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Volumn 67, Issue 6, 2005, Pages 451-467

X-linked mental retardation: Further lumping, splitting and emerging phenotypes

Author keywords

MRX; MRXS; Phenotypes; Review; XLMR

Indexed keywords

BINDING PROTEIN; GENE PRODUCT; HOMEODOMAIN PROTEIN; METHYL CPG BINDING PROTEIN 2;

EID: 18344382916     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00434.x     Document Type: Short Survey
Times cited : (51)

References (135)
  • 2
    • 0003676491 scopus 로고    scopus 로고
    • X-linked mental retardation; a clinical and molecular study
    • PhD Thesis. Nijmegen (webdoc.ubn.-kun.nl/mono/h/hamel_b/xlinmere.pdf)
    • Hamel BCJ. X-linked mental retardation; a clinical and molecular study. PhD Thesis. Nijmegen (webdoc.ubn.-kun.nl/mono/h/hamel_b/xlinmere.pdf) 1999.
    • (1999)
    • Hamel, B.C.J.1
  • 3
    • 0036948248 scopus 로고    scopus 로고
    • The epidemiology of mental retardation: Challenges and opportunities in the new millennium
    • Leonard H, Wen X. The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev 2002: 8: 117-134.
    • (2002) Ment. Retard. Dev. Disabil. Res. Rev. , vol.8 , pp. 117-134
    • Leonard, H.1    Wen, X.2
  • 4
    • 0016248119 scopus 로고
    • X-linked mental retardation
    • Turner G, Turner B. X-linked mental retardation. J Med Genet 1974: 11: 109-113.
    • (1974) J. Med. Genet. , vol.11 , pp. 109-113
    • Turner, G.1    Turner, B.2
  • 5
    • 0003843231 scopus 로고
    • A clinical and genetic study on 1280 cases of mental defect
    • London Medical Research Council
    • Penrose LS. A clinical and genetic study on 1280 cases of mental defect. Special report series, Medical Research Council, London 1938.
    • (1938) Special Report Series
    • Penrose, L.S.1
  • 6
    • 0015336653 scopus 로고
    • A theory of X-linkage of major intellectual traits
    • Lehrke RG. A theory of X-linkage of major intellectual traits. Am J Ment Defic 1972: 76: 611.
    • (1972) Am. J. Ment. Defic. , vol.76 , pp. 611
    • Lehrke, R.G.1
  • 7
    • 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: 461-469.
    • (1980) Am. J. Med. Genet. , vol.7 , pp. 461-469
    • Herbst, D.S.1    Miller, J.R.2
  • 8
    • 0035379735 scopus 로고    scopus 로고
    • The epidemiology of mental retardation of unknown cause
    • Croen LA, Grether JK, Selvin S. The epidemiology of mental retardation of unknown cause. Pediatrics 2001: 107: E86.
    • (2001) Pediatrics , vol.107
    • Croen, L.A.1    Grether, J.K.2    Selvin, S.3
  • 9
    • 0036948994 scopus 로고    scopus 로고
    • X-linked mental retardation. Vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms
    • Frints SG, Froyen G, Marynen P, Fryns JP. X-linked mental retardation. vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms. Clin Genet 2002: 62: 423-432.
    • (2002) Clin. Genet. , vol.62 , pp. 423-432
    • Frints, S.G.1    Froyen, G.2    Marynen, P.3    Fryns, J.P.4
  • 11
    • 0035746538 scopus 로고    scopus 로고
    • FMR1 and the fragile X syndrome: Human genome epidemiology review
    • Crawford DC, Acuna JM, Sherman SL. FMR1 and the fragile X syndrome: human genome epidemiology review. Genet Med 2001: 3: 359-371.
    • (2001) Genet. Med. , vol.3 , pp. 359-371
    • Crawford, D.C.1    Acuna, J.M.2    Sherman, S.L.3
  • 12
    • 16944362509 scopus 로고    scopus 로고
    • Screening and diagnosis for the fragile X syndrome among the mentally retarded: An epidemiological and psychological survey
    • Collaborative Fragile X, Study Group
    • de Vries BBA, van den Ouweland AMW, Mohkamsing S et al. Collaborative Fragile X, Study Group. Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Am J Hum Genet 1997: 61: 660-667.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 660-667
    • de Vries, B.B.A.1    van den Ouweland, A.M.W.2    Mohkamsing, S.3
  • 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: 713-724.
    • (1983) Am. J. Med. Genet. , vol.14 , pp. 713-724
    • Fishburn, J.1    Turner, G.2    Daniel, A.3    Brookwell, R.4
  • 15
    • 4644244222 scopus 로고    scopus 로고
    • Monogenic X-linked mental retardation: Is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations
    • Mandel JL, Chelly J. Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations. Eur J Hum Genet 2004: 12: 689-693.
    • (2004) Eur. J. Hum. Genet. , vol.12 , pp. 689-693
    • Mandel, J.L.1    Chelly, J.2
  • 16
    • 0035991641 scopus 로고    scopus 로고
    • Low frequency of MECP2 mutations in mentally retarded males
    • Yntema HG, Kleefstra T, Oudakker AR et al. Low frequency of MECP2 mutations in mentally retarded males. Eur J Hum Genet 2002: 10: 487-490.
    • (2002) Eur. J. Hum. Genet. , vol.10 , pp. 487-490
    • Yntema, H.G.1    Kleefstra, T.2    Oudakker, A.R.3
  • 18
    • 0037090887 scopus 로고    scopus 로고
    • ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
    • Bienvenu T, Poirier K, Friocourt G et al. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet 2002: 11: 981-991.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 981-991
    • Bienvenu, T.1    Poirier, K.2    Friocourt, G.3
  • 19
    • 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: 941-946.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 941-946
    • Couvert, P.1    Bienvenu, T.2    Aquaviva, C.3
  • 20
    • 3042544793 scopus 로고    scopus 로고
    • High prevalence of SLC6A8 deficiency in X-linked mental retardation
    • Rosenberg EH, Almeida LS, Kleefstra T et al. High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet 2004: 75: 97-105.
    • (2004) Am. J. Hum. Genet. , vol.75 , pp. 97-105
    • Rosenberg, E.H.1    Almeida, L.S.2    Kleefstra, T.3
  • 21
    • 18344372492 scopus 로고    scopus 로고
    • Molecular and biochemical testing of creatine deficiency in an MR population suggests a 1% prevalence
    • American Society of Human Genetics 54th annual meeting, Toronto
    • Wood T, Rosenberg EH, Clark AJ et al. Molecular and biochemical testing of creatine deficiency in an MR population suggests a 1% prevalence. American Society of Human Genetics, 54th annual meeting, Toronto 2004.
