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Volumn 14, Issue 11, 2008, Pages

X-linked mental retardation

Author keywords

Nonsyndromic X linked mental retardation; Syndromic X linked mental retardation; X linked mental retardation

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE;

EID: 55549145060     PISSN: 12341010     EISSN: 16433750     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (18)

References (75)
  • 3
    • 0036948248 scopus 로고    scopus 로고
    • The epidemiology of mental retardation: Challenges and opportunities in the new millennium. Ment Retard Dev Disab
    • Leonard H, Wen X: The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment Retard Dev Disab Res Rev, 2002; 8: 117-34
    • (2002) Res Rev , vol.8 , pp. 117-134
    • Leonard, H.1    Wen, X.2
  • 5
    • 0015968749 scopus 로고
    • X-linked mental retardation and verbal disability
    • Lehrke RG: X-linked mental retardation and verbal disability. Birth Defects, 1974; 10: 1-100
    • (1974) Birth Defects , vol.10 , pp. 1-100
    • Lehrke, R.G.1
  • 6
    • 0034760778 scopus 로고    scopus 로고
    • Clinical etiological survey of a population of 471 mentally retarded patients living in an institution in the Southern part of Netherlands
    • van Buggenhout GJ, Trommelen JCM, Brunner HG et al: Clinical etiological survey of a population of 471 mentally retarded patients living in an institution in the Southern part of Netherlands. Community Genet, 2001; 4: 109-22
    • (2001) Community Genet , vol.4 , pp. 109-122
    • van Buggenhout, G.J.1    Trommelen, J.C.M.2    Brunner, H.G.3
  • 7
    • 0029886516 scopus 로고    scopus 로고
    • Finding genes on the X chromosome by which homo may have become sapiens
    • Turner G: Finding genes on the X chromosome by which homo may have become sapiens. Am J Hum Genet, 1996; 58: 1109-10
    • (1996) Am J Hum Genet , vol.58 , pp. 1109-1110
    • Turner, G.1
  • 8
    • 0035464960 scopus 로고    scopus 로고
    • Monogenic causes of X-linked mental retardation
    • Chelly J, Mandel JL: Monogenic causes of X-linked mental retardation. Nat Rev Genet, 2001; 2: 669-80
    • (2001) Nat Rev Genet , vol.2 , pp. 669-680
    • Chelly, J.1    Mandel, J.L.2
  • 9
    • 0019193212 scopus 로고
    • Nonspecific X-linked mental retardation II: The frequency in British Columbia
    • Herbst DS, Miller JR: Nonspecific X-linked mental retardation II: the frequency in British Columbia. Am J Med Genet, 1980; 7: 461-69
    • (1980) Am J Med Genet , vol.7 , pp. 461-469
    • Herbst, D.S.1    Miller, J.R.2
  • 10
    • 17444421587 scopus 로고    scopus 로고
    • X-linked genes and mental functioning
    • Skuse DH: X-linked genes and mental functioning. Hum Mol Genet, 2005; 14: R27-32
    • (2005) Hum Mol Genet , vol.14
    • Skuse, D.H.1
  • 11
    • 15244363491 scopus 로고    scopus 로고
    • The DNA sequence of the human X chromosome
    • Ross MT, Grafham DV, Coffey AJ et al: The DNA sequence of the human X chromosome. Nature, 2005; 434: 325-37
    • (2005) Nature , vol.434 , pp. 325-337
    • Ross, M.T.1    Grafham, D.V.2    Coffey, A.J.3
  • 12
    • 0025765855 scopus 로고
    • Non-specific mental retardation
    • Kerr B, Turner G, Mulley J et al: Non-specific mental retardation. J Med Genet, 1991; 28: 378-82
    • (1991) J Med Genet , vol.28 , pp. 378-382
    • Kerr, B.1    Turner, G.2    Mulley, J.3
  • 13
    • 4243282333 scopus 로고    scopus 로고
    • Genes for cognitive function: Developments on the X
    • Gecz J, Mulley J: Genes for cognitive function: developments on the X. Genome Res, 2000; 10: 157-63
