메뉴 건너뛰기




Volumn 6, Issue 1, 2013, Pages 51-56

Macrocephaly as a clinical indicator of genetic subtypes in autism

Author keywords

Autism; Hypotonia; Macrocephaly; Overgrowth; PTEN

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

EID: 84874097245     PISSN: 19393792     EISSN: 19393806     Source Type: Journal    
DOI: 10.1002/aur.1266     Document Type: Article
Times cited : (66)

References (31)
  • 1
    • 77956503087 scopus 로고    scopus 로고
    • Dissecting the clinical heterogeneity of autism spectrum disorders through defined genotypes
    • Bruining, H., de Sonneville, L., Swaab, H., de Jonge, M., Kas, M., etal. (2010). Dissecting the clinical heterogeneity of autism spectrum disorders through defined genotypes. PLoS ONE, 5, e10887.
    • (2010) PLoS ONE , vol.5
    • Bruining, H.1    de Sonneville, L.2    de Swaab, H.3    Jonge, M.4    Kas, M.5
  • 2
    • 56749154242 scopus 로고    scopus 로고
    • Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
    • Brunetti-Pierri, N., Berg, J.S., Scaglia, F., Belmont, J., Bacino, C.A., etal. (2008). Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nature Genetics, 40, 1466-1471.
    • (2008) Nature Genetics , vol.40 , pp. 1466-1471
    • Brunetti-Pierri, N.1    Berg, J.S.2    Scaglia, F.3    Belmont, J.4    Bacino, C.A.5
  • 3
    • 20244367771 scopus 로고    scopus 로고
    • Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations
    • Butler, M.G., Dasouki, M.J., Zhou, X.P., Talebizadeh, Z., Brown, M., etal. (2005). Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. Journal of Medical Genetics, 42, 318-321.
    • (2005) Journal of Medical Genetics , vol.42 , pp. 318-321
    • Butler, M.G.1    Dasouki, M.J.2    Zhou, X.P.3    Talebizadeh, Z.4    Brown, M.5
  • 7
    • 0038601952 scopus 로고    scopus 로고
    • Evidence of brain overgrowth in the first year of life in autism
    • Courchesne, E., Carper, R., & Akshoomoff, N. (2003). Evidence of brain overgrowth in the first year of life in autism. JAMA, 290, 337-344.
    • (2003) JAMA , vol.290 , pp. 337-344
    • Courchesne, E.1    Carper, R.2    Akshoomoff, N.3
  • 8
    • 79960627779 scopus 로고    scopus 로고
    • An autism-associated point mutation in the neuroligin cytoplasmic tail selectively impairs AMPA receptor-mediated synaptic transmission in hippocampus
    • Etherton, M.R., Tabuchi, K., Sharma, M., Ko, J., & Sudhof, T.C. (2011). An autism-associated point mutation in the neuroligin cytoplasmic tail selectively impairs AMPA receptor-mediated synaptic transmission in hippocampus. EMBO Journal, 30, 2908-2919.
    • (2011) EMBO Journal , vol.30 , pp. 2908-2919
    • Etherton, M.R.1    Tabuchi, K.2    Sharma, M.3    Ko, J.4    Sudhof, T.C.5
  • 9
    • 76249116225 scopus 로고    scopus 로고
    • Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
    • Giannandrea, M., Bianchi, V., Mignogna, M.L., Sirri, A., Carrabino, S., etal. (2010). Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. American Journal of Human Genetics, 86, 185-195.
    • (2010) American Journal of Human Genetics , vol.86 , pp. 185-195
    • Giannandrea, M.1    Bianchi, V.2    Mignogna, M.L.3    Sirri, A.4    Carrabino, S.5
  • 12
    • 70350238781 scopus 로고    scopus 로고
    • PTEN hamartoma tumor syndrome: An overview
    • Hobert, J.A., & Eng, C. (2009). PTEN hamartoma tumor syndrome: An overview. Genetics in Medicine, 11, 687-694.
    • (2009) Genetics in Medicine , vol.11 , pp. 687-694
    • Hobert, J.A.1    Eng, C.2
  • 13
    • 79955694024 scopus 로고    scopus 로고
    • Novel autism subtype-dependent genetic variants are revealed by quantitative trait and subphenotype association analyses of published GWAS data
    • Hu, V.W., Addington, A., & Hyman, A. (2011). Novel autism subtype-dependent genetic variants are revealed by quantitative trait and subphenotype association analyses of published GWAS data. PLoS ONE, 6, e19067.
    • (2011) PLoS ONE , vol.6
    • Hu, V.W.1    Addington, A.2    Hyman, A.3
  • 14
    • 79952222339 scopus 로고    scopus 로고
    • Identification of candidate genes of autism on the basis of molecular cytogenetic and in silico studies of the genome organization of chromosomal regions involved in unbalanced rearrangements
    • Iurov, I., Vorsanova, S.G., Saprina, E.A., & Iurov Iu, B. (2010). Identification of candidate genes of autism on the basis of molecular cytogenetic and in silico studies of the genome organization of chromosomal regions involved in unbalanced rearrangements. Genetika, 46, 1348-1351.
    • (2010) Genetika , vol.46 , pp. 1348-1351
    • Iurov, I.1    Vorsanova, S.G.2    Saprina, E.A.3    Iurov Iu, B.4
  • 15
    • 77950860862 scopus 로고    scopus 로고
    • Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series
