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Volumn 1, Issue 2, 2010, Pages 75-81

Interstitial deletions at 6q14.1-q15 associated with obesity, developmental delay and a distinct clinical phenotype

Author keywords

6q Deletion; Learning disability; Mental retardation; Obesity

Indexed keywords

ANTIBIOTIC AGENT;

EID: 79952120967     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000314025     Document Type: Article
Times cited : (28)

References (30)
  • 1
    • 76349083132 scopus 로고    scopus 로고
    • Large, rare chromosomal deletions associated with severe early-onset obesity
    • Bochukova EG, Huang N, Keogh J, Henning E, Purmann C, et al: Large, rare chromosomal deletions associated with severe early-onset obesity. Nature 463: 666-670 (2010).
    • (2010) Nature , vol.463 , pp. 666-670
    • Bochukova, E.G.1    Huang, N.2    Keogh, J.3    Henning, E.4    Purmann, C.5
  • 2
    • 56749159050 scopus 로고    scopus 로고
    • Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: Narrowing the critical region for Prader-Willi-like phenotype
    • Bonaglia MC, Ciccone R, Gimelli G, Gimelli S, Marelli S, et al: Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. Eur J Hum Genet 16: 1443-1449 (2008).
    • (2008) Eur J Hum Genet , vol.16 , pp. 1443-1449
    • Bonaglia, M.C.1    Ciccone, R.2    Gimelli, G.3    Gimelli, S.4    Marelli, S.5
  • 3
    • 0034925697 scopus 로고    scopus 로고
    • Sorting nexin-14, a gene expressed in motoneurons trapped by an in vitro preselection method
    • Carroll P, Renoncourt Y, Gayet O, De Bovis B, Alonso S: Sorting nexin-14, a gene expressed in motoneurons trapped by an in vitro preselection method. Dev Dyn 221: 431-442 (2001).
    • (2001) Dev Dyn , vol.221 , pp. 431-442
    • Carroll, P.1    Renoncourt, Y.2    Gayet, O.3    De Bovis, B.4    Alonso, S.5
  • 4
    • 0031046839 scopus 로고    scopus 로고
    • A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3
    • Chong SS, Pack SD, Roschke AV, Tanigami A, Carrozzo R, et al: A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet 6: 147-155 (1997).
    • (1997) Hum Mol Genet , vol.6 , pp. 147-155
    • Chong, S.S.1    Pack, S.D.2    Roschke, A.V.3    Tanigami, A.4    Carrozzo, R.5
  • 5
    • 18444412266 scopus 로고    scopus 로고
    • Deletion of the sim1 gene (6q16.2) in a patient with a Prader- Willi-like phenotype
    • Faivre L, Cormier-Daire V, Lapierre JM, Colleaux L, Jacquemont S, et al: Deletion of the sim1 gene (6q16.2) in a patient with a Prader- Willi-like phenotype. J Med Genet 39: 594-596 (2002).
    • (2002) J Med Genet , vol.39 , pp. 594-596
    • Faivre, L.1    Cormier-Daire, V.2    Lapierre, J.M.3    Colleaux, L.4    Jacquemont, S.5
  • 6
    • 0033951792 scopus 로고    scopus 로고
    • Interstitial 6q deletion with a Prader-Willi-like phenotype: A new case and review of the literature
    • Gilhuis HJ, van Ravenswaaij CM, Hamel BJ, Gabreels FJ: Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature. Eur J Paediatr Neurol 4: 39-43 (2000).
    • (2000) Eur J Paediatr Neurol , vol.4 , pp. 39-43
    • Gilhuis, H.J.1    Van Ravenswaaij, C.M.2    Hamel, B.J.3    Gabreels, F.J.4
  • 10
    • 0042622386 scopus 로고    scopus 로고
    • Beta-1,3-Glucuronyltransferase- 1 gene implicated as a candidate for a schizophrenia-like psychosis through molecular analysis of a balanced translocation
    • Jeffries AR, Mungall AJ, Dawson E, Halls K, Langford CF, et al: Beta-1,3-Glucuronyltransferase- 1 gene implicated as a candidate for a schizophrenia-like psychosis through molecular analysis of a balanced translocation. Mol Psychiatry 8: 654-663 (2003).
