메뉴 건너뛰기




Volumn 63, Issue 5, 2003, Pages 410-414

Five new subjects with ring chromosome 22

Author keywords

Chromosomes 22; Mood disorders; Review; Ring chromosome

Indexed keywords

ALLELE; CENTRAL NERVOUS SYSTEM DISEASE; CENTRAL NERVOUS SYSTEM MALFORMATION; CHILD; CHROMOSOME 22; CHROMOSOME LOSS; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EAR DISEASE; EYEBROW; GENE DELETION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; MALE; MEDICAL LITERATURE; MENTAL DEFICIENCY; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; OUTCOMES RESEARCH; PHENOTYPE; PHYSICAL DISEASE; PRIORITY JOURNAL; RECESSIVE GENE; REVIEW; RING CHROMOSOME; SEQUENCE ANALYSIS; SPEECH DISORDER; TELOMERE;

EID: 0042632741     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00064.x     Document Type: Review
Times cited : (22)

References (25)
  • 5
    • 0017642747 scopus 로고
    • Phenotypic correlations in patients with ring chromosome 22
    • Hunter AGW, Ray M, Wang HS, Thompson DR. Phenotypic correlations in patients with ring chromosome 22. Clin Genet 1977: 12: 239-249.
    • (1977) Clin. Genet. , vol.12 , pp. 239-249
    • Hunter, A.G.W.1    Ray, M.2    Wang, H.S.3    Thompson, D.R.4
  • 6
    • 0018729452 scopus 로고
    • Phenotypic variation in two patients with a ring chromosome 22
    • Funderburk SJ, Sparkes RS, Klisak I. Phenotypic variation in two patients with a ring chromosome 22. Clin Genet 1979: 16: 305-310.
    • (1979) Clin. Genet. , vol.16 , pp. 305-310
    • Funderburk, S.J.1    Sparkes, R.S.2    Klisak, I.3
  • 9
    • 0035826540 scopus 로고    scopus 로고
    • Velo-cardio-facial syndrome: Implications of microdeletion of 22q11 for schizophrenia and mood disorders
    • Arnold PD, Siegel-Bartelt J, Cytrynbaum C, Teshima I, Schachar R. Velo-cardio-facial syndrome: Implications of microdeletion of 22q11 for schizophrenia and mood disorders. Am J Med Genet 2001: 105: 354-362.
    • (2001) Am. J. Med. Genet. , vol.105 , pp. 354-362
    • Arnold, P.D.1    Siegel-Bartelt, J.2    Cytrynbaum, C.3    Teshima, I.4    Schachar, R.5
  • 10
    • 0007482654 scopus 로고    scopus 로고
    • 2 interstitial deletions among childhood onset schizophrenia and 'multidimensionally impaired.'
    • Yan W, Jacobsen Krasnewich LK, Guan DM et al. 2 interstitial deletions among childhood onset schizophrenia and 'multidimensionally impaired.' Am J Med Genet 1998: 81: 41-43.
    • (1998) Am. J. Med. Genet. , vol.81 , pp. 41-43
    • Yan, W.1    Jacobsen Krasnewich, L.K.2    Guan, D.M.3
  • 11
    • 0023153582 scopus 로고
    • Does 'ring syndrome' exist? Analysis of 207 case reports on patients with a ring autosome
    • Kosztolanyi G. Does 'ring syndrome' exist? Analysis of 207 case reports on patients with a ring autosome. Hum Genet 1987: 75: 174-179.
    • (1987) Hum. Genet. , vol.75 , pp. 174-179
    • Kosztolanyi, G.1
  • 12
    • 0030003708 scopus 로고    scopus 로고
    • Distinct 15q genotypes in Russell-Silver and ring 15 syndromes
    • Rogan PK, Seip JR, Driscoll DJ et al. Distinct 15q genotypes in Russell-Silver and ring 15 syndromes. Am J Med Genet 1996: 62: 10-15.
    • (1996) Am. J. Med. Genet. , vol.62 , pp. 10-15
    • Rogan, P.K.1    Seip, J.R.2    Driscoll, D.J.3
  • 14
    • 0023942709 scopus 로고
    • Determination of the break-points and the parental origin of a ring 22 chromosome: An analysis by high-resolution banding technique, quinacrine and silver stainings
    • Naritomi K, Hirayama K. Determination of the break-points and the parental origin of a ring 22 chromosome: an analysis by high-resolution banding technique, quinacrine and silver stainings. Jpn J Human Genet 1988: 33: 67-73.
