المؤلفون: Roos, E, Soer, E C, Klompmaker, S, Meijer, Laura, Besselink, M G, Giovannetti, E, Heger, M, Kazemier, G, Klümpen, H J, Takkenberg, R B, Wilmink, H, Würdinger, T, Dijk, F, van Gulik, T M, Verheij, J, van de Vijver, M J, Afd Pharmaceutics, Sub Membrane Biochemistry & Biophysics, Pharmaceutics

المساهمون: Afd Pharmaceutics, Sub Membrane Biochemistry & Biophysics, Pharmaceutics

المصدر: Critical Reviews in Oncology/Hematology, 140, 8. Elsevier Ireland Ltd.
Roos, E, Soer, E C, Klompmaker, S, Meijer, L L, Besselink, M G, Giovannetti, E, Heger, M, Kazemier, G, Klümpen, H J, Takkenberg, R B, Wilmink, H, Würdinger, T, Dijk, F, van Gulik, T M, Verheij, J & van de Vijver, M J 2019, ' Crossing borders: A systematic review with quantitative analysis of genetic mutations of carcinomas of the biliary tract ', Critical Reviews in Oncology/Hematology, vol. 140, pp. 8-16 . https://doi.org/10.1016/j.critrevonc.2019.05.011

مصطلحات موضوعية: 0301 basic medicine, Phosphofructokinase-2/genetics, Biliary Tract Neoplasms/genetics, Chromogranins/genetics, Phosphofructokinase-2, Cell of origin, Isocitrate Dehydrogenase/genetics, Phosphoric Monoester Hydrolases/genetics, Receptor, Transforming Growth Factor-beta Type II/genetics, Cholangiocarcinoma, 0302 clinical medicine, Neoplasm Proteins/genetics, GTP-Binding Protein alpha Subunits, Gs, Medicine, biology, Hematology, GTP-Binding Protein alpha Subunits, Isocitrate Dehydrogenase, Neoplasm Proteins, medicine.anatomical_structure, Biliary Tract Neoplasms, Oncology, Biliary tract, 030220 oncology & carcinogenesis, Cholangiocarcinoma/genetics, Receptor, GTP-Binding Protein alpha Subunits, Gs/genetics, IDH1, Adenomatous Polyposis Coli Protein, Genomics, IDH2, Transforming Growth Factor-beta Type II/genetics, 03 medical and health sciences, GNAS complex locus, Chromogranins, Humans, Adenomatous Polyposis Coli Protein/genetics, Membrane Proteins/genetics, Gene, business.industry, Gallbladder, Receptor, Transforming Growth Factor-beta Type II, Membrane Proteins, Phosphoric Monoester Hydrolases, Gs/genetics, 030104 developmental biology, Mutation, Cancer research, biology.protein, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d64563fc2213fbeca1732853fe1f43b9
https://pubmed.ncbi.nlm.nih.gov/31158800

المؤلفون: Fernando Fonseca, Branca M. Cavaco, Rute A. Tomaz, Luís G. Sobrinho, Valeriano Leite, Mário Rui Mascarenhas

المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP

مصطلحات موضوعية: musculoskeletal diseases, Adult, Endocrinology, Diabetes and Metabolism, Disease, Syntaxin 16, Pseudohypoparathyroidism/diagnosis, Young Adult, Endocrinology, Pseudohypoparathyroidism/genetics, medicine, GNAS complex locus, Chromogranins, GTP-Binding Protein alpha Subunits, Gs, Humans, Imprinting (psychology), Child, Pseudohypoparathyroidism, Genetics, biology, Portugal, Methylation, medicine.disease, Syntaxin 16/genetics, biology.protein, STX16, Female, Genomic imprinting, HCC END, Rare disease, GTP-Binding Protein alpha Subunits, Gs/genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e222e98fe761293c74a62312dd02f50d

المؤلفون: Ender Semiz, Maşallah Candemir, Füsun Düzcan, Vildan Caner, Olaf Hiort, Serap Semiz, Susanne Thiele

