–Weiss Syndrome: Further Definition of Clinical and Radiographic Findings in “Lost” Descendants of the Original Kindred. Am. J. Med. Genet. 100(4), 315-324.
    • (2001) Am. J. Med. Genet. , vol.100 , Issue.4 , pp. 315-324
    • Heike, C.1    Seto, M.2    Hing, A.3    Palidin, A.4    Hu, F.Z.5    Preston, R.A.6    Ehrlich, G.D.7    Cunningham, M.8
  • 30
    • 0027476349 scopus 로고
    • Pfeiffer Syndrome Update, Clinical Subtypes, and Guidelines for Differential Diagnosis
    • M.M. Cohen Jr. (1993) Pfeiffer Syndrome Update, Clinical Subtypes, and Guidelines for Differential Diagnosis. Am. J. Med. Genet. 45(3), 300-307.
    • (1993) Am. J. Med. Genet. , vol.45 , Issue.3 , pp. 300-307
    • Cohen, M.M.1
  • 32
    • 0029877871 scopus 로고    scopus 로고
    • Suture Formation, Premature Sutural Fusion, and Suture Default Zones in Apert Syndrome
    • M.M. Cohen Jr. and S. Kreiborg (1996) Suture Formation, Premature Sutural Fusion, and Suture Default Zones in Apert Syndrome. Am. J. Med. Genet. 62(4), 339-344.
    • (1996) Am. J. Med. Genet. , vol.62 , Issue.4 , pp. 339-344
    • Cohen, M.M.1    Kreiborg, S.2
  • 33
    • 0025159354 scopus 로고
    • The Central Nervous System in the Apert Syndrome
    • M.M. Cohen Jr. and S. Kreiborg (1990) The Central Nervous System in the Apert Syndrome. Am. J. Med. Genet. 35(1), 36-45.
    • (1990) Am. J. Med. Genet. , vol.35 , Issue.1 , pp. 36-45
    • Cohen, M.M.1    Kreiborg, S.2
  • 34
    • 0023845135 scopus 로고
    • Intellectual Development in Apert’s Syndrome: A Long-Term Follow-Up of 29 Patients
    • M.A. Patton, J. Goodship, R. Hayward and R. Lansdown (1988) Intellectual Development in Apert’s Syndrome: A Long-Term Follow-Up of 29 Patients. J. Med. Genet. 25(3), 164-167.
    • (1988) J. Med. Genet. , vol.25 , Issue.3 , pp. 164-167
    • Patton, M.A.1    Goodship, J.2    Hayward, R.3    Lansdown, R.4
  • 35
    • 0027394497 scopus 로고
    • Visceral Anomalies in the Apert Syndrome
    • M.M. Cohen Jr. and S. Kreiborg (1993) Visceral Anomalies in the Apert Syndrome. Am. J. Med. Genet. 45(6), 758-760.
    • (1993) Am. J. Med. Genet. , vol.45 , Issue.6 , pp. 758-760
    • Cohen, M.M.1    Kreiborg, S.2
  • 36
    • 0029655164 scopus 로고
    • Cutaneous Manifestations of Apert Syndrome
    • M.M. Cohen Jr. and S. Kreiborg (1995) Cutaneous Manifestations of Apert Syndrome. Am. J. Med. Genet. 58(1), 94-96.
    • (1995) Am. J. Med. Genet. , vol.58 , Issue.1 , pp. 94-96
    • Cohen, M.M.1    Kreiborg, S.2
  • 39
    • 0028291499 scopus 로고
    • Jackson–Weiss Syndrome: Clinical and Radiological Findings in a Large Kindred and Exclusion of the Gene from 7p.21 and 5qter
    • L.C. Ades, J.C. Mulley, I.P. Senga, L.L. Morris, D.J. David and E.A. Haan (1994) Jackson–Weiss Syndrome: Clinical and Radiological Findings in a Large Kindred and Exclusion of the Gene from 7p.21 and 5qter. Am. J. Med. Genet. 51(2), 121-130.
    • (1994) Am. J. Med. Genet. , vol.51 , Issue.2 , pp. 121-130
    • Ades, L.C.1    Mulley, J.C.2    Senga, I.P.3    Morris, L.L.4    David, D.J.5    Haan, E.A.6
  • 40
    • 0030837389 scopus 로고    scopus 로고
    • Phenotypic Expression of the Fibroblast Growth Factor Receptor 3 (FGFR3) Mutation P250R in a Large Craniosynostosis Family
    • A. Golla, P. Lichmer, S. von Gernet, A. Winterpacht, J. Fairley, J. Murken and S. Schuffenhauer (1997) Phenotypic Expression of the Fibroblast Growth Factor Receptor 3 (FGFR3) Mutation P250R in a Large Craniosynostosis Family. J. Med. Genet. 34(8), 683-684.
    • (1997) J. Med. Genet. , vol.34 , Issue.8 , pp. 683-684
    • Golla, A.1    Lichmer, P.2    von Gernet, S.3    Winterpacht, A.4    Fairley, J.5    Murken, J.6    Schuffenhauer, S.7
  • 42
    • 0032557724 scopus 로고    scopus 로고
    • Syndrome of Coronal Craniosynostosis with Brachydactyly and Carpal/Tarsal Coalition due to Pro250Arg Mutation in FGFR3 Gene
    • J.M. Graham Jr., S.R. Braddock, G.R. Mortier, R. Lachman, C. Van Dop and E.W. Jabs (1998) Syndrome of Coronal Craniosynostosis with Brachydactyly and Carpal/Tarsal Coalition due to Pro250Arg Mutation in FGFR3 Gene. Am. J. Med. Genet. 77(4), 322-329.
    • (1998) Am. J. Med. Genet. , vol.77 , Issue.4 , pp. 322-329
    • Graham, J.M.1    Braddock, S.R.2    Mortier, G.R.3    Lachman, R.4    Van Dop, C.5    Jabs, E.W.6
  • 44
    • 0028793472 scopus 로고
    • Fibroblast Growth Factor Receptor 3 (FGFR3) Transmembrane Mutation in Crouzon Syndrome with Acanthosis Nigricans
    • G.A. Meyers, S.J. Orlow, I.R. Munro, K.A. Przylepa and E.W. Jabs (1995) Fibroblast Growth Factor Receptor 3 (FGFR3) Transmembrane Mutation in Crouzon Syndrome with Acanthosis Nigricans. Nat. Genet. 11(4), 462-464.
    • (1995) Nat. Genet. , vol.11 , Issue.4 , pp. 462-464
    • Meyers, G.A.1    Orlow, S.J.2    Munro, I.R.3    Przylepa, K.A.4    Jabs, E.W.5
  • 45
    • 0033531968 scopus 로고    scopus 로고
    • Let’s Call It “Crouzonodermoskeletal Syndrome” so We Won’t Be Prisoners of Our Own Conventional Terminology
    • M.M. Cohen Jr. (1999) Let’s Call It “Crouzonodermoskeletal Syndrome” so We Won’t Be Prisoners of Our Own Conventional Terminology. Am. J. Med. Genet. 84(1), 74.
    • (1999) Am. J. Med. Genet. , vol.84 , Issue.1 , pp. 74
    • Cohen, M.M.1
  • 46
    • 35348924968 scopus 로고    scopus 로고
    • Crouzon with Acanthosis Nigricans. Further Delineation of the Syndrome
    • L. Arnaud-Lopez, R. Fragoso, J. Mantilla-Capacho and P. Barros-Nunez (2007) Crouzon with Acanthosis Nigricans. Further Delineation of the Syndrome. Clin. Genet. 72(5), 405-410.
