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Quantitative evaluation of DNA damage repair dynamics to elucidate predictors of autism vs. cancer in individuals with germline PTEN variants.
- Published in:
- PLoS Computational Biology, 2024, v. 20, n. 10, p. 1, doi. 10.1371/journal.pcbi.1012449
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- Publication type:
- Article
Mendelian genetics of rare-and not so rare-cancers.
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- 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
A network medicine approach to investigation and population-based validation of disease manifestations and drug repurposing for COVID-19.
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- PLoS Biology, 2020, v. 18, n. 11, p. 1, doi. 10.1371/journal.pbio.3000970
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- Publication type:
- Article
Implementation of Clinical Pharmacogenomics within a Large Health System: From Electronic Health Record Decision Support to Consultation Services.
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- Pharmacotherapy, 2016, v. 36, n. 8, p. 940, doi. 10.1002/phar.1786
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- Publication type:
- Article
Cowden syndrome: Recognizing and managing a not-so-rare hereditary cancer syndrome.
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- Journal of Surgical Oncology, 2015, v. 111, n. 1, p. 125, doi. 10.1002/jso.23735
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- Publication type:
- Article
Cancer phenomics: RET and PTEN as illustrative models.
- Published in:
- 2007
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- Publication type:
- journal article
Opposite association of two PPARG variants with cancer: overrepresentation of H449H in endometrial carcinoma cases and underrepresentation of P12A in renal cell carcinoma cases.
- Published in:
- Human Genetics, 2001, v. 109, n. 2, p. 146, doi. 10.1007/s004390100563
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- Publication type:
- Article
Cloning and characterization of the human GFRA2 locus and investigation of the gene in Hirschsprung disease.
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- Human Genetics, 2001, v. 108, n. 5, p. 409, doi. 10.1007/s004390100506
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- Publication type:
- Article
PTEN Germline Mutations in Patients Initially Tested for Other Hereditary Cancer Syndromes: Would Use of Risk Assessment Tools Reduce Genetic Testing?
- Published in:
- Oncologist, 2013, v. 18, n. 10, p. 1083, doi. 10.1634/theoncologist.2013-0174
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- Publication type:
- Article
Formative Evaluation of Clinician Experience with Integrating Family History-Based Clinical Decision Support into Clinical Practice.
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- Journal of Personalized Medicine, 2014, v. 4, n. 2, p. 115, doi. 10.3390/jpm4020115
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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
A Multimodal Approach to Discover Biomarkers for Taxane-Induced Peripheral Neuropathy (TIPN): A Study Protocol.
- Published in:
- Technology in Cancer Research & Treatment, 2022, v. 21, p. 1, doi. 10.1177/15330338221127169
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- Publication type:
- Article
Shape shifting: The multiple conformational substates of the PTEN N‐terminal PIP<sub>2</sub>‐binding domain.
- Published in:
- Protein Science: A Publication of the Protein Society, 2022, v. 31, n. 5, p. 1, doi. 10.1002/pro.4308
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- Publication type:
- Article
A novel mutation in the tyrosine kinase domain of ERBB2 in hepatocellular carcinoma.
- Published in:
- BMC Cancer, 2006, v. 6, p. 1, doi. 10.1186/1471-2407-6-278
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- Publication type:
- Article
Multimodal single-cell omics analysis identifies epithelium–immune cell interactions and immune vulnerability associated with sex differences in COVID-19.
- Published in:
- Signal Transduction & Targeted Therapy, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41392-021-00709-x
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- Publication type:
- Article
Aging-related cell type-specific pathophysiologic immune responses that exacerbate disease severity in aged COVID-19 patients.
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- Aging Cell, 2022, v. 21, n. 2, p. 1, doi. 10.1111/acel.13544
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- Publication type:
- Article
Maternal genetics influences fetal neurodevelopment and postnatal autism spectrum disorder-like phenotype by modulating in-utero immunosuppression.
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- 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.
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- Translational Psychiatry, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41398-020-01068-x
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- Publication type:
- Article
Highly penetrant hereditary cancer syndromes.
- Published in:
- Oncogene, 2004, v. 23, n. 38, p. 6445, doi. 10.1038/sj.onc.1207714
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- Publication type:
- Article
PTEN mutations are common in sporadic microsatellite stable colorectal cancer.
