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Volumn 7, Issue 3, 2005, Pages 181-192

Chromosomal disorders associated with epilepsy

Author keywords

Chromosomal disorders; Epilepsy; Malformation syndromes; Seizures

Indexed keywords

BENZODIAZEPINE DERIVATIVE; CARBAMAZEPINE; CLOBAZAM VALPROIC ACID; CORTICOTROPIN; STEROID; UNCLASSIFIED DRUG; VALPROIC ACID DERIVATIVE; VIGABATRIN;

EID: 25844523375     PISSN: 12949361     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (40)

References (154)
  • 1
    • 0032851042 scopus 로고    scopus 로고
    • Emotion-induced myoclonic absence-like seizures in a patient with inv-dup(15) syndrome: A clinical, EEG, and molecular genetic study
    • Aguglia U, Le Piane E, Gambardella A, et al. Emotion-induced myoclonic absence-like seizures in a patient with inv-dup(15) syndrome: a clinical, EEG, and molecular genetic study. Epilepsia 1999; 40: 1316-9.
    • (1999) Epilepsia , vol.40 , pp. 1316-1319
    • Aguglia, U.1    Le Piane, E.2    Gambardella, A.3
  • 3
    • 84995191751 scopus 로고
    • "Puppet" children: A report on three cases
    • Angelman H. "Puppet" children: a report on three cases. Dev Med Child Neurol 1965; 7: 681-3.
    • (1965) Dev Med Child Neurol , vol.7 , pp. 681-683
    • Angelman, H.1
  • 5
    • 0343131270 scopus 로고    scopus 로고
    • Storia naturale della sindrome di Wolf-Hirschhorn: Esperienza con 15 casi
    • edizione italiana-Milano
    • Battaglia A, Carey JC, Cederholm P, Viskochil DH, Brothman AR, Galasso C. Storia naturale della sindrome di Wolf-Hirschhorn: esperienza con 15 casi. Pediatrics 1999b; 11: 236-42; (edizione italiana-Milano).
    • (1999) Pediatrics , vol.11 , pp. 236-242
    • Battaglia, A.1    Carey, J.C.2    Cederholm, P.3    Viskochil, D.H.4    Brothman, A.R.5    Galasso, C.6
  • 8
    • 0033603083 scopus 로고    scopus 로고
    • Health supervision and anticipatory guidance of individuals with Wolf-Hirschhorn syndrome
    • Semin Med Genet
    • Battaglia A, Carey JC. Health supervision and anticipatory guidance of individuals with Wolf-Hirschhorn syndrome. Am J Med Genet 1999; 89: 111-5; (Semin Med Genet).
    • (1999) Am J Med Genet , vol.89 , pp. 111-115
    • Battaglia, A.1    Carey, J.C.2
  • 10
    • 22244457681 scopus 로고    scopus 로고
    • Seizure and EEC patterns in Wolf-Hirschhorn (4p-) syndrome
    • Battaglia A, Carey JC. Seizure and EEC patterns in Wolf-Hirschhorn (4p-) syndrome. Brain Dev 2005; 27: 362-4.
    • (2005) Brain Dev , vol.27 , pp. 362-364
    • Battaglia, A.1    Carey, J.C.2
  • 11
    • 0013093868 scopus 로고    scopus 로고
    • Update on the clinical features and natural history of Wolf-Hirschhorn syndrome (WHS): Experience with 48 cases
    • Battaglia A, Carey JC. Update on the clinical features and natural history of Wolf-Hirschhorn syndrome (WHS): experience with 48 cases. Am J Hum Genet 2000; 6: 127.
    • (2000) Am J Hum Genet , vol.6 , pp. 127
    • Battaglia, A.1    Carey, J.C.2
  • 12
    • 0030902026 scopus 로고    scopus 로고
    • The inv dup(15) syndrome: A clinically recognizable syndrome with altered behaviour, mental retardation and epilepsy
    • Battaglia A, Gurrieri F, Bertini E, et al. The inv dup(15) syndrome: a clinically recognizable syndrome with altered behaviour, mental retardation and epilepsy. Neurology 1997; 48: 1081-6.
    • (1997) Neurology , vol.48 , pp. 1081-1086
    • Battaglia, A.1    Gurrieri, F.2    Bertini, E.3
  • 13
    • 0032947729 scopus 로고    scopus 로고
    • Case of apparent Gurrieri syndrome showing molecular findings of Angelman syndrome
    • Battaglia A, Gurrieri F. Case of apparent Gurrieri syndrome showing molecular findings of Angelman syndrome. Am J Med Genet 1999; 82: 100.
    • (1999) Am J Med Genet , vol.82 , pp. 100
    • Battaglia, A.1    Gurrieri, F.2
  • 14
    • 22244434476 scopus 로고    scopus 로고
    • 1p deletion syndrome: Further clinical characterisation of a common, important and often missed cause of developmental delay/mental retardation
    • Battaglia A, Viskochil DH, Lewin SO, et al. 1p deletion syndrome: further clinical characterisation of a common, important and often missed cause of developmental delay/mental retardation. Proceed Greenwood Genet Ctr 2004; 23: 140-1.
    • (2004) Proceed Greenwood Genet Ctr , vol.23 , pp. 140-141
    • Battaglia, A.1    Viskochil, D.H.2    Lewin, S.O.3
  • 15
    • 22244471387 scopus 로고    scopus 로고
    • Del 1p36 syndrome: A newly emerging clinical entity
    • Battaglia A. Del 1p36 syndrome: a newly emerging clinical entity. Brain Dev 2005a; 27: 358-61.
    • (2005) Brain Dev , vol.27 , pp. 358-361
    • Battaglia, A.1
  • 16
    • 0008954428 scopus 로고    scopus 로고
    • Sindrome di Wolf-Hirschhorn (4p-): Una causa di ritardo mentale grave di difficile diagnosi
    • I]P
    • Battaglia A. Sindrome di Wolf-Hirschhorn (4p-): una causa di ritardo mentale grave di difficile diagnosi. Riv Ital Pediatr 1997; 23: 254-9; (I]P).
    • (1997) Riv Ital Pediatr , vol.23 , pp. 254-259
    • Battaglia, A.1
  • 17
    • 25844465504 scopus 로고    scopus 로고
    • Wolf-Hirschhorn (4p-) syndrome
    • Cassidy SB, Allanson JE, eds. Hoboken: John Wiley & Sons Inc
    • Battaglia A. Wolf-Hirschhorn (4p-) syndrome. In: Cassidy SB, Allanson JE, eds. Management of Genetic Syndromes. Hoboken: John Wiley & Sons Inc, 2005b: 667-76.
