نتائج البحث - "Jueppner, Harald"

المساهمون: European Reference networks Endo-ERN, Ministry of Economy and Competitiveness, European Regional Development Fund, European Society for Paediatric Endocrinology

المصدر: European Journal of Endocrinology ; volume 189, issue 1, page 123-131 ; ISSN 0804-4643 1479-683X

الاتاحة: https://doi.org/10.1093/ejendo/lvad085
https://academic.oup.com/ejendo/advance-article-pdf/doi/10.1093/ejendo/lvad085/50879936/lvad085.pdf
https://academic.oup.com/ejendo/article-pdf/189/1/123/50961875/lvad085.pdf

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6

Book

Clinical disorders of phosphate homeostasis

المؤلفون: Liu, Eva S., Jüppner, Harald

المصدر: Feldman and Pike's Vitamin D ; page 281-302 ; ISBN 9780323913386

الاتاحة: http://dx.doi.org/10.1016/b978-0-323-91338-6.00014-8
https://api.elsevier.com/content/article/PII:B9780323913386000148?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:B9780323913386000148?httpAccept=text/plain

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7

Academic Journal

Functional Properties of Two Distinct PTH1R Mutants Associated With Either Skeletal Defects or Pseudohypoparathyroidism

المؤلفون: Portales‐Castillo, Ignacio, Dean, Thomas, Khatri, Ashok, Jüppner, Harald, Gardella, Thomas J

المساهمون: National Institutes of Health

المصدر: JBMR Plus ; volume 6, issue 6 ; ISSN 2473-4039 2473-4039

مصطلحات موضوعية: Orthopedics and Sports Medicine, Endocrinology, Diabetes and Metabolism

الاتاحة: http://dx.doi.org/10.1002/jbm4.10604
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jbm4.10604
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jbm4.10604

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8

Academic Journal

A novel deletion involving the first GNAS exon encoding Gsα causes PHP1A without methylation changes at exon A/B

المؤلفون: Campbell, Devon, Reyes, Monica, Kaygusuz, Sare Betul, Abali, Saygın, Guran, Tulay, Bereket, Abdullah, Kagami, Masayo, Turan, Serap, Jüppner, Harald

المساهمون: National Institutes of Health

المصدر: Bone ; volume 157, page 116344 ; ISSN 8756-3282

الاتاحة: http://dx.doi.org/10.1016/j.bone.2022.116344
https://api.elsevier.com/content/article/PII:S8756328222000205?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S8756328222000205?httpAccept=text/plain

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9

Academic Journal

Expanding homogeneous culture of human primordial germ cell-like cells maintaining germline features without serum or feeder layers

المؤلفون: Kobayashi, Mutsumi, Kobayashi, Misato, Odajima, Junko, Shioda, Keiko, Hwang, Young Sun, Sasaki, Kotaro, Chatterjee, Pranam, Kramme, Christian, Kohman, Richie E., Church, George M., Loehr, Amanda R., Weiss, Robert S., Jüppner, Harald, Gell, Joanna J., Lau, Ching C., Shioda, Toshi

المصدر: Stem Cell Reports ; volume 17, issue 3, page 507-521 ; ISSN 2213-6711

الاتاحة: http://dx.doi.org/10.1016/j.stemcr.2022.01.012
https://api.elsevier.com/content/article/PII:S221367112200056X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S221367112200056X?httpAccept=text/plain

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10

Academic Journal

Rare genetic disorders that impair parathyroid hormone synthesis, secretion, or bioactivity provide insights into the diagnostic utility of different parathyroid hormone assays

المؤلفون: Höppner, Jakob, Jüppner, Harald

المصدر: Current Opinion in Nephrology & Hypertension ; volume 33, issue 4, page 375-382 ; ISSN 1062-4821 1473-6543

الاتاحة: http://dx.doi.org/10.1097/mnh.0000000000000999
https://journals.lww.com/10.1097/MNH.0000000000000999

