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Items: 1 to 20 of 105

1.

Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.

Hobert JA, Embacher R, Mester JL, Frazier TW 2nd, Eng C.

Eur J Hum Genet. 2014 Feb;22(2):273-6. doi: 10.1038/ejhg.2013.114. Epub 2013 May 22.

2.

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.

Marchese M, Conti V, Valvo G, Moro F, Muratori F, Tancredi R, Santorelli FM, Guerrini R, Sicca F.

BMC Med Genet. 2014 Feb 27;15:26. doi: 10.1186/1471-2350-15-26.

3.

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. 2007 Jun 5;144B(4):484-91.

4.

Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model.

Mester JL, Tilot AK, Rybicki LA, Frazier TW 2nd, Eng C.

Eur J Hum Genet. 2011 Jul;19(7):763-8. doi: 10.1038/ejhg.2011.20. Epub 2011 Feb 23.

5.

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J.

Science. 2012 Dec 21;338(6114):1619-22. doi: 10.1126/science.1227764. Epub 2012 Nov 15.

6.

Macrocephaly as a clinical indicator of genetic subtypes in autism.

Klein S, Sharifi-Hannauer P, Martinez-Agosto JA.

Autism Res. 2013 Feb;6(1):51-6. doi: 10.1002/aur.1266. Epub 2013 Jan 29.

7.

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. 2005 Apr;42(4):318-21.

8.

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. 2009 Feb;11(2):111-7. doi: 10.1097/GIM.0b013e31818fd762.

PMID:
19265751
9.

PTEN signaling in autism spectrum disorders.

Zhou J, Parada LF.

Curr Opin Neurobiol. 2012 Oct;22(5):873-9. doi: 10.1016/j.conb.2012.05.004. Epub 2012 Jun 2. Review.

PMID:
22664040
10.

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

Vanderver A, Tonduti D, Kahn I, Schmidt J, Medne L, Vento J, Chapman KA, Lanpher B, Pearl P, Gropman A, Lourenco C, Bamforth JS, Sharpe C, Pineda M, Schallner J, Bodamer O, Orcesi S, Oberstein SA, Sistermans EA, Yntema HG, Bonnemann C, Waldman AT, van der Knaap MS.

Am J Med Genet A. 2014 Mar;164A(3):627-33. doi: 10.1002/ajmg.a.36309. Epub 2013 Dec 20.

11.

Neurodevelopmental disorders in children with macrocephaly: A prevalence study and PTEN gene analysis.

Kurata H, Shirai K, Saito Y, Okazaki T, Ohno K, Oguri M, Adachi K, Nanba E, Maegaki Y.

Brain Dev. 2017 Jul 31. pii: S0387-7604(17)30188-2. doi: 10.1016/j.braindev.2017.07.005. [Epub ahead of print]

PMID:
28774669
12.

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.

McBride KL, Varga EA, Pastore MT, Prior TW, Manickam K, Atkin JF, Herman GE.

Autism Res. 2010 Jun;3(3):137-41. doi: 10.1002/aur.132.

PMID:
20533527
13.

Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism.

Frazier TW, Embacher R, Tilot AK, Koenig K, Mester J, Eng C.

Mol Psychiatry. 2015 Sep;20(9):1132-8. doi: 10.1038/mp.2014.125. Epub 2014 Oct 7.

14.

Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome.

Busa T, Milh M, Degardin N, Girard N, Sigaudy S, Longy M, Olshchwang S, Sobol H, Chabrol B, Philip N.

Eur J Paediatr Neurol. 2015 Mar;19(2):188-92. doi: 10.1016/j.ejpn.2014.11.012. Epub 2014 Dec 16.

PMID:
25549896
15.

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. 2007 Mar 15;143A(6):589-93.

PMID:
17286265
16.

Head circumferences in twins with and without Autism Spectrum Disorders.

Froehlich W, Cleveland S, Torres A, Phillips J, Cohen B, Torigoe T, Miller J, Fedele A, Collins J, Smith K, Lotspeich L, Croen LA, Ozonoff S, Lajonchere C, Grether JK, Hallmayer J.

J Autism Dev Disord. 2013 Sep;43(9):2026-37. doi: 10.1007/s10803-012-1751-1.

17.

Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.

Hobert JA, Mester JL, Moline J, Eng C.

Genet Med. 2012 Jun;14(6):616-9. doi: 10.1038/gim.2011.63. Epub 2012 Jan 26.

18.

Genetic testing in autism: how much is enough?

Herman GE, Henninger N, Ratliff-Schaub K, Pastore M, Fitzgerald S, McBride KL.

Genet Med. 2007 May;9(5):268-74.

PMID:
17505203
19.

Frequency of germline PTEN mutations in differentiated thyroid cancer.

Nagy R, Ganapathi S, Comeras I, Peterson C, Orloff M, Porter K, Eng C, Ringel MD, Kloos RT.

Thyroid. 2011 May;21(5):505-10. doi: 10.1089/thy.2010.0365. Epub 2011 Mar 21.

20.

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.

Jansen LA, Mirzaa GM, Ishak GE, O'Roak BJ, Hiatt JB, Roden WH, Gunter SA, Christian SL, Collins S, Adams C, Rivière JB, St-Onge J, Ojemann JG, Shendure J, Hevner RF, Dobyns WB.

Brain. 2015 Jun;138(Pt 6):1613-28. doi: 10.1093/brain/awv045. Epub 2015 Feb 25.

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