المؤلفون: Karin Alvarez, Walter Hernán Pavicic, Taisa Manuela Bonfim Machado-Lopes, Tamara Alejandra Piñero, Maria Betânia Pereira Toralles, Francisco López-Köstner, Kiyoko Abe Sandes, Benedito Mauro Rossi, Carlos A. Vaccaro, Marion Rolain, Juliana Côrtes Freitas, Joanna Goes Castro Meira, Alexandra Martins, Thais Bomfim, Ivana Nascimento, Dirce Maria Carraro, Mev Dominguez-Valentin, Omar Soukarieh, Pål Møller, Giovana Tardin Torrezan, Samuel Aguiar Junior

المصدر: Familial Cancer. 19:323-336

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, RNA Splicing, Argentina, Genetic Counseling, 030105 genetics & heredity, Biology, DNA Mismatch Repair, 03 medical and health sciences, Exon, 0302 clinical medicine, Genetics, PMS2, Humans, Protein Isoforms, Chile, Gene, Genetics (clinical), Mismatch Repair Endonuclease PMS2, RNA, Exons, Middle Aged, Colorectal Neoplasms, Hereditary Nonpolyposis, Introns, digestive system diseases, Pedigree, MSH6, Oncology, MSH2, 030220 oncology & carcinogenesis, RNA splicing, Female, DNA mismatch repair, RNA Splice Sites, Colorectal Neoplasms, MutL Protein Homolog 1, Brazil

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a52a4b06a14942471efd67b378c5c619Test
https://doi.org/10.1007/s10689-020-00182-5Test

المؤلفون: Liying Zhang, Ester Borras, Margaret Sheehan, Kenneth Offit, Karen Cadoo, Ciyu Yang

المصدر: Familial Cancer. 19:315-322

مصطلحات موضوعية: Adult, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, DNA, Complementary, 030105 genetics & heredity, Biology, DNA Mismatch Repair, Germline, 03 medical and health sciences, Exon, 0302 clinical medicine, Germline mutation, Genetics, medicine, Humans, splice, neoplasms, Germ-Line Mutation, Genetics (clinical), Aged, Reverse Transcriptase Polymerase Chain Reaction, Alternative splicing, Intron, nutritional and metabolic diseases, Exons, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Introns, digestive system diseases, Lynch syndrome, Pedigree, Oncology, 030220 oncology & carcinogenesis, Female, Microsatellite Instability, DNA mismatch repair, RNA Splice Sites, MutL Protein Homolog 1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26d25ef1ccdfd2270cdf4698c0025e46Test
https://doi.org/10.1007/s10689-020-00180-7Test

المؤلفون: Felicia Hui Xian Chin, Joanne Ngeow, Tarryn Shaw, Wen Yee Chay, Shao Tzu Li, Eliza Courtney, Sock Hoai Chan, Diana Ishak, Wai Loong Wong, Adele Wong, Khurshid Merchant

المساهمون: Lee Kong Chian School of Medicine (LKCMedicine), Cancer Genetics Services, Division of Medical Oncology, National Cancer Centre Singapore, Department of Pathology and Laboratory, KK Women's and Children's Hospital, KK Gynaecological Cancer Centre

المصدر: Familial cancer. 19(4)

مصطلحات موضوعية: 0301 basic medicine, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Neurofibromatosis 1, Loss of Heterozygosity, 030105 genetics & heredity, Germline, Neurofbromatosis, 03 medical and health sciences, 0302 clinical medicine, Genes, Neurofibromatosis 1, Genetics, Medicine, Humans, Genetic Testing, Allele, Neurofibromatosis, neoplasms, Genetics (clinical), Germ-Line Mutation, Ovarian Neoplasms, biology, business.industry, Biological sciences [Science], Cancer, Middle Aged, Neurofbromin, medicine.disease, Neurofibromin 1, Penetrance, eye diseases, nervous system diseases, Pedigree, Serous fluid, Oncology, 030220 oncology & carcinogenesis, biology.protein, Cancer research, Female, business, Ovarian cancer

