메뉴 건너뛰기




Volumn 73, Issue 1, 2015, Pages 12-17

Mowat-Wilson syndrome: Neurological and molecular study in seven patients;Síndrome de Mowat-Wilson: Estudo neurológico e molecular em sete pacientes

Author keywords

Corpus callosum agenesis; Epilepsy; Mental retardation; Microcephaly; Mowat Wilson syndrome

Indexed keywords

ADOLESCENT; ARTICLE; ASSESSMENT OF HUMANS; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; DENVER II SCALE; DISEASE ASSOCIATION; ELECTROENCEPHALOGRAM; FEMALE; FOCAL EPILEPSY; GENE; GENE MUTATION; GENETIC ANALYSIS; GLIOSIS; HUMAN; HYPERSALIVATION; LANGUAGE DISABILITY; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MOWAT WILSON SYNDROME; NEUROLOGIC DISEASE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SCHOOL CHILD; WALKING DIFFICULTY; ZEB2 GENE; FACIES; GENETICS; HIRSCHSPRUNG DISEASE; INFANT; INTELLECTUAL IMPAIRMENT; MUTATION; PATHOPHYSIOLOGY; RETROSPECTIVE STUDY;

EID: 84921785422     PISSN: 0004282X     EISSN: 16784227     Source Type: Journal    
DOI: 10.1590/0004-282X20140182     Document Type: Article
Times cited : (14)