    • (2003) Mol Psychiatry , vol.8 , pp. 654-663
    • Jeffries, A.R.1    Mungall, A.J.2    Dawson, E.3    Halls, K.4    Langford, C.F.5
  • 11
    • 33847255395 scopus 로고    scopus 로고
    • Interstitial deletions of chromosome 6q: Genotype-phenotype correlation utilizing array CGH
    • Klein OD, Cotter PD, Moore MW, Zanko A, Gilats M, et al: Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH. Clin Genet 71: 260-266 (2007).
    • (2007) Clin Genet , vol.71 , pp. 260-266
    • Klein, O.D.1    Cotter, P.D.2    Moore, M.W.3    Zanko, A.4    Gilats, M.5
  • 12
    • 57349087863 scopus 로고    scopus 로고
    • Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations
    • Lasky-Su J, Neale BM, Franke B, Anney RJ, Zhou K, et al: Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. Am J Med Genet B Neuropsychiatr Genet 147B:1345-1354 (2008).
    • (2008) Am J Med Genet B Neuropsychiatr Genet , vol.147 B , pp. 1345-1354
    • Lasky-Su, J.1    Neale, B.M.2    Franke, B.3    Anney, R.J.4    Zhou, K.5
  • 14
    • 33749043929 scopus 로고    scopus 로고
    • Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders
    • Lee JA, Lupski JR: Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron 52: 103-121 (2006).
    • (2006) Neuron , vol.52 , pp. 103-121
    • Lee, J.A.1    Lupski, J.R.2
  • 15
    • 0032532480 scopus 로고    scopus 로고
    • Development of neuroendocrine lineages requires the bHLH-PAS transcription factor SIM1
    • Michaud JL, Rosenquist T, May NR, Fan CM: Development of neuroendocrine lineages requires the bHLH-PAS transcription factor SIM1 . Genes Dev 12: 3264-3275 (1998).
    • (1998) Genes Dev , vol.12 , pp. 3264-3275
    • Michaud, J.L.1    Rosenquist, T.2    May, N.R.3    Fan, C.M.4
  • 16
    • 55649088036 scopus 로고    scopus 로고
    • The influence of serotonin- And other genes on impulsive behavioral aggression and cognitive impulsivity in children with attention-deficit/ hyperactivity disorder (ADHD): Findings from a family-based association test (FBAT) analysis
    • Oades RD, Lasky-Su J, Christiansen H, Faraone SV, Sonuga-Barke EJ, et al: The influence of serotonin- and other genes on impulsive behavioral aggression and cognitive impulsivity in children with attention-deficit/hyperactivity disorder (ADHD): findings from a family-based association test (FBAT) analysis. Behav Brain Funct 4: 48 (2008).
    • (2008) Behav Brain Funct , vol.4 , pp. 48
    • Oades, R.D.1    Lasky-Su, J.2    Christiansen, H.3    Faraone, S.V.4    Sonuga-Barke, E.J.5
  • 17
    • 45749090450 scopus 로고    scopus 로고
    • Deficiency in cytosolic malic enzyme does not increase acetaminophen-induced hepato-toxicity
    • Qian S, Mumick S, Nizner P, Tota MR, Menetski J, et al: Deficiency in cytosolic malic enzyme does not increase acetaminophen-induced hepato-toxicity. Basic Clin Pharmacol Toxicol 103: 36-42 (2008).
    • (2008) Basic Clin Pharmacol Toxicol , vol.103 , pp. 36-42
    • Qian, S.1    Mumick, S.2    Nizner, P.3    Tota, M.R.4    Menetski, J.5
  • 19
    • 4444284632 scopus 로고    scopus 로고
    • Multiplex ligation-dependent probe amplification using a completely synthetic probe set
    • Stern RF, Roberts RG, Mann K, Yau SC, Berg J, Ogilvie CM: Multiplex ligation-dependent probe amplification using a completely synthetic probe set. Biotechniques 37: 399-405 (2004).
    • (2004) Biotechniques , vol.37 , pp. 399-405