    • (2004)
    • Wood, T.1    Rosenberg, E.H.2    Clark, A.J.3
  • 22
    • 19444369845 scopus 로고    scopus 로고
    • Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: A cohort of 171 cases
    • Kammoun F, de Roux N, Boespflug-Tanguy O et al. Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases. J Med Genet 2004: 41: E85.
    • (2004) J. Med. Genet. , vol.41
    • Kammoun, F.1    de Roux, N.2    Boespflug-Tanguy, O.3
  • 23
    • 85088186752 scopus 로고    scopus 로고
    • Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation?
    • Maranduba CM, Sa ME, Muller OG et al. Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation? Am J Med Genet 2004: 124A: 413-415.
    • (2004) Am. J. Med. Genet. , vol.124 A , pp. 413-415
    • Maranduba, C.M.1    Sa, M.E.2    Muller, O.G.3
  • 24
    • 0032580161 scopus 로고    scopus 로고
    • Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
    • Billuart P, Bienvenu T, Ronce N et al. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature 1998: 392: 923-926.
    • (1998) Nature , vol.392 , pp. 923-926
    • Billuart, P.1    Bienvenu, T.2    Ronce, N.3
  • 25
    • 0033775672 scopus 로고    scopus 로고
    • Mutations in ARHGEF6, encoding a guanine nucleotide exhange factor for Rho GTPases, in patients with X-linked mental retardation
    • Kutsche K, Yntema H, Brandt A et al. Mutations in ARHGEF6, encoding a guanine nucleotide exhange factor for Rho GTPases, in patients with X-linked mental retardation. Nat Genet 2000: 26: 247-250.
    • (2000) Nat. Genet. , vol.26 , pp. 247-250
    • Kutsche, K.1    Yntema, H.2    Brandt, A.3
  • 26
    • 0031710557 scopus 로고    scopus 로고
    • PAK3 mutation in nonsyndromic X-linked mental retardation
    • Allen KM, Gleeson JG, Bagrodia S et al. PAK3 mutation in nonsyndromic X-linked mental retardation. Nat Genet 1998: 20: 25-30.
    • (1998) Nat. Genet. , vol.20 , pp. 25-30
    • Allen, K.M.1    Gleeson, J.G.2    Bagrodia, S.3
  • 27
    • 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: 441-446.
    • (2003) J. Med. Genet. , vol.40 , pp. 441-446
    • Philip, N.1    Chabrol, B.2    Lossi, A.M.3
  • 28
    • 0038495879 scopus 로고    scopus 로고
    • Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia
    • Bergmann C, Zerres K, Senderek J et al. Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. Brain 2003: 126: 1537-1544.
    • (2003) Brain , vol.126 , pp. 1537-1544
    • Bergmann, C.1    Zerres, K.2    Senderek, J.3
  • 29
    • 0942268997 scopus 로고    scopus 로고
    • Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene
    • des Portes V, Boddaert N, Sacco S et al. Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene. Am J Med Genet Part A 2004: 124A: 364-371.
    • (2004) Am. J. Med. Genet. , vol.124 A , Issue.PART A , pp. 364-371
    • des Portes, V.1    Boddaert, N.2    Sacco, S.3
  • 30
    • 18344365518 scopus 로고    scopus 로고
    • Further delineation of the clinical phenotype associated with mutations in OPHN1 gene: A clinically recognisable syndrome
    • American Society of Human Genetics 54th annual meeting, Toronto
    • Philip N, Chabrol B, Raybaud C et al. Further delineation of the clinical phenotype associated with muttaions in OPHN1 gene: a clinically recognisable syndrome. American Society of Human Genetics, 54th annual meeting, Toronto 2004.
    • (2004)
    • Philip, N.1    Chabrol, B.2    Raybaud, C.3
  • 31
    • 0037002625 scopus 로고    scopus 로고
    • An update on clinically applicable diagnostic criteria in Rett syndrome
    • Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001
    • Hagberg B, Hanefeld F, Percy A, Skjeldal O. An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. Europ J Paediatr Neurol 2002: 6: 293-297.
    • (2002) Europ. J. Paediatr. Neurol. , vol.6 , pp. 293-297
    • Hagberg, B.1    Hanefeld, F.2    Percy, A.3    Skjeldal, O.4
  • 32
    • 12144287057 scopus 로고    scopus 로고
    • A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
    • Mnatzakanian GN, Lohi H, Munteanu I et al. A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat Genet 2004: 36: 339-341.
    • (2004) Nat. Genet. , vol.36 , pp. 339-341
    • Mnatzakanian, G.N.1    Lohi, H.2    Munteanu, I.3
  • 33
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
    • Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999: 23: 185-188.
    • (1999) Nat. Genet. , vol.23 , pp. 185-188
    • Amir, R.E.1    Van den Veyver, I.B.2    Wan, M.3    Tran, C.Q.4    Francke, U.5    Zoghbi, H.Y.6
  • 34
    • 0034711147 scopus 로고    scopus 로고
    • Two affected boys in a Rett syndrome family: Clinical and molecular findings
    • Villard L, Kpebe A, Cardoso C, Chelly J, Tardieu M, Fontes M. Two affected boys in a Rett syndrome family: clinical and molecular findings. Neurology 2000: 55: 1188-1193.
    • (2000) Neurology , vol.55 , pp. 1188-1193
    • Villard, L.1    Kpebe, A.2    Cardoso, C.3    Chelly, J.4    Tardieu, M.5    Fontes, M.6
  • 35
    • 0033365401 scopus 로고    scopus 로고
    • Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
    • Wan M, Lee SSJ, Zhang X et al. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet 1999: 65: 1520-1529.
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 1520-1529
    • Wan, M.1    Lee, S.S.J.2    Zhang, X.3
  • 36
    • 0035849529 scopus 로고    scopus 로고
    • MeCP2 mutations in children with and without the phenotype of Rett syndrome
    • Hoffbuhr K, Devaney JM, LaFleur B et al. MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology 2001: 56: 1486-1495.
