메뉴 건너뛰기




Volumn 67, Issue 6, 2005, Pages 503-510

Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly

Author keywords

Craniosynostosis; Deletion 11q; Deletion 9p; Metopic suture; Trigonocephaly

Indexed keywords

ARTICLE; CHROMOSOME 11Q; CHROMOSOME 9P; CHROMOSOME DELETION; CLINICAL FEATURE; COHORT ANALYSIS; CRANIOFACIAL SYNOSTOSIS; FEMALE; GENE FUNCTION; GENETIC SCREENING; HUMAN; KARYOTYPE; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; PATHOPHYSIOLOGY; PEDIGREE ANALYSIS; POPULATION RESEARCH; PRIORITY JOURNAL; RACE DIFFERENCE; SEX DIFFERENCE; TRIGONOCEPHALY; X CHROMOSOME DOMINANT INHERITANCE;

EID: 21044450819     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00438.x     Document Type: Article
Times cited : (48)

References (22)
  • 2
    • 0031963105 scopus 로고    scopus 로고
    • Syndromal and nonsyndromal primary trigonocephaly: Analysis of a series of 237 patients
    • Lajeunie E, Le Merrer M, Marchac D, Renier D. Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients. Am J Med Genet 1998: 2: 211-215.
    • (1998) Am. J. Med. Genet. , vol.2 , pp. 211-215
    • Lajeunie, E.1    Le Merrer, M.2    Marchac, D.3    Renier, D.4
  • 3
    • 0041819790 scopus 로고    scopus 로고
    • Clinical and genetic aspects of trigonocephaly: A study of 25 cases
    • Azimi C, Kennedy SJ, Chitayat D et al. Clinical and genetic aspects of trigonocephaly: a study of 25 cases. Am J Med Genet A 2003: 117 (2): 127-135.
    • (2003) Am. J. Med. Genet. A , vol.117 , Issue.2 , pp. 127-135
    • Azimi, C.1    Kennedy, S.J.2    Chitayat, D.3
  • 5
    • 0024998197 scopus 로고
    • Autosomal dominant craniosynostosis of the sutura metopica
    • Hennekam RCM, Van den Boogaard MJ. Autosomal dominant craniosynostosis of the sutura metopica. Clin Genet 1990: 38: 374-377.
    • (1990) Clin. Genet. , vol.38 , pp. 374-377
    • Hennekam, R.C.M.1    Van den Boogaard, M.J.2
  • 6
    • 0019487525 scopus 로고
    • Familial trigonocephaly associated with short stature and developmental delay
    • Say B, Meyer J. Familial trigonocephaly associated with short stature and developmental delay. Am J Dis Child 1981: 135 (8): 711-712.
    • (1981) Am. J. Dis. Child. , vol.135 , Issue.8 , pp. 711-712
    • Say, B.1    Meyer, J.2
  • 8
    • 0342467828 scopus 로고    scopus 로고
    • Metopic suture craniosynostosis: Sodium valproate teratogenic effect. Case report
    • Assencio-Ferreira VJ, Abraham R, Veiga JC, Santos KC. Metopic suture craniosynostosis: sodium valproate teratogenic effect. Case report. Arq Neuropsiquiatr 2001: 59 (2-B): 417-420.
    • (2001) Arq. Neuropsiquiatr. , vol.59 , Issue.2 B , pp. 417-420
    • Assencio-Ferreira, V.J.1    Abraham, R.2    Veiga, J.C.3    Santos, K.C.4
  • 9
    • 0035043261 scopus 로고    scopus 로고
    • Toward an understanding of nonsyndromic craniosynostosis: Altered patterns of TGF-β receptor and FGF receptor expression induced by intrauterine head constraint
    • Hunenko O, Karmacharya J, Ong G, Kirschner RE. Toward an understanding of nonsyndromic craniosynostosis: altered patterns of TGF-β receptor and FGF receptor expression induced by intrauterine head constraint. Ann Plast Surg 2001: 46: 546-554.
    • (2001) Ann. Plast. Surg. , vol.46 , pp. 546-554
    • Hunenko, O.1    Karmacharya, J.2    Ong, G.3    Kirschner, R.E.4
