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Volumn 48, Issue 4, 2005, Pages 388-396

FISH screening for subtelomeric rearrangements in 219 patients with idiopathic mental retardation and normal karyotype

Author keywords

Chromosome; Fluorescence in situ hybridization (FISH); Mental retardation; Subtelomeric rearrangements

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 1P; CHROMOSOME 20P; CHROMOSOME 22Q; CHROMOSOME 7P; CHROMOSOME 9P; CHROMOSOME 9Q; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION 12; CHROMOSOME TRANSLOCATION 17; CHROMOSOME TRANSLOCATION 18; CHROMOSOME TRANSLOCATION 6; CHROMOSOME TRANSLOCATION 8; COHORT ANALYSIS; CONTROLLED STUDY; FACE DYSMORPHIA; FAMILY HISTORY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE REARRANGEMENT; HEALTH CARE NEED; HEALTH SERVICE; HEALTH SURVEY; HUMAN; HUMAN CELL; INFANT; INFORMATION PROCESSING; ITALY; KARYOTYPE; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; NEWBORN; PATHOGENESIS; PHENOTYPE; SAMPLE SIZE; STATISTICAL SIGNIFICANCE; TELOMERE;

EID: 29544447524     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2005.05.002     Document Type: Article
Times cited : (18)

References (23)
  • 1
    • 0004235298 scopus 로고
    • American Psychiatric Association, DMS-IV The American Psychiatric Association Washington DC
    • American Psychiatric Association, DMS-IV Diagnostic and Statistical Manual of Mental Disorders, fourth ed 1994 The American Psychiatric Association Washington DC
    • (1994) Diagnostic and Statistical Manual of Mental Disorders, Fourth Ed
  • 4
    • 0033357990 scopus 로고    scopus 로고
    • Chromosome breakage hotspots and delineation of the critical region for the 9p- deletion syndrome
    • L.A. Christ, C.A. Crowe, M.A. Micale, J.M. Conroy, and S. Schwartz Chromosome breakage hotspots and delineation of the critical region for the 9p- deletion syndrome Am. J. Hum. Genet. 65 1999 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.M.4    Schwartz, S.5
  • 9
    • 0038392953 scopus 로고    scopus 로고
    • The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation
    • J. Flint, and S. Knight The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation Curr. Opin. Genet. Dev. 13 3 2003 310 316
    • (2003) Curr. Opin. Genet. Dev. , vol.13 , Issue.3 , pp. 310-316
    • Flint, J.1    Knight, S.2
  • 11
    • 0034774605 scopus 로고    scopus 로고
    • Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype
    • G. Joly, J.M. Lapierre, and C. Ozilou Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype Clin. Genet. 60 3 2001 212 219
    • (2001) Clin. Genet. , vol.60 , Issue.3 , pp. 212-219
    • Joly, G.1    Lapierre, J.M.2    Ozilou, C.3
  • 17
    • 3342884299 scopus 로고    scopus 로고
    • Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature
    • A.M. Roberts, G.F. Cox, V. Kimonis, A. Lamb, and M. Irons Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature Am. J. Med. Genet. 128A 2004 352 363
    • (2004) Am. J. Med. Genet. , vol.128 , pp. 352-363
    • Roberts, A.M.1    Cox, G.F.2    Kimonis, V.3    Lamb, A.4    Irons, M.5
  • 18
    • 3442888530 scopus 로고    scopus 로고
    • Terminal 22q deletion syndrome: A newly recognized cause of speech and language disability in the autism spectrum
    • M.A. Manning, S.B. Cassidy, C. Clericuzio, A.M. Cherry, S. Schwartz, L. Hudgins, G.M. Enns, and H.E. Hoyme Terminal 22q deletion syndrome: A newly recognized cause of speech and language disability in the autism spectrum Pediatr. 114 2 2004 451 457
    • (2004) Pediatr. , vol.114 , Issue.2 , pp. 451-457
    • Manning, M.A.1    Cassidy, S.B.2    Clericuzio, C.3    Cherry, A.M.4    Schwartz, S.5    Hudgins, L.6    Enns, G.M.7    Hoyme, H.E.8
  • 21
    • 3342938159 scopus 로고    scopus 로고
    • Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosome 17p13.3 and 20q13.33
    • S. Walter, K. Sandig, G.K. Hinkel, B. Mitulla, K. Ounap, G. Sims, M. Sitska, B. Utermann, P. Viertel, V. Kalscheuer, and O. Bartsch Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosome 17p13.3 and 20q13.33 Am. J. Med. Genet. 128A 2004 364 373
    • (2004) Am. J. Med. Genet. , vol.128 , pp. 364-373
    • Walter, S.1    Sandig, K.2    Hinkel, G.K.3    Mitulla, B.4    Ounap, K.5    Sims, G.6    Sitska, M.7    Utermann, B.8    Viertel, P.9    Kalscheuer, V.10    Bartsch, O.11
  • 22
    • 0346096787 scopus 로고    scopus 로고
    • Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)
    • L. Rooms, E. Reyners, R. van Luijk, S. Scheers, J. Wauters, B. Ceulemans, J. van den Ende, Y. van Bever, and R.F. Kooy Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA) Hum. Mutat. 23 1 2004 17 21
    • (2004) Hum. Mutat. , vol.23 , Issue.1 , pp. 17-21
    • Rooms, L.1    Reyners, E.2    Van Luijk, R.3    Scheers, S.4    Wauters, J.5    Ceulemans, B.6    Van Den Ende, J.7    Van Bever, Y.8    Kooy, R.F.9
  • 23
    • 0034047098 scopus 로고    scopus 로고
    • Detection of submicroscopic subtelomeric chromosome translocations: A new case study
    • P. Warburton, S. Mohammed, and C.M. Ogilvie Detection of submicroscopic subtelomeric chromosome translocations: a new case study Am. J. Med. Genet. 91 1 2000 51 55
    • (2000) Am. J. Med. Genet. , vol.91 , Issue.1 , pp. 51-55
    • Warburton, P.1    Mohammed, S.2    Ogilvie, C.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.