    • (2007) Clin. Genet. , vol.72 , Issue.5 , pp. 405-410
    • Arnaud-Lopez, L.1    Fragoso, R.2    Mantilla-Capacho, J.3    Barros-Nunez, P.4
  • 51
    • 0041630695 scopus 로고    scopus 로고
    • A Novel Mutation in the TWIST Gene, Implicated in Saethre–Chotzen Syndrome, Is Found in the Original Case of Robinow–Sorauf Syndrome
    • J. Cai, B.A. Shoo, T. Sorauf and E.W. Jabs (2003) A Novel Mutation in the TWIST Gene, Implicated in Saethre–Chotzen Syndrome, Is Found in the Original Case of Robinow–Sorauf Syndrome. Clin. Genet. 64(1), 79-82.
    • (2003) Clin. Genet. , vol.64 , Issue.1 , pp. 79-82
    • Cai, J.1    Shoo, B.A.2    Sorauf, T.3    Jabs, E.W.4
  • 52
    • 0032810552 scopus 로고    scopus 로고
    • Identification of a Frameshift Mutation in the Gene TWIST in a Family Affected with Robinow–Sorauf Syndrome
    • J. Kunz, M. Hudler and B. Fritz (1999) Identification of a Frameshift Mutation in the Gene TWIST in a Family Affected with Robinow–Sorauf Syndrome. J. Med. Genet. 36(8), 650-652.
    • (1999) J. Med. Genet. , vol.36 , Issue.8 , pp. 650-652
    • Kunz, J.1    Hudler, M.2    Fritz, B.3
  • 53
    • 0027263856 scopus 로고
    • Newly Recognized Autosomal Dominant Disorder with Craniosynostosis
    • M.L. Warman, J.B. Mulliken, P.G. Hayward and U. Muller (1993) Newly Recognized Autosomal Dominant Disorder with Craniosynostosis. Am. J. Med. Genet. 46(4), 444-449.
    • (1993) Am. J. Med. Genet. , vol.46 , Issue.4 , pp. 444-449
    • Warman, M.L.1    Mulliken, J.B.2    Hayward, P.G.3    Muller, U.4
  • 54
    • 0027431005 scopus 로고
    • A Mutation in the Homeodomain of the Human MSX2 Gene in a Family Affected with Autosomal Dominant Craniosynostosis
    • E.W. Jabs, U. Muller, X. Li, L. Ma, W. Luo, I.S. Haworth, I. Klisak, R. Sparkes, M.L. Warman, J.B. Mulliken, et al. (1993) A Mutation in the Homeodomain of the Human MSX2 Gene in a Family Affected with Autosomal Dominant Craniosynostosis. Cell 75(3), 443-450.
    • (1993) Cell , vol.75 , Issue.3 , pp. 443-450
    • Jabs, E.W.1    Muller, U.2    Li, X.3    Ma, L.4    Luo, W.5    Haworth, I.S.6    Klisak, I.7    Sparkes, R.8    Warman, M.L.9    Mulliken, J.B.10
  • 55
    • 0023924808 scopus 로고
    • Craniofrontonasal Dysplasia: Phenotypic Expression in Females and Males and Genetic Considerations
    • E. Grutzner and R.J. Gorlin (1988) Craniofrontonasal Dysplasia: Phenotypic Expression in Females and Males and Genetic Considerations. Oral Surg. Oral Med. Oral Pathol. 65(4), 436-444.
    • (1988) Oral Surg. Oral Med. Oral Pathol. , vol.65 , Issue.4 , pp. 436-444
    • Grutzner, E.1    Gorlin, R.J.2
  • 57
  • 58
    • 63749107674 scopus 로고    scopus 로고
    • A Patient with Baller–Gerold Syndrome and Midline NK/T Lymphoma
    • M. Debeljak, A. Zver and J. Jazbec (2009) A Patient with Baller–Gerold Syndrome and Midline NK/T Lymphoma. Am. J. Med. Genet. A 149A(4), 755-759.
    • (2009) Am. J. Med. Genet. A , vol.149A , Issue.4 , pp. 755-759
    • Debeljak, M.1    Zver, A.2    Jazbec, J.3
  • 59
    • 0016736856 scopus 로고
    • Trapezoidocephaly, Midfacial Hypoplasia and Cartilage Abnormalities with Multiple Synostoses and Skeletal Fractures
    • R. Antley and D. Bixler (1975) Trapezoidocephaly, Midfacial Hypoplasia and Cartilage Abnormalities with Multiple Synostoses and Skeletal Fractures. Birth Defects Orig Artic Ser. 11(2), 397-401.
    • (1975) Birth Defects Orig Artic Ser. , vol.11 , Issue.2 , pp. 397-401
    • Antley, R.1    Bixler, D.2
  • 60
    • 0032543288 scopus 로고    scopus 로고
    • FGFR2 Mutation Associated with Clinical Manifestations Consistent with Antley–Bixler syndrome
    • K. Chun, J. Siegel-Bartelt, D. Chitayat, J. Phillips and P.N. Ray (1998) FGFR2 Mutation Associated with Clinical Manifestations Consistent with Antley–Bixler syndrome. Am. J. Med. Genet. 77(3), 219-224.
    • (1998) Am. J. Med. Genet. , vol.77 , Issue.3 , pp. 219-224
    • Chun, K.1    Siegel-Bartelt, J.2    Chitayat, D.3    Phillips, J.4    Ray, P.N.5
  • 63
    • 0037097340 scopus 로고    scopus 로고
    • Abnormal Sterol Metabolism in a Patient with Antley–Bixler Syndrome and Ambiguous Genitalia
    • R.I. Kelley, L.E. Kratz, R.L. Glaser, M.L. Netzloff, L.M. Wolf and E.W. Jabs (2002) Abnormal Sterol Metabolism in a Patient with Antley–Bixler Syndrome and Ambiguous Genitalia. Am. J. Med. Genet. 110(2), 95-102.
    • (2002) Am. J. Med. Genet. , vol.110 , Issue.2 , pp. 95-102
    • Kelley, R.I.1    Kratz, L.E.2    Glaser, R.L.3    Netzloff, M.L.4    Wolf, L.M.5    Jabs, E.W.6
  • 64
    • 0030770714 scopus 로고    scopus 로고
    • Multiple Malformation Syndrome Following Fluconazole Use in Pregnancy: Report of an Additional Patient
    • K.A. Aleck and D.L. Bartley (1997) Multiple Malformation Syndrome Following Fluconazole Use in Pregnancy: Report of an Additional Patient. Am. J. Med. Genet. 72(3), 253-256.
    • (1997) Am. J. Med. Genet. , vol.72 , Issue.3 , pp. 253-256
    • Aleck, K.A.1    Bartley, D.L.2
  • 65
    • 1842360769 scopus 로고
    • Acrocephaly, with Other Congenital Malformations
    • (Sect Study Dis Child)
    • G. Carpenter (1909) Acrocephaly, with Other Congenital Malformations. Proc. R. Soc. Med. 2 45-53. (Sect Study Dis Child)
    • (1909) Proc. R. Soc. Med. , vol.2 , pp. 45-53
    • Carpenter, G.1
  • 66
    • 0026649742 scopus 로고
    • Fibroblast Growth Factor Receptor Tyrosine Kinases: Molecular Analysis and Signal Transduction
    • M. Jaye, J. Schlessinger and C.A. Dionne (1992) Fibroblast Growth Factor Receptor Tyrosine Kinases: Molecular Analysis and Signal Transduction. Biochim. Biophys. Acta 1135(2), 185-199.
    • (1992) Biochim. Biophys. Acta , vol.1135 , Issue.2 , pp. 185-199
    • Jaye, M.1    Schlessinger, J.2    Dionne, C.A.3
  • 67
    • 0027344852 scopus 로고
    • Structural and Functional Diversity in the FGF Receptor Multigene Family
    • D.E. Johnson and L.T. Williams (1993) Structural and Functional Diversity in the FGF Receptor Multigene Family. Adv. Cancer Res. 60 1-41.