المصدر: Journal of Pediatric Endocrinology and Metabolism. 22

مصطلحات موضوعية: brain calcification, frameshift mutation, hand paresthesia, Endocrinology, Diabetes and Metabolism, Inheritance Patterns, extrachromosomal inheritance, calcium metabolism, hypocalcemia, physical examination, computer assisted tomography, thyrotropin, thyroxine blood level, Endocrinology, GTP-Binding Protein alpha Subunits, Gs, echocardiography, Medicine, Pseudohypoparathyroidism type Ia, electrolyte disturbance, stimulatory guanine nucleotide binding protein, Genetics, article, pseudohypoparathyroidism, Fahr disease, Pedigree, female, pseudohypoparathyroidism type Ia, cataract, laboratory test, visual system examination, pseudopseudohypoparathyroidism, hormone resistance, tetany, Abnormalities, Multiple/*genetics/pathology, Adolescent, Chromogranins, Frameshift Mutation, GTP-Binding Protein alpha Subunits, Gs/*genetics, Humans, Male, Pseudohypoparathyroidism/*genetics/pathology, paresthesia, male, mental deficiency, parathyroid hormone, case report, Abnormalities, Multiple, human, hyperphosphatemia, thyroxine, gene deletion, business.industry, GNAS Gene Mutation, parathyroid hormone blood level, foot paresthesia, short stature, thyrotropin blood level, adolescent, Albright syndrome, Pediatrics, Perinatology and Child Health, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::117375f03f50eaaff7bbd8d5eaac2bd7
https://doi.org/10.1515/jpem.2009.22.2.107

المؤلفون: Picard, Christophe, Silvy, Monique, Gerard, c, Buffat, Christophe, Lavaque, Esteban, Figarella-Branger, Dominique, Dufour, Henri, Gabert, Jean, Beckers, Albert, Brue, Thierry, Enjalbert, Alain, Barlier, Anne

المصدر: International Journal of Cancer, 121 (6), 1245-1252 (2007-09-15)

مصطلحات موضوعية: Adenoma/drug therapy/genetics/pathology, Antineoplastic Agents, Hormonal/therapeutic use, Blotting, Western, DNA Methylation, Drug Resistance, Neoplasm/genetics, GTP-Binding Protein alpha Subunits, Gs/genetics, Genomic Imprinting, Growth Hormone-Secreting Pituitary Adenoma/drug therapy/genetics/pathology, Humans, Octreotide/therapeutic use, Prolactinoma/drug therapy/genetics/pathology, RNA, Messenger/analysis, Reverse Transcriptase Polymerase Chain Reaction, Human health sciences, Endocrinology, metabolism & nutrition, Sciences de la santé humaine, Endocrinologie, métabolisme & nutrition

Relation: urn:issn:0020-7136; urn:issn:1097-0215

URL الوصول: https://orbi.uliege.be/handle/2268/63035

المؤلفون: Elena Laspa, Agathocles Tsatsoulis, Harald Jüppner, Murat Bastepe

المصدر: The Journal of clinical endocrinology and metabolism. 89(12)

مصطلحات موضوعية: musculoskeletal diseases, Proband, Adult, Male, Uric Acid/blood/*urine, medicine.medical_specialty, Genetic Linkage, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Chromosomes, Human, Pair 20, Drug Resistance, Parathyroid hormone, Parathyroid Hormone Resistance, Biochemistry, Exon, Endocrinology, Parathyroid Hormone/*metabolism, Internal medicine, medicine, GNAS complex locus, Chromogranins, GTP-Binding Protein alpha Subunits, Gs, Humans, Osteodystrophy, Vitamin D, Molecular Biology, Pseudohypoparathyroidism, Genetics, biology, Greece, Phenotype, Vitamin D/*analogs & derivatives/urine, Biochemistry (medical), medicine.disease, Pedigree, Uric Acid, Parathyroid Hormone, biology.protein, Pseudohypoparathyroidism/blood/*genetics/physiopathology/urine, STX16, GTP-Binding Protein alpha Subunits, Gs/genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3640f9353c77108b88d9f72cd9a1fbb2
https://pubmed.ncbi.nlm.nih.gov/15579741

المؤلفون: Bastepe, M., Frohlich, L. F., Hendy, G. N., Indridason, O. S., Josse, R. G., Koshiyama, H., Korkko, J., Nakamoto, J. M., Rosenbloom, A. L., Slyper, A. H., Sugimoto, T., Tsatsoulis, A., Crawford, J. D., Juppner, H.

