메뉴 건너뛰기




Volumn 149, Issue 5, 2009, Pages 1076-1080

Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using Array-CGH

Author keywords

[No Author keywords available]

Indexed keywords

ANAMNESIS; CASE REPORT; CHILD; CHROMOSOME 9P; CHROMOSOME DELETION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE ASSOCIATION; GENOTYPE; HUMAN; LETTER; MALE; MONOSOMY; MONOSOMY 9; PRESCHOOL CHILD; PRIORITY JOURNAL; SKULL MALFORMATION; TRIGONOCEPHALY;

EID: 66849115634     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32783     Document Type: Letter
Times cited : (17)

References (16)
  • 1
    • 52649118148 scopus 로고    scopus 로고
    • Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia- plus syndrome: Paternal deletion of the epsilon-sarcoglycan (SGCE) gene
    • Bonnet C, Gregoire MJ, Vibert M, Raffo E, Leheup B, Jonveaux P. 2008. Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia- plus syndrome: Paternal deletion of the epsilon-sarcoglycan (SGCE) gene. J Hum Genet 53:876-885.
    • (2008) J Hum Genet , vol.53 , pp. 876-885
    • Bonnet, C.1    Gregoire, M.J.2    Vibert, M.3    Raffo, E.4    Leheup, B.5    Jonveaux, P.6
  • 2
    • 33746641694 scopus 로고    scopus 로고
    • Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1)
    • Chinen Y, Kaname T, Yanagi K, Saito N, Naritomi K, Ohta T. 2006. Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1). Am J Med Genet Part A 140A: 1655-1657.
    • (2006) Am J Med Genet , vol.140 A , Issue.PART A , pp. 1655-1657
    • Chinen, Y.1    Kaname, T.2    Yanagi, K.3    Saito, N.4    Naritomi, K.5    Ohta, T.6
  • 3
    • 0033357990 scopus 로고    scopus 로고
    • Chromosome breakage hotspots and delineation ofthe critical region for the 9p-deletion syndrome
    • Christ LA, Crowe CA, Micale MA, Conroy JM, Schwartz S. 1999. Chromosome breakage hotspots and delineation ofthe critical region for the 9p-deletion syndrome. Am J Hum Genet 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.M.4    Schwartz, S.5
  • 4
    • 34848866310 scopus 로고    scopus 로고
    • Further refinement of the candidate region for monosomy 9p syndrome
    • Faas BH, de Leeuw N, Mieloo H, Bruinenberg J, de Vries BB. 2007. Further refinement of the candidate region for monosomy 9p syndrome. Am J Med Genet Part A 143A:2353-2356.
    • (2007) Am J Med Genet , vol.143 A , Issue.PART A , pp. 2353-2356
    • Faas, B.H.1    de Leeuw, N.2    Mieloo, H.3    Bruinenberg, J.4    de Vries, B.B.5
  • 5
    • 55849152832 scopus 로고    scopus 로고
    • Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p
    • Hauge X, Raca G, Cooper S, May K, Spiro R, Adam M, Martin CL. 2008. Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p. Genet Med 10:599-611.
    • (2008) Genet Med , vol.10 , pp. 599-611
    • Hauge, X.1    Raca, G.2    Cooper, S.3    May, K.4    Spiro, R.5    Adam, M.6    Martin, C.L.7
  • 9
    • 48349142470 scopus 로고    scopus 로고
    • Schormair B, Kemlink D, Roeske D, Eckstein G, Xiong L, Lichtner P, Ripke S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Hogl B, Frauscher B, Gschliesser V, Poewe W, Peglau I, Vodicka P, Vavrova J, Sonka K, Nevsimalova S, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann HE, Holsboer F, Muller-Myhsok B, Meitinger T, Winkelmann J. 2008. PTPRD (protein tyrosine phos- phatase receptor type delta) is associated with restless legs syndrome. Nat Genet 40:946-948.
    • Schormair B, Kemlink D, Roeske D, Eckstein G, Xiong L, Lichtner P, Ripke S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Hogl B, Frauscher B, Gschliesser V, Poewe W, Peglau I, Vodicka P, Vavrova J, Sonka K, Nevsimalova S, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann HE, Holsboer F, Muller-Myhsok B, Meitinger T, Winkelmann J. 2008. PTPRD (protein tyrosine phos- phatase receptor type delta) is associated with restless legs syndrome. Nat Genet 40:946-948.
  • 10
    • 0030980904 scopus 로고    scopus 로고
    • Constitutional mosaicism for a chromosome 9 inversion resulting in recombinant aneusomy in an offspring
    • Shapira SK, Orr-Urtreger A, Gagos S, Shaffer LG. 1997. Constitutional mosaicism for a chromosome 9 inversion resulting in recombinant aneusomy in an offspring. Am J Med Genet 69:360-364.
    • (1997) Am J Med Genet , vol.69 , pp. 360-364
    • Shapira, S.K.1    Orr-Urtreger, A.2    Gagos, S.3    Shaffer, L.G.4
  • 11
    • 24944479167 scopus 로고    scopus 로고
    • Six cases of deletion 9p24 and trisomy 19q13.4 inherited from a familial balanced translocation
    • Su PH, Kuo PL, Chen SJ, Huang SC, Chen JY, Hung HM. 2005. Six cases of deletion 9p24 and trisomy 19q13.4 inherited from a familial balanced translocation. J Formos Med Assoc 104:525-530.
    • (2005) J Formos Med Assoc , vol.104 , pp. 525-530
    • Su, P.H.1    Kuo, P.L.2    Chen, S.J.3    Huang, S.C.4    Chen, J.Y.5    Hung, H.M.6
  • 13
    • 0028813216 scopus 로고
    • A familial ''balanced'' 3;9 translocation with cryptic 8q insertion leading to deletion and duplication of 9p23 loci in siblings
    • Wagstaff J, Hemann M. 1995. A familial ''balanced'' 3;9 translocation with cryptic 8q insertion leading to deletion and duplication of 9p23 loci in siblings. Am J Hum Genet 56:302-309.
    • (1995) Am J Hum Genet , vol.56 , pp. 302-309
    • Wagstaff, J.1    Hemann, M.2
  • 14
    • 0032728771 scopus 로고    scopus 로고
    • Receptor tyrosine phosphatase-delta is a homophilic, neurite-promoting cell adhesion molecular for CNS neurons
    • Wang J, Bixby JL. 1999. Receptor tyrosine phosphatase-delta is a homophilic, neurite-promoting cell adhesion molecular for CNS neurons. Mol Cell Neurosci 14:370-384.
    • (1999) Mol Cell Neurosci , vol.14 , pp. 370-384
    • Wang, J.1    Bixby, J.L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.