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Items: 1 to 20 of 140

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.

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
4.

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
5.

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.

6.

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.

PMID:
26185318
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
8.

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.

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.

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
11.

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.

12.

Arteriovenous malformations in Cowden syndrome.

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

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

13.

Increased prevalence of eosinophilic gastrointestinal disorders in pediatric PTEN hamartoma tumor syndromes.

Henderson CJ, Ngeow J, Collins MH, Martin LJ, Putnam PE, Abonia JP, Marsolo K, Eng C, Rothenberg ME.

J Pediatr Gastroenterol Nutr. 2014 May;58(5):553-60. doi: 10.1097/MPG.0000000000000253.

14.

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
15.

Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?

Saletti V, Esposito S, Maccaro A, Giglio S, Valentini LG, Chiapparini L.

Eur J Med Genet. 2017 May;60(5):261-264. doi: 10.1016/j.ejmg.2017.03.002. Epub 2017 Mar 7.

PMID:
28286253
16.

PTEN hamartoma tumor syndrome.

Mester J, Charis E.

Handb Clin Neurol. 2015;132:129-37. doi: 10.1016/B978-0-444-62702-5.00009-3. Review.

PMID:
26564076
17.

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.

18.

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.

19.

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
20.

Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome.

Anusic S, Clemens RK, Meier TO, Amann-Vesti BR.

BMJ Case Rep. 2016 Jun 29;2016. pii: bcr2016215188. doi: 10.1136/bcr-2016-215188.

PMID:
27358095

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