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Items: 1 to 20 of 116

1.

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.

2.

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.

3.

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
4.

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
5.

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.

6.

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.

Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW.

J Med Genet. 2011 Aug;48(8):505-12. doi: 10.1136/jmg.2011.088807. Epub 2011 Jun 9.

PMID:
21659347
7.

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

Longy M, Coulon V, Duboué B, David A, Larrègue M, Eng C, Amati P, Kraimps JL, Bottani A, Lacombe D, Bonneau D.

J Med Genet. 1998 Nov;35(11):886-9.

8.

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
10.

Muscle hemangiomatosis presenting as a severe feature in a patient with the pten mutation: expanding the phenotype of vascular malformations in bannayan-riley-ruvalcaba syndrome.

Soysal Y, Acun T, Lourenço C, Marques W Jr, Yakıcıer M.

Balkan J Med Genet. 2012 Jun;15(1):45-50. doi: 10.2478/v10034-012-0007-x.

11.

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
12.

Brain magnetic resonance imaging in patients with Cowden syndrome.

Lok C, Viseux V, Avril MF, Richard MA, Gondry-Jouet C, Deramond H, Desfossez-Tribout C, Courtade S, Delaunay M, Piette F, Legars D, Dreno B, Saïag P, Longy M, Lorette G, Laroche L, Caux F; Cancerology Group of the French Society of Dermatology.

Medicine (Baltimore). 2005 Mar;84(2):129-36.

13.

Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report.

Jenny B, Radovanovic I, Haenggeli CA, Delavelle J, Rüfenacht D, Kaelin A, Blouin JL, Bottani A, Rilliet B.

J Neurosurg. 2007 Oct;107(4 Suppl):307-13.

PMID:
17941496
14.

Arteriovenous malformations in Cowden syndrome.

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

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

15.

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.

16.

Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view.

van der Velden JJ, Vreeburg M, Smeets EE, Schrander-Stumpel CT, van Steensel MA.

Int J Dermatol. 2008 Nov;47 Suppl 1:45-8. doi: 10.1111/j.1365-4632.2008.03960.x.

PMID:
18986487
17.

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.

18.

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
19.

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
20.

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.

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