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Items: 1 to 20 of 126

1.

A family with PTEN mutations with malignancy and an unusually high number of offspring with autism spectrum disorder: a case report.

Gruhl SL, Sharma P, Han TS.

J Med Case Rep. 2018 Nov 28;12(1):353. doi: 10.1186/s13256-018-1863-0.

2.

New mutation in the PTEN gene in a Brazilian patient with Cowden's syndrome.

Lima EU, Soares IC, Danilovic DL, Marui S.

Arq Bras Endocrinol Metabol. 2012 Nov;56(8):592-6.

PMID:
23295304
3.

Primary lung adenocarcinoma occurring in a PTEN related syndrome (Cowden's disease): routine EGFR sequencing also highlights two rare somatic mutations S768I and V769L.

Boespflug A, Couraud S, Bringuier PP, Isaac S, Gérinière L, Perrot E, Edery P, Durieu I, Souquet PJ.

Lung Cancer. 2013 Mar;79(3):318-20. doi: 10.1016/j.lungcan.2012.11.020. Epub 2012 Dec 20.

PMID:
23261230
4.

Autistic spectrum disorder in a 9-year-old girl with macrocephaly.

Stein MT, Elias ER, Saenz M, Pickler L, Reynolds A.

J Dev Behav Pediatr. 2010 Sep;31(7):632-4. doi: 10.1097/DBP.0b013e3181ef422a. Erratum in: J Dev Behav Pediatr. 2010 Nov-Dec;31(9):719.

PMID:
20814261
5.

Clinical Implications for Germline PTEN Spectrum Disorders.

Ngeow J, Sesock K, Eng C.

Endocrinol Metab Clin North Am. 2017 Jun;46(2):503-517. doi: 10.1016/j.ecl.2017.01.013. Epub 2017 Mar 18. Review.

PMID:
28476234
6.

Cowden's syndrome with immunodeficiency.

Browning MJ, Chandra A, Carbonaro V, Okkenhaug K, Barwell J.

J Med Genet. 2015 Dec;52(12):856-9. doi: 10.1136/jmedgenet-2015-103266. Epub 2015 Aug 5.

7.
8.

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
9.

A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.

Pradella LM, Evangelisti C, Ligorio C, Ceccarelli C, Neri I, Zuntini R, Amato LB, Ferrari S, Martelli AM, Gasparre G, Turchetti D.

BMC Cancer. 2014 Feb 6;14:70. doi: 10.1186/1471-2407-14-70.

10.

Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer.

Shuch B, Ricketts CJ, Vocke CD, Komiya T, Middelton LA, Kauffman EC, Merino MJ, Metwalli AR, Dennis P, Linehan WM.

J Urol. 2013 Dec;190(6):1990-8. doi: 10.1016/j.juro.2013.06.012. Epub 2013 Jun 11.

11.

Breast cancer risk and clinical implications for germline PTEN mutation carriers.

Ngeow J, Sesock K, Eng C.

Breast Cancer Res Treat. 2017 Aug;165(1):1-8. doi: 10.1007/s10549-015-3665-z. Epub 2015 Dec 23. Review.

PMID:
26700035
12.

Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.

Lynch ED, Ostermeyer EA, Lee MK, Arena JF, Ji H, Dann J, Swisshelm K, Suchard D, MacLeod PM, Kvinnsland S, Gjertsen BT, Heimdal K, Lubs H, Møller P, King MC.

Am J Hum Genet. 1997 Dec;61(6):1254-60.

13.

Mucocutaneous papillomatous papules in Cowden's syndrome.

Jornayvaz FR, Philippe J.

Clin Exp Dermatol. 2008 Mar;33(2):151-3. Epub 2007 Nov 15. Review.

PMID:
18021272
14.

Gastrointestinal polyposis with esophageal polyposis is useful for early diagnosis of Cowden's disease.

Umemura K, Takagi S, Ishigaki Y, Iwabuchi M, Kuroki S, Kinouchi Y, Shimosegawa T.

World J Gastroenterol. 2008 Oct 7;14(37):5755-9.

15.

Cowden's syndrome. Case report, with reference to an affected family.

Blanco V, Keochgerián V.

Med Oral Patol Oral Cir Bucal. 2006 Jan 1;11(1):E12-6. English, Spanish.

16.

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
17.

Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome.

Bennett KL, Mester J, Eng C.

JAMA. 2010 Dec 22;304(24):2724-31. doi: 10.1001/jama.2010.1877.

18.

Lhermitte-Duclos disease and Cowden's syndrome. Report of two cases.

Peltier J, Lok C, Fichten A, Bruniau A, Lefranc M, Toussaint P, Desenclos C, Le Gars D.

Neurochirurgie. 2006 Nov;52(5):407-14.

PMID:
17185946
19.

Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome.

Balci TB, Davila J, Lewis D, Boafo A, Sell E, Richer J, Nikkel SM, Armour CM, Tomiak E, Lines MA, Sawyer SL.

Am J Med Genet B Neuropsychiatr Genet. 2018 Jan;177(1):101-109. doi: 10.1002/ajmg.b.32610. Epub 2017 Nov 20.

PMID:
29152901
20.

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.

Yeung KS, Tso WWY, Ip JJK, Mak CCY, Leung GKC, Tsang MHY, Ying D, Pei SLC, Lee SL, Yang W, Chung BH.

Mol Autism. 2017 Dec 20;8:66. doi: 10.1186/s13229-017-0182-4. eCollection 2017.

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