메뉴 건너뛰기




Volumn 146, Issue 10, 2008, Pages 1330-1334

Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome

Author keywords

(expressive) language delay; 18q12.3; Array CGH; Behavioral problems; Critical region; Hypotonia; Interstitial deletion; Short stature

Indexed keywords

ARTICLE; BEHAVIOR DISORDER; CASE REPORT; CHROMOSOME 18; CHROMOSOME 18Q; CHROMOSOME DELETION; CYTOGENETICS; HUMAN; LANGUAGE DISABILITY; MALE; MUSCLE HYPOTONIA; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SYNDROME DELINEATION;

EID: 43049138391     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32267     Document Type: Article
Times cited : (26)

References (31)
  • 2
    • 0026710963 scopus 로고
    • Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: Report on a new affected child and follow-up on the original reported familial cases
    • Chudley AE, Kovnats S, Ray M. 1992. Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: Report on a new affected child and follow-up on the original reported familial cases. Am J Med Genet 43:535-538.
    • (1992) Am J Med Genet , vol.43 , pp. 535-538
    • Chudley, A.E.1    Kovnats, S.2    Ray, M.3
  • 5
    • 33751516684 scopus 로고    scopus 로고
    • Cytogenetic genotype-phenotype studies: Improving genotyping, phenotyping and data storage
    • Feenstra I, Brunner HG, van Ravenswaaij CM. 2006. Cytogenetic genotype-phenotype studies: Improving genotyping, phenotyping and data storage. Cytogenet Genome Res 115:231-239.
    • (2006) Cytogenet Genome Res , vol.115 , pp. 231-239
    • Feenstra, I.1    Brunner, H.G.2    van Ravenswaaij, C.M.3
  • 7
    • 33748644928 scopus 로고    scopus 로고
    • Friedman JM, Baross A, Delaney AD, Ally A, Arbour L, Armstrong L, Asano J, Bailey DK, Barber S, Birch P, Brown-John M, Cao M, Chan S, Charest DL, Farnoud N, Fernandes N, Flibotte S, Go A, Gibson WT, Holt RA, Jones SJ, Kennedy GC, Krzywinski M, Langlois S, Li HI, McGillivray BC, Nayar T, Pugh TJ, Rajcan-Separovic E, Schein JE, Schnerch A, Siddiqui A, Van Allen MI, Wilson G, Yong SL, Zahir F, Eydoux P, Marra MA. 2006. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet 79:500-513.
    • Friedman JM, Baross A, Delaney AD, Ally A, Arbour L, Armstrong L, Asano J, Bailey DK, Barber S, Birch P, Brown-John M, Cao M, Chan S, Charest DL, Farnoud N, Fernandes N, Flibotte S, Go A, Gibson WT, Holt RA, Jones SJ, Kennedy GC, Krzywinski M, Langlois S, Li HI, McGillivray BC, Nayar T, Pugh TJ, Rajcan-Separovic E, Schein JE, Schnerch A, Siddiqui A, Van Allen MI, Wilson G, Yong SL, Zahir F, Eydoux P, Marra MA. 2006. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet 79:500-513.
  • 8
    • 20744456280 scopus 로고    scopus 로고
    • Small GTPase proteins Rin and Rit Bind to PAR6 GTP-dependently and regulate cell transfonnation
    • Hoshino M, Yoshimori T, Nakamura S. 2005. Small GTPase proteins Rin and Rit Bind to PAR6 GTP-dependently and regulate cell transfonnation. J Biol Chem 280:22868-22874.
    • (2005) J Biol Chem , vol.280 , pp. 22868-22874
    • Hoshino, M.1    Yoshimori, T.2    Nakamura, S.3
  • 11
    • 0031663782 scopus 로고    scopus 로고
    • Position effect in human genetic disease
    • Kleinjan DJ, van Heyningen V. 1998. Position effect in human genetic disease. Hum Mol Genet 7:1611-1618.
    • (1998) Hum Mol Genet , vol.7 , pp. 1611-1618
    • Kleinjan, D.J.1    van Heyningen, V.2
  • 13
    • 19944365236 scopus 로고    scopus 로고
    • Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl
    • Kotzot D, Habedandt E, Fauth C, Baumgartner S, Scholl-Burgi S, Utermann G. 2005. Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl. Am J Med Genet Part A 135A:304-307.
    • (2005) Am J Med Genet , vol.135 A , Issue.PART A , pp. 304-307
    • Kotzot, D.1    Habedandt, E.2    Fauth, C.3    Baumgartner, S.4    Scholl-Burgi, S.5    Utermann, G.6
  • 14
    • 0026742086 scopus 로고
    • Monosomy 18q12.1-21.1: A recognizable aneuploidy syndrome? Report of a patient and review of the literature
