메뉴 건너뛰기




Volumn 17, Issue 1, 2008, Pages 31-34

De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment

Author keywords

Central precocious puberty; De novo balanced translocation; FOXP2; Position effect; Speech impairment

Indexed keywords

BUSERELIN ACETATE;

EID: 40349083853     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e3282f17688     Document Type: Article
Times cited : (12)

References (17)
  • 2
    • 19944432367 scopus 로고    scopus 로고
    • The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes
    • Gribble SM, Prigmore E, Burford DC, Porter KM, Ng BL, Douglas EJ, et al. (2005). The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet 42:8-16.
    • (2005) J Med Genet , vol.42 , pp. 8-16
    • Gribble, S.M.1    Prigmore, E.2    Burford, D.C.3    Porter, K.M.4    Ng, B.L.5    Douglas, E.J.6
  • 3
    • 3843133857 scopus 로고    scopus 로고
    • The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus
    • Kamimura J, Wakui K, Kadowaki H, Watanabe Y, Miyake K, Harada N, et al. (2004). The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus. J Hum Genet 49:360-365.
    • (2004) J Hum Genet , vol.49 , pp. 360-365
    • Kamimura, J.1    Wakui, K.2    Kadowaki, H.3    Watanabe, Y.4    Miyake, K.5    Harada, N.6
  • 6
    • 0036221483 scopus 로고    scopus 로고
    • A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet
    • Kondoh S, Sugawara H, Harada N, Matsumoto N, Ohashi H, Sato M, et al. (2002). A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet. J Hum Genet 47:136-139.
    • (2002) J Hum Genet , vol.47 , pp. 136-139
    • Kondoh, S.1    Sugawara, H.2    Harada, N.3    Matsumoto, N.4    Ohashi, H.5    Sato, M.6
  • 7
    • 0031714587 scopus 로고    scopus 로고
    • Molecular characterization and delineation of subtle deletions in de novo 'balanced' chromosomal rearrangements
    • Kumar A, Becker LA, Depinet TW, Haren JM, Kurtz CL, Robin NH, et al. (1998). Molecular characterization and delineation of subtle deletions in de novo 'balanced' chromosomal rearrangements. Hum Genet 103:173-178.
    • (1998) Hum Genet , vol.103 , pp. 173-178
    • Kumar, A.1    Becker, L.A.2    Depinet, T.W.3    Haren, J.M.4    Kurtz, C.L.5    Robin, N.H.6
  • 8
    • 4444361092 scopus 로고    scopus 로고
    • Multiple domains control the subcellular localization and activity of ETR-3, a regulator of nuclear and cytoplasmic RNA processing events
    • Ladd AN, Cooper TA (2004). Multiple domains control the subcellular localization and activity of ETR-3, a regulator of nuclear and cytoplasmic RNA processing events. J Cell Sci 117:3519-3529.
    • (2004) J Cell Sci , vol.117 , pp. 3519-3529
    • Ladd, A.N.1    Cooper, T.A.2
  • 9
    • 0035807360 scopus 로고    scopus 로고
    • A forkhead-domain gene is mutated in a severe speech and language disorder
    • Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP (2001). A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 413:519-523.
    • (2001) Nature , vol.413 , pp. 519-523
    • Lai, C.S.1    Fisher, S.E.2    Hurst, J.A.3    Vargha-Khadem, F.4    Monaco, A.P.5
  • 10
    • 0036019517 scopus 로고    scopus 로고
    • Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p
    • Lichtner P, Attie-Bitach T, Schuffenhauer S, Henwood J, Bouvagnet P, Scambler PJ, et al. (2002). Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p. J Mol Med 80:431-442.
    • (2002) J Mol Med , vol.80 , pp. 431-442
    • Lichtner, P.1    Attie-Bitach, T.2    Schuffenhauer, S.3    Henwood, J.4    Bouvagnet, P.5    Scambler, P.J.6
  • 11
    • 21044445447 scopus 로고    scopus 로고
    • Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits
    • MacDermot KD, Bonora E, Sykes N, Coupe AM, Lai CS, Vernes SC, et al. (2005). Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. Am J Hum Genet 76:1074-1180.
    • (2005) Am J Hum Genet , vol.76 , pp. 1074-1180
    • MacDermot, K.D.1    Bonora, E.2    Sykes, N.3    Coupe, A.M.4    Lai, C.S.5    Vernes, S.C.6
  • 12
    • 0002202785 scopus 로고
    • Japanese specific bone age standard on the TW2
    • Murata M (1993). Japanese specific bone age standard on the TW2. Clin Pediatr Endocrinol 2(Suppl 3):35-41.
    • (1993) Clin Pediatr Endocrinol , vol.2 , Issue.SUPPL. 3 , pp. 35-41
    • Murata, M.1
  • 13
    • 15944393539 scopus 로고    scopus 로고
    • Results of long-term follow-up after treatment of central precocious puberty with leuprorelin acetate: Evaluation of effectiveness of treatment and recovery of gonadal function. The TAP-144-SR Japanese Study Group on Central Precocious Puberty
    • Tanaka T, Niimi H, Matsuo N, Fujieda K, Tachibana K, Ohyama K, et al. (2005). Results of long-term follow-up after treatment of central precocious puberty with leuprorelin acetate: evaluation of effectiveness of treatment and recovery of gonadal function. The TAP-144-SR Japanese Study Group on Central Precocious Puberty. J Clin Endocrinol Metab 90:1371-1376.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 1371-1376
    • Tanaka, T.1    Niimi, H.2    Matsuo, N.3    Fujieda, K.4    Tachibana, K.5    Ohyama, K.6
  • 14
    • 0004137087 scopus 로고
    • Oxford: Blackwell Scientific Publications
    • Tanner JM (1962). Growth at adolescence. Oxford: Blackwell Scientific Publications.
    • (1962) Growth at adolescence
    • Tanner, J.M.1
  • 15
    • 0039765157 scopus 로고    scopus 로고
    • Molecular cloning of a novel human I-mfa domain-containing protein that differently regulates human T-cell leukemia virus type I and HIV-1 expression
    • Thebault S, Gachon F, Lemasson I, Devaux C, Mesnard JM (2000). Molecular cloning of a novel human I-mfa domain-containing protein that differently regulates human T-cell leukemia virus type I and HIV-1 expression. J Biol Chem 275:4848-4857.
    • (2000) J Biol Chem , vol.275 , pp. 4848-4857
    • Thebault, S.1    Gachon, F.2    Lemasson, I.3    Devaux, C.4    Mesnard, J.M.5
  • 16
    • 0025941775 scopus 로고
    • De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints
    • Warburton D (1991). De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 49:995-1013.
    • (1991) Am J Hum Genet , vol.49 , pp. 995-1013
    • Warburton, D.1
  • 17
    • 0042692788 scopus 로고    scopus 로고
    • The human I-mfa domain-containing protein, HIC, interacts with cyclin T1 and modulates P-TEFb-dependent transcription
    • Young TM, Wang Q, Pe'ery T, Mathews MB (2003). The human I-mfa domain-containing protein, HIC, interacts with cyclin T1 and modulates P-TEFb-dependent transcription. Mol Cell Biol 23:6373-6384.
    • (2003) Mol Cell Biol , vol.23 , pp. 6373-6384
    • Young, T.M.1    Wang, Q.2    Pe'ery, T.3    Mathews, M.B.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.