    • (1988) Jpn. J. Human Genet. , vol.33 , pp. 67-73
    • Naritomi, K.1    Hirayama, K.2
  • 15
    • 0024076838 scopus 로고    scopus 로고
    • Ring chromosome 22, 46, XX, r (22)(p 11.2→q13.3) presenting with leukemoid reaction
    • Watanabe H, Yamanaka T. Ring chromosome 22, 46, XX, r (22)(p 11.2→q13.3) presenting with leukemoid reaction. Clin Genetics 1998: 34: 206-208.
    • (1998) Clin. Genetics , vol.34 , pp. 206-208
    • Watanabe, H.1    Yamanaka, T.2
  • 16
    • 0025185539 scopus 로고
    • Ring chromosome 22 karyotype in a patient with Opitz (BBBG) syndrome
    • Christodoulon J, Loughnan P. Ring chromosome 22 karyotype in a patient with Opitz (BBBG) syndrome. Am J Med Genet 1990: 37: 422-424.
    • (1990) Am. J. Med. Genet. , vol.37 , pp. 422-424
    • Christodoulon, J.1    Loughnan, P.2
  • 19
    • 0029126647 scopus 로고
    • Metachromatic leukodystrophy (MLD) in a patient with a constitutional ring chromosome 22
    • Coulter-Mackie MB, Rip J, Ludman MD, Beis J, Cole DE. Metachromatic leukodystrophy (MLD) in a patient with a constitutional ring chromosome 22. J Med Genet 1995: 32: 787-791.
    • (1995) J. Med. Genet. , vol.32 , pp. 787-791
    • Coulter-Mackie, M.B.1    Rip, J.2    Ludman, M.D.3    Beis, J.4    Cole, D.E.5
  • 20
    • 0030469498 scopus 로고    scopus 로고
    • Williams-Beuren syndrome: Phenotypic variability and deletions of chromosomes 7, 11 and 22 in a series of 52 patients
    • Joyce CA, Zorich B, Pike SJ, Barber JK, Dennis NR. Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11 and 22 in a series of 52 patients. J Med Genet 1996: 33: 986-992.
    • (1996) J. Med. Genet. , vol.33 , pp. 986-992
    • Joyce, C.A.1    Zorich, B.2    Pike, S.J.3    Barber, J.K.4    Dennis, N.R.5
  • 21
    • 0030759460 scopus 로고    scopus 로고
    • Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2
    • Kehrer-Sawatzki H, Udart M, Krone W et al. Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2. Hum Genet 1997: 100: 67-74.
    • (1997) Hum. Genet. , vol.100 , pp. 67-74
    • Kehrer-Sawatzki, H.1    Udart, M.2    Krone, W.3
  • 22
    • 0030790702 scopus 로고    scopus 로고
    • Four year old girl with ring chromosome 22 and brain tumor
    • Rubio A. Four year old girl with ring chromosome 22 and brain tumor. Brain Path 1997: 7: 1027-1028.
    • (1997) Brain Path. , vol.7 , pp. 1027-1028
    • Rubio, A.1
  • 23
    • 7144253119 scopus 로고    scopus 로고
    • Brief Report: A case of chromosome 22 alteration associated with autistic syndrome
    • Assumpcao FB. Brief Report: a case of chromosome 22 alteration associated with autistic syndrome. J Autism Dev Dis 1998: 28: 253-256.
    • (1998) J. Autism Dev. Dis. , vol.28 , pp. 253-256
    • Assumpcao, F.B.1
  • 24
    • 0033110077 scopus 로고    scopus 로고
    • Ring chromosome 22 resulting in partial monosomy in a mentally retarded boy
    • Gibbons B, Tan Sy, Tam Py. Ring chromosome 22 resulting in partial monosomy in a mentally retarded boy. Singapore Med J 1999: 40: 273-275.
    • (1999) Singapore Med. J. , vol.40 , pp. 273-275
    • Gibbons, B.1    Tan, S.2    Tam, P.3
  • 25
    • 0036549551 scopus 로고    scopus 로고
    • Molecular characterization of a ring chromosome 22 in a patient with severe language delay: A contribution to the refinement of the subtelomeric 22q deletion syndrome
    • De Mas PD, Chassaing N, Chaix Y et al. Molecular characterization of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome. J Med Genet 2002: 39: e17.
    • (2002) J. Med. Genet. , vol.39 , pp. e17
    • De Mas, P.D.1    Chassaing, N.2    Chaix, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.