    • Krasikov N, Thompson K, Sekhon GS. 1992. Monosomy 18q12.1-21.1: A recognizable aneuploidy syndrome? Report of a patient and review of the literature. Am J Med Genet 43:531-534.
    • (1992) Am J Med Genet , vol.43 , pp. 531-534
    • Krasikov, N.1    Thompson, K.2    Sekhon, G.S.3
  • 15
    • 0029861489 scopus 로고    scopus 로고
    • Rin, a neuron-epecific and calmodulin-binding small G-protein, and Rit define a novel subfamily of ras proteins
    • Lee CH, Delia NG, Chew CE, Zack DJ. 1996. Rin, a neuron-epecific and calmodulin-binding small G-protein, and Rit define a novel subfamily of ras proteins. J Neurosci 16:6784-6794.
    • (1996) J Neurosci , vol.16 , pp. 6784-6794
    • Lee, C.H.1    Delia, N.G.2    Chew, C.E.3    Zack, D.J.4
  • 20
    • 0025827836 scopus 로고
    • Interstitial deletion of the long arm of chromosome 18, del(18) (q12.2q21.1): A report of three cases of an autosomal deletion with a mild phenotype
    • Schinzel A, Binkert F, Lillington DM, Sands M, Stocks RJ, Lindenbaum RH, Matthews H, Sheridan H. 1991. Interstitial deletion of the long arm of chromosome 18, del(18) (q12.2q21.1): A report of three cases of an autosomal deletion with a mild phenotype. J Med Genet 28:352-355.
    • (1991) J Med Genet , vol.28 , pp. 352-355
    • Schinzel, A.1    Binkert, F.2    Lillington, D.M.3    Sands, M.4    Stocks, R.J.5    Lindenbaum, R.H.6    Matthews, H.7    Sheridan, H.8
  • 21
    • 24944478689 scopus 로고    scopus 로고
    • Detection of chromosomal imbalances in children widi idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH)
    • Schoumans J, Ruivenkamp C, Holmberg E, Kyllerman M, Anderlid BM, Nordenskjold M. 2005. Detection of chromosomal imbalances in children widi idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J Med Genet 42:699-705.
    • (2005) J Med Genet , vol.42 , pp. 699-705
    • Schoumans, J.1    Ruivenkamp, C.2    Holmberg, E.3    Kyllerman, M.4    Anderlid, B.M.5    Nordenskjold, M.6
  • 22
    • 11144356173 scopus 로고    scopus 로고
    • Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
    • Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP. 2004. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 41:241-248.
    • (2004) J Med Genet , vol.41 , pp. 241-248
    • Shaw-Smith, C.1    Redon, R.2    Rickman, L.3    Rio, M.4    Willatt, L.5    Fiegler, H.6    Firth, H.7    Sanlaville, D.8    Winter, R.9    Colleaux, L.10    Bobrow, M.11    Carter, N.P.12
  • 24
    • 0026344146 scopus 로고
    • Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1)]
    • Surh LC, Ledbetter DH, Greenberg F. 1991. Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1)]. Am J Med Genet 41:15-17.
    • (1991) Am J Med Genet , vol.41 , pp. 15-17
    • Surh, L.C.1    Ledbetter, D.H.2    Greenberg, F.3
  • 25
    • 32544439495 scopus 로고    scopus 로고
    • Synaptotagmin IV does not alter excitatory fast synaptic transmission or fusion pore kinetics in mammalian CNS neurons
    • Ting JT, Kelley BG, Sullivan JM. 2006. Synaptotagmin IV does not alter excitatory fast synaptic transmission or fusion pore kinetics in mammalian CNS neurons. J Neurosci 26:372-380.
    • (2006) J Neurosci , vol.26 , pp. 372-380
    • Ting, J.T.1    Kelley, B.G.2    Sullivan, J.M.3
  • 30
    • 0024489885 scopus 로고
    • Obesity and abnormal behaviour associated with Interstitial deletion of chromosome 18 (q12.2q21.1)
    • Wilson GN, Al Saadi AA. 1989. Obesity and abnormal behaviour associated with Interstitial deletion of chromosome 18 (q12.2q21.1). J Med Genet 26:62-63.
    • (1989) J Med Genet , vol.26 , pp. 62-63
    • Wilson, G.N.1    Al Saadi, A.A.2
  • 31
    • 0018630218 scopus 로고
    • Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]
    • Wilson MG, Towner JW, Foreman I, Siris E. 1979. Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]. Am J Med Genet 3:155-174.
    • (1979) Am J Med Genet , vol.3 , pp. 155-174
    • Wilson, M.G.1    Towner, J.W.2    Foreman, I.3    Siris, E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.