    • (2001) Neurology , vol.56 , pp. 1486-1495
    • Hoffbuhr, K.1    Devaney, J.M.2    LaFleur, B.3
  • 37
    • 0036211908 scopus 로고    scopus 로고
    • MECP2 mutation in a boy with severe neonatal encephalopathy: Clinical, neuropathological and molecular findings
    • Geerdink N, Rotteveel JJ, Lammens M et al. MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings. Neuropediatrics 2002: 33: 33-36.
    • (2002) Neuropediatrics , vol.33 , pp. 33-36
    • Geerdink, N.1    Rotteveel, J.J.2    Lammens, M.3
  • 38
    • 0036120278 scopus 로고    scopus 로고
    • Rett syndrome: Clinical manifestations in males with MECP2 mutations
    • Zeev BB, Yaron Y, Schanen NC et al. Rett syndrome: clinical manifestations in males with MECP2 mutations. J Child Neurol 2002: 17: 20-24.
    • (2002) J. Child Neurol. , vol.17 , pp. 20-24
    • Zeev, B.B.1    Yaron, Y.2    Schanen, N.C.3
  • 40
    • 0034891348 scopus 로고    scopus 로고
    • Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene
    • Schwartzman JS, Bernardino A, Nishimura A, Gomes RR, Zatz M. Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene. Neuropediatrics 2001: 32: 162-164.
    • (2001) Neuropediatrics , vol.32 , pp. 162-164
    • Schwartzman, J.S.1    Bernardino, A.2    Nishimura, A.3    Gomes, R.R.4    Zatz, M.5
  • 41
    • 0034596477 scopus 로고    scopus 로고
    • Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
    • Clayton-Smith J, Watson P, Ramsden S, Black GCM. Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. Lancet 2000: 356: 830-832.
    • (2000) Lancet , vol.356 , pp. 830-832
    • Clayton-Smith, J.1    Watson, P.2    Ramsden, S.3    Black, G.C.M.4
  • 42
    • 0034761333 scopus 로고    scopus 로고
    • Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation
    • Armstrong J, Pineda M, Aibar E, Gean E, Monros E. Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. Ann Neurol 2001: 50: 692.
    • (2001) Ann. Neurol. , vol.50 , pp. 692
    • Armstrong, J.1    Pineda, M.2    Aibar, E.3    Gean, E.4    Monros, E.5
  • 43
    • 85047697344 scopus 로고    scopus 로고
    • Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy
    • Topcu M, Akyerl C, Sayi A et al. Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. Eur J Hum Genet 2002: 10: 77-81.
    • (2002) Eur. J. Hum. Genet. , vol.10 , pp. 77-81
    • Topcu, M.1    Akyerl, C.2    Sayi, A.3
  • 44
    • 10744229982 scopus 로고    scopus 로고
    • MECP2 analysis in mentally retarded patients: Implications for routine DNA diagnostics
    • Kleefstra T, Yntema HG, Nillesen WM et al. MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics. Eur J Hum Genet 2004: 12: 24-28.
    • (2004) Eur. J. Hum. Genet. , vol.12 , pp. 24-28
    • Kleefstra, T.1    Yntema, H.G.2    Nillesen, W.M.3
  • 45
    • 0036207456 scopus 로고    scopus 로고
    • A Mutation Hot Spot for Nonspecific X-Linked Mental Retardation in the MECP2 Gene Causes the PPM-X Syndrome
    • Klauck SM, Lindsay S, Beyer KS, Splitt M, Burn J, Poustka A. A Mutation Hot Spot for Nonspecific X-Linked Mental Retardation in the MECP2 Gene Causes the PPM-X Syndrome. Am J Hum Genet 2002: 70: 1034-1037.
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 1034-1037
    • Klauck, S.M.1    Lindsay, S.2    Beyer, K.S.3    Splitt, M.4    Burn, J.5    Poustka, A.6
  • 46
    • 18244432131 scopus 로고    scopus 로고
    • MECP2 mutation in male patients with non-specific X-linked mental retardation
    • Orrico A, Lam CW, Galli L et al. MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS Lett 2000: 481: 285-288.
    • (2000) FEBS Lett. , vol.481 , pp. 285-288
    • Orrico, A.1    Lam, C.W.2    Galli, L.3
  • 47
    • 0033804436 scopus 로고    scopus 로고
    • A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
    • Meloni I, Bruttini M, Longo I et al. A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am J Hum Genet 2000: 67: 982-985.
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 982-985
    • Meloni, I.1    Bruttini, M.2    Longo, I.3
  • 48
    • 0035078664 scopus 로고    scopus 로고
    • MECP2 mutation in non-fatal, non-progressive encephalopathy in a male
    • Imessaoudene B, Bonnefont JP, Royer G et al. MECP2 mutation in non-fatal, non-progressive encephalopathy in a male. J Med Genet 2001: 38: 171-174.
    • (2001) J. Med. Genet. , vol.38 , pp. 171-174
    • Imessaoudene, B.1    Bonnefont, J.P.2    Royer, G.3
  • 49
    • 0036557829 scopus 로고    scopus 로고
    • De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia
    • Kleefstra T, Yntema HG, Oudakker AR et al. De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia. Clin Genet 2002: 61: 359-362.
    • (2002) Clin. Genet. , vol.61 , pp. 359-362
    • Kleefstra, T.1    Yntema, H.G.2    Oudakker, A.R.3
  • 50
    • 18244382110 scopus 로고    scopus 로고
    • In frame deletion in MECP2 causes mild nonspecific mental retardation
    • Yntema HG, Oudakker AR, Kleefstra T et al. In frame deletion in MECP2 causes mild nonspecific mental retardation. Am J Med Genet 2002: 107: 81-83.
    • (2002) Am. J. Med. Genet. , vol.107 , pp. 81-83
    • Yntema, H.G.1    Oudakker, A.R.2    Kleefstra, T.3
  • 51
    • 0036389872 scopus 로고    scopus 로고
    • Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: Is there a need for routine screening?
    • Winnepenninckx B, Errijgers V, Hayez-Delatte F, Reyniers E, Kooy FR. Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: Is there a need for routine screening? Hum Mutat 2002: 20: 249-252.
    • (2002) Hum. Mutat. , vol.20 , pp. 249-252
    • Winnepenninckx, B.1    Errijgers, V.2    Hayez-Delatte, F.3    Reyniers, E.4    Kooy, F.R.5
  • 52
    • 1642367538 scopus 로고    scopus 로고
    • Rett syndrome: A prototypical neurodevelopmental disorder
    • Neul JL, Zoghbi HY. Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist 2004: 10: 118-128.
