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Can thyroid histomorphology identify patients with PTEN hamartoma tumour syndrome?
- Published in:
- Histopathology, 2024, v. 85, n. 6, p. 929, doi. 10.1111/his.15278
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- Publication type:
- Article
Familial risk for soft tissue tumors: a nation-wide epidemiological study from Sweden.
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- Journal of Cancer Research & Clinical Oncology, 2008, v. 134, n. 5, p. 617, doi. 10.1007/s00432-007-0327-5
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- Publication type:
- Article
Mortality from second tumors among long-term survivors of retinoblastoma.
- Published in:
- 1993
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- Publication type:
- journal article
2576. The Microbiome of Recurrent Bacterial Vaginosis Compared with Asymptomatic Controls.
- Published in:
- Open Forum Infectious Diseases, 2019, v. 6, p. S895, doi. 10.1093/ofid/ofz360.2254
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- Publication type:
- Article
2574. Temporal Changes in the Vaginal Microbiome During Treatment for Bacterial Vaginosis: Is Lactobacillus Iners an Important Player?
- Published in:
- Open Forum Infectious Diseases, 2019, v. 6, p. S894, doi. 10.1093/ofid/ofz360.2252
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- Publication type:
- Article
Autism Spectrum Disorders as a Qualitatively Distinct Category From Typical Behavior in a Large, Clinically Ascertained Sample.
- Published in:
- Assessment, 2010, v. 17, n. 3, p. 308, doi. 10.1177/1073191109356534
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- Publication type:
- Article
Formative Evaluation of Clinician Experience with Integrating Family History-Based Clinical Decision Support into Clinical Practice.
- Published in:
- Journal of Personalized Medicine, 2014, v. 4, n. 2, p. 115, doi. 10.3390/jpm4020115
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- Publication type:
- Article
Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing.
- Published in:
- 1999
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- Publication type:
- journal article
Adrenal and Extra-adrenal Pheochromocytomas in a Family With Germline RET V804L Mutation.
- Published in:
- JAMA: Journal of the American Medical Association, 1999, v. 281, n. 17, p. 1587, doi. 10.1001/jama.281.17.1587
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- Publication type:
- Article
The risk of skin cancer in women who carry BRCA1 or BRCA2 mutations.
- Published in:
- Hereditary Cancer in Clinical Practice, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s13053-024-00277-5
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- Publication type:
- Article
Are population level familial risks and germline genetics meeting each other?
- Published in:
- Hereditary Cancer in Clinical Practice, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s13053-023-00247-3
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- Publication type:
- Article
Mutations in the endothelin-receptor B gene in Hirschsprung disease in Sweden.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 3, p. 215, doi. 10.1034/j.1399-0004.1999.550312.x
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- Publication type:
- Article
Low frequency of RET mutations in Hirschsprung disease in Sweden.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 39, doi. 10.1111/j.1399-0004.1998.tb03691.x
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- Publication type:
- Article
Laparoscopic Organ-Sparing Resection of Von Hippel-Lindau Disease-Associated Pancreatic Neuroendocrine Tumors.
- Published in:
- World Journal of Surgery, 2011, v. 35, n. 3, p. 563, doi. 10.1007/s00268-010-0878-5
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- Publication type:
- Article
Tamoxifen and the risk of breast cancer in women with a BRCA1 or BRCA2 mutation.
- Published in:
- Breast Cancer Research & Treatment, 2023, v. 201, n. 2, p. 257, doi. 10.1007/s10549-023-06991-3
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- Publication type:
- Article
Breast cancer risk after age 60 among BRCA1 and BRCA2 mutation carriers.
- Published in:
- Breast Cancer Research & Treatment, 2021, v. 187, n. 2, p. 515, doi. 10.1007/s10549-020-06072-9
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- Publication type:
- Article
Age at first full-term birth and breast cancer risk in BRCA1 and BRCA2 mutation carriers.
- Published in:
- Breast Cancer Research & Treatment, 2018, v. 171, n. 2, p. 421, doi. 10.1007/s10549-018-4822-y
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- Publication type:
- Article
Physical activity during adolescence and young adulthood and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
- Published in:
- Breast Cancer Research & Treatment, 2018, v. 169, n. 3, p. 561, doi. 10.1007/s10549-018-4694-1
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- Publication type:
- Article
Impact of an embedded genetic counselor on breast cancer treatment.
- Published in:
- Breast Cancer Research & Treatment, 2018, v. 169, n. 1, p. 43, doi. 10.1007/s10549-017-4643-4
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- Publication type:
- Article
Maternal genetics influences fetal neurodevelopment and postnatal autism spectrum disorder-like phenotype by modulating in-utero immunosuppression.
- Published in:
- Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-021-01472-x
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- Publication type:
- Article
Alternative splicing landscape of the neural transcriptome in a cytoplasmic-predominant Pten expression murine model of autism-like Behavior.
- Published in:
- Translational Psychiatry, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41398-020-01068-x
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- Publication type:
- Article
Psychiatric Characteristics Across Individuals With PTEN Mutations.
- Published in:
- Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.672070
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- Publication type:
- Article
Cancer-predisposition gene KLLN maintains pericentric H3K9 trimethylation protecting genomic stability.
