يعرض 1 - 20 نتائج من 256 نتيجة بحث عن '"Christa E Flück"', وقت الاستعلام: 0.78s تنقيح النتائج
  1. 1
    Academic Journal
    Late diagnosis of partial 3β-hydroxysteroid dehydrogenase type 2 deficiency – characterization of a new genetic variant

    المؤلفون: Cagla Margit Øzdemir, Mette Mølby Nielsen, Jani Liimatta, Clarissa D Voegel, Rawda Naamneh Elzenaty, Victor S Wasehuus, Marie Lind-Holst, Marie Juul Ornstrup, Stine Bjørn Gram, Lilian Bomme Ousager, Christa E Flück, Claus H Gravholt

    المصدر: Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-8 (2024)

    مصطلحات موضوعية: Diseases of the endocrine glands. Clinical endocrinology, RC648-665

    وصف الملف: electronic resource

    Relation: https://edm.bioscientifica.com/view/journals/edm/2024/3/EDM23-0090.xml; https://doaj.org/toc/2052-0573

    URL الوصول: https://doaj.org/article/fa243a86ff684261b55f0ddbd54c03c6

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  2. 2
    Academic Journal
    A rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the STAR gene

    المؤلفون: Lukas Burget, Laura Audí Parera, Monica Fernandez-Cancio, Rolf Gräni, Christoph Henzen, Christa E Flück

    المصدر: Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-4 (2018)

    مصطلحات موضوعية: Diseases of the endocrine glands. Clinical endocrinology, RC648-665

    وصف الملف: electronic resource

    Relation: https://www.edmcasereports.com/articles/endocrinology-diabetes-and-metabolism-case-reports/10.1530/EDM-18-0003; https://doaj.org/toc/2052-0573

    URL الوصول: https://doaj.org/article/8385655384f6433a8b17f6dfb8f175f9

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  3. 3
    Academic Journal
    Urinary steroid profiling in women hints at a diagnostic signature of the polycystic ovary syndrome: A pilot study considering neglected steroid metabolites.

    المؤلفون: Nasser A Dhayat, Nesa Marti, Zahraa Kollmann, Amineh Troendle, Lia Bally, Geneviève Escher, Michael Grössl, Daniel Ackermann, Belen Ponte, Menno Pruijm, Michael Müller, Bruno Vogt, Martin H Birkhäuser, Murielle Bochud, Christa E Flück, members of the SKIPOGH Study Group

    المصدر: PLoS ONE, Vol 13, Iss 10, p e0203903 (2018)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    Relation: http://europepmc.org/articles/PMC6181287?pdf=render; https://doaj.org/toc/1932-6203

    URL الوصول: https://doaj.org/article/a3129054edc645e88753762425a14de3

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  4. 4
    Academic Journal
    Resveratrol inhibits androgen production of human adrenocortical H295R cells by lowering CYP17 and CYP21 expression and activities.

    المؤلفون: Nesa Marti, Nadia Bouchoucha, Kay-Sara Sauter, Christa E Flück

    المصدر: PLoS ONE, Vol 12, Iss 3, p e0174224 (2017)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    Relation: http://europepmc.org/articles/PMC5360261?pdf=render; https://doaj.org/toc/1932-6203

    URL الوصول: https://doaj.org/article/66699266a1e940138fd4db8927d88d81

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  5. 5
    Academic Journal
    Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype.

    المؤلفون: Núria Camats, Mónica Fernández-Cancio, Laura Audí, Primus E Mullis, Francisca Moreno, Isabel González Casado, Juan Pedro López-Siguero, Raquel Corripio, José Antonio Bermúdez de la Vega, José Antonio Blanco, Christa E Flück

    المصدر: PLoS ONE, Vol 10, Iss 11, p e0142831 (2015)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    Relation: http://europepmc.org/articles/PMC4646284?pdf=render; https://doaj.org/toc/1932-6203

    URL الوصول: https://doaj.org/article/83e5670bec4f4679bf1074b46ee36744

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  6. 6
    Academic Journal
    Butyrate increases intracellular calcium levels and enhances growth hormone release from rat anterior pituitary cells via the G-protein-coupled receptors GPR41 and 43.