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d763cc9f592235fb0ba9d891e846cfa9Test
https://pubmed.ncbi.nlm.nih.gov/32405727Test

المؤلفون: Rajyasree Emmadi, Victoria Alagiozian-Angelova, Francesc López-Giráldez, Priti Marwaha, Sonia S. Kupfer, Jurgis Alvikas, Maureen Regan, Rosa M. Xicola, Julia Clark, Nathan A. Ellis, Jungmin Choi, Timothy J. Carroll, Xavier Llor

المصدر: Fam Cancer

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Cancer Research, 030105 genetics & heredity, Biology, Gene mutation, MLH1, DNA Mismatch Repair, Article, Germline, Loss of heterozygosity, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Genetics, medicine, Humans, Exome, Germ-Line Mutation, Genetics (clinical), Aged, Mismatch Repair Endonuclease PMS2, Aged, 80 and over, Microsatellite instability, Sequence Analysis, DNA, DNA Methylation, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, Lynch syndrome, DNA-Binding Proteins, MutS Homolog 2 Protein, Oncology, 030220 oncology & carcinogenesis, Female, Microsatellite Instability, MutL Protein Homolog 1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fac8ce475cfd81e5f3a71d19fa14673Test
https://doi.org/10.1007/s10689-019-00128-6Test

المؤلفون: Kimberly Fuhrer, Rohit Das, Rish K. Pai, Randall E. Brand, Reetesh K. Pai, Eve Karloski, Beth Dudley

المصدر: Familial cancer. 19(2)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Pathology, medicine.medical_specialty, Colorectal cancer, Biopsy, 030105 genetics & heredity, complex mixtures, DNA Mismatch Repair, Germline, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Prospective Studies, Intestinal Mucosa, Genetics (clinical), Germ-Line Mutation, Aged, Mismatch Repair Endonuclease PMS2, business.industry, Endometrial cancer, Cancer, Colonoscopy, Middle Aged, medicine.disease, Epithelial Cell Adhesion Molecule, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, Lynch syndrome, DNA-Binding Proteins, MutS Homolog 2 Protein, Oncology, 030220 oncology & carcinogenesis, Biomarker (medicine), Immunohistochemistry, Feasibility Studies, DNA mismatch repair, Female, business, MutL Protein Homolog 1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf01d449f9eb3999a7d685435b6f0790Test
https://pubmed.ncbi.nlm.nih.gov/31997046Test

المؤلفون: Francesco Giudici, Raffaella Santi, Gabriella Nesi, Tiziana Cavalli, Francesco Tonelli, Maria Luisa Brandi, Andrea Amorosi

المصدر: Familial Cancer. 16:249-256

مصطلحات موضوعية: Adult, Male, Cancer Research, medicine.medical_specialty, endocrine system diseases, Hypoparathyroidism, 030209 endocrinology & metabolism, Context (language use), Subtotal Parathyroidectomy, Diagnosis, Differential, Parathyroid Glands, 03 medical and health sciences, 0302 clinical medicine, Multiple Endocrine Neoplasia Type 1, Genetics, medicine, Humans, MEN1, Genetics (clinical), Parathyroidectomy, Hyperparathyroidism, Cysts, business.industry, Incidence, Incidence (epidemiology), Middle Aged, Hyperparathyroidism, Primary, Thymectomy, medicine.disease, HPT, PTH, Parathyroid cysts, Surgery, Parathyroid Neoplasms, Oncology, 030220 oncology & carcinogenesis, Female, Differential diagnosis, business, Primary hyperparathyroidism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d036b97e5a69a7f2d9a53194f3b51f5dTest
https://doi.org/10.1007/s10689-016-9936-yTest

المؤلفون: Heather Hampel, Rachel Pearlman, Wendy L. Frankel, Sigurdis Haraldsdottir, Christina A. Arnold, Rachel Roth

