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Items: 1 to 20 of 84

1.

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.

PMID:
18759867
2.

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.

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.

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
5.

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
6.

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.

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.

9.

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.

PMID:
19321504
10.

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. Review.

PMID:
21960672
11.

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM Jr, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C, et al.

Hum Mol Genet. 1999 Aug;8(8):1461-72.

12.

Brothers with germline PTEN mutations and persistent hypoglycemia, macrocephaly, developmental delay, short stature, and coagulopathy.

Granados A, Eng C, Diaz A.

J Pediatr Endocrinol Metab. 2013;26(1-2):137-41. doi: 10.1515/jpem-2012-0227.

PMID:
23382303
13.

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.

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.

PMID:
25549896
15.

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.

PMID:
23124040
16.

A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.

Rodríguez-Escudero I, Oliver MD, Andrés-Pons A, Molina M, Cid VJ, Pulido R.

Hum Mol Genet. 2011 Nov 1;20(21):4132-42. doi: 10.1093/hmg/ddr337.

17.

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR.

J Med Genet. 2010 May;47(5):332-41. doi: 10.1136/jmg.2009.073015.

18.

Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Spinelli L, Black FM, Berg JN, Eickholt BJ, Leslie NR.

J Med Genet. 2015 Feb;52(2):128-34. doi: 10.1136/jmedgenet-2014-102803.

19.

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.

20.

Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases.

Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH.

Fam Cancer. 2003;2(2):79-85.

PMID:
14574156
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