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Volumn 20, Issue 1, 2011, Pages 38-41

Nicolaides-Baraitser syndrome: Two new cases with autism spectrum disorder

Author keywords

autism spectrum disorder; interphalangeal swelling; mental retardation; Nicolaides Baraitser syndrome; short stature; sparse hair; triangular face

Indexed keywords

ANTICONVULSIVE AGENT;

EID: 78650790655     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32833edaa9     Document Type: Article
Times cited : (7)

References (20)
  • 1
    • 0004235298 scopus 로고
    • American Psychiatric Association American Psychiatric Association Washington
    • American Psychiatric Association (1994). Diagnostic and statistical manual of mental disorders. Washington: American Psychiatric Association.
    • (1994) Diagnostic and Statistical Manual of Mental Disorders
  • 2
    • 53349154689 scopus 로고    scopus 로고
    • Biotin-responsive disorders
    • In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH, editors. 4th ed. Heidelberg, Germany: Springer
    • Baumgartner MR, Suormala T (2006). Biotin-responsive disorders. In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH, editors. Inborn metabolic diseases. 4th ed. Heidelberg, Germany: Springer. pp. 331-339.
    • (2006) Inborn Metabolic Diseases , pp. 331-339
    • Baumgartner, M.R.1    Suormala, T.2
  • 3
    • 0029967022 scopus 로고    scopus 로고
    • Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype
    • Bielanska MM, Khalifa MM, Duncan AM (1996). Pallister-Killian syndrome: a mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype. Am J Med Genet 65:104-108.
    • (1996) Am J Med Genet , vol.65 , pp. 104-108
    • Bielanska, M.M.1    Khalifa, M.M.2    Duncan, A.M.3
  • 5
    • 0033837083 scopus 로고    scopus 로고
    • Practice parameter: screening and diagnosis of autism: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society
    • Filipek PA, Accardo PJ, Ashwal S, Baranek GT, Cook EH Jr, Dawson G, et al. (2000). Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology 55:468-479.
    • (2000) Neurology , vol.55 , pp. 468-479
    • Filipek, P.A.1    Accardo, P.J.2    Ashwal, S.3    Baranek, G.T.4    Cook Jr., E.H.5    Dawson, G.6
  • 6
    • 0035866023 scopus 로고    scopus 로고
    • Coffin-Siris syndrome: Review and presentation of new cases from a questionnaire study
    • Fleck BJ, Pandya A, Vanner L, Kerkering K, Bodurtha J (2001). Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. Am J Med Genet 99:1-7.
    • (2001) Am J Med Genet , vol.99 , pp. 1-7
    • Fleck, B.J.1    Pandya, A.2    Vanner, L.3    Kerkering, K.4    Bodurtha, J.5
  • 8
    • 0033927947 scopus 로고    scopus 로고
    • Autism and intellectual disability: Diagnostic and treatment issues
    • Howlin P (2000). Autism and intellectual disability: diagnostic and treatment issues. J Royal Soc Med 93:351-355.
    • (2000) J Royal Soc Med , vol.93 , pp. 351-355
    • Howlin, P.1
  • 9
    • 0035010089 scopus 로고    scopus 로고
    • Trichothiodystrophy: Update on the sulfur-deficient brittle hair syndromes
    • Itin PH, Sarasin A, Pittelkow MR (2001). Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes. J Am Acad Dermatol 44:891-920.
    • (2001) J Am Acad Dermatol , vol.44 , pp. 891-920
    • Itin, P.H.1    Sarasin, A.2    Pittelkow, M.R.3
  • 10
  • 11
    • 1842855895 scopus 로고    scopus 로고
    • Autism and intellectual disability: A study of prevalence on a sample of the Italian population
    • La Malfa G, Lassi S, Bertelli M, Salvini R, Placidi GF (2004). Autism and intellectual disability: a study of prevalence on a sample of the Italian population. J Intellect Disabil Res 48:262-267.
    • (2004) J Intellect Disabil Res , vol.48 , pp. 262-267
    • La Malfa, G.1    Lassi, S.2    Bertelli, M.3    Salvini, R.4    Placidi, G.F.5
  • 12
    • 0027997172 scopus 로고
    • Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
    • Lord C, Rutter M, Le Couteur A (1994). Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 24:659-685.
    • (1994) J Autism Dev Disord , vol.24 , pp. 659-685
    • Lord, C.1    Rutter, M.2    Le Couteur, A.3
  • 13
    • 0142043960 scopus 로고    scopus 로고
    • Nicolaides-Baraitser syndrome: Confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals
    • Morin G, Villemain L, Baumann C, Mathieu M, Blanc N, Verloes A (2003). Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals. Clin Dysmorphol 12:237-240.
    • (2003) Clin Dysmorphol , vol.12 , pp. 237-240
    • Morin, G.1    Villemain, L.2    Baumann, C.3    Mathieu, M.4    Blanc, N.5    Verloes, A.6
  • 15
    • 0027275531 scopus 로고
    • An unusual syndrome with mental retardation and sparse hair
    • Nicolaides P, Baraitser M (1993). An unusual syndrome with mental retardation and sparse hair. Clin Dysmorphol 2:232-236.
    • (1993) Clin Dysmorphol , vol.2 , pp. 232-236
    • Nicolaides, P.1    Baraitser, M.2
  • 20
    • 0038682743 scopus 로고    scopus 로고
    • Mental retardation, sparse hair, facial dysmorphism with a prominent lower lip, and lipodystrophy. A variant example of Nicolaides-Baraitser syndrome?
    • Witters I, Fryns JP (2003). Mental retardation, sparse hair, facial dysmorphism with a prominent lower lip, and lipodystrophy. A variant example of Nicolaides-Baraitser syndrome? Genet Couns 14:245-247.
    • (2003) Genet Couns , vol.14 , pp. 245-247
    • Witters, I.1    Fryns, J.P.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.