    • (1993) Adv. Cancer Res. , vol.60 , pp. 1-41
    • Johnson, D.E.1    Williams, L.T.2
  • 68
    • 0033520472 scopus 로고    scopus 로고
    • Structural Basis for FGF Receptor Dimerization and Activation
    • A.N. Plotnikov, J. Schlessinger, S.R. Hubbard and M. Mohammadi (1999) Structural Basis for FGF Receptor Dimerization and Activation. Cell 98(5), 641-650.
    • (1999) Cell , vol.98 , Issue.5 , pp. 641-650
    • Plotnikov, A.N.1    Schlessinger, J.2    Hubbard, S.R.3    Mohammadi, M.4
  • 69
    • 0024339705 scopus 로고
    • The Heparin-Binding (Fibroblast) Growth Factor Family of Proteins
    • W.H. Burgess and T. Maciag (1989) The Heparin-Binding (Fibroblast) Growth Factor Family of Proteins. Annu. Rev. Biochem. 58 575-606.
    • (1989) Annu. Rev. Biochem. , vol.58 , pp. 575-606
    • Burgess, W.H.1    Maciag, T.2
  • 70
    • 33644973673 scopus 로고    scopus 로고
    • FGF Signaling in Skeletal Development
    • M.C. Naski and D.M. Ornitz (1998) FGF Signaling in Skeletal Development. Front Biosci. 3 D781-D794.
    • (1998) Front Biosci. , vol.3 , pp. D781-D794
    • Naski, M.C.1    Ornitz, D.M.2
  • 71
    • 0026502460 scopus 로고
    • Heparin is Required for Cell-Free Binding of Basic Fibroblast Growth Factor to a Soluble Receptor and for Mitogenesis in Whole Cells
    • D.M. Ornitz, A. Yayon, J.G. Flanagan, C.M. Svahn, E. Levi and P. Leder (1992) Heparin is Required for Cell-Free Binding of Basic Fibroblast Growth Factor to a Soluble Receptor and for Mitogenesis in Whole Cells. Mol. Cell Biol. 12(1), 240-247.
    • (1992) Mol. Cell Biol. , vol.12 , Issue.1 , pp. 240-247
    • Ornitz, D.M.1    Yayon, A.2    Flanagan, J.G.3    Svahn, C.M.4    Levi, E.5    Leder, P.6
  • 73
    • 0037097976 scopus 로고    scopus 로고
    • FGF Signaling Pathways in Endochondral and Intramembranous Bone Development and Human Genetic Disease
    • D.M. Ornitz and P.J. Marie (2002) FGF Signaling Pathways in Endochondral and Intramembranous Bone Development and Human Genetic Disease. Genes Dev. 16(12), 1446-1465.
    • (2002) Genes Dev. , vol.16 , Issue.12 , pp. 1446-1465
    • Ornitz, D.M.1    Marie, P.J.2
  • 74
    • 13244284809 scopus 로고
    • SH2 and SH3 Domains
    • T. Pawson and J. Schlessinger (1993) SH2 and SH3 Domains. Curr. Biol. 3(7), 434-442.
    • (1993) Curr. Biol. , vol.3 , Issue.7 , pp. 434-442
    • Pawson, T.1    Schlessinger, J.2
  • 76
    • 0043208839 scopus 로고    scopus 로고
    • FGFR mRNA Isoforms in Craniofacial Bone Development
    • D.P. Rice, R. Rice and I. Thesleff (2003) FGFR mRNA Isoforms in Craniofacial Bone Development. Bone 33(1), 14-27.
    • (2003) Bone , vol.33 , Issue.1 , pp. 14-27
    • Rice, D.P.1    Rice, R.2    Thesleff, I.3
  • 77
    • 0033922217 scopus 로고    scopus 로고
    • The Pleiotropic Effects of Fibroblast Growth Factor Receptors in Mammalian Development
    • I. Mcintosh, G.A. Bellus and E.W. Jab (2000) The Pleiotropic Effects of Fibroblast Growth Factor Receptors in Mammalian Development. Cell Struct. Funct. 25(2), 85-96.
    • (2000) Cell Struct. Funct. , vol.25 , Issue.2 , pp. 85-96
    • Mcintosh, I.1    Bellus, G.A.2    Jab, E.W.3
  • 80
    • 17844402791 scopus 로고    scopus 로고
    • Bad Bones, Absent Smell, Selfish Testes: The Pleiotropic Consequences of Human FGF Receptor Mutations
    • A.O. Wilkie (2005) Bad Bones, Absent Smell, Selfish Testes: The Pleiotropic Consequences of Human FGF Receptor Mutations. Cytokine Growth Factor Rev. 16(2), 187-203.
    • (2005) Cytokine Growth Factor Rev. , vol.16 , Issue.2 , pp. 187-203
    • Wilkie, A.O.1
  • 81
    • 0029798614 scopus 로고    scopus 로고
    • Identical Mutations in Three Different Fibroblast Growth Factor Receptor Genes in Autosomal Dominant Craniosynostosis Syndromes
    • G.A. Bellus, K. Gaudenz, E.H. Zackai, L.A. Clarke, J. Szabo, C.A. Francomano and M. Muenke (1996) Identical Mutations in Three Different Fibroblast Growth Factor Receptor Genes in Autosomal Dominant Craniosynostosis Syndromes. Nat. Genet. 14(2), 174-176.
    • (1996) Nat. Genet. , vol.14 , Issue.2 , pp. 174-176
    • Bellus, G.A.1    Gaudenz, K.2    Zackai, E.H.3    Clarke, L.A.4    Szabo, J.5    Francomano, C.A.6    Muenke, M.7
  • 82
    • 0028846512 scopus 로고
    • Constitutive Activation of Fibroblast Growth Factor Receptor-2 by a Point Mutation Associated with Crouzon Syndrome
    • K.M. Neilson and R.E. Friesel (1995) Constitutive Activation of Fibroblast Growth Factor Receptor-2 by a Point Mutation Associated with Crouzon Syndrome. J. Biol. Chem. 270(44), 26037-26040.
    • (1995) J. Biol. Chem. , vol.270 , Issue.44 , pp. 26037-26040
    • Neilson, K.M.1    Friesel, R.E.2
  • 83
    • 0032515975 scopus 로고    scopus 로고
    • Activating Mutations in the Extracellular Domain of the Fibroblast Growth Factor Receptor 2 Function by Disruption of the Disulfide Bond in the Third Immunoglobulin-Like Domain
    • S.C. Robertson, A.N. Meyer, K.C. Hart, B.D. Galvin, M.K. Webster and D.J. Donoghue (1998) Activating Mutations in the Extracellular Domain of the Fibroblast Growth Factor Receptor 2 Function by Disruption of the Disulfide Bond in the Third Immunoglobulin-Like Domain. Proc. Natl. Acad Sci. U.S.A. 95(8), 4567-4572.
    • (1998) Proc. Natl. Acad Sci. U.S.A. , vol.95 , Issue.8 , pp. 4567-4572
    • Robertson, S.C.1    Meyer, A.N.2    Hart, K.C.3    Galvin, B.D.4    Webster, M.K.5    Donoghue, D.J.6
  • 84
    • 0031005778 scopus 로고    scopus 로고
    • FGFR Activation in Skeletal Disorders: Too Much of a Good Thing
    • M.K. Webster and D.J. Donoghue (1997) FGFR Activation in Skeletal Disorders: Too Much of a Good Thing. Trends Genet. 13(5), 178-182.