    • (2004) Neuroscientist , vol.10 , pp. 118-128
    • Neul, J.L.1    Zoghbi, H.Y.2
  • 53
    • 0036172191 scopus 로고    scopus 로고
    • Functional characterisation of MeCP2 mutations found in male patients with X linked mental retardation
    • Kudo S, Nomura Y, Segawa M et al. Functional characterisation of MeCP2 mutations found in male patients with X linked mental retardation. J Med Genet 2002: 39: 132-136.
    • (2002) J. Med. Genet. , vol.39 , pp. 132-136
    • Kudo, S.1    Nomura, Y.2    Segawa, M.3
  • 55
    • 0036324046 scopus 로고    scopus 로고
    • X-linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8
    • Bizzi A, Bugiani M, Salomons GS et al. X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Ann Neurol 2002: 52: 227-231.
    • (2002) Ann. Neurol. , vol.52 , pp. 227-231
    • Bizzi, A.1    Bugiani, M.2    Salomons, G.S.3
  • 56
    • 0035098030 scopus 로고    scopus 로고
    • Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?
    • Cecil KM, Salomons GS, Ball W et al. Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann Neurol 2001: 49: 401-404.
    • (2001) Ann. Neurol. , vol.49 , pp. 401-404
    • Cecil, K.M.1    Salomons, G.S.2    Ball, W.3
  • 59
    • 18344367230 scopus 로고    scopus 로고
    • X-Linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28
    • Hahn KA, Salomons GS, Tackels-Horne D et al. X-Linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. Am J Hum Genet 2002: 70: 1349-1356.
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 1349-1356
    • Hahn, K.A.1    Salomons, G.S.2    Tackels-Horne, D.3
  • 60
    • 19944427684 scopus 로고    scopus 로고
    • Two novel mutations in SLC6A8 cause creatine transporter defect and X-linked mental retardation in two unrelated dutch families
    • Mancini GMS, Catsman-Berrevoets CE, De Coo IFM et al. Two novel mutations in SLC6A8 cause creatine transporter defect and X-linked mental retardation in two unrelated dutch families. Am J Med Genet 2005: 132: 288-295.
    • (2005) Am. J. Med. Genet. , vol.132 , pp. 288-295
    • Mancini, G.M.S.1    Catsman-Berrevoets, C.E.2    De Coo, I.F.M.3
  • 61
    • 0034987448 scopus 로고    scopus 로고
    • X-linked creatine-transporter gene (SLC6A8) defect: A new creatine- deficiency syndrome
    • Salomons GS, van Dooren SJ, Verhoeven NM et al. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine- deficiency syndrome. Am J Hum Genet 2001: 68: 1497-1500.
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 1497-1500
    • Salomons, G.S.1    van Dooren, S.J.2    Verhoeven, N.M.3
  • 62
    • 0001665187 scopus 로고    scopus 로고
    • Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
    • Strømme P, Mangelsdorf ME, Shaw MA et al. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 2002.
    • (2002) Nat. Genet.
    • Strømme, P.1    Mangelsdorf, M.E.2    Shaw, M.A.3
  • 63
    • 0036020705 scopus 로고    scopus 로고
    • Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
    • Stromme P, Mangelsdorf ME, Scheffer IE, Gecz J. Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX. Brain Dev 2002: 24: 266-268.
    • (2002) Brain Dev. , vol.24 , pp. 266-268
    • Stromme, P.1    Mangelsdorf, M.E.2    Scheffer, I.E.3    Gecz, J.4
  • 64
    • 0030778071 scopus 로고    scopus 로고
    • Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-P22 2 (MRX49) Xp11 3-P11 21 (MRX50)
    • Claes S, Vogels A, Holvoet M, Devriendt K, Raeymaekerr P, Cassiman JJ et al. Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-P22 2 (MRX49) Xp11 3-P11 21 (MRX50). Am J Med Genet 1997: 73: 474-479.
    • (1997) Am. J. Med. Genet. , vol.73 , pp. 474-479
    • Claes, S.1    Vogels, A.2    Holvoet, M.3    Devriendt, K.4    Raeymaekerr, P.5    Cassiman, J.J.6
  • 65
    • 0345040725 scopus 로고    scopus 로고
    • Confirmation of linkage in X-linked infantile spasms (West syndrome) refinement disease locus to Xp21 3-Xp22 1
    • Bruyere H, Lewis MES, Wood S, MacLeod PJ, Langlois S. Confirmation of linkage in X-linked infantile spasms (West syndrome) refinement disease locus to Xp21 3-Xp22 1. Clin Genet 1999: 55: 173-181.
    • (1999) Clin. Genet. , vol.55 , pp. 173-181
    • Bruyere, H.1    Lewis, M.E.S.2    Wood, S.3    MacLeod, P.J.4    Langlois, S.5
  • 66
    • 0032898260 scopus 로고    scopus 로고
    • X linked mental retardation and infantile spasms in a family: New clinical data and linkage to Xp11.4-X p22.11
    • Stromme P, Sundet K, Mork C, Cassiman JJ, Fryns JP, Claes S. X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-X p22.11. J Med Genet 1999: 36: 374-378.
    • (1999) J. Med. Genet. , vol.36 , pp. 374-378
    • Stromme, P.1    Sundet, K.2    Mork, C.3    Cassiman, J.J.4    Fryns, J.P.5    Claes, S.6
  • 68
    • 0036838082 scopus 로고    scopus 로고
    • Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome
    • Frints SG, Froyen G, Marynen P, Willekens D, Legius E, Fryns JP. Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome. Am J Med Genet 2002: 112: 427-428.
    • (2002) Am. J. Med. Genet. , vol.112 , pp. 427-428
    • Frints, S.G.1    Froyen, G.2    Marynen, P.3    Willekens, D.4    Legius, E.5    Fryns, J.P.6
  • 69
    • 2942719071 scopus 로고    scopus 로고
    • ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism
    • Van Esch H, Poirier K, de Zegher F et al. ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism. Clin Genet 2004: 65: 503-505.
    • (2004) Clin. Genet. , vol.65 , pp. 503-505
    • Van Esch, H.1    Poirier, K.2    de Zegher, F.3
  • 70
    • 0036844387 scopus 로고    scopus 로고
    • Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
    • Kitamura KO, Yanazawa M, Sugiyama N et al. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet 2002: 32: 359-369.
