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Items: 1 to 20 of 178

1.

PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes.

Kurek KC, Howard E, Tennant LB, Upton J, Alomari AI, Burrows PE, Chalache K, Harris DJ, Trenor CC 3rd, Eng C, Fishman SJ, Mulliken JB, Perez-Atayde AR, Kozakewich HP.

Am J Surg Pathol. 2012 May;36(5):671-87. doi: 10.1097/PAS.0b013e31824dd86c.

2.

PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol.

Piccione M, Fragapane T, Antona V, Giachino D, Cupido F, Corsello G.

Am J Med Genet A. 2013 Nov;161A(11):2902-8. doi: 10.1002/ajmg.a.36266. Epub 2013 Oct 7.

PMID:
24123798
3.

The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.

Tan WH, Baris HN, Burrows PE, Robson CD, Alomari AI, Mulliken JB, Fishman SJ, Irons MB.

J Med Genet. 2007 Sep;44(9):594-602. Epub 2007 May 25.

4.

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
5.

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
6.

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
7.

Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity.

Laury AR, Bongiovanni M, Tille JC, Kozakewich H, Nosé V.

Thyroid. 2011 Feb;21(2):135-44. doi: 10.1089/thy.2010.0226. Epub 2010 Dec 29.

PMID:
21190448
8.

Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes.

Pezzolesi MG, Li Y, Zhou XP, Pilarski R, Shen L, Eng C.

Am J Hum Genet. 2006 Nov;79(5):923-34. Epub 2006 Sep 29.

9.

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.

10.

Arteriovenous malformations in Cowden syndrome.

Turnbull MM, Humeniuk V, Stein B, Suthers GK.

J Med Genet. 2005 Aug;42(8):e50.

11.

Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome.

Cameselle-Teijeiro J, Fachal C, Cabezas-Agrícola JM, Alfonsín-Barreiro N, Abdulkader I, Vega-Gliemmo A, Hermo JA.

Am J Clin Pathol. 2015 Aug;144(2):322-8. doi: 10.1309/AJCP84INGJUVTBME.

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
13.

Colonic manifestations of PTEN hamartoma tumor syndrome: case series and systematic review.

Stanich PP, Pilarski R, Rock J, Frankel WL, El-Dika S, Meyer MM.

World J Gastroenterol. 2014 Feb 21;20(7):1833-8. doi: 10.3748/wjg.v20.i7.1833. Review.

14.

Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.

Caux F, Plauchu H, Chibon F, Faivre L, Fain O, Vabres P, Bonnet F, Selma ZB, Laroche L, Gérard M, Longy M.

Eur J Hum Genet. 2007 Jul;15(7):767-73. Epub 2007 Mar 28.

15.

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
16.

PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: would use of risk assessment tools reduce genetic testing?

Mester JL, Moore RA, Eng C.

Oncologist. 2013;18(10):1083-90. doi: 10.1634/theoncologist.2013-0174. Epub 2013 Sep 13.

17.

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.

Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk-Simonet E, David A, Edery P, Bottani A, Layet V, Caron O, Gilbert-Dussardier B, Delnatte C, Dugast C, Fricker JP, Bonneau D, Sevenet N, Longy M, Caux F; French Cowden Disease Network.

J Med Genet. 2013 Apr;50(4):255-63. doi: 10.1136/jmedgenet-2012-101339. Epub 2013 Jan 18.

PMID:
23335809
18.

Cowden syndrome.

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

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

PMID:
17920899
19.

Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.

Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E.

J Natl Cancer Inst. 2013 Nov 6;105(21):1607-16. doi: 10.1093/jnci/djt277. Epub 2013 Oct 17. Review.

20.

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.

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