المؤلفون: Sotirios A. Raptis, G. Peros, Dimitrios Hadjidakis, Smaragda Kamakari, Melpomeni Peppa, Georgios Koutsodontis, Vassiliki Metaxa-Mariatou, Eleni Boutati, Vasilios Pikounis, Theofanis Economopoulos

المصدر: Clinical Endocrinology. 70:75-81

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system, medicine.medical_specialty, endocrine system diseases, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Mutation, Missense, Biology, Gene mutation, medicine.disease_cause, White People, Frameshift mutation, Exon, Endocrinology, Germline mutation, Internal medicine, Multiple Endocrine Neoplasia Type 1, medicine, Humans, Missense mutation, MEN1, Frameshift Mutation, Multiple endocrine neoplasia, Germ-Line Mutation, Aged, Genetics, Mutation, Polymorphism, Genetic, Greece, Middle Aged, medicine.disease, Pedigree, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::341da55ff4b3f2add5594940a0c03909Test
https://doi.org/10.1111/j.1365-2265.2008.03308.xTest

المؤلفون: Zsuzsa Valkusz, Attila Patócs, Miklós Tóth, Katalin Balogh, László Hunyady, Károly Rácz, Peter Gergics

المصدر: Clinical Endocrinology. 67:727-734

مصطلحات موضوعية: Adult, Male, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system, medicine.medical_specialty, Adolescent, endocrine system diseases, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Biology, Gene mutation, medicine.disease_cause, Polymerase Chain Reaction, Evolution, Molecular, Endocrinology, Germline mutation, Internal medicine, Multiple Endocrine Neoplasia Type 1, medicine, Humans, Missense mutation, MEN1, Genetic Testing, Multiple endocrine neoplasia, Germ-Line Mutation, Aged, Aged, 80 and over, Hungary, Mutation, Polymorphism, Genetic, Base Sequence, Middle Aged, medicine.disease, Phenotype, Case-Control Studies, MEN1 Gene Mutation, Female, Sequence Alignment, Primary hyperparathyroidism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c517f06a9514ce3b9cdb657386c84e8cTest
https://doi.org/10.1111/j.1365-2265.2007.02953.xTest

المؤلفون: Nobuyuki Kamata, Akihiro Sakurai, Masato Fujisawa, Toshiaki Sano, Mutsuo Beniko, Katsuhiko Yoshimoto, Shinya Uchino, Noriko Mizusawa, Tohru Yashiro, Hossain M. D. Golam, Yasuyo Suzuki, Yoshio Yamashita, Masaru Tsuyuguchi, Hideki Tahara, Daisuke Nagao, Shinichi Suzuki, Tsunenori Mizukoshi, Shiro Noguchi, Kenji Fujisawa, Takeo Iwata

المصدر: Clinical Endocrinology. 65:9-16

مصطلحات موضوعية: Adenoma, Adult, Male, Pathology, medicine.medical_specialty, Genotype, endocrine system diseases, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Loss of Heterozygosity, Biology, Methylation, Endocrinology, Germline mutation, jaw tumor, Internal medicine, Multiple Endocrine Neoplasia Type 1, medicine, Humans, Missense mutation, Genes, Tumor Suppressor, MEN1, Frameshift Mutation, Promoter Regions, Genetic, Germ-Line Mutation, Aged, Parathyroid adenoma, Hyperparathyroidism, parathyroid tumor, Tumor Suppressor Proteins, FIHP, Sequence Analysis, DNA, Middle Aged, Hyperparathyroidism, Primary, medicine.disease, Jaw Neoplasms, Hyperparathyroidism-Jaw Tumor Syndrome, Pedigree, HRPT2, Parathyroid Neoplasms, Parathyroid carcinoma, HPT-JT, Mutation, Female, Receptors, Calcium-Sensing, Gene Deletion, Primary hyperparathyroidism, Microsatellite Repeats

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1c5d30a0279cffa260dbd8757074096Test
https://doi.org/10.1111/j.1365-2265.2006.02534.xTest

المؤلفون: Tjin Shing Jap, Justin Ging Shing Won, Chih Yang Chiu, Yi Chi Wu, Harn Shen Chen

المصدر: Clinical Endocrinology. 62:336-342

مصطلحات موضوعية: Adult, Male, endocrine system, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Molecular Sequence Data, Taiwan, Biology, medicine.disease_cause, Exon, Endocrinology, Germline mutation, Proto-Oncogene Proteins, Internal medicine, Multiple Endocrine Neoplasia Type 1, medicine, Humans, Missense mutation, MEN1, Amino Acid Sequence, Multiple endocrine neoplasia, Germ-Line Mutation, Prolactinoma, Aged, Aged, 80 and over, Mutation, Base Sequence, Middle Aged, medicine.disease, Pedigree, Female, Primary hyperparathyroidism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99bf4aa31abab2eb88fd4820c2312f1aTest
https://doi.org/10.1111/j.1365-2265.2005.02219.xTest

المؤلفون: Akira Shimatsu, Noritaka Hai, Toru Mori, Shinji Kosugi, Norihiko Aoki

المصدر: Clinical Endocrinology. 52:509-518

مصطلحات موضوعية: Adult, Genetic Markers, Male, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system, medicine.medical_specialty, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Gene mutation, Biology, medicine.disease_cause, Germline, Open Reading Frames, Endocrinology, Germline mutation, Japan, Internal medicine, Multiple Endocrine Neoplasia Type 1, medicine, Humans, MEN1, Multiple endocrine neoplasia, Germ-Line Mutation, Phenocopy, Genetics, Mutation, Reverse Transcriptase Polymerase Chain Reaction, Sequence Analysis, DNA, Middle Aged, medicine.disease, Penetrance, Phenotype, Haplotypes, Cancer research, RNA, Female, Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81176fc0220c88c14f0d37876568750bTest
https://doi.org/10.1046/j.1365-2265.2000.00966.xTest

المؤلفون: Wolfram Karges, Andreas Machens, Detlef K. Bartsch, Ulrich Schneyer, Karin Frank-Raue, Matthias Rothmund, Ludwig Schaaf, Peter E. Goretzki, Friedhelm Raue, Henning Dralle

المصدر: Clinical endocrinology. 67(4)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Aging, Heterozygote, endocrine system diseases, Tumor suppressor gene, Adolescent, Endocrinology, Diabetes and Metabolism, Penetrance, Biology, Malignant transformation, Endocrinology, Germline mutation, Internal medicine, medicine, Multiple Endocrine Neoplasia Type 1, Endocrine system, Humans, MEN1, Multiple endocrine neoplasia, Child, Germ-Line Mutation, Aged, Analysis of Variance, Middle Aged, medicine.disease, Female, Hormone

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1fb86f0d075ae31a521b16199f5339eTest
https://pubmed.ncbi.nlm.nih.gov/17590169Test