    • (2002) Nat. Genet. , vol.32 , pp. 359-369
    • Kitamura, K.O.1    Yanazawa, M.2    Sugiyama, N.3
  • 71
    • 3242686104 scopus 로고    scopus 로고
    • X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting
    • Hahn A, Gross C, Uyanik G et al. X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting. Neuropediatrics 2004: 35: 202-205.
    • (2004) Neuropediatrics , vol.35 , pp. 202-205
    • Hahn, A.1    Gross, C.2    Uyanik, G.3
  • 72
    • 3242712257 scopus 로고    scopus 로고
    • Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene
    • Hartmann H, Uyanik G, Gross C et al. Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene. Neuropediatrics 2004: 35: 157-160.
    • (2004) Neuropediatrics , vol.35 , pp. 157-160
    • Hartmann, H.1    Uyanik, G.2    Gross, C.3
  • 73
    • 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 Mutat 2004: 23: 147-159.
    • (2004) Hum. Mutat. , vol.23 , pp. 147-159
    • Kato, M.1    Das, S.2    Petras, K.3
  • 74
    • 0036837658 scopus 로고    scopus 로고
    • Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation
    • Turner G, Partington M, Kerr B, Mangelsdorf M, Gecz J. Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. Am J Med Genet 2002: 112: 405-411.
    • (2002) Am. J. Med. Genet. , vol.112 , pp. 405-411
    • Turner, G.1    Partington, M.2    Kerr, B.3    Mangelsdorf, M.4    Gecz, J.5
  • 75
    • 3242704307 scopus 로고    scopus 로고
    • Three new families with X-linked mental retardation caused by the 428-451dup (24bp) mutation in ARX
    • Partington MW, Turner G, Boyle J, Gecz J. Three new families with X-linked mental retardation caused by the 428-451dup (24bp) mutation in ARX. Clin Genet 2004: 66: 39-45.
    • (2004) Clin. Genet. , vol.66 , pp. 39-45
    • Partington, M.W.1    Turner, G.2    Boyle, J.3    Gecz, J.4
  • 76
    • 0037100111 scopus 로고    scopus 로고
    • Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3
    • Kleefstra T, Yntema HG, Oudakker AR et al. Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3. Am J Med Genet 2002: 110: 410-411.
    • (2002) Am. J. Med. Genet. , vol.110 , pp. 410-411
    • Kleefstra, T.1    Yntema, H.G.2    Oudakker, A.R.3
  • 77
    • 0033066815 scopus 로고    scopus 로고
    • Four families (MRX43, MRX44, MRX45, MRX52) with non-specific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis
    • Hamel BCJ, Smits APT, van den Helm B et al. Four families (MRX43, MRX44, MRX45, MRX52) with non-specific X-linked mental retardation: clinical and psychometric data and results of linkage analysis. Am J Med Genet 1999: 85: 290-304.
    • (1999) Am. J. Med. Genet. , vol.85 , pp. 290-304
    • Hamel, B.C.J.1    Smits, A.P.T.2    van den Helm, B.3
  • 78
    • 6944226376 scopus 로고    scopus 로고
    • Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons
    • Colombo E, Galli R, Cossu G, Gecz J, Broccoli V. Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons. Dev Dyn 2004: 231: 631-639.
    • (2004) Dev. Dyn. , vol.231 , pp. 631-639
    • Colombo, E.1    Galli, R.2    Cossu, G.3    Gecz, J.4    Broccoli, V.5
  • 79
    • 0035504082 scopus 로고    scopus 로고
    • PQBP-1 (Np/PQ): A polyglutamine tract-binding and nuclear inclusion-forming protein
    • Okazawa H, Sudol M, Rich T. PQBP-1 (Np/PQ): a polyglutamine tract-binding and nuclear inclusion-forming protein. Brain Res Bull 2001: 56: 273-280.
    • (2001) Brain Res. Bull. , vol.56 , pp. 273-280
    • Okazawa, H.1    Sudol, M.2    Rich, T.3
  • 80
    • 18444403420 scopus 로고    scopus 로고
    • Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death
    • Okazawa H, Rich T, Chang A et al. Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death. Neuron 2002: 34: 701-713.
    • (2002) Neuron , vol.34 , pp. 701-713
    • Okazawa, H.1    Rich, T.2    Chang, A.3
  • 81
    • 0033007323 scopus 로고    scopus 로고
    • PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival
    • Waragai M, Lammers CH, Takeuchi S et al. PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival. Hum Mol Genet 1999: 8: 977-987.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 977-987
    • Waragai, M.1    Lammers, C.H.2    Takeuchi, S.3
  • 82
    • 0345257776 scopus 로고    scopus 로고
    • Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
    • Kalscheuer VM, Freude K, Musante L et al. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nat Genet 2003: 35: 313-115.
    • (2003) Nat. Genet. , vol.35 , pp. 115-313
    • Kalscheuer, V.M.1    Freude, K.2    Musante, L.3
  • 83
    • 12144288873 scopus 로고    scopus 로고
    • Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly
    • Lenski C, Abidi F, Meindl A et al. Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. Am J Hum Genet 2004: 74: 777-780.
    • (2004) Am. J. Hum. Genet. , vol.74 , pp. 777-780
    • Lenski, C.1    Abidi, F.2    Meindl, A.3
  • 84
    • 0023735853 scopus 로고
    • Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)
    • Sutherland GR, Gedeon AK, Haan EA, Woodroffe P, Mulley JC. Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2). Am J Med Genet 1988: 30: 493-508.
    • (1988) Am. J. Med. Genet. , vol.30 , pp. 493-508
    • Sutherland, G.R.1    Gedeon, A.K.2    Haan, E.A.3    Woodroffe, P.4    Mulley, J.C.5
  • 85
    • 4844219948 scopus 로고    scopus 로고
    • Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)
    • Kleefstra T, Franken CE, Arens YH et al. Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1). Clin Genet 2004: 66: 318-326.
    • (2004) Clin. Genet. , vol.66 , pp. 318-326
    • Kleefstra, T.1    Franken, C.E.2    Arens, Y.H.3
  • 86
    • 0028245481 scopus 로고
    • Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: A new X-linked multiple congenital anomalies/mental retardation syndrome: Clinical description and molecular studies
    • Hamel BCJ, Mariman ECM, van Beersum SEC, Schoonbrood-Lenssen AMJ, Ropers HH. Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies. Am J Med Genet 1994: 51: 591-597.