    • (2000) Genome Res , vol.10 , pp. 157-163
    • Gecz, J.1    Mulley, J.2
  • 14
    • 0020536179 scopus 로고
    • The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers
    • Fishburn J, Turner G, Daniel A, Brookwell R: The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers. Am J Med Genet, 1983; 14: 713-24
    • (1983) Am J Med Genet , vol.14 , pp. 713-724
    • Fishburn, J.1    Turner, G.2    Daniel, A.3    Brookwell, R.4
  • 15
    • 0036543312 scopus 로고    scopus 로고
    • Rho proteins, mental retardation and the cellular basis of cognition
    • Ramakers GJA: Rho proteins, mental retardation and the cellular basis of cognition. Trends Neurosci, 2002; 25: 191-99
    • (2002) Trends Neurosci , vol.25 , pp. 191-199
    • Ramakers, G.J.A.1
  • 16
    • 33847729536 scopus 로고    scopus 로고
    • Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium
    • de Brouver AP, Yntema HG, Kleefstra T et al: Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mut, 2007; 28: 207-8
    • (2007) Hum Mut , vol.28 , pp. 207-208
    • de Brouver, A.P.1    Yntema, H.G.2    Kleefstra, T.3
  • 17
    • 0037866676 scopus 로고    scopus 로고
    • Nonsyndromic X-linked mental retardation: Where are the missing mutations?
    • Ropers HH, Hoeltzenbein M, Kalscheuer V et al: Nonsyndromic X-linked mental retardation: where are the missing mutations? Trends in Genetics, 2003; 19: 316-21
    • (2003) Trends in Genetics , vol.19 , pp. 316-321
    • Ropers, H.H.1    Hoeltzenbein, M.2    Kalscheuer, V.3
  • 18
    • 33645120412 scopus 로고    scopus 로고
    • X-linked mental retardation: A clinical guide
    • Raymond FL: X-linked mental retardation: a clinical guide. J Med Genet, 2005; 43: 193-200
    • (2005) J Med Genet , vol.43 , pp. 193-200
    • Raymond, F.L.1
  • 19
    • 33748992010 scopus 로고    scopus 로고
    • The genetics of mental retardation
    • Raymond FL, Tarpey P: The genetics of mental retardation. Hum Mol Genet, 2006; 15: R110-16
    • (2006) Hum Mol Genet , vol.15
    • Raymond, F.L.1    Tarpey, P.2
  • 20
    • 34548690778 scopus 로고    scopus 로고
    • High-resolution genomic microarrays for X-linked mental retardation
    • Lugtenberg D, Veltman JA, van Bokhoven H: High-resolution genomic microarrays for X-linked mental retardation. Genetics in Medicine, 2007; 9: 560-65
    • (2007) Genetics in Medicine , vol.9 , pp. 560-565
    • Lugtenberg, D.1    Veltman, J.A.2    van Bokhoven, H.3
  • 21
    • 34948899272 scopus 로고    scopus 로고
    • Detection of genomic copy number changes in patients with idiopathic mental retardation by High-Resolution X-Array-CGH: Important role for increased gene dosage of XLMR genes
    • Froyen G, van Esch H, Bauters M et al: Detection of genomic copy number changes in patients with idiopathic mental retardation by High-Resolution X-Array-CGH: important role for increased gene dosage of XLMR genes. Hum Mut, 2007; 28: 1042-43
    • (2007) Hum Mut , vol.28 , pp. 1042-1043
    • Froyen, G.1    van Esch, H.2    Bauters, M.3
  • 22
    • 33845526951 scopus 로고    scopus 로고
    • X-linked mental retardation: A comprehensive molecular screen of 47 candidate genes from a 7,4 interval in Xp11
    • Jensen LR, Lenzner S, Moser B et al: X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7,4 interval in Xp11. Eur J Hum Genet, 2007; 15: 68-75
    • (2007) Eur J Hum Genet , vol.15 , pp. 68-75
    • Jensen, L.R.1    Lenzner, S.2    Moser, B.3
  • 23
    • 55549106597 scopus 로고    scopus 로고