    • (2005) Management of Genetic Syndromes , pp. 667-676
    • Battaglia, A.1
  • 18
    • 22244476747 scopus 로고    scopus 로고
    • The inv dup(15) or idic(15) syndrome: A clinically recognisable neurogenetic disorder
    • Battaglia A. The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder. Brain Dev 2005c; 27: 365-9.
    • (2005) Brain Dev , vol.27 , pp. 365-369
    • Battaglia, A.1
  • 20
    • 0027476712 scopus 로고
    • Constitutional 1p36 deletion in a child with neuroblastoma
    • Biegel JA, White PS, Marshall HN. Constitutional 1p36 deletion in a child with neuroblastoma. Am J Hum Genet 1993; 52: 176-82.
    • (1993) Am J Hum Genet , vol.52 , pp. 176-182
    • Biegel, J.A.1    White, P.S.2    Marshall, H.N.3
  • 21
    • 17344384230 scopus 로고    scopus 로고
    • Chromosome 20 en anneau et épilepsie: Diversité des crises étudiées en vidéo-EEC. Un mécanisme sous-cortical d'épileptogénèse est-il au premier plan?
    • Biraben A, Odent S, Lucas J, et al. Chromosome 20 en anneau et épilepsie: diversité des crises étudiées en vidéo-EEC. Un mécanisme sous-cortical d'épileptogé nèse est-il au premier plan? Epilepsies 2001; 13: 9-15.
    • (2001) Epilepsies , vol.13 , pp. 9-15
    • Biraben, A.1    Odent, S.2    Lucas, J.3
  • 22
    • 0029817911 scopus 로고    scopus 로고
    • Monosomy 1p36.31-33→pter due to a paternal reciprocal translocation: Prognostic significance of FISH analysis
    • Blennow E, Bui TH, Wallin A, Kogner P. Monosomy 1p36.31-33→pter due to a paternal reciprocal translocation: prognostic significance of FISH analysis. Am J Med Genet 1996; 65: 60-7.
    • (1996) Am J Med Genet , vol.65 , pp. 60-67
    • Blennow, E.1    Bui, T.H.2    Wallin, A.3    Kogner, P.4
  • 23
    • 0028947788 scopus 로고
    • Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization
    • Blennow E, Nielsen KB, Telenius H, et al. Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization. Am J Med Genet 1995; 55: 85-94.
    • (1995) Am J Med Genet , vol.55 , pp. 85-94
    • Blennow, E.1    Nielsen, K.B.2    Telenius, H.3
  • 24
    • 0018122333 scopus 로고
    • Klinefelter's syndrome and neurological disease
    • Bolthauser E, Meyer M, Deonna T. Klinefelter's syndrome and neurological disease. J Neurol 1978; 219: 253-9.
    • (1978) J Neurol , vol.219 , pp. 253-259
    • Bolthauser, E.1    Meyer, M.2    Deonna, T.3
  • 25
    • 0035057465 scopus 로고    scopus 로고
    • Relationship between clinical and genetic features in 'inverted duplicated chromosome 15' patients
    • Borgatti R, Piccinelli P, Passoni D, et al. Relationship between clinical and genetic features in 'inverted duplicated chromosome 15' patients. Pediatr Neurol 2001; 24: 111-6.
    • (2001) Pediatr Neurol , vol.24 , pp. 111-116
    • Borgatti, R.1    Piccinelli, P.2    Passoni, D.3
  • 27
    • 0023925498 scopus 로고
    • The EEC in early diagnosis of the Angelman (happy puppet) syndrome
    • Boyd SG, Harden A, Patton MA. The EEC in early diagnosis of the Angelman (happy puppet) syndrome. Eur J Pediatr 1988; 147: 508-13.
    • (1988) Eur J Pediatr , vol.147 , pp. 508-513
    • Boyd, S.G.1    Harden, A.2    Patton, M.A.3
  • 29
    • 0006006216 scopus 로고    scopus 로고
    • The molecular biology of the fragile X mutation
    • Hagerman RJ, Hagerman PJ, eds. Baltimore: Johns Hopkins University Press
    • Brown WT. The molecular biology of the fragile X mutation. In: Hagerman RJ, Hagerman PJ, eds. 3rd ed. Fragile X syndrome: Diagnosis, treatment and research. Baltimore: Johns Hopkins University Press, 2002: 110-35.
    • (2002) 3rd Ed. Fragile X Syndrome: Diagnosis, Treatment and Research , pp. 110-135
    • Brown, W.T.1
  • 30
    • 0024760639 scopus 로고
    • Chromosomal localization of GABA(A) receptor beta-a-3-subunit gene
    • Buckle VJ, Fujita N, Ryder-Cook AS, et al. Chromosomal localization of GABA(A) receptor beta-a-3-subunit gene. Neuron 1989; 3: 647-54.
    • (1989) Neuron , vol.3 , pp. 647-654
    • Buckle, V.J.1    Fujita, N.2    Ryder-Cook, A.S.3
  • 32
    • 0031684193 scopus 로고    scopus 로고
    • Chromosome 20 ring: A chromosomal disorder associated with a particular electroclinical pattern
    • Canevini MP, et al. Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern. Epilepsia 1998; 39: 942-51.
    • (1998) Epilepsia , vol.39 , pp. 942-951
    • Canevini, M.P.1
  • 34
    • 0027994534 scopus 로고
    • Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients
    • Cheng SD, Spinner NB, Zackai EH, Knoll JH. Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. Am J Hum Genet 1994; 55: 753-9.
    • (1994) Am J Hum Genet , vol.55 , pp. 753-759
    • Cheng, S.D.1    Spinner, N.B.2    Zackai, E.H.3    Knoll, J.H.4
  • 35
    • 0036711714 scopus 로고    scopus 로고
    • Mild generalized epilepsy and developmental disorder associated with large inv dup(15)
    • Chifari R, Guerrini R, Pierluigi M, et al. Mild generalized epilepsy and developmental disorder associated with large inv dup(15). Epilepsia 2002; 43: 1096-100.
    • (2002) Epilepsia , vol.43 , pp. 1096-1100
    • Chifari, R.1    Guerrini, R.2    Pierluigi, M.3
  • 36
    • 0008036914 scopus 로고
    • Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion
    • Cooper H, Hirschhorn K. Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion. Mammalian Chrom Nwsl 1961; 4: 14.
    • (1961) Mammalian Chrom Nwsl , vol.4 , pp. 14
    • Cooper, H.1    Hirschhorn, K.2
  • 38
    • 0027432982 scopus 로고
    • Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome
    • Dallapiccola B, Mandich P, Bellone E, et al. Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. Am J Med Genet 1993; 47: 921-4.