    • (1997) Trends Genet. , vol.13 , Issue.5 , pp. 178-182
    • Webster, M.K.1    Donoghue, D.J.2
  • 85
    • 0034687699 scopus 로고    scopus 로고
    • Loss of Fibroblast Growth Factor Receptor 2 Ligand-Binding Specificity in Apert Syndrome
    • K. Yu, A.B. Herr, G. Waksman and D.M. Ornitz (2000) Loss of Fibroblast Growth Factor Receptor 2 Ligand-Binding Specificity in Apert Syndrome. Proc. Natl. Acad Sci. U.S.A. 97(26), 14536-14541.
    • (2000) Proc. Natl. Acad Sci. U.S.A. , vol.97 , Issue.26 , pp. 14536-14541
    • Yu, K.1    Herr, A.B.2    Waksman, G.3    Ornitz, D.M.4
  • 86
    • 0031749743 scopus 로고    scopus 로고
    • Crouzon-Like Craniofacial Dysmorphology in the Mouse is Caused by an Insertional Mutation at the Fgf3/Fgf4 locus
    • M.B. Carlton, W.H. Colledge and M.J. Evans (1998) Crouzon-Like Craniofacial Dysmorphology in the Mouse is Caused by an Insertional Mutation at the Fgf3/Fgf4 locus. Dev. Dyn. 212(2), 242-249.
    • (1998) Dev. Dyn. , vol.212 , Issue.2 , pp. 242-249
    • Carlton, M.B.1    Colledge, W.H.2    Evans, M.J.3
  • 87
    • 4344689004 scopus 로고    scopus 로고
    • A Gain-of-Function Mutation of Fgfr2c Demonstrates the Roles of this Receptor Variant in Osteogenesis
    • V.P. Eswarakumar, M.C. Horowitz, R. Locklin, G.M. Morriss-Kay and P. Lonai (2004) A Gain-of-Function Mutation of Fgfr2c Demonstrates the Roles of this Receptor Variant in Osteogenesis. Proc. Natl. Acad Sci. U.S.A. 101(34), 12555-12560.
    • (2004) Proc. Natl. Acad Sci. U.S.A. , vol.101 , Issue.34 , pp. 12555-12560
    • Eswarakumar, V.P.1    Horowitz, M.C.2    Locklin, R.3    Morriss-Kay, G.M.4    Lonai, P.5
  • 90
    • 34548371795 scopus 로고    scopus 로고
    • RNA Interference and Inhibition of MEK–ERK Signaling Prevent Abnormal Skeletal Phenotypes in a Mouse Model of Craniosynostosis
    • V. Shukla, X. Coumoul, R.H. Wang, H.S. Kim and C.X. Deng (2007) RNA Interference and Inhibition of MEK–ERK Signaling Prevent Abnormal Skeletal Phenotypes in a Mouse Model of Craniosynostosis. Nat. Genet. 39(9), 1145-1150.
    • (2007) Nat. Genet. , vol.39 , Issue.9 , pp. 1145-1150
    • Shukla, V.1    Coumoul, X.2    Wang, R.H.3    Kim, H.S.4    Deng, C.X.5
  • 91
    • 40949140612 scopus 로고    scopus 로고
    • A Pro253Arg Mutation in Fibroblast Growth Factor Receptor 2 (Fgfr2) Causes Skeleton Malformation Mimicking Human Apert Syndrome by Affecting both Chondrogenesis and Osteogenesis
    • L. Yin, X. Du, C.L. Li, X.L. Xu, Z. Chen, N. Su, L. Zhao, H.B. Qi, F.B. Li, J. Xue, et al. (2008) A Pro253Arg Mutation in Fibroblast Growth Factor Receptor 2 (Fgfr2) Causes Skeleton Malformation Mimicking Human Apert Syndrome by Affecting both Chondrogenesis and Osteogenesis. Bone 42(4), 631-643.
    • (2008) Bone , vol.42 , Issue.4 , pp. 631-643
    • Yin, L.1    Du, X.2    Li, C.L.3    Xu, X.L.4    Chen, Z.5    Su, N.6    Zhao, L.7    Qi, H.B.8    Li, F.B.9    Xue, J.10
  • 94
    • 0032578269 scopus 로고    scopus 로고
    • Epidermal Mosaicism Producing Localised Acne: Somatic Mutation in FGFR2
    • C.S. Munro and A.O. Wilkie (1998) Epidermal Mosaicism Producing Localised Acne: Somatic Mutation in FGFR2. Lancet 352(9129), 704-705.
    • (1998) Lancet , vol.352 , Issue.9129 , pp. 704-705
    • Munro, C.S.1    Wilkie, A.O.2
  • 96
    • 0031559395 scopus 로고    scopus 로고
    • Pfeiffer Mutation in an Apert Patient: How Wide Is the Spectrum of Variability due to Mutations in the FGFR2 Gene?
    • M.R. Passos-Bueno, A.L. Sertie, M. Zatz and A. Richieri-Costa (1997) Pfeiffer Mutation in an Apert Patient: How Wide Is the Spectrum of Variability due to Mutations in the FGFR2 Gene? Am. J. Med. Genet. 71(2), 243-245.
    • (1997) Am. J. Med. Genet. , vol.71 , Issue.2 , pp. 243-245
    • Passos-Bueno, M.R.1    Sertie, A.L.2    Zatz, M.3    Richieri-Costa, A.4
  • 98
    • 0036014969 scopus 로고    scopus 로고
    • The Enigma of Ectopic Expression of FGFR3 in Multiple Myeloma: A Critical Initiating Event or Just a Target for Mutational Activation During Tumor Progression
    • M. Chesi, P.L. Bergsagel and W.M. Kuehl (2002) The Enigma of Ectopic Expression of FGFR3 in Multiple Myeloma: A Critical Initiating Event or Just a Target for Mutational Activation During Tumor Progression. Curr. Opin. Hematol. 9(4), 288-293.
    • (2002) Curr. Opin. Hematol. , vol.9 , Issue.4 , pp. 288-293
    • Chesi, M.1    Bergsagel, P.L.2    Kuehl, W.M.3
  • 99
    • 0037337599 scopus 로고    scopus 로고
    • Fibroblast Growth Factors and Their Receptors in Urological Cancers: Basic Research and Clinical Implications
    • M.V. Cronauer, W.A. Schulz, H.H. Seifert, R. Ackermann and M. Burchardt (2003) Fibroblast Growth Factors and Their Receptors in Urological Cancers: Basic Research and Clinical Implications. Eur. Urol. 43(3), 309-319.
    • (2003) Eur. Urol. , vol.43 , Issue.3 , pp. 309-319
    • Cronauer, M.V.1    Schulz, W.A.2    Seifert, H.H.3    Ackermann, R.4    Burchardt, M.5
  • 100
    • 0034467004 scopus 로고    scopus 로고
    • Tyrosine Kinase Signaling in Breast Cancer: Fibroblast Growth Factors and Their Receptors
    • C. Dickson, B. Spencer-Dene, C. Dillon and V. Fantl (2000) Tyrosine Kinase Signaling in Breast Cancer: Fibroblast Growth Factors and Their Receptors. Breast Cancer Res. 2(3), 191-196.
    • (2000) Breast Cancer Res. , vol.2 , Issue.3 , pp. 191-196
    • Dickson, C.1    Spencer-Dene, B.2    Dillon, C.3    Fantl, V.4
  • 101
    • 18144413583 scopus 로고    scopus 로고
    • Fibroblast Growth Factor Signaling in Tumorigenesis
    • R. Grose and C. Dickson (2005) Fibroblast Growth Factor Signaling in Tumorigenesis. Cytokine Growth Factor Rev. 16(2), 179-186.
    • (2005) Cytokine Growth Factor Rev. , vol.16 , Issue.2 , pp. 179-186
    • Grose, R.1    Dickson, C.2
  • 103
    • 0016434225 scopus 로고
    • Older Paternal Age and Fresh Gene Mutation: Data on Additional Disorders
    • K.L. Jones, D.W. Smith, M.A. Harvey, B.D. Hall and L. Quan (1975) Older Paternal Age and Fresh Gene Mutation: Data on Additional Disorders. J. Pediatr. 86(1), 84-88.
