Citations for
1MCAUTS, PTEN
Autism-specific PTEN p.Ile135Leu variant and an autism genetic background combine to dysregulate cortical neurogenesis
Fu S, Bury LAD, Eum J, Wynshaw-Boris A.
Am J Hum Genet. May 4;110(5):826-845. doi: 10.1016/j.ajhg.2023.03.015. Epub 2023 Apr 24. 2023
2MCAUTS, PTEN
Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer.
Smith IN, Thacker S, Seyfi M, Cheng F, Eng C.
Am J Hum Genet 104(5):861-878. doi: 10.1016/j.ajhg.2019.03.009. Epub 2019 Apr 18. 2019
3MCAUTS, MHAM, PTEN
Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome.
Yehia L, Ni Y, Feng F, Seyfi M, Sadler T, Frazier TW, Eng C.
Am J Hum Genet 105(4):813-821. doi: 10.1016/j.ajhg.2019.09.004. Epub 2019 Sep 26. 2019
4AKT3, BRWD3, CLOVES, DNMT3A, DNMT3OGS, EZH2, GPC3, HIST1H1E, MCAUTS, MPPH2, MRD35, MRX93, MSMR, MSMS, MTOR, NFIX, NSD1, OGID1, PIK3CA, PPP2R5D, PTEN, SGBS, STOL1, WVSS1, WVSS2
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, Elliott A, Wylie H, Ardissone A, Rittinger O, Stewart F, Temple IK, Cole T; Childhood Overgrowth Collaboration, Mahamdallie S, Seal S, Ruark E, Rahman N.
Am J Hum Genet 100(5):725-736. doi: 10.1016/j.ajhg.2017.03.010. 2017
5MCAUTS, PTEN
Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.
Orrico A, Galli L, Buoni S, Orsi A, Vonella G, Sorrentino V.
Clin Genet 75(2):195-8. Epub 2008 Aug 26. 2009
6MCAUTS, PTEN
1: The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
Varga EA, Pastore M, Prior T, Herman GE, McBride KL.
Genet Med 11(2):111-7. 2009
7MCAUTS, PTEN
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
Varga EA, Pastore M, Prior T, Herman GE, McBride KL.
Genet Med 11(2):111-7. 2009
8MCAUTS, PTEN
Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.
Herman GE, Butter E, Enrile B, Pastore M, Prior TW, Sommer A.
Am J Med Genet A 143(6):589-93. 2007
9MCAUTS, PTEN
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.
Buxbaum JD, Cai G, Chaste P, Nygren G, Goldsmith J, Reichert J, Anckarsäter H, Rastam M, Smith CJ, Silverman JM, Hollander E, Leboyer M, Gillberg C, Verloes A, Betancur C.
Am J Med Genet B Neuropsychiatr Genet 144B(4):484-91. 2007
10MCAUTS
Advances in autism neuroimaging research for the clinician and geneticist.
Lainhart JE.
Am J Med Genet C Semin Med Genet 142(1):33-9. Review. 2006
11PTEN, MCAUTS
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN, Miles JH, Wang CH, Stratton R, Pilarski R, Eng C.
J Med Genet 42(4):318-21. 2005