    • (1993) Am J Med Genet , vol.47 , pp. 921-924
    • Dallapiccola, B.1    Mandich, P.2    Bellone, E.3
  • 40
    • 0037084852 scopus 로고    scopus 로고
    • Premutation and intermediate-size FMR1 alleles in 10,572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles
    • Dombrowski C, Levesque ML, Morel ML, Roulliard P, Morgan K, Rousseau F. Premutation and intermediate-size FMR1 alleles in 10,572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum Mol Genet 2002; 11: 371-8.
    • (2002) Hum Mol Genet , vol.11 , pp. 371-378
    • Dombrowski, C.1    Levesque, M.L.2    Morel, M.L.3    Roulliard, P.4    Morgan, K.5    Rousseau, F.6
  • 41
    • 0022475535 scopus 로고
    • Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome
    • Donlon TA, Lalande M, Wyman A, Bruns G, Latt SA. Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome. Proc Natl Acad Sci USA 1986; 83: 4408-12.
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 4408-4412
    • Donlon, T.A.1    Lalande, M.2    Wyman, A.3    Bruns, G.4    Latt, S.A.5
  • 44
    • 0033200284 scopus 로고    scopus 로고
    • LETM1, a novel gene encoding a putative EF-Hand Ca-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients
    • Endele S, Fuhry M, Pak SJ, Zabel BU, Winterpacht A. LETM1, a novel gene encoding a putative EF-Hand Ca-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients. Genomics 1999; 60: 218-25.
    • (1999) Genomics , vol.60 , pp. 218-225
    • Endele, S.1    Fuhry, M.2    Pak, S.J.3    Zabel, B.U.4    Winterpacht, A.5
  • 45
    • 0011890827 scopus 로고    scopus 로고
    • Down syndrome
    • Rosenberg RN, Prusiner SB, Di Mauro S, Barchi RL, eds. Boston: Butterworth-Heinemann
    • Epstein CJ. Down syndrome. In: Rosenberg RN, Prusiner SB, Di Mauro S, Barchi RL, eds. The molecular and genetic basis of neurological diseases. Boston: Butterworth-Heinemann, 1997: 51-79.
    • (1997) The Molecular and Genetic Basis of Neurological Diseases , pp. 51-79
    • Epstein, C.J.1
  • 46
    • 0028097893 scopus 로고
    • Molecular characterization of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome
    • Estabrooks LL, Lamb AN, Aylsworth AS, Callanan NP, Rao KW. Molecular characterization of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome. J Med Genet 1994; 31: 103-7.
    • (1994) J Med Genet , vol.31 , pp. 103-107
    • Estabrooks, L.L.1    Lamb, A.N.2    Aylsworth, A.S.3    Callanan, N.P.4    Rao, K.W.5
  • 47
    • 0030958923 scopus 로고    scopus 로고
    • Mosaicism for deletion 1p36.33 in a patient with obesity and hyperphagia
    • Eugster EA, Berry SA, Hirsch B. Mosaicism for deletion 1p36.33 in a patient with obesity and hyperphagia. Am J Med Genet 1997; 70: 409-12.
    • (1997) Am J Med Genet , vol.70 , pp. 409-412
    • Eugster, E.A.1    Berry, S.A.2    Hirsch, B.3
  • 48
    • 0032899034 scopus 로고    scopus 로고
    • Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature
    • Faivre L, Morichon-Delvallez N, Vior G, et al. Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature. Pren Diagn 1999; 19: 49-53.
    • (1999) Pren Diagn , vol.19 , pp. 49-53
    • Faivre, L.1    Morichon-Delvallez, N.2    Vior, G.3
  • 50
    • 0020953743 scopus 로고
    • Ring chromosome 14: A distinct clinical entity
    • Fryns JP, Kubien E, Kleczkowska A, et al. Ring chromosome 14: a distinct clinical entity. J Hum Genet 1983; 31: 367-75.
    • (1983) J Hum Genet , vol.31 , pp. 367-375
    • Fryns, J.P.1    Kubien, E.2    Kleczkowska, A.3
  • 51
  • 53
    • 0018851307 scopus 로고
    • Startle epilepsy complicating Down syndrome during adulthood
    • Gimenez-Roldan S, Martin M. Startle epilepsy complicating Down syndrome during adulthood. Ann Neurol 1980; 7: 78-80.
    • (1980) Ann Neurol , vol.7 , pp. 78-80
    • Gimenez-Roldan, S.1    Martin, M.2
  • 54
    • 0030962383 scopus 로고    scopus 로고
    • Molecular cytogenetic detection of a deletion of 1p36.3
    • Giraudeau F, Aubert D, Young I, et al. Molecular cytogenetic detection of a deletion of 1p36.3. J Med Genet 1997; 34: 314-7.
    • (1997) J Med Genet , vol.34 , pp. 314-317
    • Giraudeau, F.1    Aubert, D.2    Young, I.3
  • 56
    • 0019800476 scopus 로고
    • Neurpathological findings in Wolf-Hirschhorn (4p-) syndrome
    • Gottfried M, Lavine L, Roessmann U. Neurpathological findings in Wolf-Hirschhorn (4p-) syndrome. Acta Neuropathol (Berl) 1981; 55: 163-5.
    • (1981) Acta Neuropathol (Berl) , vol.55 , pp. 163-165
    • Gottfried, M.1    Lavine, L.2    Roessmann, U.3
  • 57
    • 0026975693 scopus 로고
    • Epilessia e crisi epilettiche nella sindrome del cromosoma X fragile
    • Guerrini R, Battaglia A, Mattei MG, et al. Epilessia e crisi epilettiche nella sindrome del cromosoma X fragile. Boll Lega It Epil 1992: 73-4; (79/80).
    • (1992) Boll Lega It Epil , Issue.79-80 , pp. 73-74
    • Guerrini, R.1    Battaglia, A.2    Mattei, M.G.3
  • 58
    • 0024808983 scopus 로고
    • Caratteristiche elettrocliniche dell'epilessia nella Sindrome di Down
    • Guerrini R, Battaglia A, Stagi P, et al. Caratteristiche elettrocliniche dell'epilessia nella Sindrome di Down. Boll Lega It Epil 1989: 317-9; (66/67).
    • (1989) Boll Lega It Epil , Issue.66-67 , pp. 317-319
    • Guerrini, R.1    Battaglia, A.2    Stagi, P.3
  • 59
    • 0025006217 scopus 로고
    • Trisomy 12p syndrome: A chromosomal disorder associated with generalized 3-Hz spike and wave discharges
    • Guerrini R, Bureau M, Mattei MG, Battaglia A, Galland MC, Roger J. Trisomy 12p syndrome: a chromosomal disorder associated with generalized 3-Hz spike and wave discharges. Epilepsia 1990; 31: 557-66.
