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Volumn 66, Issue 1, 2000, Pages 93-97

A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME BREAKAGE; GENE DELETION; GENE LOCUS; GENE MAPPING; HUMAN; MENTAL RETARDATION MALFORMATION SYNDROME; NEUROFIBROMATOSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

EID: 0034657340     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.2000.6179     Document Type: Article
Times cited : (34)

References (16)
  • 1
    • 0030984645 scopus 로고    scopus 로고
    • Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion
    • Ainsworth P. J., Chakraborty P. K., Weksberg R. Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion. Hum. Mutat. 9:1997;452-457.
    • (1997) Hum. Mutat. , vol.9 , pp. 452-457
    • Ainsworth, P.J.1    Chakraborty, P.K.2    Weksberg, R.3
  • 2
    • 0030881588 scopus 로고    scopus 로고
    • Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
    • Chen K. S., Manian P., Koeuth T., Potocki L., Zhao Q., Chinault A. C., Lee C. C., Lupski J. R. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat. Genet. 17:1997;154-163.
    • (1997) Nat. Genet. , vol.17 , pp. 154-163
    • Chen, K.S.1    Manian, P.2    Koeuth, T.3    Potocki, L.4    Zhao, Q.5    Chinault, A.C.6    Lee, C.C.7    Lupski, J.R.8
  • 4
    • 0033358588 scopus 로고    scopus 로고
    • Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome
    • Edelmann L., Pandita R. K., Morrow B. E. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am. J. Hum. Genet. 64:1999;1076-1086.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 1076-1086
    • Edelmann, L.1    Pandita, R.K.2    Morrow, B.E.3
  • 5
    • 0026641270 scopus 로고
    • Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism
    • Kayes L. M., Riccardi V. M., Burke W., Bennett R. L., Stephens K. Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism. J. Med. Genet. 29:1992;686-690.
    • (1992) J. Med. Genet. , vol.29 , pp. 686-690
    • Kayes, L.M.1    Riccardi, V.M.2    Burke, W.3    Bennett, R.L.4    Stephens, K.5
  • 9
    • 0030783781 scopus 로고    scopus 로고
    • Familial neurofibromatosis 1 microdeletions: Cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata
    • Leppig K. A., Kaplan P., Viskochil D., Weaver M., Ortenberg J., Stephens K. Familial neurofibromatosis 1 microdeletions: Cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata. Am. J. Med. Genet. 73:1997;197-204.
    • (1997) Am. J. Med. Genet. , vol.73 , pp. 197-204
    • Leppig, K.A.1    Kaplan, P.2    Viskochil, D.3    Weaver, M.4    Ortenberg, J.5    Stephens, K.6
  • 12
    • 0030063783 scopus 로고    scopus 로고
    • A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay
    • Upadhyaya M., Roberts S. H., Maynard J., Sorour E., Thompson P. W., Vaughan M., Wilkie A. O., Hughes H. E. A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay. J. Med. Genet. 33:1996;148-152.
    • (1996) J. Med. Genet. , vol.33 , pp. 148-152
    • Upadhyaya, M.1    Roberts, S.H.2    Maynard, J.3    Sorour, E.4    Thompson, P.W.5    Vaughan, M.6    Wilkie, A.O.7    Hughes, H.E.8
  • 13
    • 0031744843 scopus 로고    scopus 로고
    • Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay
    • Upadhyaya M., Ruggieri M., Maynard J., Osborn M., Hartog C., Mudd S., Penttinen M., Cordeiro I., Ponder M., Ponder B. A., Krawczak M., Cooper D. N. Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Hum. Genet. 102:1998;591-597.
    • (1998) Hum. Genet. , vol.102 , pp. 591-597
    • Upadhyaya, M.1    Ruggieri, M.2    Maynard, J.3    Osborn, M.4    Hartog, C.5    Mudd, S.6    Penttinen, M.7    Cordeiro, I.8    Ponder, M.9    Ponder, B.A.10    Krawczak, M.11    Cooper, D.N.12
  • 14
    • 0030969205 scopus 로고    scopus 로고
    • Identification of de novo deletions at the NF1 gene: No preferential paternal origin and phenotypic analysis of patients
    • Valero M. C., Pascual-Castroviejo I., Velasco E., Moreno F., Hernandez-Chico C. Identification of de novo deletions at the NF1 gene: No preferential paternal origin and phenotypic analysis of patients. Hum. Genet. 99:1997;720-726.
    • (1997) Hum. Genet. , vol.99 , pp. 720-726
    • Valero, M.C.1    Pascual-Castroviejo, I.2    Velasco, E.3    Moreno, F.4    Hernandez-Chico, C.5
  • 15
    • 0028799029 scopus 로고
    • Deletion of the entire NF1 gene detected by FISH: Four deletion patients associated with severe manifestations
    • Wu B. L., Austin M. A., Schneider G. H., Boles R. G., Korf B. R. Deletion of the entire NF1 gene detected by FISH: Four deletion patients associated with severe manifestations. Am. J. Med. Genet. 59:1995;528-535.
    • (1995) Am. J. Med. Genet. , vol.59 , pp. 528-535
    • Wu, B.L.1    Austin, M.A.2    Schneider, G.H.3    Boles, R.G.4    Korf, B.R.5
  • 16
    • 0031039550 scopus 로고    scopus 로고
    • Deletion of the entire NF1 gene causing distinct manifestations in a family
    • Wu B. L., Schneider G. H., Korf B. R. Deletion of the entire NF1 gene causing distinct manifestations in a family. Am. J. Med. Genet. 69:1997;98-101.
    • (1997) Am. J. Med. Genet. , vol.69 , pp. 98-101
    • Wu, B.L.1    Schneider, G.H.2    Korf, B.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.