    • Nussbaum RL, Ledbetter DH: The fragile X syndrome in: Scriver CR, Beaudet AL, Sly WS, Valle D. The metabolic and molecular bases of inherited disease. McGraw Hill Inc. New York, 1995; 795-810
    • Nussbaum RL, Ledbetter DH: The fragile X syndrome in: Scriver CR, Beaudet AL, Sly WS, Valle D. The metabolic and molecular bases of inherited disease. McGraw Hill Inc. New York, 1995; 795-810
  • 24
    • 0001966753 scopus 로고    scopus 로고
    • The physical and behavioural phenotype in: Hagerman RJ
    • Treatment and Research. Johns Hopkins University Press
    • Hagerman RJ: The physical and behavioural phenotype in: Hagerman RJ. Fragile X syndrome: Diagnosis, Treatment and Research. Johns Hopkins University Press 2002
    • (2002) Fragile X syndrome: Diagnosis
    • Hagerman, R.J.1
  • 25
    • 0006006216 scopus 로고    scopus 로고
    • The molecular biology of the Fragile X mutation in: Hagerman RJ
    • Treatment and Research. Johns Hopkins University Press
    • Brown WT: The molecular biology of the Fragile X mutation in: Hagerman RJ. Fragile X syndrome: Diagnosis, Treatment and Research. Johns Hopkins University Press, 2002
    • (2002) Fragile X syndrome: Diagnosis
    • Brown, W.T.1
  • 26
    • 0034524964 scopus 로고    scopus 로고
    • Splitting and lumping in the nosology of XLMR
    • Stevenson RE: Splitting and lumping in the nosology of XLMR. Am J Med Genet, 2000; 97: 174-82
    • (2000) Am J Med Genet , vol.97 , pp. 174-182
    • Stevenson, R.E.1
  • 29
    • 0001665187 scopus 로고    scopus 로고
    • Mutations in the human ortholog of aristaless cause X-linked mental retardation and epilepsy
    • Stromme P, Mangelsdorf M, Shaw M et al: Mutations in the human ortholog of aristaless cause X-linked mental retardation and epilepsy. Nat Genet, 2002; 30: 441-45
    • (2002) Nat Genet , vol.30 , pp. 441-445
    • Stromme, P.1    Mangelsdorf, M.2    Shaw, M.3
  • 30
    • 10744222257 scopus 로고    scopus 로고
    • Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation
    • Kato M, Das S, Petras K et al: Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mut, 2004; 23: 147-59
    • (2004) Hum Mut , vol.23 , pp. 147-159
    • Kato, M.1    Das, S.2    Petras, K.3
  • 31
    • 20144381139 scopus 로고    scopus 로고
    • Non-syndromic X-linked mental retardation: From a molecular to a clinical point of view
    • Renieri A, Pescucci C, Longo I et al: Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view. J Cell Physiol, 2005: 204; 8-20
    • (2005) J Cell Physiol , vol.204 , pp. 8-20
    • Renieri, A.1    Pescucci, C.2    Longo, I.3
  • 32
    • 0442326368 scopus 로고    scopus 로고
    • A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPases
    • Kohn M, Steinbach P, Hameister H et al: A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPases. Eur J Hum Genet, 2004; 12: 29-37
    • (2004) Eur J Hum Genet , vol.12 , pp. 29-37
    • Kohn, M.1    Steinbach, P.2    Hameister, H.3
  • 33
    • 12144291350 scopus 로고    scopus 로고
    • X-linked mental retardation and autism are associated with mutation in the NLGN4 gene, a member of the neuroligin family
    • Laumonnier F, Bonnet-Brilhaut F, Gomot M et al: X-linked mental retardation and autism are associated with mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet, 2004; 74: 552-57
    • (2004) Am J Hum Genet , vol.74 , pp. 552-557
    • Laumonnier, F.1    Bonnet-Brilhaut, F.2    Gomot, M.3
  • 34
    • 0037656313 scopus 로고    scopus 로고
    • Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