    • (1975) J. Pediatr. , vol.86 , Issue.1 , pp. 84-88
    • Jones, K.L.1    Smith, D.W.2    Harvey, M.A.3    Hall, B.D.4    Quan, L.5
  • 107
    • 84856922362 scopus 로고    scopus 로고
    • Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease
    • A. Goriely and A.O. Wilkie (2012) Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease. Am. J. Hum. Genet. 90(2), 175-200.
    • (2012) Am. J. Hum. Genet. , vol.90 , Issue.2 , pp. 175-200
    • Goriely, A.1    Wilkie, A.O.2
  • 108
    • 0029060696 scopus 로고
    • Dorso–Ventral and Rostro–Caudal Sequential Expression of M-Twist in the Postimplantation Murine Embryo
    • C. Stoetzel, B. Weber, P. Bourgeois, A.L. Bolcato-Bellemin and F. Perrin-Schmitt (1995) Dorso–Ventral and Rostro–Caudal Sequential Expression of M-Twist in the Postimplantation Murine Embryo. Mech. Dev. 51(2–3), 251-263.
    • (1995) Mech. Dev. , vol.51 , Issue.2-3 , pp. 251-263
    • Stoetzel, C.1    Weber, B.2    Bourgeois, P.3    Bolcato-Bellemin, A.L.4    Perrin-Schmitt, F.5
  • 109
    • 0028845726 scopus 로고
    • Expression of M-Twist during Postimplantation Development of the Mouse
    • E.M. Fuchtbauer (1995) Expression of M-Twist during Postimplantation Development of the Mouse. Dev. Dyn. 204(3), 316-322.
    • (1995) Dev. Dyn. , vol.204 , Issue.3 , pp. 316-322
    • Fuchtbauer, E.M.1
  • 110
    • 0034002459 scopus 로고    scopus 로고
    • Expression Patterns of Twist and FGFR1, -2 and -3 in the Developing Mouse coronal Suture Suggest a Key Role for Twist in Suture Initiation and Biogenesis
    • D. Johnson, S. Iseki, A.O. Wilkie and G.M. Morriss-Kay (2000) Expression Patterns of Twist and FGFR1, -2 and -3 in the Developing Mouse coronal Suture Suggest a Key Role for Twist in Suture Initiation and Biogenesis. Mech. Dev. 91(1–2), 341-345.
    • (2000) Mech. Dev. , vol.91 , Issue.1-2 , pp. 341-345
    • Johnson, D.1    Iseki, S.2    Wilkie, A.O.3    Morriss-Kay, G.M.4
  • 117
    • 0035213012 scopus 로고    scopus 로고
    • A Survey of TWIST for Mutations in Craniosynostosis Reveals a Variable Length Polyglycine Tract in Asymptomatic Individuals
    • N. Elanko, J.S. Sibbring, K.A. Metcalfe, J. Clayton-Smith, D. Donnai, I.K. Temple, S.A. Wall and A.O. Wilkie (2001) A Survey of TWIST for Mutations in Craniosynostosis Reveals a Variable Length Polyglycine Tract in Asymptomatic Individuals. Hum. Mutat. 18(6), 535-541.
    • (2001) Hum. Mutat. , vol.18 , Issue.6 , pp. 535-541
    • Elanko, N.1    Sibbring, J.S.2    Metcalfe, K.A.3    Clayton-Smith, J.4    Donnai, D.5    Temple, I.K.6    Wall, S.A.7    Wilkie, A.O.8
  • 118
    • 0034028398 scopus 로고    scopus 로고
    • Mutations in the Human TWIST Gene
    • K.W. Gripp, E.H. Zackai and C.A. Stolle (2000) Mutations in the Human TWIST Gene. Hum. Mutat. 15(5), 479.
    • (2000) Hum. Mutat. , vol.15 , Issue.5 , pp. 479
    • Gripp, K.W.1    Zackai, E.H.2    Stolle, C.A.3
  • 122
    • 0031832127 scopus 로고    scopus 로고
    • The Variable Expressivity and Incomplete Penetrance of the Twist-Null Heterozygous Mouse Phenotype Resemble Those of Human Saethre–Chotzen Syndrome
    • P. Bourgeois, A.L. Bolcato-Bellemin, J.M. Danse, A. Bloch-Zupan, K. Yoshiba, C. Stoetzel and F. Perrin-Schmitt (1998) The Variable Expressivity and Incomplete Penetrance of the Twist-Null Heterozygous Mouse Phenotype Resemble Those of Human Saethre–Chotzen Syndrome. Hum. Mol. Genet. 7(6), 945-957.
    • (1998) Hum. Mol. Genet. , vol.7 , Issue.6 , pp. 945-957
    • Bourgeois, P.1    Bolcato-Bellemin, A.L.2    Danse, J.M.3    Bloch-Zupan, A.4    Yoshiba, K.5    Stoetzel, C.6    Perrin-Schmitt, F.7
  • 124
    • 0029800845 scopus 로고    scopus 로고
    • The Molecular Basis of Boston-Type Craniosynostosis: The Pro148––>His Mutation in the N-Terminal Arm of the MSX2 Homeodomain Stabilizes DNA Binding without Altering Nucleotide Sequence Preferences
    • L. Ma, S. Golden, L. Wu and R. Maxson (1996) The Molecular Basis of Boston-Type Craniosynostosis: The Pro148––>His Mutation in the N-Terminal Arm of the MSX2 Homeodomain Stabilizes DNA Binding without Altering Nucleotide Sequence Preferences. Hum. Mol. Genet. 5(12), 1915-1920.
    • (1996) Hum. Mol. Genet. , vol.5 , Issue.12 , pp. 1915-1920
    • Ma, L.1    Golden, S.2    Wu, L.3    Maxson, R.4
  • 125
    • 4444305202 scopus 로고    scopus 로고
    • Craniosynostosis with Extra Copy of MSX2 in a Patient with Partial 5q-Trisomy
    • T. Shiihara, M. Kato, T. Kimura, K. Hayasaka, S. Yamamori and T. Ogata (2004) Craniosynostosis with Extra Copy of MSX2 in a Patient with Partial 5q-Trisomy. Am. J. Med. Genet. A 128A(2), 214-216.
    • (2004) Am. J. Med. Genet. A , vol.128A , Issue.2 , pp. 214-216
    • Shiihara, T.1    Kato, M.2    Kimura, T.3    Hayasaka, K.4    Yamamori, S.5    Ogata, T.6
  • 126
    • 0029031566 scopus 로고
    • Premature Suture Closure and Ectopic Cranial Bone in Mice Expressing Msx2 Transgenes in the Developing Skull
    • Y.H. Liu, R. Kundu, L. Wu, W. Luo, M.A. Ignelzi Jr., M.L. Snead and R.E. Maxson Jr. (1995) Premature Suture Closure and Ectopic Cranial Bone in Mice Expressing Msx2 Transgenes in the Developing Skull. Proc. Natl. Acad. Sci. U.S.A. 92(13), 6137-6141.
    • (1995) Proc. Natl. Acad. Sci. U.S.A. , vol.92 , Issue.13 , pp. 6137-6141
    • Liu, Y.H.1    Kundu, R.2    Wu, L.3    Luo, W.4    Ignelzi, M.A.5    Snead, M.L.6    Maxson, R.E.7
  • 132
    • 3042599056 scopus 로고    scopus 로고
    • Alx4 and Msx2 Play Phenotypically Similar and Additive Roles in Skull Vault Differentiation
    • I. Antonopoulou, L.A. Mavrogiannis, A.O. Wilkie and G.M. Morriss-Kay (2004) Alx4 and Msx2 Play Phenotypically Similar and Additive Roles in Skull Vault Differentiation. J. Anat. 204(6), 487-499.