    • Jaillard, S., Drunat, S., Bendavid, C., Aboura, A., Etcheverry, A., etal. (2010). Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series. European Journal of Medical Genetics, 53, 66-75.
    • (2010) European Journal of Medical Genetics , vol.53 , pp. 66-75
    • Jaillard, S.1    Drunat, S.2    Bendavid, C.3    Aboura, A.4    Etcheverry, A.5
  • 16
    • 0000984981 scopus 로고
    • Autistic disturbances of affective contact
    • Kanner, L. (1943). Autistic disturbances of affective contact. Nervous Child, 2, 217-250.
    • (1943) Nervous Child , vol.2 , pp. 217-250
    • Kanner, L.1
  • 17
    • 0014375651 scopus 로고
    • Autistic disturbances of affective contact
    • Kanner, L. (1968). Autistic disturbances of affective contact. Acta Paedopsychiatrica, 35, 100-136.
    • (1968) Acta Paedopsychiatrica , vol.35 , pp. 100-136
    • Kanner, L.1
  • 19
    • 79953681874 scopus 로고    scopus 로고
    • Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism
    • Lopez-Hernandez, T., Ridder, M.C., Montolio, M., Capdevila-Nortes, X., Polder, E., etal. (2011). Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. American Journal of Human Genetics, 88, 422-432.
    • (2011) American Journal of Human Genetics , vol.88 , pp. 422-432
    • Lopez-Hernandez, T.1    Ridder, M.C.2    Montolio, M.3    Capdevila-Nortes, X.4    Polder, E.5
  • 20
    • 78649635514 scopus 로고    scopus 로고
    • Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
    • Manning, M., & Hudgins, L. (2010). Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genetics in Medicine, 12, 742-745.
    • (2010) Genetics in Medicine , vol.12 , pp. 742-745
    • Manning, M.1    Hudgins, L.2
  • 21
    • 77955626857 scopus 로고    scopus 로고
    • Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly
    • McBride, K.L., Varga, E.A., Pastore, M.T., Prior, T.W., Manickam, K., etal. (2010). Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. Autism Research, 3, 137-141.
    • (2010) Autism Research , vol.3 , pp. 137-141
    • McBride, K.L.1    Varga, E.A.2    Pastore, M.T.3    Prior, T.W.4    Manickam, K.5
  • 22
    • 79959270685 scopus 로고    scopus 로고
    • Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model
    • Mester, J.L., Tilot, A.K., Rybicki, L.A., Frazier, T.W., 2nd, & Eng, C. (2011). Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model. European Journal of Human Genetics, 19, 763-768.
    • (2011) European Journal of Human Genetics , vol.19 , pp. 763-768
    • Mester, J.L.1    Tilot, A.K.2    Rybicki, L.A.3    Frazier 2nd, T.W.4    Eng, C.5
  • 25
    • 0033836272 scopus 로고    scopus 로고
    • Cole-Hughes macrocephaly syndrome and associated autistic manifestations
    • Naqvi, S., Cole, T., & Graham, J.M., Jr. (2000). Cole-Hughes macrocephaly syndrome and associated autistic manifestations. American Journal of Medical Genetics, 94, 149-152.
    • (2000) American Journal of Medical Genetics , vol.94 , pp. 149-152
    • Naqvi, S.1    Cole, T.2    Graham Jr., J.M.3
  • 26
    • 77952287613 scopus 로고    scopus 로고
    • United States head circumference growth reference charts: Birth to 21 years
    • 913 e1-2.
    • Rollins, J.D., Collins, J.S., & Holden, K.R. (2010). United States head circumference growth reference charts: Birth to 21 years. Journal of Pediatrics, 156, 907-913, 913 e1-2.
    • (2010) Journal of Pediatrics , vol.156 , pp. 907-913
    • Rollins, J.D.1    Collins, J.S.2    Holden, K.R.3
  • 27
    • 78649634946 scopus 로고    scopus 로고
    • Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders
    • Rosenfeld, J.A., Ballif, B.C., Torchia, B.S., Sahoo, T., Ravnan, J.B., etal. (2010). Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Genetics in Medicine, 12, 694-702.
    • (2010) Genetics in Medicine , vol.12 , pp. 694-702
    • Rosenfeld, J.A.1    Ballif, B.C.2    Torchia, B.S.3    Sahoo, T.4    Ravnan, J.B.5
  • 28
    • 77950564908 scopus 로고    scopus 로고
    • Clinical genetic testing for patients with autism spectrum disorders
    • Shen, Y., Dies, K.A., Holm, I.A., Bridgemohan, C., Sobeih, M.M., etal. (2010). Clinical genetic testing for patients with autism spectrum disorders. Pediatrics, 125, e727-e735.
    • (2010) Pediatrics , vol.125
    • Shen, Y.1    Dies, K.A.2    Holm, I.A.3    Bridgemohan, C.4    Sobeih, M.M.5
  • 30
    • 32844460507 scopus 로고    scopus 로고
    • Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism
    • 18-28.
    • Vorstman, J.A., Staal, W.G., van Daalen, E., van Engeland, H., Hochstenbach, P.F., & Franke, L. (2006). Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Molecular Psychiatry, 11, 1, 18-28.
    • (2006) Molecular Psychiatry , vol.11 , pp. 1
    • Vorstman, J.A.1    van Staal, W.G.2    van Daalen, E.3    Engeland, H.4    Hochstenbach, P.F.5    Franke, L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.