    المؤلفون: Maria Consolata Miletta, Vibor Petkovic, Andrée Eblé, Roland A Ammann, Christa E Flück, Primus-E Mullis

    المصدر: PLoS ONE, Vol 9, Iss 10, p e107388 (2014)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/1932-6203

    URL الوصول: https://doaj.org/article/7cca22c11a0b45cb886a2dbbc16ec2a8

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  7. 7
    Academic Journal
    Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis.

    المؤلفون: Jana Malikova, Núria Camats, Mónica Fernández-Cancio, Karen Heath, Isabel González, María Caimarí, Miguel del Campo, Marian Albisu, Stanislava Kolouskova, Laura Audí, Christa E Flück

    المصدر: PLoS ONE, Vol 9, Iss 8, p e104838 (2014)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    Relation: http://europepmc.org/articles/PMC4133263?pdf=render; https://doaj.org/toc/1932-6203

    URL الوصول: https://doaj.org/article/ed8db0b77dc64bc6ba506d50bb9995e1

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  8. 8
    Academic Journal
    Differential regulation of human 3β-hydroxysteroid dehydrogenase type 2 for steroid hormone biosynthesis by starvation and cyclic AMP stimulation: studies in the human adrenal NCI-H295R cell model.

    المؤلفون: Sameer Udhane, Petra Kempna, Gaby Hofer, Primus E Mullis, Christa E Flück

    المصدر: PLoS ONE, Vol 8, Iss 7, p e68691 (2013)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    Relation: http://europepmc.org/articles/PMC3706324?pdf=render; https://doaj.org/toc/1932-6203

    URL الوصول: https://doaj.org/article/569185f0ad2e4967853562b78ec5ef52

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  9. 9
    Academic Journal
    Role of AMP-activated protein kinase on steroid hormone biosynthesis in adrenal NCI-H295R cells.

    المؤلفون: Andrea Hirsch, Dagmar Hahn, Petra Kempná, Gaby Hofer, Primus E Mullis, Jean-Marc Nuoffer, Christa E Flück

    المصدر: PLoS ONE, Vol 7, Iss 1, p e30956 (2012)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    Relation: http://europepmc.org/articles/PMC3266282?pdf=render; https://doaj.org/toc/1932-6203

    URL الوصول: https://doaj.org/article/4f09a50dd7c24c358111cc2d368a4111

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  10. 10
    Academic Journal
    Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia.

    المؤلفون: Christa E Flück, Amit V Pandey, Bernhard Dick, Núria Camats, Mónica Fernández-Cancio, María Clemente, Miquel Gussinyé, Antonio Carrascosa, Primus E Mullis, Laura Audi

    المصدر: PLoS ONE, Vol 6, Iss 5, p e20178 (2011)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    Relation: http://europepmc.org/articles/PMC3103540?pdf=render; https://doaj.org/toc/1932-6203

    URL الوصول: https://doaj.org/article/58a2f64dbb7348168a60f95a53d8d079

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  11. 11
    Academic Journal
    NR5A1 /SF-1 Collaborates with Inhibin α and the Androgen Receptor

    المؤلفون: Rawda Naamneh Elzenaty, Chrysanthi Kouri, Idoia Martinez de Lapiscina, Kay-Sara Sauter, Francisca Moreno, Núria Camats-Tarruella, Christa E. Flück

    المصدر: International Journal of Molecular Sciences, Vol 25, Iss 18, p 10109 (2024)

    مصطلحات موضوعية: steroidogenic factor 1 (SF-1/ NR5A1 ), inhibin α, androgen receptor, disorders of sex development (DSD), 46,XY DSD, hypospadias, Biology (General), QH301-705.5, Chemistry, QD1-999

    Relation: https://www.mdpi.com/1422-0067/25/18/10109; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/0492857898e14b29818dd7e79d180155

    الاتاحة: https://doi.org/10.3390/ijms251810109
    https://doaj.org/article/0492857898e14b29818dd7e79d180155