    • (1990) Epilepsia , vol.31 , pp. 557-566
    • Guerrini, R.1    Bureau, M.2    Mattei, M.G.3    Battaglia, A.4    Galland, M.C.5    Roger, J.6
  • 60
    • 0142217242 scopus 로고    scopus 로고
    • Angelman Syndrome: Etiology, Clinical Features, Diagnosis and Management of Symptoms
    • Guerrini R, Carrozzo R, Rinaldi R, Bonanni P. Angelman Syndrome: Etiology, Clinical Features, Diagnosis and Management of Symptoms. Pediatric Drugs 2003; 10: 647-51.
    • (2003) Pediatric Drugs , vol.10 , pp. 647-651
    • Guerrini, R.1    Carrozzo, R.2    Rinaldi, R.3    Bonanni, P.4
  • 61
    • 8944228923 scopus 로고    scopus 로고
    • Cortical myoclonus in Angelman syndrome
    • Guerrini R, De Lorey TM, Bonanni P, et al. Cortical myoclonus in Angelman syndrome. Ann Neurol 1996; 40: 39-48.
    • (1996) Ann Neurol , vol.40 , pp. 39-48
    • Guerrini, R.1    De Lorey, T.M.2    Bonanni, P.3
  • 62
    • 0006969895 scopus 로고
    • Evoluzione dell'epilessia nelle più frequenti forme genetiche con ritardo mentale, (sindrome di Down e sindrome dell'X fragile)
    • Med Surg Ped
    • Guerrini R, Dravet C, Ferrari AR, et al. Evoluzione dell'epilessia nelle più frequenti forme genetiche con ritardo mentale, (sindrome di Down e sindrome dell'X fragile). Ped Med Chir 1993; 15:19-22; (Med Surg Ped).
    • (1993) Ped Med Chir , vol.15 , pp. 19-22
    • Guerrini, R.1    Dravet, C.2    Ferrari, A.R.3
  • 63
    • 0025330592 scopus 로고
    • Reflex seizures are frequent in patients with Down syndrome and epilepsy
    • Guerrini R, Genton P, Bureau M, Dravet C, Roger J. Reflex seizures are frequent in patients with Down syndrome and epilepsy. Epilepsia 1990; 31: 406-17.
    • (1990) Epilepsia , vol.31 , pp. 406-417
    • Guerrini, R.1    Genton, P.2    Bureau, M.3    Dravet, C.4    Roger, J.5
  • 64
    • 0001784553 scopus 로고    scopus 로고
    • Chromosomal abnormalities
    • Engel J, Pedley T, eds. Philadelphia-New York: Lippincott-Raven
    • Guerrini R, Gobbi G, Genton P, Bonanni P, Carrozzo R. Chromosomal abnormalities. In: Engel J, Pedley T, eds. Epilepsy-Vol.3. Philadelphia-New York: Lippincott-Raven, 1997: 2533-46.
    • (1997) Epilepsy - Vol.3 , vol.3 , pp. 2533-2546
    • Guerrini, R.1    Gobbi, G.2    Genton, P.3    Bonanni, P.4    Carrozzo, R.5
  • 66
    • 0030054149 scopus 로고    scopus 로고
    • Learning-disabled males with a fragile X CGG expansion in the upper premutation size range
    • Hagerman RJ, Staley LW, O' Conner R, et al. Learning-disabled males with a fragile X CGG expansion in the upper premutation size range. Pediatrics 1996; 97: 122-6.
    • (1996) Pediatrics , vol.97 , pp. 122-126
    • Hagerman, R.J.1    Staley, L.W.2    O'Conner, R.3
  • 67
    • 25844435521 scopus 로고    scopus 로고
    • Fragile X syndrome
    • Cassidy SB, Allanson JE, eds. Hoboken: John Wiley & Sons Inc
    • Hagerman RJ. Fragile X syndrome. In: Cassidy SB, Allanson JE, eds. Management of Genetic Syndromes. Hoboken: John Wiley & Sons Inc, 2005: 251-63.
    • (2005) Management of Genetic Syndromes , pp. 251-263
    • Hagerman, R.J.1
  • 68
    • 0001966753 scopus 로고    scopus 로고
    • Physical and behavioral phenotype
    • Hagerman RJ, Hagerman PJ, eds. Baltimore: Johns Hopkins University Press
    • Hagerman RJ. Physical and behavioral phenotype. In: Hagerman RJ, Hagerman PJ, eds. 3rd ed. Fragile X syndrome: Diagnosis, treatment and research. Baltimore: Johns Hopkins University Press, 2002: 3-109.
    • (2002) 3rd Ed. Fragile X Syndrome: Diagnosis, Treatment and Research , pp. 3-109
    • Hagerman, R.J.1
  • 69
    • 0019217574 scopus 로고
    • The ascertainment and implications of an unbalanced translocation in theneonate: Familial 1: 15 translocation
    • Hain D, Leversha M, Campbell N. The ascertainment and implications of an unbalanced translocation in theneonate: Familial 1: 15 translocation. Austr Paediatr J 1980; 16: 196-200.
    • (1980) Austr Paediatr J , vol.16 , pp. 196-200
    • Hain, D.1    Leversha, M.2    Campbell, N.3
  • 70
    • 0038406165 scopus 로고    scopus 로고
    • Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterisation of the syndrome
    • Heilstedt HA, Ballif BC, Howard LA, et al. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterisation of the syndrome. Am J Hum Genet 2003; 72: 1200-12.
    • (2003) Am J Hum Genet , vol.72 , pp. 1200-1212
    • Heilstedt, H.A.1    Ballif, B.C.2    Howard, L.A.3
  • 71
    • 0034785511 scopus 로고    scopus 로고
    • Loss of the potassium channel β-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome
    • Heilstedt HA, Burgess DL, Anderson AE, et al. Loss of the potassium channel β-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome. Epilepsia 2001; 42: 1103-11.
    • (2001) Epilepsia , vol.42 , pp. 1103-1111
    • Heilstedt, H.A.1    Burgess, D.L.2    Anderson, A.E.3
  • 72
  • 73
    • 25844491498 scopus 로고
    • Extra structurally abnormal chromosomes (ESAC) detected at amniocentesis: Frequency in approximately 75,000 prenatal cytogenic diagnoses and associations with maternal and paternal age
    • Hook EB, Cross K. Extra structurally abnormal chromosomes (ESAC) detected at amniocentesis: frequency in approximately 75,000 prenatal cytogenic diagnoses and associations with maternal and paternal age. Am J Hum Genet 1987; 54: 748-56.