    • Jamain S, Quach H, Betancur C et al: Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nature Genet, 2003; 34: 27-29
    • (2003) Nature Genet , vol.34 , pp. 27-29
    • Jamain, S.1    Quach, H.2    Betancur, C.3
  • 35
    • 0032872234 scopus 로고    scopus 로고
    • Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation
    • Chelly J: Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation. Hum Mol Genet, 1999; 10: 1833-38
    • (1999) Hum Mol Genet , vol.10 , pp. 1833-1838
    • Chelly, J.1
  • 37
    • 0030968580 scopus 로고    scopus 로고
    • Rho GTPases and signaling networks
    • van Aelst L, D'Souza-Schorey C: Rho GTPases and signaling networks. Genes Dev, 1997; 11: 2295-322
    • (1997) Genes Dev , vol.11 , pp. 2295-2322
    • van Aelst, L.1    D'Souza-Schorey, C.2
  • 38
    • 0032559362 scopus 로고    scopus 로고
    • Rho GTP-ases and the actin cytoskeleton
    • Hall A: Rho GTP-ases and the actin cytoskeleton. Science, 1998; 279: 509-14
    • (1998) Science , vol.279 , pp. 509-514
    • Hall, A.1
  • 39
    • 0141455375 scopus 로고    scopus 로고
    • Is mental retardation a defect of synapse structure and function
    • Chechlacz M, Glesson JG: Is mental retardation a defect of synapse structure and function. Pediatr Neurol, 2003; 29: 11-17
    • (2003) Pediatr Neurol , vol.29 , pp. 11-17
    • Chechlacz, M.1    Glesson, J.G.2
  • 40
    • 7344219887 scopus 로고    scopus 로고
    • Non-specific X-linked semidominant mental retardation by mutations in Rab GDP-dissociation inhibitor
    • Bienvenu T, des Portes V, Saint Martin A et al: Non-specific X-linked semidominant mental retardation by mutations in Rab GDP-dissociation inhibitor. Hum Mol Genet, 1998; 7: 1311-15
    • (1998) Hum Mol Genet , vol.7 , pp. 1311-1315
    • Bienvenu, T.1    des Portes, V.2    Saint Martin, A.3
  • 41
    • 12944333135 scopus 로고    scopus 로고
    • Ishizaki H, Miyoshi J, Kamiya et al: Role of Rab GDP dissociation inhibitor α in regulating plasticity of hippocampal neurotransmission. Proc Natl Acad Sci USA, 2000; 97: 1587-92
    • Ishizaki H, Miyoshi J, Kamiya et al: Role of Rab GDP dissociation inhibitor α in regulating plasticity of hippocampal neurotransmission. Proc Natl Acad Sci USA, 2000; 97: 1587-92
  • 42
    • 0029832136 scopus 로고    scopus 로고
    • Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome
    • Trivier E, De Cesare D, Jacquot S et al: Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature, 1996; 384: 567-70
    • (1996) Nature , vol.384 , pp. 567-570
    • Trivier, E.1    De Cesare, D.2    Jacquot, S.3
  • 43
    • 0029022770 scopus 로고
    • Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
    • Petrij F, Giles RH, Dauwerse HG et al: Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature, 1995; 376: 348-51
    • (1995) Nature , vol.376 , pp. 348-351
    • Petrij, F.1    Giles, R.H.2    Dauwerse, H.G.3
  • 44
    • 0035873614 scopus 로고    scopus 로고
    • Increased histone acetyltransferase and lysine acetyltransferase activity and biphasic activation of the ERK/RSK cascade in insular cortex during novel taste learning
    • Swank MW, Sweatt JD: Increased histone acetyltransferase and lysine acetyltransferase activity and biphasic activation of the ERK/RSK cascade in insular cortex during novel taste learning. J Neurosci, 2001; 21: 3383-91
    • (2001) J Neurosci , vol.21 , pp. 3383-3391
    • Swank, M.W.1    Sweatt, J.D.2
  • 45
    • 33744498065 scopus 로고    scopus 로고
    • Genetics and pathophysiology of mental retardation