    • (2004) J. Anat. , vol.204 , Issue.6 , pp. 487-499
    • Antonopoulou, I.1    Mavrogiannis, L.A.2    Wilkie, A.O.3    Morriss-Kay, G.M.4
  • 133
    • 0036303033 scopus 로고    scopus 로고
    • Mechanisms and Functions of Eph and Ephrin Signaling
    • K. Kullander and R. Klein (2002) Mechanisms and Functions of Eph and Ephrin Signaling. Nat. Rev. Mol. Cell Biol. 3(7), 475-486.
    • (2002) Nat. Rev. Mol. Cell Biol. , vol.3 , Issue.7 , pp. 475-486
    • Kullander, K.1    Klein, R.2
  • 134
    • 0035287473 scopus 로고    scopus 로고
    • Multiple Roles of EPH Receptors and Ephrins in Neural Development
    • D.G. Wilkinson (2001) Multiple Roles of EPH Receptors and Ephrins in Neural Development. Nat. Rev. Neurosci. 2(3), 155-164.
    • (2001) Nat. Rev. Neurosci. , vol.2 , Issue.3 , pp. 155-164
    • Wilkinson, D.G.1
  • 136
    • 0042442460 scopus 로고    scopus 로고
    • Control of Skeletal Patterning by Ephrinb1–EphB Interactions
    • A. Compagni, M. Logan, R. Klein and R.H. Adams (2003) Control of Skeletal Patterning by Ephrinb1–EphB Interactions. Dev. Cell 5(2), 217-230.
    • (2003) Dev. Cell , vol.5 , Issue.2 , pp. 217-230
    • Compagni, A.1    Logan, M.2    Klein, R.3    Adams, R.H.4
  • 138
    • 0037364415 scopus 로고    scopus 로고
    • RecQ Helicases: Caretakers of the Genome
    • I.D. Hickson (2003) RecQ Helicases: Caretakers of the Genome. Nat. Rev. Cancer 3(3), 169-178.
    • (2003) Nat. Rev. Cancer , vol.3 , Issue.3 , pp. 169-178
    • Hickson, I.D.1
  • 139
    • 19544366597 scopus 로고    scopus 로고
    • RECQL4, Mutated in the Rothmund–Thomson and RAPADILINO Syndromes, Interacts with Ubiquitin Ligases UBR1 and UBR2 of the N-End Rule Pathway
    • J. Yin, Y.T. Kwon, A. Varshavsky and W. Wang (2004) RECQL4, Mutated in the Rothmund–Thomson and RAPADILINO Syndromes, Interacts with Ubiquitin Ligases UBR1 and UBR2 of the N-End Rule Pathway. Hum. Mol. Genet. 13(20), 2421-2430.
    • (2004) Hum. Mol. Genet. , vol.13 , Issue.20 , pp. 2421-2430
    • Yin, J.1    Kwon, Y.T.2    Varshavsky, A.3    Wang, W.4
  • 141
    • 15544389502 scopus 로고    scopus 로고
    • Defective Sister-Chromatid Cohesion, Aneuploidy and Cancer Predisposition in a Mouse Model of Type II Rothmund–Thomson Syndrome
    • M.B. Mann, C.A. Hodges, E. Barnes, H. Vogel, T.J. Hassold and G. Luo (2005) Defective Sister-Chromatid Cohesion, Aneuploidy and Cancer Predisposition in a Mouse Model of Type II Rothmund–Thomson Syndrome. Hum. Mol. Genet. 14(6), 813-825.
    • (2005) Hum. Mol. Genet. , vol.14 , Issue.6 , pp. 813-825
    • Mann, M.B.1    Hodges, C.A.2    Barnes, E.3    Vogel, H.4    Hassold, T.J.5    Luo, G.6
  • 142
    • 0041468898 scopus 로고    scopus 로고
    • Identification of Novel Roles of the Cytochrome p.450 System in Early Embryogenesis: Effects on Vasculogenesis and Retinoic Acid Homeostasis
    • D.M. Otto, C.J. Henderson, D. Carrie, M. Davey, T.E. Gundersen, R. Blomhoff, R.H. Adams, C. Tickle and C.R. Wolf (2003) Identification of Novel Roles of the Cytochrome p.450 System in Early Embryogenesis: Effects on Vasculogenesis and Retinoic Acid Homeostasis. Mol. Cell Biol. 23(17), 6103-6116.
    • (2003) Mol. Cell Biol. , vol.23 , Issue.17 , pp. 6103-6116
    • Otto, D.M.1    Henderson, C.J.2    Carrie, D.3    Davey, M.4    Gundersen, T.E.5    Blomhoff, R.6    Adams, R.H.7    Tickle, C.8    Wolf, C.R.9
  • 143
    • 0037155271 scopus 로고    scopus 로고
    • Association of Multiple Developmental Defects and Embryonic Lethality with Loss of Microsomal NADPH-Cytochrome P450 Oxidoreductase
    • A.L. Shen, K.A. O’Leary and C.B. Kasper (2002) Association of Multiple Developmental Defects and Embryonic Lethality with Loss of Microsomal NADPH-Cytochrome P450 Oxidoreductase. J. Biol. Chem. 277(8), 6536-6541.
    • (2002) J. Biol. Chem. , vol.277 , Issue.8 , pp. 6536-6541
    • Shen, A.L.1    O’Leary, K.A.2    Kasper, C.B.3
  • 144
    • 3342918965 scopus 로고    scopus 로고
    • Compound Heterozygous Mutations of Cytochrome P450 Oxidoreductase Gene (POR) in Two Patients with Antley–Bixler Syndrome
    • M. Adachi, K. Tachibana, Y. Asakura, T. Yamamoto, K. Hanaki and A. Oka (2004) Compound Heterozygous Mutations of Cytochrome P450 Oxidoreductase Gene (POR) in Two Patients with Antley–Bixler Syndrome. Am. J. Med. Genet. A 128A(4), 333-339.
    • (2004) Am. J. Med. Genet. A , vol.128A , Issue.4 , pp. 333-339
    • Adachi, M.1    Tachibana, K.2    Asakura, Y.3    Yamamoto, T.4    Hanaki, K.5    Oka, A.6
  • 145
    • 19944429961 scopus 로고    scopus 로고
    • Cytochrome P450 Oxidoreductase Gene Mutations and Antley–Bixler Syndrome with Abnormal Genitalia and/or Impaired Steroidogenesis: Molecular and Clinical Studies in 10 Patients
    • M. Fukami, R. Horikawa, T. Nagai, T. Tanaka, Y. Naiki, N. Sato, T. Okuyama, H. Nakai, S. Soneda, K. Tachibana, et al. (2005) Cytochrome P450 Oxidoreductase Gene Mutations and Antley–Bixler Syndrome with Abnormal Genitalia and/or Impaired Steroidogenesis: Molecular and Clinical Studies in 10 Patients. J. Clin. Endocrinol. Metab. 90(1), 414-426.
    • (2005) J. Clin. Endocrinol. Metab. , vol.90 , Issue.1 , pp. 414-426
    • Fukami, M.1    Horikawa, R.2    Nagai, T.3    Tanaka, T.4    Naiki, Y.5    Sato, N.6    Okuyama, T.7    Nakai, H.8    Soneda, S.9    Tachibana, K.10
  • 147
    • 22944444569 scopus 로고    scopus 로고
    • Structural Basis of Family-Wide Rab GTPase Recognition by Rabenosyn-5
    • S. Eathiraj, X. Pan, C. Ritacco and D.G. Lambright (2005) Structural Basis of Family-Wide Rab GTPase Recognition by Rabenosyn-5. Nature 436(7049), 415-419.
