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Volumn 42, Issue SUPPL.1, 2006, Pages

Autosomal dominant mental retardation;Retraso mental autosómico dominante

Author keywords

Mental retardation; Neurofibromatosis 1; Steinert's myotonic dystrophy; Tuberous sclerosis

Indexed keywords

MYOTONIC DYSTROPHY PROTEIN KINASE; TUBERIN;

EID: 34548771747     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (3)

References (48)
  • 1
    • 0030862260 scopus 로고    scopus 로고
    • Curry CJ, Estevenson RE, Aughton D, Byrne J, Carey JC, Cassidy S, et al. Evaluation of mental retardation: recommendations of a consensus conference. Am J Med Genet 1997; 72: 468-77.
    • Curry CJ, Estevenson RE, Aughton D, Byrne J, Carey JC, Cassidy S, et al. Evaluation of mental retardation: recommendations of a consensus conference. Am J Med Genet 1997; 72: 468-77.
  • 2
    • 12744278217 scopus 로고    scopus 로고
    • Diagnostic investigation in individuals with mental retardation: A systematic literature review of their usefulness
    • Van Karnebeek CDM, Jansweijer MCE, Leenders AGE, Offringa M, Hennekam R. Diagnostic investigation 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
    • Van Karnebeek, C.D.M.1    Jansweijer, M.C.E.2    Leenders, A.G.E.3    Offringa, M.4    Hennekam, R.5
  • 3
    • 21844477619 scopus 로고    scopus 로고
    • Genetic causes of mental retardation
    • Rehder H, Fritz B. Genetic causes of mental retardation. Wien Med Wochenschr 2005; 155: 248-67.
    • (2005) Wien Med Wochenschr , vol.155 , pp. 248-267
    • Rehder, H.1    Fritz, B.2
  • 4
    • 0037370826 scopus 로고    scopus 로고
    • Learning, memory, and transcription factors
    • Johnston MV, Alemi L, Harum KH. Learning, memory, and transcription factors. Pediatrics Res 2003; 53: 369-74.
    • (2003) Pediatrics Res , vol.53 , pp. 369-374
    • Johnston, M.V.1    Alemi, L.2    Harum, K.H.3
  • 7
    • 0033605451 scopus 로고    scopus 로고
    • Cognitive impairment in neurofibromatosis type 1
    • Ozonoff S. Cognitive impairment in neurofibromatosis type 1. Am J Med Genet 1999; 89: 45-52.
    • (1999) Am J Med Genet , vol.89 , pp. 45-52
    • Ozonoff, S.1
  • 8
    • 0024456038 scopus 로고
    • A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity
    • Huson SM, Compston DA, Clark P, Harper PS. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet 1989; 26: 704-11.
    • (1989) J Med Genet , vol.26 , pp. 704-711
    • Huson, S.M.1    Compston, D.A.2    Clark, P.3    Harper, P.S.4
  • 10
    • 0024205878 scopus 로고
    • Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales
    • Huson SM, Harper PS, Compston DA. Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales. Brain 1988; 111: 1355-81.
    • (1988) Brain , vol.111 , pp. 1355-1381
    • Huson, S.M.1    Harper, P.S.2    Compston, D.A.3
  • 12
    • 0027096707 scopus 로고
    • Nosological considerations of the neurofibromatoses
    • Viskochil D, Carey JC. Nosological considerations of the neurofibromatoses. J Dermatol 1992; 19: 873-80.
    • (1992) J Dermatol , vol.19 , pp. 873-880
    • Viskochil, D.1    Carey, J.C.2
  • 13
    • 0029890041 scopus 로고    scopus 로고
    • Neuropsychological significance of areas of high signal intensity on brain MRIs of children with neurofibromatosis
    • Moore BD, Slopis JM, Schomer D, Jackson EF, Levy BM. Neuropsychological significance of areas of high signal intensity on brain MRIs of children with neurofibromatosis. Neurology 1996; 46: 1660-8.
    • (1996) Neurology , vol.46 , pp. 1660-1668
    • Moore, B.D.1    Slopis, J.M.2    Schomer, D.3    Jackson, E.F.4    Levy, B.M.5
  • 14
    • 0022924137 scopus 로고
    • Neurofibromatosis. A genetic epidemiologist's point of view
    • Mulvihill JJ. Neurofibromatosis. A genetic epidemiologist's point of view. Ann N Y Acad Sci 1986; 486: 38-44.
    • (1986) Ann N Y Acad Sci , vol.486 , pp. 38-44
    • Mulvihill, J.J.1
  • 15
    • 0025326726 scopus 로고
    • A major segment of the neurofibromatosis type 1 gene: CDNA sequence, genomic structure, and point mutations
    • Cawthon RM, Weiss R, Xu GF, Viskochil D, Culver M, Stevens J, et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 1990; 62: 193-201.
    • (1990) Cell , vol.62 , pp. 193-201
    • Cawthon, R.M.1    Weiss, R.2    Xu, G.F.3    Viskochil, D.4    Culver, M.5    Stevens, J.6
  • 16
    • 0025369709 scopus 로고
    • Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus
    • Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 1990; 62: 187-92.
    • (1990) Cell , vol.62 , pp. 187-192
    • Viskochil, D.1    Buchberg, A.M.2    Xu, G.3    Cawthon, R.M.4    Stevens, J.5    Wolff, R.K.6
  • 19
    • 0026570008 scopus 로고
    • Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes
    • Stephens K, Kayes L, Riccardi VM, Rising M, Sybert VP, Pagon RA. Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes. Hum Genet 1992; 88: 279-82.
    • (1992) Hum Genet , vol.88 , pp. 279-282
    • Stephens, K.1    Kayes, L.2    Riccardi, V.M.3    Rising, M.4    Sybert, V.P.5    Pagon, R.A.6
  • 20
    • 0029969028 scopus 로고    scopus 로고
    • Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients
    • Lázaro C, Gaona A, Ainsworth P, Tenconi R, Vidaud D, Kruyer H, et al. Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients. Hum Genet 1996; 98: 696-9.
    • (1996) Hum Genet , vol.98 , pp. 696-699
    • Lázaro, C.1    Gaona, A.2    Ainsworth, P.3    Tenconi, R.4    Vidaud, D.5    Kruyer, H.6
  • 21
    • 0031744843 scopus 로고    scopus 로고
    • Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dismorphic features and developmental delay
    • Upadhyaya M, Ruggieri M, Maynard J, Osborn M, Hartog C, Mudd S, et al. Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dismorphic features and developmental delay. Hum Genet 1998; 102: 591-7.
    • (1998) Hum Genet , vol.102 , pp. 591-597
    • Upadhyaya, M.1    Ruggieri, M.2    Maynard, J.3    Osborn, M.4    Hartog, C.5    Mudd, S.6
  • 22
    • 0029078029 scopus 로고    scopus 로고
    • Biological Basis of germline mutation: Comparisons of spontaneous germline mutation rates among Drosophila, mouse and human
    • Drost JB, Lee WR. Biological Basis of germline mutation: comparisons of spontaneous germline mutation rates among Drosophila, mouse and human. Environ Mol Mutagen 2000; 25 (Suppl 26): 48-64.
    • (2000) Environ Mol Mutagen , vol.25 , Issue.SUPPL. 26 , pp. 48-64
    • Drost, J.B.1    Lee, W.R.2
  • 23
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996; 380: 152-254.
    • (1996) Nature , vol.380 , pp. 152-254
    • Dib, C.1    Faure, S.2    Fizames, C.3    Samson, D.4    Drouot, N.5    Vignal, A.6
  • 25
    • 0027395503 scopus 로고
    • A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activation protein activity
    • Andersen LB, Ballester R, Marchuk DA, Chang E, Gutmann DH, Saulino AM, et al. A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activation protein activity. Mol Cell Biol 1993; 13: 487-95.
    • (1993) Mol Cell Biol , vol.13 , pp. 487-495
    • Andersen, L.B.1    Ballester, R.2    Marchuk, D.A.3    Chang, E.4    Gutmann, D.H.5    Saulino, A.M.6
  • 26
    • 0036700964 scopus 로고    scopus 로고
    • Molecular and cellular mechanisms underlying the cognitive deficits associated with neurofibromatosis 1
    • Costa RM, Silva AJ. Molecular and cellular mechanisms underlying the cognitive deficits associated with neurofibromatosis 1. J Child Neurol 2002; 17: 622-6.
    • (2002) J Child Neurol , vol.17 , pp. 622-626
    • Costa, R.M.1    Silva, A.J.2
  • 27
    • 0037526871 scopus 로고    scopus 로고
    • TSC1 and TSC2: Genes that are mutated in the human genetic disorder tuberous sclerosis
    • Sampson JR. TSC1 and TSC2: genes that are mutated in the human genetic disorder tuberous sclerosis. Bioch Soc Transac 2003; 31: 592-6.
    • (2003) Bioch Soc Transac , vol.31 , pp. 592-596
    • Sampson, J.R.1
  • 28
    • 0027326851 scopus 로고
    • Renal cystic disease in tuberous sclerosis complex
    • Bernstein J. Renal cystic disease in tuberous sclerosis complex. Pediatr Nephrol 1993; 7: 490-5.
    • (1993) Pediatr Nephrol , vol.7 , pp. 490-495
    • Bernstein, J.1
  • 29
    • 0035881026 scopus 로고    scopus 로고
    • Prevalence and clinical characteristics of lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex
    • Moss J, Ávila NA, Barnes PM, Litzenberger RA, Betchle J, Brooks PG, et al. Prevalence and clinical characteristics of lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex. Am J Respir Crit Care Med 2001; 163: 669-71.
    • (2001) Am J Respir Crit Care Med , vol.163 , pp. 669-671
    • Moss, J.1    Ávila, N.A.2    Barnes, P.M.3    Litzenberger, R.A.4    Betchle, J.5    Brooks, P.G.6
  • 31
    • 0026922021 scopus 로고
    • Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease
    • Kandt RS, Haines JL, Smith M, Northrup H, Gardner RJM, Short MP, et al. Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nat Genet 1992; 2: 37-41.
    • (1992) Nat Genet , vol.2 , pp. 37-41
    • Kandt, R.S.1    Haines, J.L.2    Smith, M.3    Northrup, H.4    Gardner, R.J.M.5    Short, M.P.6
  • 34
    • 0032726851 scopus 로고    scopus 로고
    • Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis
    • Niida Y, Lawrence-Smith M, Banwell A, Hammer E, Lewis J, Beauchamp R, et al. Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. Hum Mutat 1999; 14: 412-22.
    • (1999) Hum Mutat , vol.14 , pp. 412-422
    • Niida, Y.1    Lawrence-Smith, M.2    Banwell, A.3    Hammer, E.4    Lewis, J.5    Beauchamp, R.6
  • 37
    • 9044220611 scopus 로고    scopus 로고
    • Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal regions in tuberous sclerosis hamartomas
    • Carbonara C, Longa L, Grosso E, Mazzucco G, Borrone C, Garre ML, et al. Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal regions in tuberous sclerosis hamartomas. Genes Chromosom Cancer 1996; 15: 18-25.
    • (1996) Genes Chromosom Cancer , vol.15 , pp. 18-25
    • Carbonara, C.1    Longa, L.2    Grosso, E.3    Mazzucco, G.4    Borrone, C.5    Garre, M.L.6
  • 40
    • 0033653152 scopus 로고    scopus 로고
    • Clinical and genetic heterogeneity in myotonic dystrophies
    • Meola G. Clinical and genetic heterogeneity in myotonic dystrophies. Muscle Nerve 2000; 23: 89-1799.
    • (2000) Muscle Nerve , vol.23 , pp. 89-1799
    • Meola, G.1
  • 41
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of trinucleotide (CTG) repeat at the 3′ end of a transcription encoding a protein kinase family member
    • Brook JD, McCurrach ME, Harley HG, Buckber AJ, Church D, Aburatani H, et al. Molecular basis of myotonic dystrophy: expansion of trinucleotide (CTG) repeat at the 3′ end of a transcription encoding a protein kinase family member. Cell 1992; 68: 799-808.
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    McCurrach, M.E.2    Harley, H.G.3    Buckber, A.J.4    Church, D.5    Aburatani, H.6
  • 42
    • 0027485748 scopus 로고
    • Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy
    • Harley HG, Rundle SA, MacMillan JC, Myring J, Brook JD, Crow S, et al. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet 1993; 52: 1164-74.
    • (1993) Am J Hum Genet , vol.52 , pp. 1164-1174
    • Harley, H.G.1    Rundle, S.A.2    MacMillan, J.C.3    Myring, J.4    Brook, J.D.5    Crow, S.6
  • 43
    • 0032910562 scopus 로고    scopus 로고
    • Myotonic dystrophy: The correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions
    • Hamshere MG, Harley H, Harper P, Brook JD, Brookfield JF. Myotonic dystrophy: the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions. J Med Genet 1999; 36: 59-61.
    • (1999) J Med Genet , vol.36 , pp. 59-61
    • Hamshere, M.G.1    Harley, H.2    Harper, P.3    Brook, J.D.4    Brookfield, J.F.5
  • 44
    • 0028873248 scopus 로고
    • Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic distrophy males: Small pool PCR
    • Monckton DG, Wong LJ, Ashizawa T, Caskey CT. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic distrophy males: small pool PCR. Hum Mol Genet 1995; 4: 1-8.
    • (1995) Hum Mol Genet , vol.4 , pp. 1-8
    • Monckton, D.G.1    Wong, L.J.2    Ashizawa, T.3    Caskey, C.T.4
  • 46
    • 0027716510 scopus 로고
    • Somatic instability of CTG repeat in myotonic dystrophy
    • Ashizawa T, Dubel JR, Harati Y. Somatic instability of CTG repeat in myotonic dystrophy. Neurology 1993; 43: 2674-8.
    • (1993) Neurology , vol.43 , pp. 2674-2678
    • Ashizawa, T.1    Dubel, J.R.2    Harati, Y.3
  • 47
    • 0033595470 scopus 로고    scopus 로고
    • Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic myopathy
    • Meola G, Sansone V, Perani D, Colleluori A, Cappa S, Cotelli M, et al. Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic myopathy. Neurology 1999; 53: 1042-50.
    • (1999) Neurology , vol.53 , pp. 1042-1050
    • Meola, G.1    Sansone, V.2    Perani, D.3    Colleluori, A.4    Cappa, S.5    Cotelli, M.6
  • 48
    • 0032211409 scopus 로고    scopus 로고
    • Expanding complexity in myotonic dystrophy
    • Groenen P, Wieringa B. Expanding complexity in myotonic dystrophy. Bioessays 1998; 20: 901-12.
    • (1998) Bioessays , vol.20 , pp. 901-912
    • Groenen, P.1    Wieringa, B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.