    • Chelly J, Khelfaoui M, Francis F et al: Genetics and pathophysiology of mental retardation. Eur J Hum Genet, 2006; 14: 701-13
    • (2006) Eur J Hum Genet , vol.14 , pp. 701-713
    • Chelly, J.1    Khelfaoui, M.2    Francis, F.3
  • 46
    • 0032910443 scopus 로고    scopus 로고
    • A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
    • Merienne K, Jouquot S, Pannetier S et al: A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nature Genet, 1999; 22: 13-14
    • (1999) Nature Genet , vol.22 , pp. 13-14
    • Merienne, K.1    Jouquot, S.2    Pannetier, S.3
  • 47
    • 0035870846 scopus 로고    scopus 로고
    • MECP2 is highly mutated in X-linked mental retardation
    • Couvert P, Bienvenu T, Aquaviva C et al: MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet, 2001; 10: 941-46
    • (2001) Hum Mol Genet , vol.10 , pp. 941-946
    • Couvert, P.1    Bienvenu, T.2    Aquaviva, C.3
  • 48
    • 18444414277 scopus 로고    scopus 로고
    • Expanding phenotype of XNP mutations: Mild to moderate mental retardation
    • Yntenema H, Poppelaars F, Derksen E et al: Expanding phenotype of XNP mutations: Mild to moderate mental retardation. Am J Med Genet, 2002; 110: 243-47
    • (2002) Am J Med Genet , vol.110 , pp. 243-247
    • Yntenema, H.1    Poppelaars, F.2    Derksen, E.3
  • 49
    • 9144230687 scopus 로고    scopus 로고
    • Mutations in the ZNF41 gene are associated with cognitive deficits: Identification of a new candidate for X-linked mental retardation
    • Schoichet SA, Hoffman K, Menzel C et al: Mutations in the ZNF41 gene are associated with cognitive deficits: Identification of a new candidate for X-linked mental retardation. Am J Hum Genet, 2003; 73: 1341-54
    • (2003) Am J Hum Genet , vol.73 , pp. 1341-1354
    • Schoichet, S.A.1    Hoffman, K.2    Menzel, C.3
  • 51
    • 31544453949 scopus 로고    scopus 로고
    • ZNF674: A new Kruppel-Associated Box-Containing Zinc-Finger Gene involved in non-syndromic X-linked mental retardation
    • Lugtenberg D, Yntema HG, Banning MJG et al: ZNF674: A new Kruppel-Associated Box-Containing Zinc-Finger Gene involved in non-syndromic X-linked mental retardation. Am J Med Genet, 2006; 78: 265-78
    • (2006) Am J Med Genet , vol.78 , pp. 265-278
    • Lugtenberg, D.1    Yntema, H.G.2    Banning, M.J.G.3
  • 52
    • 85087537268 scopus 로고    scopus 로고
    • Multifunctional zinc finger proteins in development and disease
    • Landomeri M, Dellaire G: Multifunctional zinc finger proteins in development and disease. Ann Hum Genet, 2002; 66: 33-42
    • (2002) Ann Hum Genet , vol.66 , pp. 33-42
    • Landomeri, M.1    Dellaire, G.2
  • 54
    • 0031916187 scopus 로고    scopus 로고
    • Arginine kinase expression and localisation in growth cone migration
    • Wang Ye, Esbensen P, Bentley D: Arginine kinase expression and localisation in growth cone migration. J Neurosci, 1998; 18: 987-98
    • (1998) J Neurosci , vol.18 , pp. 987-998
    • Ye, W.1    Esbensen, P.2    Bentley, D.3
  • 56
    • 0032541392 scopus 로고    scopus 로고
    • The angiotensin II type 2 (AT2) receptor promotes axonal regeneration in the optic nerve of adult rats
    • Lucius R, Gallinat S, Rosenstiel P et al: The angiotensin II type 2 (AT2) receptor promotes axonal regeneration in the optic nerve of adult rats. J Exp Med, 1998; 188: 661-70
    • (1998) J Exp Med , vol.188 , pp. 661-670
    • Lucius, R.1    Gallinat, S.2    Rosenstiel, P.3
  • 57
    • 0036009738 scopus 로고    scopus 로고
    • Angiotensin AT2 receptor ligands: Do they have potential as future treatments for neurological disease?
