المؤلفون: Fabio Sippelli, Silvana Briuglia, Chiara Ferraloro, Anna Paola Capra, Emanuele Agolini, Tiziana Abbate, Giorgia Pepe, Tommaso Aversa, Malgorzata Wasniewska, Domenico Corica

المصدر: BMC Pediatrics, Vol 24, Iss 1, Pp 1-8 (2024)

مصطلحات موضوعية: PHP1A, Albright hereditary osteodystrophy, PTH resistance, GNAS mutation, Genotype–phenotype variability, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/b3347a76c4a2470bb7a3e070a6b215ba

المؤلفون: Wan Jinxing, He Dongjuan, Xie Jun, Chen Zhizhi

المصدر: Open Life Sciences, Vol 19, Iss 1, Pp e230104-73 (2024)

مصطلحات موضوعية: poh overlap syndrome, congenital hypothyroidism, inheritance gnas mutation, pseudohypoparathyroidism, albright hereditary osteodystrophy, deformity, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2391-5412

URL الوصول: https://doaj.org/article/949db29a62f5475e9bea769f0ebc65ac

المؤلفون: Sebastian Giraldo-Ocampo, Harry Pachajoa

المصدر: BMC Pediatrics, Vol 22, Iss 1, Pp 1-4 (2022)

مصطلحات موضوعية: Albright hereditary osteodystrophy-like syndrome (AHO-like), Brachydactyly-mental retardation syndrome (BDMR), Macrocephaly, Case report, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/b59a575bfcc3415191f5a5ffcf2be623

المؤلفون: Qing Zhou, Bin Liang, Qing-Xian Fu, Hui Liu, Chao-Chun Zou

المصدر: Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-5 (2022)

مصطلحات موضوعية: Pseudohypoparathyroidism, Pseudo-pseudohypoparathyroidism, GNAS gene, Albright hereditary osteodystrophy, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1824-7288

URL الوصول: https://doaj.org/article/a3d3ee143c3040aeb0e32c3a339bfd8f

المؤلفون: Sahar Noor, Nasrin Hakimzada, Nijatullah Safi, Sultan Mahmood Alikozai, Abdul Jamil Rasooli, Tooryalai Jalalzai, Qais Siddiqui, Ahmad Jalil Sestani, Najla Nasir, Sarah Noor, Ahmed Maseh Haidary, Saifullah Khalid

المصدر: Clinical Case Reports, Vol 11, Iss 1, Pp n/a-n/a (2023)

مصطلحات موضوعية: Albright hereditary osteodystrophy, brachydactyly, hypocalcaemia, pseudohypoparathyrodism, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/981cd91845b645da91ea791e88fdb96e

المؤلفون: Jeffrey S. Smith, MD, PhD, Abdulrahman A. Aldeeri, MD, Scott A. Elman, MD, Joel B. Krier, MD, Joseph F. Merola, MD, MMSc

المصدر: JAAD Case Reports, Vol 21, Iss , Pp 103-105 (2022)

مصطلحات موضوعية: Albright hereditary osteodystrophy, genodermatoses, G protein, GNAS, GPCR, pseudopseudohypoparathyroidism, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352512622000121; https://doaj.org/toc/2352-5126

URL الوصول: https://doaj.org/article/ec5ba2d2f7df42438556e8f676a4c305

المؤلفون: Caravaglio, Joseph V, Gupta, Rema, Weinstein, David

المصدر: Dermatology Online Journal. 23(3)

مصطلحات موضوعية: Albright hereditary osteodystrophy, osteoma cutis, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acne vulgaris, cutaneous ossification, case report

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7513d80h

المؤلفون: Kaufman, Bridget P, Marchalik, Rachel, Cheng, Kyle, Norton, Scott A

المصدر: Dermatology Online Journal. 23(9)

مصطلحات موضوعية: osteoma cutis, ectopic bone, pseudohypoparathyroidism type-Ia, PHP1A, Albright hereditary osteodystrophy, AHO

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1m10p8zg

المؤلفون: Demaret, Tanguy, Wintjens, René, Sana, Gwenaelle, Docquir, Joachim, Bertin, Frederic, Ide, Christophe, Monestier, Olivier, Karadurmus, Deniz, Benoit, Valerie, Maystadt, Isabelle

المصدر: Demaret , T , Wintjens , R , Sana , G , Docquir , J , Bertin , F , Ide , C , Monestier , O , Karadurmus , D , Benoit , V & Maystadt , I 2022 , ' Case Report : Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance ' , Frontiers in endocrinology , vol. 13 , 928284 . https://doi.org/10.3389/fendo.2022.928284

مصطلحات موضوعية: Albright hereditary osteodystrophy, alfacalcidol, epilepsy, GNAS, iPPSD1, parathyroid hormone, pseudohypoparathyreoidism, PTH1R

وصف الملف: application/pdf

الاتاحة: https://researchportal.unamur.be/en/publications/b333ccb2-5ded-400f-9369-88538309a14b
https://doi.org/10.3389/fendo.2022.928284
https://pure.unamur.be/ws/files/68734259/fendo_13_928284.pdf
http://www.scopus.com/inward/record.url?scp=85134190875&partnerID=8YFLogxK

المؤلفون: Demaret, Tanguy, Wintjens, René, Sana, Gwenaëlle, Docquir, Joachim, Bertin, Frederic, Ide, Christophe, Monestier, Olivier, Karadurmus, Deniz, Benoit, Valérie, Maystadt, Isabelle