    • (1994) Am. J. Med. Genet. , vol.51 , pp. 591-597
    • Hamel, B.C.J.1    Mariman, E.C.M.2    van Beersum, S.E.C.3    Schoonbrood-Lenssen, A.M.J.4    Ropers, H.H.5
  • 89
    • 0025336965 scopus 로고
    • Unknown syndrome. A possible new-linked retardation syndrome: Dysmorphic facies, microcephaly, hypotonia, and small genitalia
    • Porteous ME, Burn J. Unknown syndrome. A possible new-linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia. J Med Genet 1990: 27: 339-340.
    • (1990) J. Med. Genet. , vol.27 , pp. 339-340
    • Porteous, M.E.1    Burn, J.2
  • 90
    • 0021357701 scopus 로고
    • A new X-linked multiple congenital anomalies/mental retardation syndrome
    • Golabi M, Ito M, Hall BD. A new X-linked multiple congenital anomalies/mental retardation syndrome. Am J Med Genet 1984: 17: 367-374.
    • (1984) Am. J. Med. Genet. , vol.17 , pp. 367-374
    • Golabi, M.1    Ito, M.2    Hall, B.D.3
  • 91
    • 0031895840 scopus 로고    scopus 로고
    • Gene for non-specific X-linked mental retardation (MRX55) is located in Xp11
    • Deqaqi SC, N'Guessan M, Forner J et al. Gene for non-specific X-linked mental retardation (MRX55) is located in Xp11. Ann Genet 1998: 41: 11-16.
    • (1998) Ann. Genet. , vol.41 , pp. 11-16
    • Deqaqi, S.C.1    N'Guessan, M.2    Forner, J.3
  • 92
    • 19944430270 scopus 로고    scopus 로고
    • Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation
    • Jensen LR, Amende M, Gurok U et al. Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation. Am J Hum Genet 2004: 76: 227-236.
    • (2004) Am. J. Hum. Genet. , vol.76 , pp. 227-236
    • Jensen, L.R.1    Amende, M.2    Gurok, U.3
  • 93
    • 0028264422 scopus 로고
    • A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human
    • Agulnik AI, Mitchell MJ, Mattei MG et al. A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human. Hum Mol Genet 1994: 3: 879-884.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 879-884
    • Agulnik, A.I.1    Mitchell, M.J.2    Mattei, M.G.3
  • 94
    • 0035150397 scopus 로고    scopus 로고
    • JmjC: Cupin metalloenzyme-like domains in jumonji, hairless and phospholipase A2beta
    • Clissold PM, Ponting CP. JmjC: cupin metalloenzyme-like domains in jumonji, hairless and phospholipase A2beta. Trends Biochem Sci 2001: 26: 7-9.
    • (2001) Trends. Biochem. Sci. , vol.26 , pp. 7-9
    • Clissold, P.M.1    Ponting, C.P.2
  • 95
    • 0345107245 scopus 로고    scopus 로고
    • Understanding the biological underpinnings of fragile X syndrome
    • Chiurazzi P, Neri G, Oostra BA. Understanding the biological underpinnings of fragile X syndrome. Curr Opin Pediatr 2003: 15: 559-566.
    • (2003) Curr. Opin. Pediatr. , vol.15 , pp. 559-566
    • Chiurazzi, P.1    Neri, G.2    Oostra, B.A.3
  • 96
    • 0037372019 scopus 로고    scopus 로고
    • Of mice and the fragile X syndrome
    • Kooy RF. of mice and the fragile X syndrome. Trends Genet 2003: 19: 148-154.
    • (2003) Trends. Genet. , vol.19 , pp. 148-154
    • Kooy, R.F.1
  • 98
    • 18344394088 scopus 로고    scopus 로고
    • Molecular Genetics of Nonspecific X-linked Mental Retardation
    • PhD Thesis. Nijmegen (webdoc.ubn.kun.nl/mono/i/ijntema_h/molegeofn.pdf)
    • Yntema HG. Molecular Genetics of Nonspecific X-linked Mental Retardation. PhD Thesis. Nijmegen (webdoc.ubn.kun.nl/mono/i/ijntema_h/molegeofn.pdf) 2001
    • (2001)
    • Yntema, H.G.1
  • 99
    • 0034706389 scopus 로고    scopus 로고
    • Rho proteins and the cellular mechanisms of mental retardation
    • Ramakers GJA. Rho proteins and the cellular mechanisms of mental retardation. Am J Med Genet 2000: 94: 367-371.
    • (2000) Am. J. Med. Genet. , vol.94 , pp. 367-371
    • Ramakers, G.J.A.1
  • 100
    • 0037423186 scopus 로고    scopus 로고
    • The methyl-CpG-binding protein MeCP2 links DNA methylation to histone methylation
    • Fuks F, Hurd PJ, Wolf D, Nan X, Bird AP, Kouzarides T. The methyl-CpG-binding protein MeCP2 links DNA methylation to histone methylation. J Biol Chem 2003: 278: 4035-4040.
    • (2003) J. Biol. Chem. , vol.278 , pp. 4035-4040
    • Fuks, F.1    Hurd, P.J.2    Wolf, D.3    Nan, X.4    Bird, A.P.5    Kouzarides, T.6
  • 101
    • 0031922879 scopus 로고    scopus 로고
    • Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein
    • Cardoso C, Timsit S, Villard L, Khrestchatisky M, Fontes M, Colleaux L. Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein. Hum Mol Genet 1998: 7: 679-684.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 679-684
    • Cardoso, C.1    Timsit, S.2    Villard, L.3    Khrestchatisky, M.4    Fontes, M.5    Colleaux, L.6
  • 102
    • 0041624239 scopus 로고    scopus 로고
    • Regulated recruitment of HP1 to a euchromatic gene induces mitotically heritable, epigenetic gene silencing: A mammalian cell culture model of gene variegation
    • Ayyanathan K, Lechner MS, Bell P et al. Regulated recruitment of HP1 to a euchromatic gene induces mitotically heritable, epigenetic gene silencing: a mammalian cell culture model of gene variegation. Genes Dev 2003: 17: 1855-1869.
    • (2003) Genes. Dev. , vol.17 , pp. 1855-1869
    • Ayyanathan, K.1    Lechner, M.S.2    Bell, P.3
  • 103
    • 0034813107 scopus 로고    scopus 로고
    • Mitogen-regulated RSK2-CBP interaction controls their kinase and acetylase activities
    • Merienne K, Pannetier S, Harel-Bellan A, Sassone-Corsi P. Mitogen-regulated RSK2-CBP interaction controls their kinase and acetylase activities. Mol Cell Biol 2001: 21: 7089-7096.