    • Rosentiel P, Gallinat S, Artl A et al: Angiotensin AT2 receptor ligands: Do they have potential as future treatments for neurological disease? CNS Drugs, 2002; 16: 145-53
    • (2002) CNS Drugs , vol.16 , pp. 145-153
    • Rosentiel, P.1    Gallinat, S.2    Artl, A.3
  • 58
    • 3242696203 scopus 로고    scopus 로고
    • Mutations in the DLG3 gene case nonsyndromic X-linked mental retardation
    • Tarpey P, Parnau J, Blow M et al: Mutations in the DLG3 gene case nonsyndromic X-linked mental retardation. Am J Hum Genet, 2004; 75: 318-24
    • (2004) Am J Hum Genet , vol.75 , pp. 318-324
    • Tarpey, P.1    Parnau, J.2    Blow, M.3
  • 59
    • 0039793622 scopus 로고    scopus 로고
    • SAP102, a novel post synaptic protein that interacts with NMDA complexes in vivo
    • Muller BM, Kistner U, Kindler S et al: SAP102, a novel post synaptic protein that interacts with NMDA complexes in vivo. Neuron, 1996; 17: 255-66
    • (1996) Neuron , vol.17 , pp. 255-266
    • Muller, B.M.1    Kistner, U.2    Kindler, S.3
  • 60
    • 0036185526 scopus 로고    scopus 로고
    • Genetic effects on human cognition: Lessons from the study of mental retardation syndromes
    • Nokelainen P, Flint J: Genetic effects on human cognition: lessons from the study of mental retardation syndromes. J Neurol Neurosurg Psychiatry, 2002; 72: 287-96
    • (2002) J Neurol Neurosurg Psychiatry , vol.72 , pp. 287-296
    • Nokelainen, P.1    Flint, J.2
  • 61
    • 4243282333 scopus 로고    scopus 로고
    • Genes for cognitive function: Developments on the X
    • Gecz J, Mulley J: Genes for cognitive function: developments on the X. Genome Res 2000; 10: 157-63
    • (2000) Genome Res , vol.10 , pp. 157-163
    • Gecz, J.1    Mulley, J.2
  • 62
    • 0037531657 scopus 로고    scopus 로고
    • Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia
    • Philip N, Chabrol B, Lossi AM et al: Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. J Med Genet, 2003; 40: 441-46
    • (2003) J Med Genet , vol.40 , pp. 441-446
    • Philip, N.1    Chabrol, B.2    Lossi, A.M.3
  • 63
    • 27644576875 scopus 로고    scopus 로고
    • X-linked oligophrenic vermian dysgenesis: Syndromic vs non-syndromic X-linked mental retardation?
    • Higgins JJ, Topaloglu H: X-linked oligophrenic vermian dysgenesis: syndromic vs non-syndromic X-linked mental retardation? Neurology, 2005; 65: 1346-47
    • (2005) Neurology , vol.65 , pp. 1346-1347
    • Higgins, J.J.1    Topaloglu, H.2
  • 64
    • 27644521284 scopus 로고    scopus 로고
    • Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia
    • Zanni G, Saillour Y, Nagara M et al: Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. Neurology, 2005; 65: 1364-69
    • (2005) Neurology , vol.65 , pp. 1364-1369
    • Zanni, G.1    Saillour, Y.2    Nagara, M.3
  • 65
    • 18344382916 scopus 로고    scopus 로고
    • X-linked mental retardation: Further lumping, splitting and emerging phenotypes
    • Kleefstra T, Hamel BCJ: X-linked mental retardation: further lumping, splitting and emerging phenotypes. Clin Genet, 2005; 67: 451-67
    • (2005) Clin Genet , vol.67 , pp. 451-467
    • Kleefstra, T.1    Hamel, B.C.J.2
  • 66
    • 33646505092 scopus 로고    scopus 로고
    • X-linked mental retardation: Many genes for a complex disorder
    • Ropers HJ: X-linked mental retardation: many genes for a complex disorder. Curr Opin Genet Dev, 2006; 16: 1-10
    • (2006) Curr Opin Genet Dev , vol.16 , pp. 1-10
    • Ropers, H.J.1