    • Stern, R.F.1    Roberts, R.G.2    Mann, K.3    Yau, S.C.4    Berg, J.5    Ogilvie, C.M.6
  • 20
    • 34848924600 scopus 로고    scopus 로고
    • Whole-genome array- CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation
    • Thuresson AC, Bondeson ML, Edeby C, Ellis P, Langford C, et al: Whole-genome array- CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation. Cytogenet Genome Res 118: 1-7 (2007).
    • (2007) Cytogenet Genome Res , vol.118 , pp. 1-7
    • Thuresson, A.C.1    Bondeson, M.L.2    Edeby, C.3    Ellis, P.4    Langford, C.5
  • 22
    • 67649793700 scopus 로고    scopus 로고
    • The genetic contribution to non-syndromic human obesity
    • Walley AJ, Asher JE, Froguel P: The genetic contribution to non-syndromic human obesity. Nat Rev Genet 10: 431-442 (2009).
    • (2009) Nat Rev Genet , vol.10 , pp. 431-442
    • Walley, A.J.1    Asher, J.E.2    Froguel, P.3
  • 23
    • 76249116215 scopus 로고    scopus 로고
    • A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
    • Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, et al: A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature 463: 671-675 (2010).
    • (2010) Nature , vol.463 , pp. 671-675
    • Walters, R.G.1    Jacquemont, S.2    Valsesia, A.3    De Smith, A.J.4    Martinet, D.5
  • 24
    • 33745612078 scopus 로고    scopus 로고
    • A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity
    • Varela MC, Simoes-Sato AY, Kim CA, Bertola DR, De Castro CI, Koiffmann CP: A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity. Eur J Med Genet 49: 298-305 (2006).
    • (2006) Eur J Med Genet , vol.49 , pp. 298-305
    • Varela, M.C.1    Simoes-Sato, A.Y.2    Kim, C.A.3    Bertola, D.R.4    De Castro, C.I.5    Koiffmann, C.P.6
  • 26
    • 33644921767 scopus 로고    scopus 로고
    • Malic enzyme 1 genotype is associated with backfat thickness and meat quality traits in pigs
    • Vidal O, Varona L, Oliver MA, Noguera JL, Sanchez A, Amills M: Malic enzyme 1 genotype is associated with backfat thickness and meat quality traits in pigs. Anim Genet 37: 28-32 (2006).
    • (2006) Anim Genet , vol.37 , pp. 28-32
    • Vidal, O.1    Varona, L.2    Oliver, M.A.3    Noguera, J.L.4    Sanchez, A.5    Amills, M.6
  • 28
    • 0036904274 scopus 로고    scopus 로고
    • Sorting out the cellular functions of sorting nexins
    • Worby CA, Dixon JE: Sorting out the cellular functions of sorting nexins. Nat Rev Mol Cell Biol 3: 919-931 (2002).
    • (2002) Nat Rev Mol Cell Biol , vol.3 , pp. 919-931
    • Worby, C.A.1    Dixon, J.E.2
  • 29
    • 3242657911 scopus 로고    scopus 로고
    • Absence of a reductase, NCB5OR, causes insulin-deficient diabetes
    • Xie J, Zhu H, Larade K, Ladoux A, Seguritan A, et al: Absence of a reductase, NCB5OR, causes insulin-deficient diabetes. Proc Natl Acad Sci USA 101: 10750-10755 (2004).
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 10750-10755
    • Xie, J.1    Zhu, H.2    Larade, K.3    Ladoux, A.4    Seguritan, A.5
  • 30
    • 63449132586 scopus 로고    scopus 로고
    • Validation of candidate causal genes for obesity that affect shared metabolic pathways and networks
    • Yang X, Deignan JL, Qi H, Zhu J, Qian S, et al: Validation of candidate causal genes for obesity that affect shared metabolic pathways and networks. Nat Genet 41: 415-423 (2009).
    • (2009) Nat Genet , vol.41 , pp. 415-423
    • Yang, X.1    Deignan, J.L.2    Qi, H.3    Zhu, J.4    Qian, S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.