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11

Academic Journal

Epileptic seizures and abnormal tooth development as primary presentation of pseudohypoparathyroidism type 1B

المؤلفون: Van der Biest, Anne-Marie, Jüppner, Harald, Andreescu, Corina, Bravenboer, Bert

المصدر: BMJ Case Reports ; volume 17, issue 2, page e258403 ; ISSN 1757-790X

الاتاحة: http://dx.doi.org/10.1136/bcr-2023-258403
https://syndication.highwire.org/content/doi/10.1136/bcr-2023-258403

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12

Academic Journal

Backbone Modification Provides a Long-Acting Inverse Agonist of Pathogenic, Constitutively Active PTH1R Variants

المؤلفون: Liu, Shi, Daley, Eileen J., Tran, Lauren My-Linh, Yu, Zhen, Reyes, Monica, Dean, Thomas, Khatri, Ashok, Levine, Paul M., Balana, Aaron T., Pratt, Matthew R., Jüppner, Harald, Gellman, Samuel H., Gardella, Thomas J.

المساهمون: Foundation for the National Institutes of Health, William F. Vilas Trust Estate, Chemistry-Biology Interface Training

المصدر: Journal of the American Chemical Society ; volume 146, issue 10, page 6522-6529 ; ISSN 0002-7863 1520-5126

الاتاحة: http://dx.doi.org/10.1021/jacs.3c09694
https://pubs.acs.org/doi/pdf/10.1021/jacs.3c09694

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13

Academic Journal

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

المؤلفون: Mantovani, Giovanna, Bastepe, Murat, Monk, David, de Sanctis, Luisa, Thiele, Susanne, Ahmed, S Faisal, Bufo, Roberto, Choplin, Timothée, De Filippo, Gianpaolo, Devernois, Guillemette, Eggermann, Thomas, Elli, Francesca M, Garcia Ramirez, Aurora, Germain-Lee, Emily L, Groussin, Lionel, Hamdy, Neveen A T, Hanna, Patrick, Hiort, Olaf, Jüppner, Harald, Kamenický, Peter, Knight, Nina, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A, Mäkitie, Outi, Martin, Regina, Martos-Moreno, Gabriel Ángel, Minagawa, Manasori, Murray, Philip, Pereda, Arrate, Pignolo, Robert, Rejnmark, Lars, Rodado, Rebeca, Rothenbuhler, Anya, Saraff, Vrinda, Shoemaker, Ashley H, Shore, Eileen M, Silve, Caroline, Turan, Serap, Woods, Philip, Zillikens, M Carola, Perez de Nanclares, Guiomar, Linglart, Agnès

المساهمون: Mantovani, Giovanna, Bastepe, Murat, Monk, David, de Sanctis, Luisa, Thiele, Susanne, Ahmed, S Faisal, Bufo, Roberto, Choplin, Timothée, De Filippo, Gianpaolo, Devernois, Guillemette, Eggermann, Thoma, Elli, Francesca M, Garcia Ramirez, Aurora, Germain-Lee, Emily L, Groussin, Lionel, Hamdy, Neveen A T, Hanna, Patrick, Hiort, Olaf, Jüppner, Harald, Kamenický, Peter, Knight, Nina, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A, Mäkitie, Outi, Martin, Regina, Martos-Moreno, Gabriel Ángel, Minagawa, Manasori, Murray, Philip, Pereda, Arrate, Pignolo, Robert, Rejnmark, Lar, Rodado, Rebeca, Rothenbuhler, Anya, Saraff, Vrinda, Shoemaker, Ashley H, Shore, Eileen M, Silve, Caroline, Turan, Serap, Woods, Philip, Zillikens, M Carola, Perez de Nanclares, Guiomar, Linglart, Agnès

مصطلحات موضوعية: Acrodysostosi, Bone disorder, Brachydactyly, Calcium and phosphate metabolism, Consensu, Diagnosi, Management, Ossification, Parathyroid hormone, Pseudohypoparathyroidism, Treatment

