메뉴 건너뛰기




Volumn 16, Issue 6, 2012, Pages 744-748

Apneic crises: A clue for MECP2 testing in severe neonatal hypotonia-respiratory failure

Author keywords

Male Rett syndrome; Methyl CpG binding protein 2 MECP2 mutation; Neonatal apneic episodes; Neonatal respiratory failure

Indexed keywords

ANTIBIOTIC AGENT; CARBON DIOXIDE; CORTISONE; METHYL CPG BINDING PROTEIN 2;

EID: 84867098497     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2012.03.001     Document Type: Article
Times cited : (12)

References (12)
  • 1
    • 78649632841 scopus 로고    scopus 로고
    • Evolving role of MECP2 in Rett syndrome and autism
    • J.M. Lasalle, and D.H. Yasui Evolving role of MECP2 in Rett syndrome and autism Epigenomics 1 1 2009 119 130
    • (2009) Epigenomics , vol.1 , Issue.1 , pp. 119-130
    • Lasalle, J.M.1    Yasui, D.H.2
  • 2
    • 0031831762 scopus 로고    scopus 로고
    • Neonatal encephalopathy in two boys in families with recurrent Rett syndrome
    • N.C. Schanen, T.W. Kurczynski, and D. Brunelle Neonatal encephalopathy in two boys in families with recurrent Rett syndrome J Child Neurol 13 5 1998 229 231
    • (1998) J Child Neurol , vol.13 , Issue.5 , pp. 229-231
    • Schanen, N.C.1    Kurczynski, T.W.2    Brunelle, D.3
  • 3
    • 0034711147 scopus 로고    scopus 로고
    • Two affected boys in a Rett syndrome family. Clinical and molecular findings
    • L. Villard, A. Kpebe, and C. Cardoso Two affected boys in a Rett syndrome family. Clinical and molecular findings Neurology 55 8 2000 1188 1193
    • (2000) Neurology , vol.55 , Issue.8 , pp. 1188-1193
    • Villard, L.1    Kpebe, A.2    Cardoso, C.3
  • 4
    • 0035849529 scopus 로고    scopus 로고
    • MECP2 mutations in children with and without the phenotype of Rett syndrome
    • K. Hoffbuhr, J.M. Devaney, and B. LaFleur MECP2 mutations in children with and without the phenotype of Rett syndrome Neurology 56 11 2001 1486 1495
    • (2001) Neurology , vol.56 , Issue.11 , pp. 1486-1495
    • Hoffbuhr, K.1    Devaney, J.M.2    Lafleur, B.3
  • 5
    • 0035727491 scopus 로고    scopus 로고
    • Mutation analysis in Rett syndrome
    • J.M. Milunsky, R.V. Lebo, and T. Ikuta Mutation analysis in Rett syndrome Genet Test 5 4 2001 321 325
    • (2001) Genet Test , vol.5 , Issue.4 , pp. 321-325
    • Milunsky, J.M.1    Lebo, R.V.2    Ikuta, T.3
  • 6
    • 0036120278 scopus 로고    scopus 로고
    • Rett syndrome: Clinical manifestations in males with MECP2 mutations
    • B.B. Zeev, Y. Yaron, and N.C. Schanen Rett syndrome: clinical manifestations in males with MECP2 mutations J Child Neurol 17 1 2002 20 24
    • (2002) J Child Neurol , vol.17 , Issue.1 , pp. 20-24
    • Zeev, B.B.1    Yaron, Y.2    Schanen, N.C.3
  • 7
    • 0036211908 scopus 로고    scopus 로고
    • MECP2 mutation in a boy with severe neonatal encephalopathy: Clinical, neuropathologic, and molecular findings
    • N. Geerdink, J.J. Rotteveel, and M. Lammens MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathologic, and molecular findings Neuropediatrics 33 1 2002 33 36
    • (2002) Neuropediatrics , vol.33 , Issue.1 , pp. 33-36
    • Geerdink, N.1    Rotteveel, J.J.2    Lammens, M.3
  • 8
    • 0037542471 scopus 로고    scopus 로고
    • Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2
    • S.A. Lynch, S.D. Whatley, and V. Ramesh Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2 Arch Dis Child Fetal Neonatal 88 3 2003 250 252
    • (2003) Arch Dis Child Fetal Neonatal , vol.88 , Issue.3 , pp. 250-252
    • Lynch, S.A.1    Whatley, S.D.2    Ramesh, V.3
  • 9
    • 8844247168 scopus 로고    scopus 로고
    • Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation
    • V. Leuzzi, M.L. Di Sabato, and M.L. Zollino Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation Neurology 63 10 2004 1968 1970
    • (2004) Neurology , vol.63 , Issue.10 , pp. 1968-1970
    • Leuzzi, V.1    Di Sabato, M.L.2    Zollino, M.L.3
  • 10
    • 33746861632 scopus 로고    scopus 로고
    • Early progressive encephalopathy in boys and MECP2 mutations
    • P. Kankirawatana, H. Leonard, and C. Ellaway Early progressive encephalopathy in boys and MECP2 mutations Neurology 67 1 2006 164 166
    • (2006) Neurology , vol.67 , Issue.1 , pp. 164-166
    • Kankirawatana, P.1    Leonard, H.2    Ellaway, C.3
  • 11
    • 36348971669 scopus 로고    scopus 로고
    • Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male probands
    • S.A. Hardwick, K. Reuter, and S.L. Williamson Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male probands Eur J Hum Genet 15 12 2007 1218 1229
    • (2007) Eur J Hum Genet , vol.15 , Issue.12 , pp. 1218-1229
    • Hardwick, S.A.1    Reuter, K.2    Williamson, S.L.3
  • 12
    • 67649786475 scopus 로고    scopus 로고
    • A novel MECP2 in a boy with neonatal encephalopathy and facial dysmorphism
    • K. Julich, D. Horn, and P. Burfeind A novel MECP2 in a boy with neonatal encephalopathy and facial dysmorphism J Pediatr 155 1 2009 140 143
    • (2009) J Pediatr , vol.155 , Issue.1 , pp. 140-143
    • Julich, K.1    Horn, D.2    Burfeind, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.