  • 12
    • 0028811078 scopus 로고
    • Two craniosynostotic patients with 11q deletions, and review of 48 cases
    • Lewanda AF, Morsey S, Reid CS, Jabs EW. Two craniosynostotic patients with 11q deletions, and review of 48 cases. Am J Med Genet 1995: 59 (2): 193-198.
    • (1995) Am. J. Med. Genet. , vol.59 , Issue.2 , pp. 193-198
    • Lewanda, A.F.1    Morsey, S.2    Reid, C.S.3    Jabs, E.W.4
  • 13
    • 0028910140 scopus 로고
    • Clinical and molecular characterization of patients with distal 11q deletions
    • Penny L, Dell'Aquila M, Jones M et al. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet 1995: 56: 676-683.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 676-683
    • Penny, L.1    Dell'Aquila, M.2    Jones, M.3
  • 14
    • 0028241918 scopus 로고
    • Six cases of 7p deletion: Clinical, cytogenetic and molecular studies
    • Chotai KA, Brueton LA, van Herwerden L et al. Six cases of 7p deletion: clinical, cytogenetic and molecular studies. Am J Med Genet 1994: 51: 270-276.
    • (1994) Am. J. Med. Genet. , vol.51 , pp. 270-276
    • Chotai, K.A.1    Brueton, L.A.2    van Herwerden, L.3
  • 15
    • 0033357990 scopus 로고    scopus 로고
    • Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome
    • Christ LA, Crowe CA, Micale MA, Conroy J, Schwartz S. Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome. Am J Hum Genet 1999: 65: 1387-1395.
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 1387-1395
    • Christ, L.A.1    Crowe, C.A.2    Micale, M.A.3    Conroy, J.4    Schwartz, S.5
  • 17
    • 16944366964 scopus 로고    scopus 로고
    • Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function
    • Skuse DH, James RS, Bishop DV et al. Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function. Nature 1997: 387 (6634): 705-708.
    • (1997) Nature , vol.387 , Issue.6634 , pp. 705-708
    • Skuse, D.H.1    James, R.S.2    Bishop, D.V.3
  • 18
    • 20244366799 scopus 로고    scopus 로고
    • Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
    • (Epub 10 March 2003)
    • Dode C, Levilliers J, Dupont JM et al. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet 2003: 33 (4): 463-465 (Epub 10 March 2003).
    • (2003) Nat. Genet. , vol.33 , Issue.4 , pp. 463-465
    • Dode, C.1    Levilliers, J.2    Dupont, J.M.3
  • 21
    • 0035344660 scopus 로고    scopus 로고
    • Chromosome 22q11 microdeletion in conotruncal heart defects: Clinical presentation, parental origin and de novo mutations
    • Chung MY, Lu JH, Chien HP, Hwang B. Chromosome 22q11 microdeletion in conotruncal heart defects: clinical presentation, parental origin and de novo mutations. Int J Mol Med 2001: 7 (5): 501-505.
    • (2001) Int. J. Mol. Med. , vol.7 , Issue.5 , pp. 501-505
    • Chung, M.Y.1    Lu, J.H.2    Chien, H.P.3    Hwang, B.4
  • 22
    • 0035078603 scopus 로고    scopus 로고
    • Clinical and molecular characterisation of 80 patients with 5p deletion: Genotype-phenotype correlation
    • Mainardi PC, Perfumo C, Cali A et al. Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet 2001: 38 (3): 151-158.
    • (2001) J. Med. Genet. , vol.38 , Issue.3 , pp. 151-158
    • Mainardi, P.C.1    Perfumo, C.2    Cali, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.