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Year Number of Results
1965 1
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1994 2
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2007 4
2008 4
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132 results

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Page 1
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. Pilarski R, et al. J Natl Cancer Inst. 2013 Nov 6;105(21):1607-16. doi: 10.1093/jnci/djt277. Epub 2013 Oct 17. J Natl Cancer Inst. 2013. PMID: 24136893 Review.
BACKGROUND: PTEN hamartoma tumor syndrome (PHTS) refers to a spectrum of disorders caused by mutations in the phosphatase and tensin homolog (PTEN) gene. ...
BACKGROUND: PTEN hamartoma tumor syndrome (PHTS) refers to a spectrum of disorders caused by mutations in the phosphatase and tensin …
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
Mighell TL, Evans-Dutson S, O'Roak BJ. Mighell TL, et al. Am J Hum Genet. 2018 May 3;102(5):943-955. doi: 10.1016/j.ajhg.2018.03.018. Epub 2018 Apr 26. Am J Hum Genet. 2018. PMID: 29706350 Free PMC article.
Germline PTEN mutations are also associated with a range of clinical outcomes, including PTEN hamartoma tumor syndrome (PHTS) and autism spectrum disorder (ASD). ...
Germline PTEN mutations are also associated with a range of clinical outcomes, including PTEN hamartoma tumor syndrome (PHTS) and aut …
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.
Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung MY, Whittemore VH, King TM, Northrup H. Au KS, et al. Genet Med. 2007 Feb;9(2):88-100. doi: 10.1097/gim.0b013e31803068c7. Genet Med. 2007. PMID: 17304050 Free article.
Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder marked by hamartoma growth in multiple organ systems. We performed mutational analyses on 325 individuals with definite tuberous sclerosis complex diagnostic status. ...
Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder marked by hamartoma growth in multiple organ systems. We …
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.
Hendricks LAJ, Hoogerbrugge N, Venselaar H, Aretz S, Spier I, Legius E, Brems H, de Putter R, Claes KBM, Evans DG, Woodward ER, Genuardi M, Brugnoletti F, van Ierland Y, Dijke K, Tham E, Tesi B, Schuurs-Hoeijmakers JHM, Branchaud M, Salvador H, Jahn A, Schnaiter S, Anastasiadou VC, Brunet J, Oliveira C, Roht L, Blatnik A, Irmejs A; PTEN Study Group; Mensenkamp AR, Vos JR. Hendricks LAJ, et al. Eur J Med Genet. 2022 Dec;65(12):104632. doi: 10.1016/j.ejmg.2022.104632. Epub 2022 Oct 18. Eur J Med Genet. 2022. PMID: 36270489 Free article.
BACKGROUND: Pathogenic PTEN germline variants cause PTEN Hamartoma Tumor Syndrome (PHTS), a rare disease with a variable genotype and phenotype. Knowledge about these spectra and genotype-phenotype associations could help diagnostics and potentially lead to personalized …
BACKGROUND: Pathogenic PTEN germline variants cause PTEN Hamartoma Tumor Syndrome (PHTS), a rare disease with a variable genotype and …
Management of benign liver tumors.
Fuchs J, Warmann SW, Urla C, Schäfer JF, Schmidt A. Fuchs J, et al. Semin Pediatr Surg. 2020 Aug;29(4):150941. doi: 10.1016/j.sempedsurg.2020.150941. Epub 2020 Jul 24. Semin Pediatr Surg. 2020. PMID: 32861445 Review.
Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood.
Achatz MI, Porter CC, Brugières L, Druker H, Frebourg T, Foulkes WD, Kratz CP, Kuiper RP, Hansford JR, Hernandez HS, Nathanson KL, Kohlmann WK, Doros L, Onel K, Schneider KW, Scollon SR, Tabori U, Tomlinson GE, Evans DGR, Plon SE. Achatz MI, et al. Clin Cancer Res. 2017 Jul 1;23(13):e107-e114. doi: 10.1158/1078-0432.CCR-17-0790. Clin Cancer Res. 2017. PMID: 28674119 Review.
In October 2016, the American Association for Cancer Research organized the AACR Childhood Cancer Predisposition Workshop in which international experts in care of children with a hereditary risk of cancer met to define surveillance strategies and management of children wi …
In October 2016, the American Association for Cancer Research organized the AACR Childhood Cancer Predisposition Workshop in which internati …
PTEN hamartoma tumor syndrome: clinical risk assessment and management protocol.
Ngeow J, Eng C. Ngeow J, et al. Methods. 2015 May;77-78:11-9. doi: 10.1016/j.ymeth.2014.10.011. Epub 2014 Oct 22. Methods. 2015. PMID: 25461771 Review.
We review current clinical diagnosis and management recommendations for PHTS including recent discoveries in understanding PTEN function regulation and how this can be exploited therapeutically....
We review current clinical diagnosis and management recommendations for PHTS including recent discoveries in understanding PTEN function reg …
Clinical presentation, diagnostic approach, and treatment of hand lipomas: a review.
Lichon S, Khachemoune A. Lichon S, et al. Acta Dermatovenerol Alp Pannonica Adriat. 2018 Sep;27(3):137-139. Acta Dermatovenerol Alp Pannonica Adriat. 2018. PMID: 30244263 Free article. Review.
Differential diagnosis includes liposarcoma and fibrolipomatous hamartoma. To assist with clinical diagnosis, ultrasound, computed tomography, or magnetic resonance imaging may be utilized. ...
Differential diagnosis includes liposarcoma and fibrolipomatous hamartoma. To assist with clinical diagnosis, ultrasound, computed to …
Pediatric Hepatic Cystic Lesions: Differential Diagnosis and Multimodality Imaging Approach.
Riedesel EL, Richer EJ, Taylor SD, Tao T, Gagnon MH, Braithwaite KA, Alazraki AL, Khanna G. Riedesel EL, et al. Radiographics. 2022 Sep-Oct;42(5):1514-1531. doi: 10.1148/rg.220006. Epub 2022 Jul 15. Radiographics. 2022. PMID: 35839138
The presence of multiple cysts should raise suspicion for fibropolycystic liver disease, a group of related lesions-including biliary hamartoma and choledochal cyst-caused by abnormal embryologic development of the ductal plate. ...A complex cystic mass in a young child sh …
The presence of multiple cysts should raise suspicion for fibropolycystic liver disease, a group of related lesions-including biliary ham …
132 results