    • (2005) Nature , vol.436 , Issue.7049 , pp. 415-419
    • Eathiraj, S.1    Pan, X.2    Ritacco, C.3    Lambright, D.G.4
  • 148
    • 0035798385 scopus 로고    scopus 로고
    • Evolution of the Rab Family of Small GTP-Binding Proteins
    • J.B. Pereira-Leal and M.C. Seabra (2001) Evolution of the Rab Family of Small GTP-Binding Proteins. J. Mol. Biol. 313(4), 889-901.
    • (2001) J. Mol. Biol. , vol.313 , Issue.4 , pp. 889-901
    • Pereira-Leal, J.B.1    Seabra, M.C.2
  • 149
    • 0034714098 scopus 로고    scopus 로고
    • The Mammalian Rab Family of Small GTPases: Definition of Family and Subfamily Sequence Motifs Suggests a Mechanism for Functional Specificity in the Ras Superfamily
    • J.B. Pereira-Leal and M.C. Seabra (2000) The Mammalian Rab Family of Small GTPases: Definition of Family and Subfamily Sequence Motifs Suggests a Mechanism for Functional Specificity in the Ras Superfamily. J. Mol. Biol. 301(4), 1077-1087.
    • (2000) J. Mol. Biol. , vol.301 , Issue.4 , pp. 1077-1087
    • Pereira-Leal, J.B.1    Seabra, M.C.2
  • 150
    • 30444458514 scopus 로고    scopus 로고
    • Expression Patterns of Hedgehog Signaling Pathway Members during Mouse Palate Development
    • R. Rice, E. Connor and D.P. Rice (2006) Expression Patterns of Hedgehog Signaling Pathway Members during Mouse Palate Development. Gene Expr. Patterns 6(2), 206-212.
    • (2006) Gene Expr. Patterns , vol.6 , Issue.2 , pp. 206-212
    • Rice, R.1    Connor, E.2    Rice, D.P.3
  • 151
    • 0032560518 scopus 로고    scopus 로고
    • A Phenotype-Based Screen for Embryonic Lethal Mutations in the Mouse
    • A. Kasarskis, K. Manova and K.V. Anderson (1998) A Phenotype-Based Screen for Embryonic Lethal Mutations in the Mouse. Proc. Natl. Acad. Sci. U.S.A. 95(13), 7485-7490.
    • (1998) Proc. Natl. Acad. Sci. U.S.A. , vol.95 , Issue.13 , pp. 7485-7490
    • Kasarskis, A.1    Manova, K.2    Anderson, K.V.3
  • 152
    • 33745261812 scopus 로고    scopus 로고
    • GL13 and the Pallister–Hall and Greig Cephalopolysyndactyly Syndromes
    • M.P. Epstein, R.P. Erickson, A. Wynshaw-Boris (Eds), Oxford, United Kingdom: Oxford University Press
    • L.G. Biesecker (2004) GL13 and the Pallister–Hall and Greig Cephalopolysyndactyly Syndromes. M.P. Epstein, R.P. Erickson, A. Wynshaw-Boris (Eds) Inborn Errors of Development Oxford, United Kingdom: Oxford University Press 257-264.
    • (2004) Inborn Errors of Development , pp. 257-264
    • Biesecker, L.G.1
  • 155
    • 0029152872 scopus 로고
    • Interleukin (IL)-11-Mediated Signal Transduction
    • discussion 40–31
    • Y.C. Yang and T. Yin (1995) Interleukin (IL)-11-Mediated Signal Transduction. Ann. N.Y.Acad. Sci. 762 31-40. discussion 40–31
    • (1995) Ann. N.Y.Acad. Sci. , vol.762 , pp. 31-40
    • Yang, Y.C.1    Yin, T.2
  • 156
    • 69249214104 scopus 로고    scopus 로고
    • gp130 Signaling in Bone Cell Biology: Multiple Roles Revealed by Analysis of Genetically Altered Mice
    • N.A. Sims (2009) gp130 Signaling in Bone Cell Biology: Multiple Roles Revealed by Analysis of Genetically Altered Mice. Mol. Cell. Endocrinol. 310(1–2), 30-39.
    • (2009) Mol. Cell. Endocrinol. , vol.310 , Issue.1-2 , pp. 30-39
    • Sims, N.A.1
  • 160
    • 77957890636 scopus 로고    scopus 로고
    • Jagged1 Functions Downstream of Twist1 in the Specification of the Coronal suture and the Formation of a Boundary between Osteogenic and Non-Osteogenic Cells
    • H.Y. Yen, M.C. Ting and R.E. Maxson (2010) Jagged1 Functions Downstream of Twist1 in the Specification of the Coronal suture and the Formation of a Boundary between Osteogenic and Non-Osteogenic Cells. Dev. Biol. 347(2), 258-270.
    • (2010) Dev. Biol. , vol.347 , Issue.2 , pp. 258-270
    • Yen, H.Y.1    Ting, M.C.2    Maxson, R.E.3
  • 163
    • 33746641694 scopus 로고    scopus 로고
    • Opitz Trigonocephaly C Syndrome in a Boy with a De Novo Balanced Reciprocal Translocation t(3;18)(q13.13;q12.1)
    • Y. Chinen, T. Kaname, K. Yanagi, N. Saito, K. Naritomi and T. Ohta (2006) Opitz Trigonocephaly C Syndrome in a Boy with a De Novo Balanced Reciprocal Translocation t(3;18)(q13.13;q12.1). Am. J. Med. Genet. A 140(15), 1655-1657.
    • (2006) Am. J. Med. Genet. A , vol.140 , Issue.15 , pp. 1655-1657
    • Chinen, Y.1    Kaname, T.2    Yanagi, K.3    Saito, N.4    Naritomi, K.5    Ohta, T.6
  • 165
  • 167
    • 80053437424 scopus 로고    scopus 로고
    • Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice
    • L.E. Vissers, T.C. Cox, A.M. Maga, K.M. Short, F. Wiradjaja, I.M. Janssen, F. Jehee, D. Bertola, J. Liu, G. Yagnik, et al. (2011) Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice. Plos Genet. 7(9), E1002278.
    • (2011) Plos Genet. , vol.7 , Issue.9 , pp. E1002278
    • Vissers, L.E.1    Cox, T.C.2    Maga, A.M.3    Short, K.M.4    Wiradjaja, F.5    Janssen, I.M.6    Jehee, F.7    Bertola, D.8    Liu, J.9    Yagnik, G.10
  • 168
    • 0019507813 scopus 로고
    • A Recognizable Phenotype in a Child with Partial Duplication 13q in a Family with t(10q;13q)
    • L. Hornstein and S. Soukup (1981) A Recognizable Phenotype in a Child with Partial Duplication 13q in a Family with t(10q;13q). Clin. Genet. 19(2), 81-86.
    • (1981) Clin. Genet. , vol.19 , Issue.2 , pp. 81-86
    • Hornstein, L.1    Soukup, S.2
  • 171
    • 35248824139 scopus 로고    scopus 로고
    • Genetic Analysis of Non-Syndromic Craniosynostosis
    • S.A. Boyadjiev (2007) Genetic Analysis of Non-Syndromic Craniosynostosis. Orthod. Craniofac. Res. 10(3), 129-137.
    • (2007) Orthod. Craniofac. Res. , vol.10 , Issue.3 , pp. 129-137
    • Boyadjiev, S.A.1
  • 172
    • 3242691642 scopus 로고    scopus 로고
    • Molecular Analysis of Patients with Synostotic Frontal Plagiocephaly (Unilateral Coronal Synostosis)
    • J.B. Mulliken, K.W. Gripp, C.A. Stolle, D. Steinberger and U. Muller (2004) Molecular Analysis of Patients with Synostotic Frontal Plagiocephaly (Unilateral Coronal Synostosis). Plast. Reconstr. Surg. 113(7), 1899-1909.
