Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1985 1
1992 1
1995 1
1996 1
1997 2
1998 4
1999 2
2000 3
2001 2
2002 1
2004 1
2005 3
2006 2
2010 3
2011 2
2012 5
2013 3
2014 7
2015 4
2017 4
2018 3
2019 5
2020 2
2021 5
2022 3
2023 6
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

70 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Cowden syndrome 7"
Page 1
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). ...Variant functional scores can reliably discriminate likely pathogenic from benign alleles. ...
Germline PTEN mutations are also associated with a range of clinical outcomes, including PTEN hamartoma tumor syndrome (PHTS) …
Nervous system (NS) Tumors in Cancer Predisposition Syndromes.
Patil P, Pencheva BB, Patil VM, Fangusaro J. Patil P, et al. Neurotherapeutics. 2022 Oct;19(6):1752-1771. doi: 10.1007/s13311-022-01277-w. Epub 2022 Sep 2. Neurotherapeutics. 2022. PMID: 36056180 Free PMC article. Review.
These fundamental discoveries have also broadened the horizon of novel therapeutic possibilities and have helped to be better predictors of prognosis and survival. The treatment paradigm of specific NS tumors may also vary based on the patient's cancer predisposition sy …
These fundamental discoveries have also broadened the horizon of novel therapeutic possibilities and have helped to be better predictors …
Longitudinal Analysis of Cancer Risk in Children and Adults With Germline PTEN Variants.
Yehia L, Plitt G, Tushar AM, Joo J, Burke CA, Campbell SC, Heiden K, Jin J, Macaron C, Michener CM, Pederson HJ, Radhakrishnan K, Shin J, Tamburro J, Patil S, Eng C. Yehia L, et al. JAMA Netw Open. 2023 Apr 3;6(4):e239705. doi: 10.1001/jamanetworkopen.2023.9705. JAMA Netw Open. 2023. PMID: 37093598 Free PMC article.
IMPORTANCE: Identifying hereditary cancer predisposition facilitates high-risk organ-specific cancer surveillance and prevention. In PTEN hamartoma tumor syndrome (PHTS), longitudinal studies remain lacking, and there are insufficient data on cancers in children and …
IMPORTANCE: Identifying hereditary cancer predisposition facilitates high-risk organ-specific cancer surveillance and prevention. In PTEN …
Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.
Orloff MS, He X, Peterson C, Chen F, Chen JL, Mester JL, Eng C. Orloff MS, et al. Am J Hum Genet. 2013 Jan 10;92(1):76-80. doi: 10.1016/j.ajhg.2012.10.021. Epub 2012 Dec 13. Am J Hum Genet. 2013. PMID: 23246288 Free PMC article.
Cowden syndrome (CS) is a difficult-to-recognize multiple hamartoma syndrome with high risks of breast, thyroid, and other cancers. ...PTEN is the phosphatase that has been implicated in a heritable cancer syndrome and subsequently in …
Cowden syndrome (CS) is a difficult-to-recognize multiple hamartoma syndrome with high risks of breast, t …
Genomics of Hereditary Colorectal Cancer: Lessons Learnt from 25 Years of the Singapore Polyposis Registry.
Chew MH, Tan WS, Liu Y, Cheah PY, Loi CT, Tang CL. Chew MH, et al. Ann Acad Med Singap. 2015 Aug;44(8):290-6. Ann Acad Med Singap. 2015. PMID: 26477961 Free article. Review.
RESULTS: The registry currently has 253 families with several genetic conditions-93 familial adenomatous polyposis (FAP) families, 138 Amsterdam-criteria positive presumed Lynch syndrome (LS) families, 12 families with Peutz Jeghers syndrome, 2 families with Cowd …
RESULTS: The registry currently has 253 families with several genetic conditions-93 familial adenomatous polyposis (FAP) families, 138 Amste …
Cancer Risk Associated With PTEN Pathogenic Variants Identified Using Multigene Hereditary Cancer Panel Testing.
Cummings S, Alfonso A, Hughes E, Kucera M, Mabey B, Singh N, Eng C. Cummings S, et al. JCO Precis Oncol. 2023 Jan;7:e2200415. doi: 10.1200/PO.22.00415. JCO Precis Oncol. 2023. PMID: 36634299 Free PMC article.
PURPOSE: PTEN-associated clinical syndromes such as Cowden syndrome (CS) increase cancer risk and have historically been diagnosed based upon phenotypic criteria. ...We observed modest evidence suggesting that PTEN PVs may be associated with ovarian cancer ri …
PURPOSE: PTEN-associated clinical syndromes such as Cowden syndrome (CS) increase cancer risk and have historically been diagn …
Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome.
Al Kaissi A, Misof BM, Laccone F, Blouin S, Roschger P, Kircher SG, Shboul M, Mindler GT, Girsch W, Ganger R. Al Kaissi A, et al. Calcif Tissue Int. 2021 Nov;109(5):586-595. doi: 10.1007/s00223-021-00862-z. Epub 2021 May 18. Calcif Tissue Int. 2021. PMID: 34003338
BMDD abnormalities included a decreased mode calcium concentration in cancellous bone (Z-score - 1.7) and an increased percentage of highly mineralized cortical bone area (Z-score + 2.4) compared to reference. ...Our results indicate further that remodeling o …
BMDD abnormalities included a decreased mode calcium concentration in cancellous bone (Z-score - 1.7) and an increased percent …
Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome.
Bennett KL, Mester J, Eng C. Bennett KL, et al. JAMA. 2010 Dec 22;304(24):2724-31. doi: 10.1001/jama.2010.1877. JAMA. 2010. PMID: 21177507 Free PMC article.
A large heterogeneous group of individuals with Cowden-like syndrome, who have various combinations of Cowden syndrome features but who do not meet Cowden syndrome diagnostic criteria, have PTEN mutations less than 10% of the time, making …
A large heterogeneous group of individuals with Cowden-like syndrome, who have various combinations of Cowden syndro …
Finding a better drug for epilepsy: the mTOR pathway as an antiepileptogenic target.
Galanopoulou AS, Gorter JA, Cepeda C. Galanopoulou AS, et al. Epilepsia. 2012 Jul;53(7):1119-30. doi: 10.1111/j.1528-1167.2012.03506.x. Epub 2012 May 11. Epilepsia. 2012. PMID: 22578218 Free PMC article. Review.
These include tuberous sclerosis, which is due to mutations in TSC1 or TSC2 genes; mutations in phosphatase and tensin homolog (PTEN) as in Cowden syndrome, polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (PMSE) due to mutations in the STE20-rel …
These include tuberous sclerosis, which is due to mutations in TSC1 or TSC2 genes; mutations in phosphatase and tensin homolog (PTEN) as in …
Impaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline PTEN variants.
Desjardins C, Caux F, Degos B, Benzohra D, De Liège A, Bohelay G, Longy M, Béreaux C, Garcin B. Desjardins C, et al. J Med Genet. 2023 Jan;60(1):91-98. doi: 10.1136/jmedgenet-2021-107954. Epub 2021 Dec 22. J Med Genet. 2023. PMID: 34937768 Free article.
PURPOSE: Cowden syndrome (CS) is an autosomal dominant disease related to germline PTEN variants and is characterised by multiple hamartomas, increased risk of cancers and frequent brain alteration. ...Cerebral MRI showed various cerebellar anomalies in seven …
PURPOSE: Cowden syndrome (CS) is an autosomal dominant disease related to germline PTEN variants and is characterised by mu …
70 results