Výsledky vyhledávání - "Endocrine System Diseases: genetics"

Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project)

Autoři: Sebastian Gippert Matias Wagner Theresa Brunet a další

Zdroj: Endocrine

Témata: Male, Adolescent, Infant, Original Article, Exome sequencing, chronic pediatric endocrine diseases, TRANSLATE-NAMSE, rare diseases, multidisciplinary case conferences, Biological Sciences, Endocrine System Diseases, 3. Good health, ddc, Cohort Studies, Adolescent [MeSH], Female [MeSH], Endocrine System Diseases/genetics [MeSH], Humans [MeSH], Endocrine System Diseases/diagnosis [MeSH], Exome Sequencing/methods [MeSH], Cohort Studies [MeSH], Infant [MeSH], Male [MeSH], Chronic Disease [MeSH], Genetic Testing/methods [MeSH], Exome/genetics [MeSH], Child [MeSH], Child, Preschool [MeSH], Child, Preschool, Exome Sequencing, Chronic Disease, Humans, Female, Exome, Genetic Testing, Child

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/37940764
https://repository.publisso.de/resource/frl:6494460
https://mediatum.ub.tum.de/1764096

Pharmacological Interventions Targeting Pain in Fibrous Dysplasia/McCune-Albright Syndrome

Autoři: Tucker-Bartley, Anthony Selen, Daryl J Golden, Emma a další

Zdroj: Tucker-Bartley, A, Selen, D J, Golden, E, van Gool, R, Ebb, D, Mannstadt, M & Upadhyay, J 2023, 'Pharmacological Interventions Targeting Pain in Fibrous Dysplasia/McCune-Albright Syndrome', International journal of molecular sciences, vol. 24, no. 3, 2550. https://doi.org/10.3390/ijms24032550

Témata: Humans, Fibrous Dysplasia, Polyostotic/complications, Endocrine System Diseases/genetics, Bone and Bones/pathology, Diphosphonates/pharmacology, Musculoskeletal Pain/complications

Relation: info:eu-repo/semantics/altIdentifier/pmid/36768871; info:eu-repo/semantics/altIdentifier/pissn/1661-6596; info:eu-repo/semantics/altIdentifier/eissn/1422-0067

Dostupnost: https://cris.maastrichtuniversity.nl/en/publications/a3f8605a-fd4e-480d-b813-7201359af266
https://doi.org/10.3390/ijms24032550
https://www.scopus.com/pages/publications/85147880173

G protein-coupled receptors: mutations and endocrine diseases

Autoři: Vassart, Gilbert Costagliola, Sabine

Zdroj: Nature Reviews Endocrinology. 7:362-372

Témata: Mutation -- physiology, 0301 basic medicine, 0303 health sciences, Protein Binding -- genetics -- physiology, Biological, Endocrine System Diseases, Endocrine System Diseases -- genetics, Models, Biological, Sciences biomédicales, Receptors, G-Protein-Coupled, 3. Good health, Signal Transduction -- genetics -- physiology, 03 medical and health sciences, Models, Receptors, Mutation, Humans, G-Protein-Coupled -- genetics -- metabolism -- physiology, Protein Binding, Signal Transduction

Popis souboru: No full-text files

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/21301490
https://pubmed.ncbi.nlm.nih.gov/21301490/
https://www.nature.com/articles/nrendo.2011.20
https://weblearn.ox.ac.uk/access/content/group/b6eb0442-7719-4f6f-b0da-f36b91c6c235/FHS%20Learning%20resources/Wk1%20Hormone%20action/GPCRs%20and%20disease%202011%20Nature.pdf
https://europepmc.org/article/MED/21301490
https://difusion.ulb.ac.be/vufind/Record/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/124787/Details
http://www.nature.com/nrendo/journal/v7/n6/fig_tab/nrendo.2011.20_F1.html

The roles of specific genes implicated as circulating factors involved in normal and disordered phosphate homeostasis: frizzled related protein-4, matrix extracellular phosphoglycoprotein, and fibroblast growth factor 23.

Autoři: White, Kenneth E Larsson, Tobias E Econs, Michael J

Zdroj: Endocr Rev. 27(3):221-41

Témata: Animals, Endocrine System Diseases/*genetics, Extracellular Matrix Proteins/*metabolism, Fibroblast Growth Factors/*metabolism, Glycoproteins/*metabolism, Homeostasis/genetics/physiology, Humans, Kidney Failure, Chronic/*genetics, Mice, Nevus/genetics, Osteochondrodysplasias/genetics, Parathyroid Diseases/genetics, Phosphates/*metabolism, Phosphoproteins/*metabolism, Proteins/metabolism, Proto-Oncogene Proteins/*metabolism, Skin Neoplasms/genetics

Popis souboru: print

Přístupová URL adresa: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-13192

Carney Complex, Peutz-Jeghers Syndrome, Cowden Disease, and Bannayan-Zonana Syndrome Share Cutaneous and Endocrine Manifestations, But Not Genetic Loci

Autoři: J A Carney Stylianos E. Antonarakis Deborah J. Marsh a další

Zdroj: Journal of Clinical Endocrinology and Metabolism, Vol. 83, No 8 (1998) pp. 2972-2976