    • (1987) Am J Hum Genet , vol.54 , pp. 748-756
    • Hook, E.B.1    Cross, K.2
  • 74
    • 0002682681 scopus 로고
    • Prevalence, risks and recurrence
    • Brock DJ, Ferguson-Smith MA, eds. London: Churchill Livingstone
    • Hook EB. Prevalence, risks and recurrence. In: Brock DJ, Ferguson-Smith MA, eds. Prenatal diagnosis and screening. London: Churchill Livingstone, 1992: 351-92.
    • (1992) Prenatal Diagnosis and Screening , pp. 351-392
    • Hook, E.B.1
  • 75
    • 0030911459 scopus 로고    scopus 로고
    • Ring chromosome 20 and nonconvulsive status epilepticus: A new epileptic syndrome
    • Inoue Y, Fujiwara T, Matsuda K, et al. Ring chromosome 20 and nonconvulsive status epilepticus: A new epileptic syndrome. Brain 1997; 120: 939-53.
    • (1997) Brain , vol.120 , pp. 939-953
    • Inoue, Y.1    Fujiwara, T.2    Matsuda, K.3
  • 76
    • 0025847439 scopus 로고
    • Puppet-like syndrome of Angelman: A pathologic and neurochemical study
    • Jay V, Becker LE, Chan F-W, Perry TL. Puppet-like syndrome of Angelman: a pathologic and neurochemical study. Neurology 1991; 41: 416-22.
    • (1991) Neurology , vol.41 , pp. 416-422
    • Jay, V.1    Becker, L.E.2    Chan, F.-W.3    Perry, T.L.4
  • 77
    • 0019461231 scopus 로고
    • Genetic influences in the epilepsies
    • Jennings MT, Bird TD. Genetic influences in the epilepsies. Am J Dis Child 1981; 135: 450-7.
    • (1981) Am J Dis Child , vol.135 , pp. 450-457
    • Jennings, M.T.1    Bird, T.D.2
  • 80
    • 0026038832 scopus 로고
    • Epileptic seizures in the 4p- Syndrome: Report of two cases
    • Kanazawa O, Irie N, Kawai I. Epileptic seizures in the 4p- syndrome: report of two cases. Jpn J Psychiatry Neurol 1991; 45: 653-9.
    • (1991) Jpn J Psychiatry Neurol , vol.45 , pp. 653-659
    • Kanazawa, O.1    Irie, N.2    Kawai, I.3
  • 81
    • 0029115296 scopus 로고
    • Chromosome1p terminal deletion: Report of new findings and confirmation of two characteristic phenotypes
    • Keppler-Noreuil KM, Carroll AJ, Finley WH, Rutledge SL. Chromosome1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes. J Med Genet 1995; 32: 619-22.
    • (1995) J Med Genet , vol.32 , pp. 619-622
    • Keppler-Noreuil, K.M.1    Carroll, A.J.2    Finley, W.H.3    Rutledge, S.L.4
  • 82
    • 0034057704 scopus 로고    scopus 로고
    • Neurodevelopmental profile of a new dysmorphic syndrome associated with submicroscopic partial deletion of 1p36.3
    • Knight-Jones E, Knight S, Heussler H, Regan R, Flint J, Martin K. Neurodevelopmental profile of a new dysmorphic syndrome associated with submicroscopic partial deletion of 1p36.3. Dev Med Child Neurol 2000; 42: 201-6.
    • (2000) Dev Med Child Neurol , vol.42 , pp. 201-206
    • Knight-Jones, E.1    Knight, S.2    Heussler, H.3    Regan, R.4    Flint, J.5    Martin, K.6
  • 83
    • 0031738578 scopus 로고    scopus 로고
    • Adverse effects of Vigabatrin in Angelman Syndrome
    • Kuenzle C, Steinlin M, Wohlrab G, et al. Adverse effects of Vigabatrin in Angelman Syndrome. Epilepsia 1998; 39: 1213-5.
    • (1998) Epilepsia , vol.39 , pp. 1213-1215
    • Kuenzle, C.1    Steinlin, M.2    Wohlrab, G.3
  • 85
    • 0031050904 scopus 로고    scopus 로고
    • Evolution of epilepsy and EEC findings in Angelman syndrome
    • Laan LAEM, Renier WO, Arts WFM, et al. Evolution of epilepsy and EEC findings in Angelman syndrome. Epilepsia 1997; 38: 195-9.
    • (1997) Epilepsia , vol.38 , pp. 195-199
    • Laem, L.1    Renier, W.O.2    Arts, W.F.M.3
  • 87
    • 0018820970 scopus 로고
    • The Wolf-Hirschhorn syndrome. II. Pathologic anatomy
    • Lazjuk GI, Lurie IW, Ostrowskaja TI, et al. The Wolf-Hirschhorn syndrome. II. Pathologic anatomy. Clin Genet 1980; 18: 6-12.
    • (1980) Clin Genet , vol.18 , pp. 6-12
    • Lazjuk, G.I.1    Lurie, I.W.2    Ostrowskaja, T.I.3
  • 88
    • 0019442464 scopus 로고
    • Ring 14 chromosome: Association with seizures
    • Lippe BM, Sparkes RS. Ring 14 chromosome: association with seizures. Am J Med Genet 1981; 9: 301-5.
    • (1981) Am J Med Genet , vol.9 , pp. 301-305
    • Lippe, B.M.1    Sparkes, R.S.2
  • 90
    • 0028275961 scopus 로고
    • Two Prader-Willi/Angelman syndrome loci present in an isodicentric marker chromosome
    • Luke S, Verma RS, Giridharan R, Conte RA, Macera MJ. Two Prader-Willi/Angelman syndrome loci present in an isodicentric marker chromosome. Am J Med Genet 1994; 51: 232-3.
    • (1994) Am J Med Genet , vol.51 , pp. 232-233
    • Luke, S.1    Verma, R.S.2    Giridharan, R.3    Conte, R.A.4    Macera, M.J.5
  • 92
    • 0342968044 scopus 로고
    • Small terminal deletion of chromosome 1 short arm in an infant with multiple anomalies: Confirmation by in situ hybridisation of probe p1-79
    • Magenis RE, Sheehy R, Lacey D, Brown MG, Litt M. Small terminal deletion of chromosome 1 short arm in an infant with multiple anomalies: confirmation by in situ hybridisation of probe p1-79. Am J Hum Genet 1987; 41: A130.
    • (1987) Am J Hum Genet , vol.41
    • Magenis, R.E.1    Sheehy, R.2    Lacey, D.3    Brown, M.G.4    Litt, M.5
  • 93
    • 0025368059 scopus 로고
    • Transmission of ring 14 chromosome from mother to two sons
    • Matalon R, Supple P, Wyandt H, et al. Transmission of ring 14 chromosome from mother to two sons. Am J Med Genet 1990; 36:381-5.
    • (1990) Am J Med Genet , vol.36 , pp. 381-385
    • Matalon, R.1    Supple, P.2    Wyandt, H.3
  • 94
    • 0027092556 scopus 로고
    • Epilepsy in Angelman syndrome associated with chromosome 15q deletion
    • Matsumoto A, Kumagai T, Miura K, et al. Epilepsy in Angelman syndrome associated with chromosome 15q deletion. Epilepsia 1992; 33: 1083-90.
    • (1992) Epilepsia , vol.33 , pp. 1083-1090
    • Matsumoto, A.1    Kumagai, T.2    Miura, K.3
  • 95
    • 15144357226 scopus 로고    scopus 로고
    • The epilepsy of Angelman syndrome due to deletion, disomy, imprinting center and UB3A mutations
    • Minassian B, DeLorey T, Olsen RW, et al. The epilepsy of Angelman syndrome due to deletion, disomy, imprinting center and UB3A mutations. Ann Neurol 1998; 43: 485-93.
    • (1998) Ann Neurol , vol.43 , pp. 485-493
    • Minassian, B.1    Delorey, T.2    Olsen, R.W.3
  • 97
    • 0014458653 scopus 로고
    • Electro-encephalographic findings in patients with Klinefelter's syndrome and the XXY-syndrome
    • Nielsen J, Pedersen E. Electro-encephalographic findings in patients with Klinefelter's syndrome and the XXY-syndrome. Acta Neurol Scand 1969; 45: 87-94.
    • (1969) Acta Neurol Scand , vol.45 , pp. 87-94
    • Nielsen, J.1    Pedersen, E.2
  • 98
    • 0017360914 scopus 로고
    • A newborn child with caryotype 47, XX,+der(12)(12pter> 12q12:8q24 > 8qter), t(8; 12)(q24;q12)pat
    • Nielsen J, Venter M, Holm V, Askjaer SA, Reske-Nielsen E. A newborn child with caryotype 47, XX,+der(12)(12pter> 12q12:8q24 > 8qter), t(8; 12)(q24;q12)pat. Hum Genet 1977; 35: 357-62.
    • (1977) Hum Genet , vol.35 , pp. 357-362
    • Nielsen, J.1    Venter, M.2    Holm, V.3    Askjaer, S.A.4    Reske-Nielsen, E.5
  • 99
    • 2742558639 scopus 로고    scopus 로고
    • The Wolf-Hirschhorn syndrome in adulthood: Evaluation of a 24-year-old man with a rec(4) chromosome
    • Ogle R, Sillence DO, Merrick A, et al. The Wolf-Hirschhorn syndrome in adulthood: evaluation of a 24-year-old man with a rec(4) chromosome. Am J Med Genet 1996; 65: 124-7.
    • (1996) Am J Med Genet , vol.65 , pp. 124-127
    • Ogle, R.1    Sillence, D.O.2    Merrick, A.3
  • 100
    • 0033287565 scopus 로고    scopus 로고
    • Non-convulsive status in the ring chromosome 20 syndrome: A video illustration of 3 cases
    • Petit J, Roubertie A, Inoue Y, et al. Non-convulsive status in the ring chromosome 20 syndrome: a video illustration of 3 cases. Epileptic Disord 1999; 1: 237-41.
    • (1999) Epileptic Disord , vol.1 , pp. 237-241
    • Petit, J.1    Roubertie, A.2    Inoue, Y.3
  • 102
  • 104
    • 0030070977 scopus 로고    scopus 로고
    • Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: A clinical and molecular study
    • Reid I, Morrison N, Barron L, et al. Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study. J Med Genet 1996; 33: 197-202.
    • (1996) J Med Genet , vol.33 , pp. 197-202
    • Reid, I.1    Morrison, N.2    Barron, L.3
  • 105
    • 0028861983 scopus 로고
    • Partial monosomy of chromosome 1p36.3: Characterisation of the critical region and delineation of a syndrome
    • Reish O, Berry SA, Hirsch B. Partial monosomy of chromosome 1p36.3: characterisation of the critical region and delineation of a syndrome. Am J Med Genet 1995; 59: 467-75.
    • (1995) Am J Med Genet , vol.59 , pp. 467-475
    • Reish, O.1    Berry, S.A.2    Hirsch, B.3
  • 106
    • 0033613986 scopus 로고    scopus 로고
    • Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes
    • Riegel M, Castellan C, Balmer D, Brecevic L, Schinzel A. Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes. Am J Med Genet 1999; 82: 249-53.
    • (1999) Am J Med Genet , vol.82 , pp. 249-253
    • Riegel, M.1    Castellan, C.2    Balmer, D.3    Brecevic, L.4    Schinzel, A.5
  • 108
    • 0027792161 scopus 로고
    • Clinical and molecular analysis of five inv dup (15) patients
    • Robinson WP, Binkert F, Gine R, et al. Clinical and molecular analysis of five inv dup (15) patients, Eur J Hum Genet 1993; 1: 37-50.
    • (1993) Eur J Hum Genet , vol.1 , pp. 37-50
    • Robinson, W.P.1    Binkert, F.2    Gine, R.3
  • 109
    • 0034011786 scopus 로고    scopus 로고
    • Chromosome 20 en anneau: Un syndrome épileptique identifiable
    • Roubertie A, Petit J, Genton P. Chromosome 20 en anneau: un syndrome épileptique identifiable. Rev Neurol 2000; 156: 149-53.
    • (2000) Rev Neurol , vol.156 , pp. 149-153
    • Roubertie, A.1    Petit, J.2    Genton, P.3
  • 110
    • 0031228039 scopus 로고    scopus 로고
    • The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
    • letter
    • Rougelle C, Glatt H, Lalande M. The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nat Genet 1997; 17: 14-5; [letter].
    • (1997) Nat Genet , vol.17 , pp. 14-5
    • Rougelle, C.1    Glatt, H.2    Lalande, M.3
  • 111
    • 0028799833 scopus 로고
    • Prevalence of carriers of premutation-size alleles of the FMR1 gene and implications for the population genetics of the fragile X syndrome
    • Rousseau F, Roulliard P, Morel ML, Khandjian EW, Morgan K. Prevalence of carriers of premutation-size alleles of the FMR1 gene and implications for the population genetics of the fragile X syndrome. Am J Hum Genet 1995; 57: 1006-18.