المصدر: Familial Cancer. 15:253-260

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Oncology, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, medicine.medical_specialty, Colorectal cancer, DNA Mismatch Repair, Metastasis, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genetics, medicine, PMS2, Humans, Genetics (clinical), Aged, Mismatch Repair Endonuclease PMS2, Aged, 80 and over, business.industry, Cancer, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Immunohistochemistry, Primary tumor, digestive system diseases, Lynch syndrome, DNA-Binding Proteins, MSH6, MutS Homolog 2 Protein, 030104 developmental biology, MSH2, Lymphatic Metastasis, 030220 oncology & carcinogenesis, Female, Colorectal Neoplasms, MutL Protein Homolog 1, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9dec49ae8d302d4aa1b9458dee4abebTest
https://doi.org/10.1007/s10689-015-9856-2Test

المؤلفون: Khalid Alsaleh, Yousef Housawi, Miral Mashhour, Afnan Almousa, Masood Alqahtani, Waleed Abozeed, Abdulmalik Alsheikh, Caitlin Edwards, Natasha Buzzacott, Shareefa Al Hawwaj, Karen Carpenter, Barry Iacopetta

المصدر: Familial cancer. 17(2)

مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, Cancer Research, Bioinformatics, DNA Mismatch Repair, Cohort Studies, 0302 clinical medicine, PMS2, Genetics (clinical), Early Detection of Cancer, Sanger sequencing, education.field_of_study, Incidence, High-Throughput Nucleotide Sequencing, Middle Aged, Lynch syndrome, MutS Homolog 2 Protein, 030220 oncology & carcinogenesis, symbols, Female, Microsatellite Instability, MutL Protein Homolog 1, Adult, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Population, Saudi Arabia, MLH1, 03 medical and health sciences, symbols.namesake, Internal medicine, Genetics, medicine, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, Genetic Testing, education, neoplasms, business.industry, Microsatellite instability, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, MSH6, 030104 developmental biology, MSH2, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6624cc385870075d53fe09b2a03cb7baTest
https://pubmed.ncbi.nlm.nih.gov/28643016Test

المؤلفون: D. Satta, T. Filali, H. Ziada-Bouchaar, K. Sifi, T. Hammada, N. Abadi

المصدر: Familial cancer. 16(1)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Biology, MLH1, medicine.disease_cause, Germline, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Genetics, medicine, Humans, Multiplex ligation-dependent probe amplification, neoplasms, Genetics (clinical), Mutation, nutritional and metabolic diseases, Middle Aged, medicine.disease, Epithelial Cell Adhesion Molecule, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, Lynch syndrome, Pedigree, MSH6, DNA-Binding Proteins, 030104 developmental biology, MutS Homolog 2 Protein, Oncology, MSH2, 030220 oncology & carcinogenesis, Algeria, Cancer research, Female, Colorectal Neoplasms, MutL Protein Homolog 1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a08c3d579290f7fd63053b819155048dTest
https://pubmed.ncbi.nlm.nih.gov/27468915Test

المؤلفون: Shinya Uchino, Nalini S. Shah, Shailesh V. Shrikhande, Shruti Khare, Manjunath Goroshi, Abhay N Dalvi, Anurag R. Lila, Swati Jadhav, Tushar Bandgar

المصدر: Familial cancer. 15(4)

مصطلحات موضوعية: Adult, Male, endocrine system, Cancer Research, medicine.medical_specialty, Pathology, endocrine system diseases, Adolescent, India, 030209 endocrinology & metabolism, Neuroendocrine tumors, Gastroenterology, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Pituitary adenoma, Internal medicine, Positron Emission Tomography Computed Tomography, Proto-Oncogene Proteins, Genetics, medicine, Multiple Endocrine Neoplasia Type 1, Humans, MEN1, Parathyroid disease, Insulinoma, Genetics (clinical), Prolactinoma, business.industry, Retrospective cohort study, Middle Aged, medicine.disease, Hyperparathyroidism, Primary, Neuroendocrine Tumors, Oncology, 030220 oncology & carcinogenesis, Female, business, Primary hyperparathyroidism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c89cd36f2e2e4da686758ed21ff0815eTest
https://pubmed.ncbi.nlm.nih.gov/26905068Test