References (20)
  • 1
    • 0031853185 scopus 로고    scopus 로고
    • Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: Delineation of a new syndrome and identification of a locus at chromosome 2q22-q23
    • Mowat DR, Croaker GD, Cass DT, et al. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. J Med Genet. 1998;35:617-23.
    • (1998) J Med Genet. , vol.35 , pp. 617-623
    • Mowat, D.R.1    Croaker, G.D.2    Cass, D.T.3
  • 2
    • 79960630650 scopus 로고    scopus 로고
    • Mowat-Wilson syndrome
    • Cassidy SB, Allanson JE, editors. 3rd ed. New Jersey: John Wiley and Sons
    • Mowat D, Wilson M. Mowat-Wilson syndrome. In: Cassidy SB, Allanson JE, editors. Management of genetic syndromes. 3rd ed. New Jersey: John Wiley and Sons; 2010.
    • (2010) Management of genetic syndromes.
    • Mowat, D.1    Wilson, M.2
  • 3
    • 0035394107 scopus 로고    scopus 로고
    • Loss of function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease
    • Cacheux V, Dastot-Le Moal F, Kääriäinen H, et al. Loss of function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. Hum Mol Genet. 2001;10:1503-10.
    • (2001) Hum Mol Genet. , vol.10 , pp. 1503-1510
    • Cacheux, V.1    Dastot-Le Moal, F.2    Kääriäinen, H.3
  • 4
    • 0035065576 scopus 로고    scopus 로고
    • Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease
    • Wakamatsu N, Yamada Y, Yamada K, et al. Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. Nat Genet. 2001;27:369-370.
    • (2001) Nat Genet. , vol.27 , pp. 369-370
    • Wakamatsu, N.1    Yamada, Y.2    Yamada, K.3
  • 5
    • 0033387743 scopus 로고    scopus 로고
    • FAST-1 is a key maternal effector of mesoderm inducers in the early Xenopus embryo
    • Watanabe M, Whitman M. FAST-1 is a key maternal effector of mesoderm inducers in the early Xenopus embryo. Development. 1999;126:5621-5634.
    • (1999) Development. , vol.126 , pp. 5621-5634
    • Watanabe, M.1    Whitman, M.2
  • 6
    • 0035116044 scopus 로고    scopus 로고
    • Structural insights on Smad function in TGFbeta signaling
    • Shi Y. Structural insights on Smad function in TGFbeta signaling. Bioessays. 2000;23:223-232.
    • (2000) Bioessays. , vol.23 , pp. 223-232
    • Shi, Y.1
  • 7
    • 0036011260 scopus 로고    scopus 로고
    • Expression of the SMADIP1 gene during early human development
    • Espinosa-Parrilla Y, Amiel J, Augé J, et al. Expression of the SMADIP1 gene during early human development. Mech Dev. 2002;114:187-191.
    • (2002) Mech Dev. , vol.114 , pp. 187-191
    • Espinosa-Parrilla, Y.1    Amiel, J.2    Augé, J.3
  • 8
    • 24344439201 scopus 로고    scopus 로고
    • Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation
    • McGaughran J, Sinnott S, Dastot-Le Moal F, et al. Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation. Am J Med Genet. 2005;137:302-304.
    • (2005) Am J Med Genet. , vol.137 , pp. 302-304
    • McGaughran, J.1    Sinnott, S.2    Dastot-Le Moal, F.3
  • 9
    • 21044444074 scopus 로고    scopus 로고
    • Clinical and mutational spectrum of Mowat-Wilson syndrome
    • Zweier C, Thiel CT, Dufke A, et al. Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet. 2005;48:97-111.
    • (2005) Eur J Med Genet. , vol.48 , pp. 97-111
    • Zweier, C.1    Thiel, C.T.2    Dufke, A.3
  • 10
    • 39049126590 scopus 로고    scopus 로고
    • Mowat-Wilson syndrome affecting 3 siblings
    • Ohtsuka M, Oguni H, Ito Y, et al. Mowat-Wilson syndrome affecting 3 siblings. J Child Neurol. 2008;23:274-278.
    • (2008) J Child Neurol. , vol.23 , pp. 274-278
    • Ohtsuka, M.1    Oguni, H.2    Ito, Y.3
  • 11
    • 77950857874 scopus 로고    scopus 로고
    • Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009
    • Berg AT, Berkovic SF, Brodie MJ, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia. 2010;5:676-685.
    • (2010) Epilepsia. , vol.5 , pp. 676-685
    • Berg, A.T.1    Berkovic, S.F.2    Brodie, M.J.3
  • 12
    • 0026580312 scopus 로고
    • The Denver II: A major revision and restandardization of Denver Developmental Screening Test
    • Frankenburg WK, Dodds JB, Archer P, et al. The Denver II: a major revision and restandardization of Denver Developmental Screening Test. Pediatrics. 1992;89:91-97.
    • (1992) Pediatrics. , vol.89 , pp. 91-97
    • Frankenburg, W.K.1    Dodds, J.B.2    Archer, P.3
  • 13
    • 34047235515 scopus 로고    scopus 로고
    • ZFHX1B mutations in patients with Mowat-Wilson Syndrome
    • Dastot-Le Moal F, Wilson M, Mowat D, et al. ZFHX1B mutations in patients with Mowat-Wilson Syndrome. Hum Mutat. 2007;28:313-321.
    • (2007) Hum Mutat. , vol.28 , pp. 313-321
    • Dastot-Le Moal, F.1    Wilson, M.2    Mowat, D.3
  • 15
    • 33845276285 scopus 로고    scopus 로고
    • Clinical features and management issues in Mowat-Wilson syndrome
    • Adam MP, Schelley S, Gallagher R, et al. Clinical features and management issues in Mowat-Wilson syndrome. Am J Med Genet. 2006;140:2730-2741.
    • (2006) Am J Med Genet. , vol.140 , pp. 2730-2741
    • Adam, M.P.1    Schelley, S.2    Gallagher, R.3
  • 16
    • 2342623334 scopus 로고    scopus 로고
    • Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1
    • Ishihara N, Yamada K, Yamada Y, et al. Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1. J Med Genet. 2004;4:387-393.
    • (2004) J Med Genet. , vol.4 , pp. 387-393
    • Ishihara, N.1    Yamada, K.2    Yamada, Y.3
  • 17
    • 10744220219 scopus 로고    scopus 로고
    • Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B
    • Wilson M, Mowat D, Dastot-Le Moal F, et al. Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B. Am J Med Genet. 2003;119:257-265.
    • (2003) Am J Med Genet. , vol.119 , pp. 257-265
    • Wilson, M.1    Mowat, D.2    Dastot-Le Moal, F.3
  • 18
    • 61749091117 scopus 로고    scopus 로고
    • Mowat-Wilson syndrome: Facial phenotype changing with age, study of 19 Italian patients and review of the literature
    • Garavelli L, Zollino M, Mainardi PC, et al. Mowat-Wilson syndrome: facial phenotype changing with age, study of 19 Italian patients and review of the literature. Am J Med Genet 2009;149:417-426.
    • (2009) Am J Med Genet , vol.149 , pp. 417-426
    • Garavelli, L.1    Zollino, M.2    Mainardi, P.C.3
  • 19
    • 84872913059 scopus 로고    scopus 로고
    • Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype
    • Cordelli DM, Garavelli L, Savasta S, et al. Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype. Am J Med Gene. 2013;161:273-284.
    • (2013) Am J Med Gene. , vol.161 , pp. 273-284
    • Cordelli, D.M.1    Garavelli, L.2    Savasta, S.3
  • 20
    • 84890517306 scopus 로고    scopus 로고
    • Mowat-Wilson syndrome: The first report of an association with central nervous system tumors
    • Valera ET, Ferraz ST, Brassesco MS, et al. Mowat-Wilson syndrome: the first report of an association with central nervous system tumors Childs Nerv Syst. 2013;29:2151-2155.
    • (2013) Childs Nerv Syst. , vol.29 , pp. 2151-2155
    • Valera, E.T.1    Ferraz, S.T.2    Brassesco, M.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.