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  12. 12
    Academic Journal
    A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson–Mendenhall Syndrome in a Paraguayan Patient

    المؤلفون: Maria Natalia Rojas Velazquez, Fabiola Blanco, Ana Ayala-Lugo, Lady Franco, Valerie Jolly, Denisse Di Tore, Idoia Martínez de Lapiscina, Marco Janner, Christa E. Flück, Amit V. Pandey

    المصدر: International Journal of Molecular Sciences, Vol 25, Iss 6, p 3143 (2024)

    مصطلحات موضوعية: Rabson–Mendenhall syndrome, insulin resistance, diabetes mellitus, acanthosis nigricans, tyrosine kinase, insulin, Biology (General), QH301-705.5, Chemistry, QD1-999

    Relation: https://www.mdpi.com/1422-0067/25/6/3143; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/1a966dda846b4c77a79ad9bbe8da962d

    الاتاحة: https://doi.org/10.3390/ijms25063143
    https://doaj.org/article/1a966dda846b4c77a79ad9bbe8da962d

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  13. 13
    Academic Journal
    Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex developmentResearch in context

    المؤلفون: Chrysanthi Kouri, Grit Sommer, Idoia Martinez de Lapiscina, Rawda Naamneh Elzenaty, Lloyd J.W. Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Yee-Ming Chan, Hedi L. Claahsen-van der Grinten, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar l'Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Kenneth MсElreavey, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Kay-Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska

    المصدر: EBioMedicine, Vol 99, Iss , Pp 104941- (2024)

    مصطلحات موضوعية: Steroidogenic factor 1 (SF-1/NR5A1), Differences of sex development (DSD), Broad phenotype, Genetics of sex determination and differentiation, Intersex, Medicine, Medicine (General), R5-920

    Relation: http://www.sciencedirect.com/science/article/pii/S2352396423005078; https://doaj.org/toc/2352-3964; https://doaj.org/article/85fc4633ac7a47e48fff5e498c208fd3

    الاتاحة: https://doi.org/10.1016/j.ebiom.2023.104941
    https://doaj.org/article/85fc4633ac7a47e48fff5e498c208fd3

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  14. 14
    Academic Journal
    Loss of LGR4/GPR48 causes severe neonatal salt wasting due to disrupted WNT signaling altering adrenal zonation

    المؤلفون: Cécily Lucas, Kay-Sara Sauter, Michael Steigert, Delphine Mallet, James Wilmouth, Julie Olabe, Ingrid Plotton, Yves Morel, Daniel Aeberli, Franca Wagner, Hans Clevers, Amit V. Pandey, Pierre Val, Florence Roucher-Boulez, Christa E. Flück

    المصدر: The Journal of Clinical Investigation, Vol 133, Iss 4 (2023)

    مصطلحات موضوعية: Endocrinology, Medicine

    Relation: https://doi.org/10.1172/JCI164915; https://doaj.org/toc/1558-8238; https://doaj.org/article/7c038c7fdaca42ca83fa509abb64c789

    الاتاحة: https://doaj.org/article/7c038c7fdaca42ca83fa509abb64c789

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  15. 15
    Academic Journal
    Stable Metabolic Control but Increased Demand for Professional Support in Children with Type 1 Diabetes in the Past Ten Years in Bern/Switzerland: A Quality Control Study

    المؤلفون: Michelle J. Dennig, Grit Sommer, Tanja Zingg, Christa E. Flück, Claudia Boettcher

    المصدر: Journal of Diabetes Research, Vol 2022 (2022)

    مصطلحات موضوعية: Diseases of the endocrine glands. Clinical endocrinology, RC648-665

    Relation: http://dx.doi.org/10.1155/2022/3170558; https://doaj.org/toc/2314-6753; https://doaj.org/article/304dce15a1544449b539e75a055cbe44

    الاتاحة: https://doi.org/10.1155/2022/3170558
    https://doaj.org/article/304dce15a1544449b539e75a055cbe44