- Published in:
- Oncogene, 2004, v. 23, n. 2, p. 617, doi. 10.1038/sj.onc.1207059
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- Publication type:
- Article
Frequent epigenetic inactivation of the SLIT2 gene in gliomas.
- Published in:
- Oncogene, 2003, v. 22, n. 29, p. 4611, doi. 10.1038/sj.onc.1206687
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- Publication type:
- Article
Peroxisome proliferator-activated receptor gamma is frequently downregulated in a diversity of sporadic nonmedullary thyroid carcinomas.
- Published in:
- Oncogene, 2003, v. 22, n. 22, p. 3412, doi. 10.1038/sj.onc.1206400
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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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16067-1
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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
Microbiomic differences in tumor and paired-normal tissue in head and neck squamous cell carcinomas.
- Published in:
- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0405-5
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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
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
Brothers with germline PTEN mutations and persistent hypoglycemia, macrocephaly, developmental delay, short stature, and coagulopathy.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 1/2, p. 137, doi. 10.1515/jpem-2012-0227
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- Publication type:
- Article
Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care.
- Published in:
- CTS: Clinical & Translational Science, 2018, v. 11, n. 1, p. 71, doi. 10.1111/cts.12493
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- Publication type:
- Article
Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden-like syndromes: An international, multicenter, prospective study.
- Published in:
- Cancer (0008543X), 2015, v. 121, n. 5, p. 688, doi. 10.1002/cncr.29106
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- Publication type:
- Article
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation.
- Published in:
- Human Mutation, 2018, v. 39, n. 11, p. 1614, doi. 10.1002/humu.23645
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- Publication type:
- Article
Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
- Published in:
- Human Mutation, 2018, v. 39, n. 11, p. 1581, doi. 10.1002/humu.23636
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- Publication type:
- Article
Exploring the neurological features of individuals with germline PTEN variants: A multicenter study.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 5, p. 1301, doi. 10.1002/acn3.52046
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- Publication type:
- Article
Non-canonical role of wild-type SEC23B in the cellular stress response pathway.
- Published in:
- Cell Death & Disease, 2021, v. 12, n. 4, p. 1, doi. 10.1038/s41419-021-03589-9
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- Publication type:
- Article
WWP1 germline variants are associated with normocephalic autism spectrum disorder.
- Published in:
- Cell Death & Disease, 2020, v. 11, n. 7, p. 1, doi. 10.1038/s41419-020-2681-z
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- Publication type:
- Article
Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations.
- Published in:
- Journal of Autism & Developmental Disorders, 2022, v. 52, n. 1, p. 414, doi. 10.1007/s10803-021-04881-5
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- Publication type:
- Article
A Twin Study of Heritable and Shared Environmental Contributions to Autism.
- Published in:
- Journal of Autism & Developmental Disorders, 2014, v. 44, n. 8, p. 2013, doi. 10.1007/s10803-014-2081-2
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- Publication type:
- Article
A Twin Study of Heritable and Shared Environmental Contributions to Autism.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change.
- Published in:
- Journal of Neurodevelopmental Disorders, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s11689-022-09468-4
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- Publication type:
- Article
KLLN epigenotype-phenotype associations in Cowden syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1538, doi. 10.1038/ejhg.2015.8
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- Publication type:
- Article
Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 273, doi. 10.1038/ejhg.2013.114
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- Publication type:
- Article
Prospective comparison of family medical history with personal genome screening for risk assessment of common cancers.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 547, doi. 10.1038/ejhg.2011.224
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- Publication type:
- Article
Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 763, doi. 10.1038/ejhg.2011.20
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- Publication type:
- Article
Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 1, p. 79, doi. 10.1038/sj.ejhg.5201904
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- Publication type:
- Article
Reduced Risk of Corporal Tumors in Patients With Head and Neck Paragangliomas With p.Pro81Leu Mutations.
- Published in:
- Otolaryngology-Head & Neck Surgery, 2023, v. 169, n. 3, p. 570, doi. 10.1002/ohn.274
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- Publication type:
- Article
Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice.
- Published in:
- 2015
- By:
- 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
- By:
- 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
- By:
- Publication type:
- journal article