    • (1995) Am J Hum Genet , vol.57 , pp. 1006-1018
    • Rousseau, F.1    Roulliard, P.2    Morel, M.L.3    Khandjian, E.W.4    Morgan, K.5
  • 114
    • 0034802367 scopus 로고    scopus 로고
    • Chromosome imbalances associated with epilepsy
    • Semin Med Genet
    • Schinzel A, Niedrist D. Chromosome imbalances associated with epilepsy. Am J Med Genet 2001; 106: 119-24; (Semin Med Genet).
    • (2001) Am J Med Genet , vol.106 , pp. 119-124
    • Schinzel, A.1    Niedrist, D.2
  • 116
    • 0019834614 scopus 로고
    • Ring chromosome 14: A distinct clinical entity
    • Schmidt R, Eviatar L, Nitowski HM, et al. Ring chromosome 14: a distinct clinical entity. J Med Genet 1981; 18: 304-7.
    • (1981) J Med Genet , vol.18 , pp. 304-307
    • Schmidt, R.1    Eviatar, L.2    Nitowski, H.M.3
  • 117
    • 0028868387 scopus 로고
    • 4p-syndrome: A chromosomal disorder associated with a particular EEC pattern
    • Sgrò V, Riva E, Canevini MP, et al. 4p-syndrome: a chromosomal disorder associated with a particular EEC pattern. Epilepsia 1995; 36: 1206-14.
    • (1995) Epilepsia , vol.36 , pp. 1206-1214
    • Sgrò, V.1    Riva, E.2    Canevini, M.P.3
  • 118
  • 119
    • 0030870848 scopus 로고    scopus 로고
    • Chromosome 1p36 deletions: The clinical phenotype and molecular characterisation of a common newly delineated syndrome
    • Shapira SK, McCaskill C, Northrup H, et al. Chromosome 1p36 deletions: the clinical phenotype and molecular characterisation of a common newly delineated syndrome. Am J Hum Genet 1997; 61: 642-50.
    • (1997) Am J Hum Genet , vol.61 , pp. 642-650
    • Shapira, S.K.1    McCaskill, C.2    Northrup, H.3
  • 120
    • 0005968048 scopus 로고    scopus 로고
    • Epidemiology
    • Hagerman RJ, Hagerman PJ, eds. Baltimore: Johns Hopkins University Press
    • Sherman S. Epidemiology. In: Hagerman RJ, Hagerman PJ, eds. 3rd ed. Fragile X syndrome: Diagnosis, treatment and research. Baltimore: Johns Hopkins University Press, 2002: 136-68.
    • (2002) 3rd Ed. Fragile X Syndrome: Diagnosis, Treatment and Research , pp. 136-168
    • Sherman, S.1
  • 121
    • 0036077159 scopus 로고    scopus 로고
    • Absence of age effect on meiotic recombination between human X and Y chromosomes
    • Shi Q, Spriggs E, Field LL, et al. Absence of age effect on meiotic recombination between human X and Y chromosomes. Am J Hum Genet 2002; 71: 254-61.
    • (2002) Am J Hum Genet , vol.71 , pp. 254-261
    • Shi, Q.1    Spriggs, E.2    Field, L.L.3
  • 124
    • 0032901062 scopus 로고    scopus 로고
    • Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres
    • Slavotinek A, Rosenberg M, Knight S, et al. Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. J Med Genet 1999; 36: 405-11.
    • (1999) J Med Genet , vol.36 , pp. 405-411
    • Slavotinek, A.1    Rosenberg, M.2    Knight, S.3
  • 127
    • 0028260762 scopus 로고
    • Infantile spasms in children with Down syndrome
    • Stafstrom CE, Konkol RJ. Infantile spasms in children with Down syndrome. Dev Med Chil Neurol 1994; 36: 576-85.
    • (1994) Dev Med Chil Neurol , vol.36 , pp. 576-585
    • Stafstrom, C.E.1    Konkol, R.J.2
  • 129
  • 130
  • 131
    • 0021276842 scopus 로고
    • Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4; 8)(p15.3; p22). Case report, review and risk estimates
    • Stengel-Rutkowski S, Warkotsch A, Schimanek P, Stene J. Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4; 8)(p15.3; p22). Case report, review and risk estimates. Clin Genet 1984; 25: 500-21.
    • (1984) Clin Genet , vol.25 , pp. 500-521
    • Stengel-Rutkowski, S.1    Warkotsch, A.2    Schimanek, P.3    Stene, J.4
  • 133
    • 0034163070 scopus 로고    scopus 로고
    • Symptomatic generalized epilepsy associated with an inverted duplication of chromosome 15
    • Takeda Y, Baba A, Nakamura F, Ito M, Honma H, Koyama T. Symptomatic generalized epilepsy associated with an inverted duplication of chromosome 15. Seizure 2000; 9: 145-50.
    • (2000) Seizure , vol.9 , pp. 145-150
    • Takeda, Y.1    Baba, A.2    Nakamura, F.3    Ito, M.4    Honma, H.5    Koyama, T.6
  • 134
    • 0033612144 scopus 로고    scopus 로고
    • FMRP expression as a potential prognostic indicator in fragile X syndrome
    • Tassone F, Hagerman RJ, Ikle D, et al. FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet 1999; 84: 250-61.
    • (1999) Am J Med Genet , vol.84 , pp. 250-261
    • Tassone, F.1    Hagerman, R.J.2    Ikle, D.3
  • 135
    • 0034016083 scopus 로고    scopus 로고
    • Clinical involvement and protein expression in individuals with FMR1 premutation
    • Tassone F, Hagerman RJ, Taylor AK, et al. Clinical involvement and protein expression in individuals with FMR1 premutation. Am J Med Genet 2000; 91: 144-52.
    • (2000) Am J Med Genet , vol.91 , pp. 144-152
    • Tassone, F.1    Hagerman, R.J.2    Taylor, A.K.3
  • 136
    • 0021253830 scopus 로고
    • Epilepsy in childhood Down syndrome
    • Tatsuno M, Hayashi M, Iwamoto H, et al. Epilepsy in childhood Down syndrome. Brain Dev 1984; 6: 37-44.
    • (1984) Brain Dev , vol.6 , pp. 37-44
    • Tatsuno, M.1    Hayashi, M.2    Iwamoto, H.3
  • 137
    • 0033777149 scopus 로고    scopus 로고
    • A reinvestigation of non-disjunction resulting in 47, XXY males of paternal origin
    • Thomas NS, Collins AR, Hassold TJ, Jacobs PA. A reinvestigation of non-disjunction resulting in 47, XXY males of paternal origin. Eur J Hum Genet 2000; 8: 805-8.