- Published in:
- Nucleic Acids Research, 2016, v. 44, n. 8, p. 3586, doi. 10.1093/nar/gkv1481
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- Publication type:
- Article
A Unified Nomenclature and Amino Acid Numbering for Human PTEN.
- Published in:
- Science Signaling, 2014, v. 7, n. 332, p. 1, doi. 10.1126/scisignal.2005560
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- Publication type:
- Article
When Overgrowth Bumps Into Cancer: The PTEN‐opathies.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2013, v. 163C, n. 2, p. 114, doi. 10.1002/ajmg.c.31364
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- Publication type:
- Article
The association between the myelodysplastic syndromes and Crohn disease.
- Published in:
- 1992
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- Publication type:
- journal article
Human breast microbiome correlates with prognostic features and immunological signatures in breast cancer.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00874-2
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- Publication type:
- Article
A Randomized Trial Comparing the Effectiveness of Pre-test Genetic Counseling Using an Artificial Intelligence Automated Chatbot and Traditional In-person Genetic Counseling in Women Newly Diagnosed with Breast Cancer.
- Published in:
- Annals of Surgical Oncology: An Oncology Journal for Surgeons, 2023, v. 30, n. 10, p. 5990, doi. 10.1245/s10434-023-13888-4
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- Publication type:
- Article
ASO Visual Abstract: A Randomized Trial Comparing the Effectiveness of Pre-test Genetic Counseling Using an Artificial Intelligence Automated Chatbot and Traditional In-person Genetic Counseling in Women Newly Diagnosed with Breast Cancer.
- Published in:
- 2023
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- Publication type:
- Abstract
International Rates of Breast Reconstruction After Prophylactic Mastectomy in BRCA1 and BRCA2 Mutation Carriers.
- Published in:
- Annals of Surgical Oncology: An Oncology Journal for Surgeons, 2013, v. 20, n. 12, p. 3817, doi. 10.1245/s10434-013-3040-4
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- Publication type:
- Article
Microbiomic profiles of bile in patients with benign and malignant pancreaticobiliary disease.
- Published in:
- PLoS ONE, 2023, v. 17, n. 4, p. 1, doi. 10.1371/journal.pone.0283021
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- Publication type:
- Article
Development of informant‐report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1741, doi. 10.1002/ajmg.a.63195
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- Publication type:
- Article
Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3401, doi. 10.1002/ajmg.a.62458
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- Publication type:
- Article
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1719, doi. 10.1002/ajmg.a.35406
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- Publication type:
- Article
Frequent somatic mutations in PTEN and TP53 are mutually exclusive in the stroma of breast carcinomas.
- Published in:
- Nature Genetics, 2002, v. 32, n. 3, p. 355, doi. 10.1038/ng1013
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- Publication type:
- Article
To be or not to BMP.
- Published in:
- Nature Genetics, 2001, v. 28, n. 2, p. 105, doi. 10.1038/88802
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- Publication type:
- Article
Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer.
- Published in:
- Nature Genetics, 2000, v. 26, n. 1, p. 16, doi. 10.1038/79120
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- Publication type:
- Article
A bird's eye view of global methylation.
- Published in:
- Nature Genetics, 2000, v. 24, n. 2, p. 101, doi. 10.1038/72730
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- Publication type:
- Article
Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice.
- Published in:
- 2015
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- Publication type:
- journal article
Germline alterations in RASAL1 in Cowden syndrome patients presenting with follicular thyroid cancer and in individuals with apparently sporadic epithelial thyroid cancer.
- Published in:
- 2014
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- Publication type:
- journal article
Transcription factor KLLN inhibits tumor growth by AR suppression, induces apoptosis by TP53/TP73 stimulation in prostate carcinomas, and correlates with cellular differentiation.
- Published in:
- 2013
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- Publication type:
- journal article
Utility of PTEN protein dosage in predicting for underlying germline PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypes.
- Published in:
- 2012
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- Publication type:
- journal article
PTEN lipid phosphatase activity and proper subcellular localization are necessary and sufficient for down-regulating AKT phosphorylation in the nucleus in Cowden syndrome.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
- Published in:
- 2011
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- Publication type:
- journal article
Germline Mutations of the TMEM127 Gene in Patients with Paraganglioma of Head and Neck and Extraadrenal Abdominal Sites.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 8, p. E1279, doi. 10.1210/jc.2011-0114
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- Publication type:
- Article
New insights into genetic susceptibility of COVID-19: an ACE2 and TMPRSS2 polymorphism analysis.
- Published in:
- 2020
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- Publication type:
- Letter
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 3, p. 1, doi. 10.1371/journal.pgen.1007352
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- Publication type:
- Article
Mendelian genetics of rare-and not so rare-cancers.
- Published in:
- Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 70, doi. 10.1111/j.1749-6632.2010.05789.x
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- Publication type:
- Article
Multiple Endocrine Neoplasia Type 2 and the Practice of Molecular Medicine.
- Published in:
- Reviews in Endocrine & Metabolic Disorders, 2000, v. 1, n. 4, p. 283, doi. 10.1023/A:1026514301172
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- Publication type:
- Article
Investigating the Link between Lynch Syndrome and Breast Cancer.
- Published in:
- European Journal of Breast Health, 2020, v. 16, n. 2, p. 106, doi. 10.5152/ejbh.2020.5198
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- Publication type:
- Article