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Results: 1 to 20 of 26

1.

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.

PMID:
15805158
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Cowden syndrome.

Gustafson S, Zbuk KM, Scacheri C, Eng C.

Semin Oncol. 2007 Oct;34(5):428-34. Review.

PMID:
17920899
[PubMed - indexed for MEDLINE]
3.

Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome.

Orloff MS, Eng C.

Oncogene. 2008 Sep 18;27(41):5387-97. doi: 10.1038/onc.2008.237. Review.

PMID:
18794875
[PubMed - indexed for MEDLINE]
4.

PTEN: one gene, many syndromes.

Eng C.

Hum Mutat. 2003 Sep;22(3):183-98. Review.

PMID:
12938083
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

Mutations of the human PTEN gene.

Bonneau D, Longy M.

Hum Mutat. 2000;16(2):109-22. Review.

PMID:
10923032
[PubMed - indexed for MEDLINE]
7.

Mucocutaneous neuromas: an underrecognized manifestation of PTEN hamartoma-tumor syndrome.

Schaffer JV, Kamino H, Witkiewicz A, McNiff JM, Orlow SJ.

Arch Dermatol. 2006 May;142(5):625-32. Review.

PMID:
16702501
[PubMed - indexed for MEDLINE]
8.

Constipation, polyps, or cancer? Let PTEN predict your future.

Eng C.

Am J Med Genet A. 2003 Nov 1;122A(4):315-22. Review.

PMID:
14518069
[PubMed - indexed for MEDLINE]
9.

Genetic disorders associated with macrocephaly.

Williams CA, Dagli A, Battaglia A.

Am J Med Genet A. 2008 Aug 1;146A(15):2023-37. doi: 10.1002/ajmg.a.32434. Review.

PMID:
18629877
[PubMed - indexed for MEDLINE]
10.

Genetic conditions associated with intestinal juvenile polyps.

Merg A, Howe JR.

Am J Med Genet C Semin Med Genet. 2004 Aug 15;129C(1):44-55. Review.

PMID:
15264272
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

PTEN hamartoma tumor syndrome: an overview.

Hobert JA, Eng C.

Genet Med. 2009 Oct;11(10):687-94. doi: 10.1097/GIM.0b013e3181ac9aea. Review.

PMID:
19668082
[PubMed - indexed for MEDLINE]
13.

Pten and the brain: sizing up social interaction.

Greer JM, Wynshaw-Boris A.

Neuron. 2006 May 4;50(3):343-5. Review.

PMID:
16675386
[PubMed - indexed for MEDLINE]
Free Article
14.

Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease.

Harada N, Sugimura T, Yoshimura R, Motomura S, Shirahama S, Naramoto J, Chijiiwa Y, Nakamura K, Ito K, Nawata H.

J Gastroenterol. 2003;38(1):87-91. Review.

PMID:
12560928
[PubMed - indexed for MEDLINE]
15.

Cowden syndrome: a critical review of the clinical literature.

Pilarski R.

J Genet Couns. 2009 Feb;18(1):13-27. doi: 10.1007/s10897-008-9187-7. Epub 2008 Oct 30. Review.

PMID:
18972196
[PubMed - indexed for MEDLINE]
16.

PTEN hamartoma tumor syndromes.

Blumenthal GM, Dennis PA.

Eur J Hum Genet. 2008 Nov;16(11):1289-300. doi: 10.1038/ejhg.2008.162. Epub 2008 Sep 10. Review.

PMID:
18781191
[PubMed - indexed for MEDLINE]
Free Article
17.

More than just a bump: the hamartoma syndromes.

Witman PM.

Adv Dermatol. 2006;22:157-80. Review.

PMID:
17249301
[PubMed - indexed for MEDLINE]
18.

Linear Cowden nevus: a new distinct epidermal nevus.

Happle R.

Eur J Dermatol. 2007 Mar-Apr;17(2):133-6. Epub 2007 Mar 2. Review.

PMID:
17337396
[PubMed - indexed for MEDLINE]
19.

Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.

Edelheit O, Hanukoglu I, Gizewska M, Kandemir N, Tenenbaum-Rakover Y, Yurdakök M, Zajaczek S, Hanukoglu A.

Clin Endocrinol (Oxf). 2005 May;62(5):547-53. Review.

PMID:
15853823
[PubMed - indexed for MEDLINE]
20.

Inherited macrocephaly-hamartoma syndromes.

DiLiberti JH.

Am J Med Genet. 1998 Oct 2;79(4):284-90. Review.

PMID:
9781909
[PubMed - indexed for MEDLINE]

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