    • (2000) Eur J Hum Genet , vol.8 , pp. 805-808
    • Thomas, N.S.1    Collins, A.R.2    Hassold, T.J.3    Jacobs, P.A.4
  • 138
    • 0034794710 scopus 로고    scopus 로고
    • Rearrangements of chromosome 15 in epilepsy
    • Semin Med Genet
    • Torrisi L, Sangiorgi E, Russo L, Gurrieri F. Rearrangements of chromosome 15 in epilepsy. Am J Med Genet 2001; 106: 125-8; (Semin Med Genet).
    • (2001) Am J Med Genet , vol.106 , pp. 125-128
    • Torrisi, L.1    Sangiorgi, E.2    Russo, L.3    Gurrieri, F.4
  • 139
    • 0026515262 scopus 로고
    • Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome
    • Tupler R, Bortotto L, Buhler EM, et al. Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome. J Med Genet 1992; 29: 53-5.
    • (1992) J Med Genet , vol.29 , pp. 53-55
    • Tupler, R.1    Bortotto, L.2    Buhler, E.M.3
  • 140
    • 4444242261 scopus 로고    scopus 로고
    • Mild Wolf-Hirschhorn syndrome: Micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map
    • Van Buggenhout G, Melotte C, Dutta B, et al. Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. J Med Genet 2004; 41: 691-8.
    • (2004) J Med Genet , vol.41 , pp. 691-698
    • Van Buggenhout, G.1    Melotte, C.2    Dutta, B.3
  • 141
    • 0016134859 scopus 로고
    • The prevalence of epilepsy among mongols related to age
    • Veall RM. The prevalence of epilepsy among mongols related to age. J Ment Def Res 1974; 18: 99-106.
    • (1974) J Ment Def Res , vol.18 , pp. 99-106
    • Veall, R.M.1
  • 142
    • 0028803823 scopus 로고
    • Seizure and EEC patterns in Angelman's syndrome
    • Viani F, Romeo A, Viri M, et al. Seizure and EEC patterns in Angelman's syndrome. J Child Neurol 1995; 10: 467-71.
    • (1995) J Child Neurol , vol.10 , pp. 467-471
    • Viani, F.1    Romeo, A.2    Viri, M.3
  • 143
    • 0031881661 scopus 로고    scopus 로고
    • A clinical, cytogenetic and molecular study of ten probands with inv dup (15) marker chromosomes
    • Webb T, Hardy CA, King M, Watkiss E, Mitchell C, Cole T. A clinical, cytogenetic and molecular study of ten probands with inv dup (15) marker chromosomes. Clin Genet 1998; 53: 34-43.
    • (1998) Clin Genet , vol.53 , pp. 34-43
    • Webb, T.1    Hardy, C.A.2    King, M.3    Watkiss, E.4    Mitchell, C.5    Cole, T.6
  • 145
    • 25844514605 scopus 로고    scopus 로고
    • Angelman syndrome
    • Cassidy SB, Allanson JE, eds. Hoboken: John Wiley & Sons Inc
    • Williams CA. Angelman syndrome. In: Cassidy SB, Allanson JE, eds. Management of Genetic Syndromes. Hoboken: John Wiley & Sons Inc, 2005: 53-62.
    • (2005) Management of Genetic Syndromes , pp. 53-62
    • Williams, C.A.1
  • 146
    • 0021601145 scopus 로고
    • Evidence of arrest of neurogenesis and synaptogenesis in brains of patients with Down syndrome
    • Wisniewski KE, Laure-Kamionowska M, Wisniewski HM. Evidence of arrest of neurogenesis and synaptogenesis in brains of patients with Down syndrome. N Engl J Med 1984: 1187-8.
    • (1984) N Engl J Med , pp. 1187-1188
    • Wisniewski, K.E.1    Laure-Kamionowska, M.2    Wisniewski, H.M.3
  • 147
    • 0026026911 scopus 로고
    • The Fra (X) syndrome: Neurological, electrophysiological, and neuropathological abnormalities
    • Wisniewski KE, Segan SM, Miezejesji EA, Sersen EA, Rudelli RD. The Fra (X) syndrome: neurological, electrophysiological, and neuropathological abnormalities. Am J Med Genet 1991; 38: 476-80.
    • (1991) Am J Med Genet , vol.38 , pp. 476-480
    • Wisniewski, K.E.1    Segan, S.M.2    Miezejesji, E.A.3    Sersen, E.A.4    Rudelli, R.D.5
  • 148
    • 0032898935 scopus 로고    scopus 로고
    • Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions
    • Wu YQ, Heilstedt HA, Bedell JA, et al. Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions. Hum Mol Genet 1999; 8: 313-21.
    • (1999) Hum Mol Genet , vol.8 , pp. 313-321
    • Wu, Y.Q.1    Heilstedt, H.A.2    Bedell, J.A.3
  • 150
    • 0035102531 scopus 로고    scopus 로고
    • A characteristic EEC pattern in 4p- Syndrome: Case report and review of the literature
    • Zankl A, Addor MC, Maeder-Ingvar M, Schorderet DF. A characteristic EEC pattern in 4p- syndrome: case report and review of the literature. Eur J Pediatr 2001; 160: 123-7.
    • (2001) Eur J Pediatr , vol.160 , pp. 123-127
    • Zankl, A.1    Addor, M.C.2    Maeder-Ingvar, M.3    Schorderet, D.F.4
  • 151
    • 0026009081 scopus 로고
    • Ring chromosome 14 syndrome: Report of two cases, including extended evaluation of a previously reported patient and review
    • Zelante L, Torricelli F, Galvano S, et al. Ring chromosome 14 syndrome: report of two cases, including extended evaluation of a previously reported patient and review. Ann Genet 1991; 34: 93-7.
    • (1991) Ann Genet , vol.34 , pp. 93-97
    • Zelante, L.1    Torricelli, F.2    Galvano, S.3
  • 152
    • 0037373130 scopus 로고    scopus 로고
    • Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2
    • Zollino M, Lecce R, Fischetto R, et al. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet 2003; 72: 590-7.
    • (2003) Am J Hum Genet , vol.72 , pp. 590-597
    • Zollino, M.1    Lecce, R.2    Fischetto, R.3
  • 154
    • 25844434201 scopus 로고    scopus 로고
    • Presentation, clinical evaluation and outcome in ring chromosome 20 syndrome
    • abstract
    • Zuberi SM, Biraben AJ. Presentation, clinical evaluation and outcome in ring chromosome 20 syndrome. Brain Dev 2004; 26: 554-5 [abstract].
    • (2004) Brain Dev , vol.26 , pp. 554-555
    • Zuberi, S.M.1    Biraben, A.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.