    • (2001) Mol. Cell Biol. , vol.21 , pp. 7089-7096
    • Merienne, K.1    Pannetier, S.2    Harel-Bellan, A.3    Sassone-Corsi, P.4
  • 104
    • 12144291350 scopus 로고    scopus 로고
    • X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
    • Laumonnier F, Bonnet-Brilhault F, Gomot M et al. X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet 2004: 74: 552-557.
    • (2004) Am. J. Hum. Genet. , vol.74 , pp. 552-557
    • Laumonnier, F.1    Bonnet-Brilhault, F.2    Gomot, M.3
  • 105
    • 3242696203 scopus 로고    scopus 로고
    • Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation
    • Tarpey P, Parnau J, Blow M et al. Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. Am J Hum Genet 2004: 75: 318-324.
    • (2004) Am. J. Hum. Genet. , vol.75 , pp. 318-324
    • Tarpey, P.1    Parnau, J.2    Blow, M.3
  • 106
    • 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. Nat Genet 2003: 34: 27-29.
    • (2003) Nat. Genet. , vol.34 , pp. 27-29
    • Jamain, S.1    Quach, H.2    Betancur, C.3
  • 107
    • 0028914366 scopus 로고
    • Expression patterns of two human genes coding for different rab GDP- dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transport
    • Bächner D, Sedlacek Z, Korn B, Hameister H, Poustka A. Expression patterns of two human genes coding for different rab GDP- dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transport. Hum Mol Genet 1995: 4: 701-708.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 701-708
    • Bächner, D.1    Sedlacek, Z.2    Korn, B.3    Hameister, H.4    Poustka, A.5
  • 108
    • 0025145610 scopus 로고
    • Purification and characterization from bovine brain cytosol of a protein that inhibits the dissociation of GDP from and the subsequent binding of GTP to smg p25A, a ras p21-like GTP-binding protein
    • Sasaki T, Kikuchi A, Araki S et al. Purification and characterization from bovine brain cytosol of a protein that inhibits the dissociation of GDP from and the subsequent binding of GTP to smg p25A, a ras p21-like GTP-binding protein. J Biol Chem 1990: 265: 2333-2337.
    • (1990) J. Biol. Chem. , vol.265 , pp. 2333-2337
    • Sasaki, T.1    Kikuchi, A.2    Araki, S.3
  • 109
    • 0038377518 scopus 로고    scopus 로고
    • IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis
    • Bahi N, Friocourt G, Carrie A et al. IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis. Hum Mol Genet 2003: 12: 1415-1425.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 1415-1425
    • Bahi, N.1    Friocourt, G.2    Carrie, A.3
  • 110
    • 18544386723 scopus 로고    scopus 로고
    • FACL4, encoding fatty acid-CoA ligase 4, is mutated in non-specific X-linked mental retardation
    • Meloni I, Muscoletta M, Raynaud M et al. FACL4, encoding fatty acid-CoA ligase 4, is mutated in non-specific X-linked mental retardation. Nat Genet 2002: 30: 436-440.
    • (2002) Nat. Genet. , vol.30 , pp. 436-440
    • Meloni, I.1    Muscoletta, M.2    Raynaud, M.3
  • 111
    • 3242689583 scopus 로고    scopus 로고
    • Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation
    • Freude K, Hoffmann K, Jensen LR et al. Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. Am J Hum Genet 2004: 75: 305-309.
    • (2004) Am. J. Hum. Genet. , vol.75 , pp. 305-309
    • Freude, K.1    Hoffmann, K.2    Jensen, L.R.3
  • 112
    • 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: 669-680.
    • (2001) Nat. Rev. Genet. , vol.2 , pp. 669-680
    • Chelly, J.1    Mandel, J.L.2
  • 113
    • 4544239294 scopus 로고    scopus 로고
    • Comparative frequency of fragile-X (FMR1) and creative transporter (SLC6A8) mutations in X-linked mental retardation
    • Mandel JL. Comparative frequency of fragile-X (FMR1) and creative transporter (SLC6A8) mutations in X-linked mental retardation. Am J Hum Genet 2004: 75: 730-731.
    • (2004) Am. J. Hum. Genet. , vol.75 , pp. 730-731
    • Mandel, J.L.1
  • 114
    • 0035577350 scopus 로고    scopus 로고
    • A high density of X-linked genes for general cognitive ability: A run-away process shaping human evolution?
    • Zechner U, Wilda M, Kehrer-Sawatzki H, Vogel W, Fundele R, Hameister H. A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution? Trends Genet 2001: 17: 697-701.
    • (2001) Trends. Genet. , vol.17 , pp. 697-701
    • Zechner, U.1    Wilda, M.2    Kehrer-Sawatzki, H.3    Vogel, W.4    Fundele, R.5    Hameister, H.6
  • 115
    • 0029786254 scopus 로고    scopus 로고
    • Intelligence and the X chromosome
    • Turner G. Intelligence and the X chromosome. Lancet 1996: 347: 1814-1815.
    • (1996) Lancet , vol.347 , pp. 1814-1815
    • Turner, G.1
  • 116
    • 0032999012 scopus 로고    scopus 로고
    • The other side of the coin. A hypothesis concerning the importance of genes for high intelligence and evolution of the X chromosome
    • Lubs HA. The other side of the coin. a hypothesis concerning the importance of genes for high intelligence and evolution of the X chromosome. Am J Med Genet 1999: 85: 206-208.
    • (1999) Am. J. Med. Genet. , vol.85 , pp. 206-208
    • Lubs, H.A.1
  • 117
    • 0019654133 scopus 로고
    • Fragile X-linked mental retardation: The Martin-Bell syndrome
    • Richards BW, Sylvester PE, Brooker C. Fragile X-linked mental retardation: the Martin-Bell syndrome. J Ment Defic Res 1981: 25 Pt 4: 253-256.
    • (1981) J. Ment. Defic. Res. , vol.25 , Issue.PART 4 , pp. 253-256
    • Richards, B.W.1    Sylvester, P.E.2    Brooker, C.3
  • 118
    • 0029653613 scopus 로고
    • Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence
    • Adams MD, Kerlavage AR, Fleischmann RD et al. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. Nature 1995: 377 (Suppl.): 3-17.
