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1964
2025

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

Year Number of Results
1964 1
1965 1
1969 2
1970 1
1971 1
1973 1
1974 2
1976 1
1977 2
1978 1
1979 1
1981 1
1982 1
1983 3
1984 2
1985 2
1987 3
1988 3
1989 2
1990 4
1992 9
1993 6
1994 10
1995 2
1996 2
1997 2
1998 4
1999 2
2000 5
2001 4
2002 5
2003 9
2004 8
2005 3
2006 7
2007 5
2008 8
2009 7
2010 7
2011 7
2012 7
2013 11
2014 6
2015 8
2016 10
2017 7
2018 10
2019 7
2020 4
2021 5
2022 7
2023 5
2024 6
2025 0

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223 results

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Page 1
Peutz-Jeghers syndrome.
Tacheci I, Kopacova M, Bures J. Tacheci I, et al. Curr Opin Gastroenterol. 2021 May 1;37(3):245-254. doi: 10.1097/MOG.0000000000000718. Curr Opin Gastroenterol. 2021. PMID: 33591027 Review.
PURPOSE OF REVIEW: Peutz-Jeghers syndrome is a rare, autosomal dominant, hereditary polyposis syndrome defined by gastrointestinal hamartomas and mucocutaneous pigmentations, caused by a germline mutation in the serine/ threonine kinase 11 or liver kinase B1 (STK11/LKB1) g …
PURPOSE OF REVIEW: Peutz-Jeghers syndrome is a rare, autosomal dominant, hereditary polyposis syndrome defined by gastrointestinal hamart
Tuberous sclerosis complex: review based on new diagnostic criteria.
Portocarrero LKL, Quental KN, Samorano LP, Oliveira ZNP, Rivitti-Machado MCDM. Portocarrero LKL, et al. An Bras Dermatol. 2018 Jun;93(3):323-331. doi: 10.1590/abd1806-4841.20186972. An Bras Dermatol. 2018. PMID: 29924239 Free PMC article. Review.
Tuberous sclerosis complex is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung. Due to the wide phenotypic variability, the diseas …
Tuberous sclerosis complex is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamarto
Tuberous sclerosis.
Curatolo P, Bombardieri R, Jozwiak S. Curatolo P, et al. Lancet. 2008 Aug 23;372(9639):657-68. doi: 10.1016/S0140-6736(08)61279-9. Lancet. 2008. PMID: 18722871 Review.
Tuberous sclerosis is a genetic multisystem disorder characterised by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver. ...
Tuberous sclerosis is a genetic multisystem disorder characterised by widespread hamartomas in several organs, including the brain, h …
Tuberous sclerosis complex.
Henske EP, Jóźwiak S, Kingswood JC, Sampson JR, Thiele EA. Henske EP, et al. Nat Rev Dis Primers. 2016 May 26;2:16035. doi: 10.1038/nrdp.2016.35. Nat Rev Dis Primers. 2016. PMID: 27226234 Review.
DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies.
Schultz KAP, Williams GM, Kamihara J, Stewart DR, Harris AK, Bauer AJ, Turner J, Shah R, Schneider K, Schneider KW, Carr AG, Harney LA, Baldinger S, Frazier AL, Orbach D, Schneider DT, Malkin D, Dehner LP, Messinger YH, Hill DA. Schultz KAP, et al. Clin Cancer Res. 2018 May 15;24(10):2251-2261. doi: 10.1158/1078-0432.CCR-17-3089. Epub 2018 Jan 17. Clin Cancer Res. 2018. PMID: 29343557 Free PMC article. Review.
In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli-Leydig cell tumor, individuals with pathogenic germline DICER1 variants may also develop lung cysts, cystic nephroma, renal sarcoma …
In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertol …
DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma.
González IA, Stewart DR, Schultz KAP, Field AP, Hill DA, Dehner LP. González IA, et al. Mod Pathol. 2022 Jan;35(1):4-22. doi: 10.1038/s41379-021-00905-8. Epub 2021 Oct 1. Mod Pathol. 2022. PMID: 34599283 Free PMC article. Review.
The most common tumor seen clinically is the pleuropulmonary blastoma (PPB), a lung neoplasm of early childhood which is classified on its morphologic features into four types (IR, I, II and III) with tumor progression over time within the first 4-5 years of life from the …
The most common tumor seen clinically is the pleuropulmonary blastoma (PPB), a lung neoplasm of early childhood which is classified o …
Phakomatoses.
Becker B, Strowd RE 3rd. Becker B, et al. Dermatol Clin. 2019 Oct;37(4):583-606. doi: 10.1016/j.det.2019.05.015. Dermatol Clin. 2019. PMID: 31466597 Review.
Tuberous Sclerosis Complex is characterized by benign hamartomas presenting with hypomelanotic macules, shagreen patches, angiofibromas, confetti lesions and tumors including cortical tubers, subependymal nodules, subependymal giant cell astrocytomas and tumors of the kidn …
Tuberous Sclerosis Complex is characterized by benign hamartomas presenting with hypomelanotic macules, shagreen patches, angiofibrom …
Tuberous sclerosis.
Curatolo P, Maria BL. Curatolo P, et al. Handb Clin Neurol. 2013;111:323-31. doi: 10.1016/B978-0-444-52891-9.00038-5. Handb Clin Neurol. 2013. PMID: 23622183 Review.
Tuberous sclerosis complex (TSC) is a genetic multisystem disorder characterized by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver. ...
Tuberous sclerosis complex (TSC) is a genetic multisystem disorder characterized by widespread hamartomas in several organs, includin …
Lymphangioleiomyomatosis.
Johnson SR, Taveira-DaSilva AM, Moss J. Johnson SR, et al. Clin Chest Med. 2016 Sep;37(3):389-403. doi: 10.1016/j.ccm.2016.04.002. Clin Chest Med. 2016. PMID: 27514586 Review.
Lymphangioleiomyomatosis is a rare multisystem disease predominantly affecting women that can occur sporadically or in association with tuberous sclerosis. Lung cysts progressively replace the lung parenchyma, which leads to dyspnea, recurrent pneumothorax, and in s …
Lymphangioleiomyomatosis is a rare multisystem disease predominantly affecting women that can occur sporadically or in association with tube …
Tuberous sclerosis complex.
Hasbani DM, Crino PB. Hasbani DM, et al. Handb Clin Neurol. 2018;148:813-822. doi: 10.1016/B978-0-444-64076-5.00052-1. Handb Clin Neurol. 2018. PMID: 29478616 Review.
The primary organs affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity. There are over 2000 known allelic variants for TSC, including nonsense and misssense mutation, and all pathogenic mutations are inactivating …
The primary organs affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity. …
223 results