  • 67
    • 0030862260 scopus 로고    scopus 로고
    • Curry JC, Stevenson RE, Aughton D, Byrne J: Evaluation of mental retardation: recommendations of consensus conference. Am J Med Genet, 1997; 468-77
    • Curry JC, Stevenson RE, Aughton D, Byrne J: Evaluation of mental retardation: recommendations of consensus conference. Am J Med Genet, 1997; 468-77
  • 68
    • 12744278217 scopus 로고    scopus 로고
    • Diagnostic investigations in individuals with mental retardation: A systematic literature review of their usefulness
    • Karnebeek CDM, Jansweijer MCE, Leenders AGE et al: Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. Eur J Hum Genet, 2005; 13: 6-25
    • (2005) Eur J Hum Genet , vol.13 , pp. 6-25
    • Karnebeek, C.D.M.1    Jansweijer, M.C.E.2    Leenders, A.G.E.3
  • 69
    • 33745314874 scopus 로고    scopus 로고
    • Clinical genetic evaluation of the child with mental retardation or developmental delay
    • Moeschler JB, Shevell M: Clinical genetic evaluation of the child with mental retardation or developmental delay. Pediatrics, 2006; 117: 2304-16
    • (2006) Pediatrics , vol.117 , pp. 2304-2316
    • Moeschler, J.B.1    Shevell, M.2
  • 70
    • 33749465589 scopus 로고    scopus 로고
    • Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
    • Rauch A, Hoyer J, Guth S et al: Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A, 2006; 19: 839-47
    • (2006) Am J Med Genet A , vol.19 , pp. 839-847
    • Rauch, A.1    Hoyer, J.2    Guth, S.3
  • 71
    • 0037432002 scopus 로고    scopus 로고
    • Practice evaluation of the child with global developmental delay
    • Shevel M, Ashwal S, Donley D et al: Practice evaluation of the child with global developmental delay. Neurology, 2003; 60: 367-80
    • (2003) Neurology , vol.60 , pp. 367-380
    • Shevel, M.1    Ashwal, S.2    Donley, D.3
  • 72
    • 0036948994 scopus 로고    scopus 로고
    • X-linked mental retardation: Vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms
    • Frints SGM, Froyen G, Marynen P, Fryns JP: X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms. Clin Genet, 2002; 62: 423-32
    • (2002) Clin Genet , vol.62 , pp. 423-432
    • Frints, S.G.M.1    Froyen, G.2    Marynen, P.3    Fryns, J.P.4
  • 73
    • 17744407669 scopus 로고    scopus 로고
    • Recurrence risk in undiagnosed mental retardation
    • Turner G, Partington M: Recurrence risk in undiagnosed mental retardation. J Med Genet, 2000; 31: 45-47
    • (2000) J Med Genet , vol.31 , pp. 45-47
    • Turner, G.1    Partington, M.2
  • 74
    • 0031922095 scopus 로고    scopus 로고
    • Recurrence risks in mental retardation
    • Crow YJ, Tolmie JL: Recurrence risks in mental retardation. J Med Genet, 1998; 35: 177-82
    • (1998) J Med Genet , vol.35 , pp. 177-182
    • Crow, Y.J.1    Tolmie, J.L.2
  • 75
    • 13844308677 scopus 로고    scopus 로고
    • A population-based study of the recurrence of developmental disabilities - Metropolitan Atlanta Developmental Disabilities Surveillance Program, 1991-94
    • Van Naarden K, Braun K, Autry A, Boyle C: A population-based study of the recurrence of developmental disabilities - Metropolitan Atlanta Developmental Disabilities Surveillance Program, 1991-94. Pediatric and Perinatal Epidemiology, 2005; 19: 69-79
    • (2005) Pediatric and Perinatal Epidemiology , vol.19 , pp. 69-79
    • Van Naarden, K.1    Braun, K.2    Autry, A.3    Boyle, C.4


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