Relation: info:eu-repo/semantics/altIdentifier/pmid/32756064; info:eu-repo/semantics/altIdentifier/wos/WOS:000570204500006; volume:93; issue:3; firstpage:182-196; lastpage:196; numberofpages:15; journal:HORMONE RESEARCH IN PAEDIATRICS; http://hdl.handle.net/2318/1767394; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089824135

الاتاحة: http://hdl.handle.net/2318/1767394
https://doi.org/10.1159/000508985

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14

Academic Journal

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders : An Updated Practical Tool for Physicians and Patients

المؤلفون: Mantovani, Giovanna, Bastepe, Murat, Monk, David, De Sanctis, Luisa, Thiele, Susanne, Ahmed, S. Faisal, Bufo, Roberto, Choplin, Timothee, De Filippo, Gianpaolo, Devernois, Guillemette, Eggermann, Thomas, Elli, Francesca M., Garcia Ramirez, Aurora, Germain-Lee, Emily L., Groussin, Lionel, Hamdy, Neveen A. T., Hanna, Patrick, Hiort, Olaf, Jueppner, Harald, Kamenicky, Peter, Knight, Nina, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A., Mäkitie, Outi, Martin, Regina, Martos-Moreno, Gabriel Angel, Minagawa, Manasori, Murray, Philip, Pereda, Arrate, Pignolo, Robert, Rejnmark, Lars, Rodado, Rebeca, Rothenbuhler, Anya, Saraff, Vrinda, Shoemaker, Ashley H., Shore, Eileen M., Silve, Caroline, Turan, Serap, Woods, Philip, Zillikens, M. Carola, Perez de Nanclares, Guiomar, Linglart, Agnes

المساهمون: HUS Children and Adolescents, Clinicum, Lastentautien yksikkö, Children's Hospital, University of Helsinki, Helsinki University Hospital Area

وصف الملف: application/pdf

Relation: The European Network on Pseudohypoparathyroidism (EuroPHPnet), which promoted the consensus, was funded by an ESPE grant to A.L. The consensus statement and the series of consensus meetings were supported by funds from the COST action BM1208 on imprinting disorders (www.imprinting-disorders.eu), the ESPE, and the ESE. Travel costs and housing of the representatives of the APPES and of the PES were supported by their societies. We received no funding from pharmaceutical companies.; Mantovani , G , Bastepe , M , Monk , D , De Sanctis , L , Thiele , S , Ahmed , S F , Bufo , R , Choplin , T , De Filippo , G , Devernois , G , Eggermann , T , Elli , F M , Garcia Ramirez , A , Germain-Lee , E L , Groussin , L , Hamdy , N A T , Hanna , P , Hiort , O , Jueppner , H , Kamenicky , P , Knight , N , Le Norcy , E , Lecumberri , B , Levine , M A , Mäkitie , O , Martin , R , Martos-Moreno , G A , Minagawa , M , Murray , P , Pereda , A , Pignolo , R , Rejnmark , L , Rodado , R , Rothenbuhler , A , Saraff , V , Shoemaker , A H , Shore , E M , Silve , C , Turan , S , Woods , P , Zillikens , M C , Perez de Nanclares , G & Linglart , A 2020 , ' Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders : An Updated Practical Tool for Physicians and Patients ' , Hormone research in paediatrics , vol. 93 , no. 3 , pp. 182-196 . https://doi.org/10.1159/000508985; ORCID: /0000-0002-4547-001X/work/155651939; http://hdl.handle.net/10138/332839; 44877169-dc8b-4984-96e2-e0ec92220465; 000570204500006

الاتاحة: http://hdl.handle.net/10138/332839

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15

Academic Journal

Parathyroid hormone receptors in GtoPdb v.2021.3

المؤلفون: Bisello, Alessandro, Chorev, Michael, Friedman, Peter A., Gardella, Tom, Hills, Rebecca, Jueppner, Harald, Martin, T. John, Nissenson, Robert A., Potts, Jr., John Thomas, Silve, Caroline, Usdin, Ted B., Vilardaga, Jean-Pierre

المصدر: IUPHAR/BPS Guide to Pharmacology CITE; Vol 2021 No 3 (2021) ; 2633-1020

وصف الملف: application/pdf; text/html

Relation: http://journals.ed.ac.uk/gtopdb-cite/article/view/6403/8612; http://journals.ed.ac.uk/gtopdb-cite/article/view/6403/8613; http://journals.ed.ac.uk/gtopdb-cite/article/view/6403/8614; http://journals.ed.ac.uk/gtopdb-cite/article/view/6403

الاتاحة: http://journals.ed.ac.uk/gtopdb-cite/article/view/6403
https://doi.org/10.2218/gtopdb/F53/2021.3

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16

Academic Journal

A Distinct Variant of Pseudohypoparathyroidism ( PHP) First Characterized Some 41 Years Ago Is Caused by the 3‐kb STX16 Deletion

المؤلفون: Kiuchi, Zentaro, Reyes, Monica, Brickman, Arnold S, Jüppner, Harald

المساهمون: National Institute of Diabetes and Digestive and Kidney Diseases

المصدر: JBMR Plus ; volume 5, issue 7 ; ISSN 2473-4039 2473-4039

مصطلحات موضوعية: Orthopedics and Sports Medicine, Endocrinology, Diabetes and Metabolism

الاتاحة: http://dx.doi.org/10.1002/jbm4.10505
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jbm4.10505
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jbm4.10505

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17

Academic Journal

Stimulatory G Protein Directly Regulates Hypertrophic Differentiation of Growth Plate Cartilage in vivo

المؤلفون: Bastepe, Murat, Weinstein, Lee S., Ogata, Naoshi, Kawaguchi, Hiroshi, Jüppner, Harald, Kronenberg, Henry M., Chung, Ung-il, Birnbaumer, Lutz

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2004 Oct 01. 101(41), 14794-14799.

URL الوصول: https://www.jstor.org/stable/3373636

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18

Academic Journal

GNAS, PDE4D, and PRKAR1A Mutations and GNAS Methylation Changes Are Not a Common Cause of Isolated Early-Onset Severe Obesity Among Finnish Children

المؤلفون: Loid, Petra, Pekkinen, Minna, Reyes, Monica, Mustila, Taina, Viljakainen, Heli, Jüppner, Harald, Mäkitie, Outi

المساهمون: HUS Children and Adolescents, Children's Hospital, University of Helsinki, Helsinki University Hospital Area, CAMM - Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, Research Programs Unit, Clinicum, Department of Food and Nutrition, Lastentautien yksikkö

مصطلحات موضوعية: Gynaecology and paediatrics, GNAS, G protein-cAMP-signaling, childhood-onset obesity, pseudohypoparathyroidism, acrodysostosis

وصف الملف: application/pdf

Relation: Loid , P , Pekkinen , M , Reyes , M , Mustila , T , Viljakainen , H , Jüppner , H & Mäkitie , O 2020 , ' GNAS, PDE4D, and PRKAR1A Mutations and GNAS Methylation Changes Are Not a Common Cause of Isolated Early-Onset Severe Obesity Among Finnish Children ' , Frontiers in pediatrics , vol. 8 , 145 . https://doi.org/10.3389/fped.2020.00145; RIS: urn:0A8BBADDE0D22422C947E6CE773B8262; ORCID: /0000-0002-7486-3437/work/75466528; ORCID: /0000-0002-4547-001X/work/155651791; http://hdl.handle.net/10138/315435; 93f65703-c903-47f0-a606-4b67393d9dfc; 000528844400001

الاتاحة: http://hdl.handle.net/10138/315435

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