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Year Number of Results
1971 2
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1974 1
1975 1
1976 1
1977 5
1978 1
1979 1
1980 1
1981 1
1982 1
1983 5
1984 3
1985 2
1986 1
1987 4
1988 3
1990 3
1991 3
1992 4
1993 1
1994 3
1995 5
1996 1
1997 6
1998 5
1999 3
2000 3
2001 2
2002 1
2003 1
2004 2
2005 7
2006 5
2007 4
2008 6
2009 7
2010 4
2011 4
2012 6
2013 9
2014 10
2015 5
2016 10
2017 9
2018 11
2019 14
2020 8
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2022 9
2023 16
2024 5

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209 results

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Page 1
Gardner Syndrome.
Charifa A, Jamil RT, Zhang X. Charifa A, et al. 2022 Oct 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2022 Oct 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 29493967 Free Books & Documents.
Gardner syndrome is a phenotypic variant of familial adenomatous polyposis. ...The extracolonic manifestations may include intestinal polyposis, desmoids, osteomas, and epidermoid cysts. Typically, patients with Gardner syndrome may present with
Gardner syndrome is a phenotypic variant of familial adenomatous polyposis. ...The extracolonic manifestations may incl
Analysis of shared heritability in common disorders of the brain.
Brainstorm Consortium; Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Rossor M, Lupton MK, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis JC, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee SJ, De Jager PL, Geschwind DH, Riemenschneider M, Riedel-Heller S, Rotter JI, Ransmayr G, Hyman BT, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh KH, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt GM, Freilinge… See abstract for full author list ➔ Brainstorm Consortium, et al. Science. 2018 Jun 22;360(6395):eaap8757. doi: 10.1126/science.aap8757. Science. 2018. PMID: 29930110 Free PMC article.
We quantified the genetic sharing of 25 brain disorders from genome-wide association studies of 265,218 patients and 784,643 control participants and assessed their relationship to 17 phenotypes from 1,191,588 individuals. Psychiatric disorders share common variant risk, w …
We quantified the genetic sharing of 25 brain disorders from genome-wide association studies of 265,218 patients and 784,643 control partici …
Turcot Syndrome.
Khattab A, Monga DK. Khattab A, et al. 2023 Jun 26. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Jun 26. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 30521203 Free Books & Documents.
There have been attempts to reclassify TS as mismatch repair cancer syndrome (MMRCS) or rename it as brain-tumor polyposis syndrome 1 and 2 (BTPS1 and BTPS2). ...FAP is associated with an APC gene mutation. HNPCC is generally associated with Lynch syndrome. …
There have been attempts to reclassify TS as mismatch repair cancer syndrome (MMRCS) or rename it as brain-tumor polyposis syndrom
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 …
Gardner syndrome: skin manifestations, differential diagnosis and management.
Juhn E, Khachemoune A. Juhn E, et al. Am J Clin Dermatol. 2010;11(2):117-22. doi: 10.2165/11311180-000000000-00000. Am J Clin Dermatol. 2010. PMID: 20141232 Review.
Stemming from a mutation in the adenomatous polyposis coli (APC) gene, Gardner syndrome shares genetic correlations with the FAP phenotype; as a result, it becomes all the more crucial for physicians to be able to discern Gardner syndrome from o …
Stemming from a mutation in the adenomatous polyposis coli (APC) gene, Gardner syndrome shares genetic correlations with the F …
Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup.
Kiessling P, Dowling E, Huang Y, Ho ML, Balakrishnan K, Weigel BJ, Highsmith WE Jr, Niu Z, Schimmenti LA. Kiessling P, et al. Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2):a003640. doi: 10.1101/mcs.a003640. Print 2019 Apr. Cold Spring Harb Mol Case Stud. 2019. PMID: 30696621 Free PMC article.
Gardner syndrome describes a variant phenotype of familial adenomatous polyposis (FAP), primarily characterized by extracolonic lesions including osteomas, dental abnormalities, epidermal cysts, and soft tissue tumors. ...Colonoscopy was negative. This case i
Gardner syndrome describes a variant phenotype of familial adenomatous polyposis (FAP), primarily characterized by extr
Gardner's syndrome (familial adenomatous polyposis): a cilia-related disorder.
Gómez García EB, Knoers NV. Gómez García EB, et al. Lancet Oncol. 2009 Jul;10(7):727-35. doi: 10.1016/S1470-2045(09)70167-6. Lancet Oncol. 2009. PMID: 19573802 Review.
Mutations in APC causing Gardner's syndrome are clustered in a region encoding a series of amino-acid repeats responsible for the binding to beta-catenin. ...Understanding extracolonic manifestations in the context of FAP as a ciliary disorder might add new therapeu …
Mutations in APC causing Gardner's syndrome are clustered in a region encoding a series of amino-acid repeats responsible for …
Familial adenomatous polyposis.
Galiatsatos P, Foulkes WD. Galiatsatos P, et al. Am J Gastroenterol. 2006 Feb;101(2):385-98. doi: 10.1111/j.1572-0241.2006.00375.x. Am J Gastroenterol. 2006. PMID: 16454848 Review.
Associated features include upper gastrointestinal tract polyps, congenital hypertrophy of the retinal pigment epithelium, desmoid tumors, and other extracolonic malignancies. Gardner syndrome is more of a historical subdivision of FAP, characterized by osteomas, de …
Associated features include upper gastrointestinal tract polyps, congenital hypertrophy of the retinal pigment epithelium, desmoid tumors, a …
Novel Mutation in APC Gene Associated with Multiple Osteomas in a Family and Review of Genotype-Phenotype Correlations of Extracolonic Manifestations in Gardner Syndrome.
Antohi C, Haba D, Caba L, Ciofu ML, Drug VL, Bărboi OB, Dobrovăț BI, Pânzaru MC, Gorduza NC, Lupu VV, Dimofte D, Gug C, Gorduza EV. Antohi C, et al. Diagnostics (Basel). 2021 Aug 28;11(9):1560. doi: 10.3390/diagnostics11091560. Diagnostics (Basel). 2021. PMID: 34573902 Free PMC article.
Gardner syndrome is a neoplasic disease that associates intestinal polyposis and colorectal adenocarcinoma with osteomas and soft tissue tumors determined by germline mutations in the APC gene. ...Both had the typical signs of disease and died in the fourth decade o
Gardner syndrome is a neoplasic disease that associates intestinal polyposis and colorectal adenocarcinoma with osteomas and s
Familial Adenomatous Polyposis.
Carr S, Kasi A. Carr S, et al. 2023 Feb 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Feb 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 30855821 Free Books & Documents.
Familial adenomatous polyposis (FAP) or familial polyposis coli (FPC) is an autosomal dominant polyposis syndrome with varying degrees of penetrance. If untreated, patients will develop hundreds to thousands of polyps throughout the colon and rectum. ...Over the years, it …
Familial adenomatous polyposis (FAP) or familial polyposis coli (FPC) is an autosomal dominant polyposis syndrome with varying degree …
209 results