    • (1995) Nature , vol.377 , Issue.SUPPL. , pp. 3-17
    • Adams, M.D.1    Kerlavage, A.R.2    Fleischmann, R.D.3
  • 119
  • 120
    • 0036302105 scopus 로고    scopus 로고
    • Identification of microcephalin, a protein implicated in determining the size of the human brain
    • Jackson AP, Eastwood H, Bell SM et al. Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet 2002: 71: 136-142.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 136-142
    • Jackson, A.P.1    Eastwood, H.2    Bell, S.M.3
  • 121
    • 18744371004 scopus 로고    scopus 로고
    • Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation
    • Molinari F, Rio M, Meskenaite V et al. Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. Science 2002: 298: 1779-1781.
    • (2002) Science , vol.298 , pp. 1779-1781
    • Molinari, F.1    Rio, M.2    Meskenaite, V.3
  • 122
    • 2942717198 scopus 로고    scopus 로고
    • Candidate genes for recessive non-syndromic mental retardation on chromosome 3p (MRT2A)
    • Higgins JJ, Pucilowska J, Lombardi RQ, Rooney JP. Candidate genes for recessive non-syndromic mental retardation on chromosome 3p (MRT2A). Clin Genet 2004: 65: 496-500.
    • (2004) Clin. Genet. , vol.65 , pp. 496-500
    • Higgins, J.J.1    Pucilowska, J.2    Lombardi, R.Q.3    Rooney, J.P.4
  • 123
    • 0142209188 scopus 로고    scopus 로고
    • Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: Further genetic heterogeneity
    • Basel-Vanagaite L, Alkelai A, Straussberg R et al. Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity. J Med Genet 2003: 40: 729-732.
    • (2003) J. Med. Genet. , vol.40 , pp. 729-732
    • Basel-Vanagaite, L.1    Alkelai, A.2    Straussberg, R.3
  • 124
    • 19944399746 scopus 로고    scopus 로고
    • Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)
    • Koolen DA, Nillesen WM, Versteeg MH et al. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). J Med Genet 2004: 41: 892-899.
    • (2004) J. Med. Genet. , vol.41 , pp. 892-899
    • Koolen, D.A.1    Nillesen, W.M.2    Versteeg, M.H.3
  • 125
    • 9144240478 scopus 로고    scopus 로고
    • Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities
    • Vissers LE, de Vries BB, Osoegawa K et al. Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities. Am J Hum Genet 2003: 73: 1261-1270.
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 1261-1270
    • Vissers, L.E.1    de Vries, B.B.2    Osoegawa, K.3
  • 126
    • 4444239112 scopus 로고    scopus 로고
    • Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
    • Vissers LE, van Ravenswaaij CM, Admiraal R et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 2004: 36: 955-957.
    • (2004) Nat. Genet. , vol.36 , pp. 955-957
    • Vissers, L.E.1    van Ravenswaaij, C.M.2    Admiraal, R.3
  • 127
    • 8444228597 scopus 로고    scopus 로고
    • Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome
    • Bi W, Saifi GM, Shaw C et al. Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. Hum Genet 2004: 115: 515-524.
    • (2004) Hum. Genet. , vol.115 , pp. 515-524
    • Bi, W.1    Saifi, G.M.2    Shaw, C.3
  • 128
    • 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: 348-351.
    • (1995) Nature , vol.376 , pp. 348-351
    • Petrij, F.1    Giles, R.H.2    Dauwerse, H.G.3
  • 129
    • 0031031570 scopus 로고    scopus 로고
    • De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
    • Matsuura T, Sutcliffe JS, Fang P et al. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 1997: 15: 74-77.
    • (1997) Nat. Genet. , vol.15 , pp. 74-77
    • Matsuura, T.1    Sutcliffe, J.S.2    Fang, P.3
  • 130
    • 20244368362 scopus 로고    scopus 로고
    • Disruption of the gene Euchromatin Histone Methyl Transferase 1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome
    • in press
    • Kleefstra T, Smidt M, Banning JG et al. Disruption of the gene Euchromatin Histone Methyl Transferase 1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. J Med Genet 2005: in press.
    • (2005) J. Med. Genet.
    • Kleefstra, T.1    Smidt, M.2    Banning, J.G.3
  • 131
    • 0034927366 scopus 로고    scopus 로고
    • Disruption of the ProSAP2 gene in a (12; 22)(q24.1; q13.3) is associated with the 22q13.3 deletion syndrome
    • Bonaglia MC, Giorda R, Borgatti R et al. Disruption of the ProSAP2 gene in a (12; 22)(q24.1; q13.3) is associated with the 22q13.3 deletion syndrome. Am J Hum Genet 2001: 69: 261-268.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 261-268
    • Bonaglia, M.C.1    Giorda, R.2    Borgatti, R.3
  • 132
    • 2442641704 scopus 로고    scopus 로고
    • Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome
    • Fernandez T, Morgan T, Davis N et al. Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome. Am J Hum Genet 2004: 74: 1286-1293.
    • (2004) Am. J. Hum. Genet. , vol.74 , pp. 1286-1293
    • Fernandez, T.1    Morgan, T.2    Davis, N.3
  • 133
    • 10744233700 scopus 로고    scopus 로고
    • CALL interrupted in a patient with non-specific mental retardation: Gene dosage-dependent alteration of murine brain development and behavior
    • Frints SG, Marynen P, Hartmann D et al. CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior. Hum Mol Genet 2003: 12: 1463-1474.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 1463-1474
    • Frints, S.G.1    Marynen, P.2    Hartmann, D.3
  • 134
    • 7044264629 scopus 로고    scopus 로고
    • DNA sequencing industry sets its sights on the future
    • Winnick E. DNA sequencing industry sets its sights on the future. The Scientist 2004: 18: 44-47.
    • (2004) The Scientist , vol.18 , pp. 44-47
    • Winnick, E.1
  • 135
    • 0141940258 scopus 로고    scopus 로고
    • Advanced computational techniques for re-sequencing DNA with polymerase signaling assay arrays
    • Pe'er I, Arbili N, Liu Y, Enck C, Gelfand CA, Shamir R. Advanced computational techniques for re-sequencing DNA with polymerase signaling assay arrays. Nucleic Acids Res 2003: 31: 5667-5675.
    • (2003) Nucleic. Acids. Res. , vol.31 , pp. 5667-5675
    • Pe'er, I.1    Arbili, N.2    Liu, Y.3    Enck, C.4    Gelfand, C.A.5    Shamir, R.6


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