    • (2004) Plast. Reconstr. Surg. , vol.113 , Issue.7 , pp. 1899-1909
    • Mulliken, J.B.1    Gripp, K.W.2    Stolle, C.A.3    Steinberger, D.4    Muller, U.5
  • 173
    • 0034069610 scopus 로고    scopus 로고
    • Fibroblast Growth Factor Receptor 3 Mutation in Non-Syndromic Coronal Synostosis: Clinical Spectrum, Prevalence, and Surgical Outcome
    • D. Renier, V. El-Ghouzzi, J. Bonaventure, M. Le Merrer and E. Lajeunie (2000) Fibroblast Growth Factor Receptor 3 Mutation in Non-Syndromic Coronal Synostosis: Clinical Spectrum, Prevalence, and Surgical Outcome. J. Neurosurg. 92(4), 631-636.
    • (2000) J. Neurosurg. , vol.92 , Issue.4 , pp. 631-636
    • Renier, D.1    El-Ghouzzi, V.2    Bonaventure, J.3    Le Merrer, M.4    Lajeunie, E.5
  • 174
    • 0035657960 scopus 로고    scopus 로고
    • Clinical Characteristics of Patients with Unicoronal Synostosis and Mutations of Fibroblast Growth Factor Receptor 3: A Preliminary Report
    • L.B. Cassileth, S.P. Bartlett, P.M. Glat, K.W. Gripp, M. Muenke, E.H. Zackai and L.A. Whitaker (2001) Clinical Characteristics of Patients with Unicoronal Synostosis and Mutations of Fibroblast Growth Factor Receptor 3: A Preliminary Report. Plast. Reconstr. Surg. 108(7), 1849-1854.
    • (2001) Plast. Reconstr. Surg. , vol.108 , Issue.7 , pp. 1849-1854
    • Cassileth, L.B.1    Bartlett, S.P.2    Glat, P.M.3    Gripp, K.W.4    Muenke, M.5    Zackai, E.H.6    Whitaker, L.A.7
  • 175
    • 0036292940 scopus 로고    scopus 로고
    • Postoperative Mental and Morphological Outcome for Non-Syndromic Brachycephaly
    • discussion 13
    • E. Arnaud, P. Meneses, E. Lajeunie, J.A. Thorne, D. Marchac and D. Renier (2002) Postoperative Mental and Morphological Outcome for Non-Syndromic Brachycephaly. Plast. Reconstr. Surg. 110(1), 6-12. discussion 13
    • (2002) Plast. Reconstr. Surg. , vol.110 , Issue.1 , pp. 6-12
    • Arnaud, E.1    Meneses, P.2    Lajeunie, E.3    Thorne, J.A.4    Marchac, D.5    Renier, D.6
  • 176
    • 18144381751 scopus 로고    scopus 로고
    • FGFR3 P250R Mutation Increases the Risk of Reoperation in Apparent “Nonsyndromic” coronal Craniosynostosis
    • discussion 353–344
    • G.P. Thomas, A.O. Wilkie, P.G. Richards and S.A. Wall (2005) FGFR3 P250R Mutation Increases the Risk of Reoperation in Apparent “Nonsyndromic” coronal Craniosynostosis. J. Craniofac. Surg. 16(3), 347-352. discussion 353–344
    • (2005) J. Craniofac. Surg. , vol.16 , Issue.3 , pp. 347-352
    • Thomas, G.P.1    Wilkie, A.O.2    Richards, P.G.3    Wall, S.A.4
  • 177
    • 0033870788 scopus 로고    scopus 로고
    • A Novel Mutation, Ala315Ser, in FGFR2: A Gene-Environment Interaction Leading to Craniosynostosis?
    • D. Johnson, S.A. Wall, S. Mann and A.O. Wilkie (2000) A Novel Mutation, Ala315Ser, in FGFR2: A Gene-Environment Interaction Leading to Craniosynostosis? Eur. J. Hum. Genet. 8(8), 571-577.
    • (2000) Eur. J. Hum. Genet. , vol.8 , Issue.8 , pp. 571-577
    • Johnson, D.1    Wall, S.A.2    Mann, S.3    Wilkie, A.O.4
  • 181
    • 0034485778 scopus 로고    scopus 로고
    • An Unusual FGFR1 Mutation (Fibroblast Growth Factor Receptor 1 Mutation) in a Girl with Non-Syndromic Trigonocephaly
    • W. Kress, B. Petersen, H. Collmann and T. Grimm (2000) An Unusual FGFR1 Mutation (Fibroblast Growth Factor Receptor 1 Mutation) in a Girl with Non-Syndromic Trigonocephaly. Cytogenet. Cell Genet. 91(1–4), 138-140.
    • (2000) Cytogenet. Cell Genet. , vol.91 , Issue.1-4 , pp. 138-140
    • Kress, W.1    Petersen, B.2    Collmann, H.3    Grimm, T.4
  • 183
    • 84870506995 scopus 로고    scopus 로고
    • A Genome-Wide Association Study Identifies Susceptibility Loci for Non-Syndromic Sagittal Craniosynostosis on Chromosomes 20 and 7
    • C.M. Justice, G. Yagnik, Y. Kim, I. Peter, E.W. Jabs, M. Erazo, X. Ye, E. Ainehsazan, L. Shi, M.L. Cunningham, et al. (2012) A Genome-Wide Association Study Identifies Susceptibility Loci for Non-Syndromic Sagittal Craniosynostosis on Chromosomes 20 and 7. Nat. Genet. 44(12), 1360-1364.
    • (2012) Nat. Genet. , vol.44 , Issue.12 , pp. 1360-1364
    • Justice, C.M.1    Yagnik, G.2    Kim, Y.3    Peter, I.4    Jabs, E.W.5    Erazo, M.6    Ye, X.7    Ainehsazan, E.8    Shi, L.9    Cunningham, M.L.10
  • 185
    • 0029876886 scopus 로고    scopus 로고
    • An Increase in Infant Cranial Deformity with Supine Sleeping Position
    • L.C. Argenta, L.R. David, J.A. Wilson and W.O. Bell (1996) An Increase in Infant Cranial Deformity with Supine Sleeping Position. J. Craniofac. Surg. 7(1), 5-11.
    • (1996) J. Craniofac. Surg. , vol.7 , Issue.1 , pp. 5-11
    • Argenta, L.C.1    David, L.R.2    Wilson, J.A.3    Bell, W.O.4
  • 186
    • 0029998298 scopus 로고    scopus 로고
    • Observations on a Recent Increase in Plagiocephaly without Synostosis
    • A.A. Kane, L.E. Mitchell, K.P. Craven and J.L. Marsh (1996) Observations on a Recent Increase in Plagiocephaly without Synostosis. Pediatrics 97(6 Pt 1), 877-885.
    • (1996) Pediatrics , vol.97 , Issue.6 , pp. 877-885
    • Kane, A.A.1    Mitchell, L.E.2    Craven, K.P.3    Marsh, J.L.4
  • 187
    • 0029940878 scopus 로고    scopus 로고
    • The “Back to Sleep Campaign” and Deformational Plagiocephaly: Is There Cause for Concern?
    • A.E. Turk, J.G. McCarthy, C.H. Thorne and J.H. Wisoff (1996) The “Back to Sleep Campaign” and Deformational Plagiocephaly: Is There Cause for Concern? J. Craniofac. Surg. 7(1), 12-18.
    • (1996) J. Craniofac. Surg. , vol.7 , Issue.1 , pp. 12-18
    • Turk, A.E.1    McCarthy, J.G.2    Thorne, C.H.3    Wisoff, J.H.4


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