Témata: Adult, Genetic Markers, Male, Adolescent, Neoplastic Syndromes, Hereditary/ genetics, Peutz-Jeghers Syndrome/ genetics, Peutz-Jeghers Syndrome, Loss of Heterozygosity, Endocrine System Diseases, 03 medical and health sciences, 0302 clinical medicine, Neoplastic Syndromes, Hereditary, Humans, Child, ddc:616, Lentigo, Endocrine System Diseases/ genetics, Chromosome Mapping, Pedigree, 3. Good health, Lentigo/ genetics, Hamartoma Syndrome, Multiple/ genetics, Female, Lod Score, Hamartoma Syndrome, Multiple

Popis souboru: application/pdf

Přístupová URL adresa: https://academic.oup.com/jcem/article-pdf/83/8/2972/10405234/jcem2972.pdf
https://pubmed.ncbi.nlm.nih.gov/9709978
https://archive-ouverte.unige.ch/unige:9043
https://www.ncbi.nlm.nih.gov/pubmed/9709978
https://pubmed.ncbi.nlm.nih.gov/9709978/
https://academic.oup.com/jcem/article/83/8/2972/2660661
https://archive-ouverte.unige.ch/unige:9043

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Autoři: Pelletier, Félixe Perrier, Stefanie Naidu, Sakkubai a další

Zdroj: The journal of clinical endocrinology & metabolism 106(2), e660 - e674 (2021). doi:10.1210/clinem/dgaa700

Témata: info:eu-repo/classification/ddc/610, Adolescent, Adult, Biological Variation, Population, Child, Preschool, Cohort Studies, Cross-Sectional Studies, DNA-Directed RNA Polymerases: genetics, Endocrine System Diseases: epidemiology, Endocrine System Diseases: etiology, Endocrine System Diseases: genetics, Female, Genetic Heterogeneity, Growth Disorders: epidemiology, Growth Disorders: etiology, Growth Disorders: genetics, Hereditary Central Nervous System Demyelinating Diseases: complications, Hereditary Central Nervous System Demyelinating Diseases: epidemiology, Hereditary Central Nervous System Demyelinating Diseases: genetics, Humans, Hypogonadism: epidemiology, Hypogonadism: etiology, Infant, Newborn, Male, Mitochondrial Diseases: complications, Mitochondrial Diseases: epidemiology, Mitochondrial Diseases: genetics

Geografické téma: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1945-7197; info:eu-repo/semantics/altIdentifier/pmid/pmid:33005949; info:eu-repo/semantics/altIdentifier/issn/2578-7241; info:eu-repo/semantics/altIdentifier/issn/0021-972X; info:eu-repo/semantics/altIdentifier/issn/0368-1610; https://pub.dzne.de/record/164192

Dostupnost: https://pub.dzne.de/record/164192
https://pub.dzne.de/search?p=id:%22DZNE-2022-00848%22

G-protein linked receptors and G-protein gene mutations causing endocrine diseases / Mutasjoner i gener for G-proteinkoblede reseptorer og G-proteiner som årsak til endokrine sykdommer

Autoři: Aarskog, D Bjerknes, R

Zdroj: Pediatrisk Endokrinologi. 17(1):44

Akhenaten - farao and heretic / Akhnaton - farao og kjetter

Autoři: Albretsen, C S Albretsen, C

Zdroj: Tidsskrift for Den Norske Laegeforening. 119(8):1115

Genome Plasticity in Health and Disease

Autoři: Diego A. Forero George P. Patrinos

Resource Type: eBook.

Témata: Genomics, Genome, Human--physiology, Genetic Phenomena--physiology, Adaptation, Physiological--physiology, Cardiovascular Diseases--genetics, Nervous System Diseases--genetics, Endocrine System Diseases--genetics, Ge´nomique, Medical genetics

Categories: MEDICAL / Genetics, SCIENCE / Life Sciences / Molecular Biology

"Osteoporosis" and physiological variation / "Osteoporose" og fysiologisk variasjon

Autoři: Strömsöe, K Höiseth, A

Zdroj: Tidsskrift for Den Norske Laegeforening. 126(4):483

The future endocrine patient. Reflections on the future of clinical endocrinology

Autoři: Lamberts, S.W.J. (Steven) Romijn, J.A. (Johannes) Wiersinga, W.M. (Wilmar)

Zdroj: European Journal of Endocrinology

Témata: Endocrine System Diseases/genetics/*therapy, Endocrinology/*methods/trends, Female, Hormone Replacement Therapy/methods/trends, Humans, Male

Popis souboru: application/pdf

Relation: https://repub.eur.nl/pub/10214; urn:hdl:1765/10214

Dostupnost: https://repub.eur.nl/pub/10214

Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci

Autoři: Stratakis, C. A. Kirschner, L. S. Taymans, S. E. a další

Zdroj: ISSN: 0021-972X ; The Journal of clinical endocrinology and metabolism, vol. 83, no. 8 (1998) p. 2972-2976.

Témata: info:eu-repo/classification/ddc/616, Adolescent, Adult, Child, Chromosome Mapping, Endocrine System Diseases/ genetics, Female, Genetic Markers, Hamartoma Syndrome, Multiple/ genetics, Humans, Lentigo/ genetics, Lod Score, Loss of Heterozygosity, Male, Neoplastic Syndromes, Hereditary/ genetics, Pedigree, Peutz-Jeghers Syndrome/ genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/9709978; unige:9043

Dostupnost: https://archive-ouverte.unige.ch/unige:9043