مصطلحات موضوعية: Adult, Adolescent, Genomic Imprinting, DNA Methylation, Humans, Exons, GTP-Binding Protein alpha Subunits, Gs/*genetics, Child, Gene Deletion, Pseudohypoparathyroidism/*genetics, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_____10561::c4ea30a014ebf9ebde934616cb0d39a8
http://olympias.lib.uoi.gr/jspui/handle/123456789/23570

المصدر: Michienzi , S , Cherman , N , Holmbeck , K , Funari , A , Collins , M T , Bianco , P , Robey , P G & Riminucci , M 2007 , ' GNAS transcripts in skeletal progenitors : evidence for random asymmetric allelic expression of Gs alpha ' , Human Molecular Genetics , vol. 16 , no. 16 , pp. 1921-30 .

مصطلحات الفهرس: Adolescent, Adult, Alleles, Base Sequence, Bone Marrow/metabolism, Child, Chromogranins, Female, Fibrous Dysplasia of Bone/genetics, GTP-Binding Protein alpha Subunits, Gs/genetics, Humans, Male, Middle Aged, Molecular Sequence Data, Mutation, Myoblasts, Skeletal/cytology, Reverse Transcriptase Polymerase Chain Reaction, Stromal Cells/cytology, article

URL: https://curis.ku.dk/portal/da/publications/gnas-transcripts-in-skeletal-progenitors(88951798-5d1c-4f08-95be-1b8bb07e6891).html
https://doi.org/10.1093/hmg/ddm139

المصدر: Michienzi , S , Cherman , N , Holmbeck , K , Funari , A , Collins , M T , Bianco , P , Robey , P G & Riminucci , M 2007 , ' GNAS transcripts in skeletal progenitors : evidence for random asymmetric allelic expression of Gs alpha ' , Human Molecular Genetics , vol. 16 , no. 16 , pp. 1921-30 .

مصطلحات الفهرس: Adolescent, Adult, Alleles, Base Sequence, Bone Marrow/metabolism, Child, Chromogranins, Female, Fibrous Dysplasia of Bone/genetics, GTP-Binding Protein alpha Subunits, Gs/genetics, Humans, Male, Middle Aged, Molecular Sequence Data, Mutation, Myoblasts, Skeletal/cytology, Reverse Transcriptase Polymerase Chain Reaction, Stromal Cells/cytology, article

URL: https://curis.ku.dk/portal/da/publications/gnas-transcripts-in-skeletal-progenitors(88951798-5d1c-4f08-95be-1b8bb07e6891).html
https://doi.org/10.1093/hmg/ddm139

المصدر: European journal of endocrinology, 147 (3

مصطلحات الفهرس: Sciences bio-médicales et agricoles, DNA -- analysis, Female, GTP-Binding Protein alpha Subunits, Gs -- genetics, Humans, Japan, Male, Mutation, Receptors, Thyrotropin -- genetics, Sequence Analysis, DNA, Thyroid Nodule -- genetics, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/52374
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL

المصدر: European journal of endocrinology, 147 (3

مصطلحات الفهرس: Sciences bio-médicales et agricoles, DNA -- analysis, Female, GTP-Binding Protein alpha Subunits, Gs -- genetics, Humans, Japan, Male, Mutation, Receptors, Thyrotropin -- genetics, Sequence Analysis, DNA, Thyroid Nodule -- genetics, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/52374
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL