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

Year Number of Results
1971 1
1976 1
1977 1
1978 3
1985 2
1986 1
1987 2
1988 7
1989 3
1990 4
1991 4
1992 9
1993 10
1994 16
1995 11
1996 8
1997 7
1998 13
1999 16
2000 13
2001 23
2002 15
2003 10
2004 18
2005 12
2006 16
2007 13
2008 15
2009 19
2010 13
2011 13
2012 18
2013 15
2014 17
2015 23
2016 18
2017 17
2018 8
2019 22
2020 23
2021 18
2022 10
2023 7
2024 4

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467 results

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Page 1
The Clinical Spectrum of PTEN Mutations.
Yehia L, Keel E, Eng C. Yehia L, et al. Annu Rev Med. 2020 Jan 27;71:103-116. doi: 10.1146/annurev-med-052218-125823. Epub 2019 Aug 21. Annu Rev Med. 2020. PMID: 31433956 Review.
PTEN dysfunction causes dysregulation of this and other pathways, resulting in overgrowth. Cowden syndrome, a hereditary cancer predisposition and overgrowth disorder, was the first Mendelian condition associated with germline PTEN mutations. ...With time, it became eviden …
PTEN dysfunction causes dysregulation of this and other pathways, resulting in overgrowth. Cowden syndrome, a hereditary cancer predi …
Pathology and genetics of hereditary colorectal cancer.
Ma H, Brosens LAA, Offerhaus GJA, Giardiello FM, de Leng WWJ, Montgomery EA. Ma H, et al. Pathology. 2018 Jan;50(1):49-59. doi: 10.1016/j.pathol.2017.09.004. Epub 2017 Nov 21. Pathology. 2018. PMID: 29169633 Review.
Between 2 and 5% of all CRCs occur due to inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis and Cowden/PTEN hamartoma syndrome. In addition, serrated po …
Between 2 and 5% of all CRCs occur due to inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associ …
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology. Syngal S, et al. Am J Gastroenterol. 2015 Feb;110(2):223-62; quiz 263. doi: 10.1038/ajg.2014.435. Epub 2015 Feb 3. Am J Gastroenterol. 2015. PMID: 25645574 Free PMC article. Review.
Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive ap …
Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making …
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. Diagnostic criteria for Cowden syndrome, the principal PTEN-related disorder, were first established in 1 …
BACKGROUND: PTEN hamartoma tumor syndrome (PHTS) refers to a spectrum of disorders caused by mutations in the phosphatase and …
Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Familial Tumor Syndromes.
Nosé V, Lazar AJ. Nosé V, et al. Head Neck Pathol. 2022 Mar;16(1):143-157. doi: 10.1007/s12105-022-01414-z. Epub 2022 Mar 21. Head Neck Pathol. 2022. PMID: 35312981 Free PMC article. Review.
This review highlights the important findings within these syndromes, especially on the update on syndromes with tumors involving the head and neck region, as Gorlin syndrome/nevoid basal cell carcinoma syndrome associated with odontogenic keratocysts; Brooke-Spiegl …
This review highlights the important findings within these syndromes, especially on the update on syndromes with tumors involving the head a …
An update on the CNS manifestations of neurofibromatosis type 2.
Coy S, Rashid R, Stemmer-Rachamimov A, Santagata S. Coy S, et al. Acta Neuropathol. 2020 Apr;139(4):643-665. doi: 10.1007/s00401-019-02029-5. Epub 2019 Jun 4. Acta Neuropathol. 2020. PMID: 31161239 Free PMC article. Review.
Neurofibromatosis type II (NF2) is a tumor predisposition syndrome characterized by the development of distinctive nervous system lesions. ...NF2 has a highly variable clinical course, with some patients exhibiting a severe phenotype and development of multiple tumo …
Neurofibromatosis type II (NF2) is a tumor predisposition syndrome characterized by the development of distinctive nervous system les …
Hamartomatous polyps: Diagnosis, surveillance, and management.
Gorji L, Albrecht P. Gorji L, et al. World J Gastroenterol. 2023 Feb 28;29(8):1304-1314. doi: 10.3748/wjg.v29.i8.1304. World J Gastroenterol. 2023. PMID: 36925460 Free PMC article. Review.
Hereditary polyposis syndrome can be divided into three categories: Ade-nomatous, serrated, and hamartomatous polyps. ...These syndromes exhibit hamartomatous gastrointestinal polyps in conjunction to extra-intestinal manifestations, which require conscientious and diligen …
Hereditary polyposis syndrome can be divided into three categories: Ade-nomatous, serrated, and hamartomatous polyps. ...These syndro …
Cowden syndrome.
Gustafson S, Zbuk KM, Scacheri C, Eng C. Gustafson S, et al. Semin Oncol. 2007 Oct;34(5):428-34. doi: 10.1053/j.seminoncol.2007.07.009. Semin Oncol. 2007. PMID: 17920899 Review.
Germline PTEN mutations also are associated with syndromes that have not been historically connected to an increase in risk for malignancy. These disorders include Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and Proteus-like …
Germline PTEN mutations also are associated with syndromes that have not been historically connected to an increase in risk for malignancy. …
Dysmorphology.
Kim AY, Bodurtha JN. Kim AY, et al. Pediatr Rev. 2019 Dec;40(12):609-618. doi: 10.1542/pir.2018-0331. Pediatr Rev. 2019. PMID: 31792044 Review. No abstract available.
Gene of the month: SDH.
Aldera AP, Govender D. Aldera AP, et al. J Clin Pathol. 2018 Feb;71(2):95-97. doi: 10.1136/jclinpath-2017-204677. Epub 2017 Oct 25. J Clin Pathol. 2018. PMID: 29070651 Review.
Succinate dehydrogenase (SDH) is a heterotetrameric nuclear encoded mitochondrial protein complex which plays a role in the citric acid cycle and the electron transfer chain. Germline mutations in SDHA are associated with Leigh syndrome. Mutations in SDHB, SDHC and SDHD ar …
Succinate dehydrogenase (SDH) is a heterotetrameric nuclear encoded mitochondrial protein complex which plays a role in the citric acid cycl …
467 results