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Results: 1 to 20 of 229

Similar articles for PubMed (Select 24580998)

1.

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.

2.

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.

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.

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.

5.

Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.

López-Hernández T, Ridder MC, Montolio M, Capdevila-Nortes X, Polder E, Sirisi S, Duarri A, Schulte U, Fakler B, Nunes V, Scheper GC, Martínez A, Estévez R, van der Knaap MS.

Am J Hum Genet. 2011 Apr 8;88(4):422-32. doi: 10.1016/j.ajhg.2011.02.009. Epub 2011 Mar 17.

6.

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.

7.

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
8.

Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy.

Conti S, Condò M, Posar A, Mari F, Resta N, Renieri A, Neri I, Patrizi A, Parmeggiani A.

J Child Neurol. 2012 Mar;27(3):392-7. doi: 10.1177/0883073811420296. Epub 2011 Sep 29. Review.

PMID:
21960672
9.

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
10.

Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.

Orrico A, Galli L, Buoni S, Orsi A, Vonella G, Sorrentino V.

Clin Genet. 2009 Feb;75(2):195-8. doi: 10.1111/j.1399-0004.2008.01074.x. Epub 2008 Aug 26.

PMID:
18759867
11.

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
12.

Somatic overgrowth predisposes to seizures in autism spectrum disorders.

Valvo G, Baldini S, Brachini F, Apicella F, Cosenza A, Ferrari AR, Guerrini R, Muratori F, Romano MF, Santorelli FM, Tancredi R, Sicca F.

PLoS One. 2013 Sep 23;8(9):e75015. doi: 10.1371/journal.pone.0075015. eCollection 2013.

13.

Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay.

Lynch NE, Lynch SA, McMenamin J, Webb D.

Arch Dis Child. 2009 Jul;94(7):553-4. doi: 10.1136/adc.2008.155663. Epub 2009 Mar 25.

PMID:
19321504
14.

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.

15.

Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly.

Buxbaum JD, Cai G, Nygren G, Chaste P, Delorme R, Goldsmith J, Råstam M, Silverman JM, Hollander E, Gillberg C, Leboyer M, Betancur C.

BMC Med Genet. 2007 Nov 14;8:68.

16.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
17.

Clinical and laboratory data in a sample of Greek children with autism spectrum disorders.

Ververi A, Vargiami E, Papadopoulou V, Tryfonas D, Zafeiriou DI.

J Autism Dev Disord. 2012 Jul;42(7):1470-6. doi: 10.1007/s10803-011-1414-7.

PMID:
22146932
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.

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.

PMID:
24375884
20.

Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counseling.

Busa T, Chabrol B, Perret O, Longy M, Philip N.

Gene. 2013 Jan 10;512(2):194-7. doi: 10.1016/j.gene.2012.09.134. Epub 2012 Nov 2.

PMID:
23124040
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