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  16. 16
    Academic Journal
    Short-Term Effects of Elexacaftor/Tezacaftor/Ivacaftor Combination on Glucose Tolerance in Young People With Cystic Fibrosis—An Observational Pilot Study

    المؤلفون: Insa Korten, Elisabeth Kieninger, Linn Krueger, Marina Bullo, Christa E. Flück, Philipp Latzin, Carmen Casaulta, Claudia Boettcher

    المصدر: Frontiers in Pediatrics, Vol 10 (2022)

    مصطلحات موضوعية: cystic fibrosis, elexacaftor/tezacaftor/ivacaftor therapy, oral glucose tolerance test (OGTT), continuous glucose monitoring, glucose tolerance, Pediatrics, RJ1-570

    Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.852551/full; https://doaj.org/toc/2296-2360; https://doaj.org/article/c53d8597246a4f28a9fc85406245ff06

    الاتاحة: https://doi.org/10.3389/fped.2022.852551
    https://doaj.org/article/c53d8597246a4f28a9fc85406245ff06

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  17. 17
    Academic Journal
    Molecular Aspects of Sex Development in Mammals: New Insight for Practice

    المؤلفون: Laura Audí, Silvano Bertelloni, Christa E. Flück

    المصدر: International Journal of Molecular Sciences; Volume 21; Issue 23; Pages: 9146

    مصطلحات موضوعية: n/a

    جغرافية الموضوع: agris

    وصف الملف: application/pdf

    Relation: Biochemistry; https://dx.doi.org/10.3390/ijms21239146

    الاتاحة: https://doi.org/10.3390/ijms21239146

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  18. 18
    Academic Journal
    Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1

    المؤلفون: Idoia Martínez de LaPiscina, Rana AA Mahmoud, Kay-Sara Sauter, Isabel Esteva, Milagros Alonso, Ines Costa, Jose Manuel Rial-Rodriguez, Amaia Rodríguez-Estévez, Amaia Vela, Luis Castano, Christa E. Flück

    المصدر: International Journal of Molecular Sciences; Volume 21; Issue 22; Pages: 8554

    مصطلحات موضوعية: disorder/difference of sex development, DSD, steroidogenic factor 1, NR5A1/SF1, STAR, AMH, FOG2, oligogenic disorders, genotype–phenotype correlation

    جغرافية الموضوع: agris

    وصف الملف: application/pdf

    Relation: Molecular Biology; https://dx.doi.org/10.3390/ijms21228554

    الاتاحة: https://doi.org/10.3390/ijms21228554

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  19. 19
    Academic Journal
    Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia

    المؤلفون: Efstathios Katharopoulos, Natascia Di Iorgi, Paula Fernandez-Alvarez, Amit V. Pandey, Michael Groessl, Shraddha Dubey, Núria Camats, Flavia Napoli, Giuseppa Patti, Marilea Lezzi, Mohamad Maghnie, Christa E. Flück

    المصدر: International Journal of Molecular Sciences; Volume 21; Issue 17; Pages: 6185

    مصطلحات موضوعية: adrenal insufficiency, StAR, steroidogenic acute regulatory protein, lipoid congenital adrenal hyperplasia, rare disease

    جغرافية الموضوع: agris

    وصف الملف: application/pdf

    Relation: Molecular Biology; https://dx.doi.org/10.3390/ijms21176185

    الاتاحة: https://doi.org/10.3390/ijms21176185

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  20. 20
    Academic Journal
    In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant

    المؤلفون: Michal Cohen, Emanuele Pignatti, Monica Dines, Adi Mory, Nina Ekhilevitch, Rachel Kolodny, Christa E. Flück, Dov Tiosano

    المصدر: International Journal of Molecular Sciences; Volume 21; Issue 16; Pages: 5857

    مصطلحات موضوعية: congenital adrenal hyperplasia, CYP21A2, in silico, protein structure, VUS, consurf

    جغرافية الموضوع: agris

    وصف الملف: application/pdf

    Relation: Molecular Biology; https://dx.doi.org/10.3390/ijms21165857

    الاتاحة: https://doi.org/10.3390/ijms21165857

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