المصدر: Frontiers in endocrinology, 13

مصطلحات موضوعية: Sciences bio-médicales et agricoles, Humans, Hyperphosphatemia, Hypocalcemia -- complications, Parathyroid Hormone -- metabolism, Parathyroid Hormone-Related Protein, Pseudohypoparathyroidism -- diagnosis -- genetics, Albright hereditary osteodystrophy, GNAS, PTH1R, alfacalcidol, epilepsy, iPPSD1, parathyroid hormone, pseudohypoparathyreoidism

وصف الملف: 2 full-text file(s): application/pdf | application/pdf

Relation: uri/info:doi/10.3389/fendo.2022.928284; uri/info:pmid/35846276; uri/info:scp/85134190875; uri/info:pmcid/PMC9280615; https://dipot.ulb.ac.be/dspace/bitstream/2013/349751/5/Demaret-2022.pdf; https://dipot.ulb.ac.be/dspace/bitstream/2013/349751/1/doi_333395.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/349751

الاتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/349751
https://dipot.ulb.ac.be/dspace/bitstream/2013/349751/5/Demaret-2022.pdf
https://dipot.ulb.ac.be/dspace/bitstream/2013/349751/1/doi_333395.pdf

المؤلفون: BEREKET, ABDULLAH, DEMİRCİOĞLU, SERAP, GÜRAN, TÜLAY

المساهمون: Campbell D., Reyes M., Kaygusuz S. B., Abalı S., Güran T., Bereket A., Kagami M., Turan S., Jüppner H.

مصطلحات موضوعية: Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, Çocuk Sağlığı ve Hastalıkları, Pediatrik Endokrinoloji ve Metabolizma, Medicine, Health Sciences, Internal Medicine Sciences, Child Health and Diseases, Pediatric Endocrinology and Metabolism, Klinik Tıp (MED), Klinik Tıp, TIP, GENEL & DAHİLİ, PEDİATRİ, Clinical Medicine (MED), CLINICAL MEDICINE, GENERAL & INTERNAL, PEDIATRICS, Family Practice, Fundamentals and Skills, General Health Professions, Pathophysiology, Perinatology and Child Health, Internal Medicine, Assessment and Diagnosis, Medicine (miscellaneous), General Medicine, Pseudohypoparathyroidism type Ia (PHP1A), Albright hereditary osteodystrophy

وصف الملف: application/pdf

Relation: Bone; Campbell D., Reyes M., Kaygusuz S. B., Abalı S., Güran T., Bereket A., Kagami M., Turan S., Jüppner H., "A novel deletion involving the first GNAS exon encoding Gsα causes PHP1A without methylation changes at exon A/B", Bone, cilt.157, 2022; https://hdl.handle.net/11424/287115; 157

الاتاحة: https://hdl.handle.net/11424/287115
https://doi.org/10.1016/j.bone.2022.116344

المؤلفون: Esra KUTLU, İlker Tolga ÖZGEN, Yaşar CESUR, Gözde YEŞİL

المصدر: Bezmiâlem Science, Vol 7, Iss 2, Pp 170-173 (2019)

مصطلحات موضوعية: Pseudohypoparathyroidism, albright hereditary osteodystrophy, normocalcemia, short stature, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://bezmialemscience.org/archives/archive-detail/article-preview/pseudohypoparathyroidism-type-a-with-normocalcemia/20592; https://doaj.org/toc/2148-2373

URL الوصول: https://doaj.org/article/716e71b8788e40be863ba7e4f75f80ae

المؤلفون: Antunes Reis, Mariana Tenorio, Cattani, Andreina, Mendonca, Berenice Bilharinho, Silveira Correa, Pedro Henrique, Martin, Regina Matsunaga

مصطلحات موضوعية: ALBRIGHT HEREDITARY OSTEODYSTROPHY, MOLECULAR ANALYSIS, GENE, 03 Good Health and Well-being, 03 Salud y bienestar

وصف الملف: 4 páginas; application/pdf

Relation: MEDLINE:21340160; https://doi.org/10.1590/S0004-27302010000800011; https://repositorio.uc.cl/handle/11534/76881; WOS:000286690400011

الاتاحة: https://repositorio.uc.cl/handle/11534/76881
https://doi.org/10.1590/S0004-27302010000800011

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

مصطلحات موضوعية: Acrodysostosis, Bone disorders, Brachydactyly, Calcium and phosphate metabolism, Consensus, Diagnosis, Management, Ossification, Parathyroid hormone, Pseudohypoparathyroidism, Treatment, ALBRIGHT HEREDITARY OSTEODYSTROPHY, PROGRESSIVE OSSEOUS HETEROPLASIA, IDENTIFIES PDE4D MUTATIONS, HORMONE-RELEASING-HORMONE, STIMULATORY G-PROTEIN, PSEUDO-PSEUDOHYPOPARATHYROIDISM, SKELETAL RESPONSIVENESS, INCREASED PREVALENCE, PARATHYROID-HORMONE, ENERGY-EXPENDITURE, Gynaecology and paediatrics

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

المؤلفون: Francesca Marta Elli, Paolo Bordogna, Maura Arosio, Anna Spada, Giovanna Mantovani

المصدر: Clinical Epigenetics, Vol 10, Iss 1, Pp 1-10 (2018)

مصطلحات موضوعية: GNAS, Imprinting, Mosaicism, Pseudohypoparathyroidism, Albright hereditary osteodystrophy, PTH resistance, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13148-018-0449-4; https://doaj.org/toc/1868-7075; https://doaj.org/toc/1868-7083

URL الوصول: https://doaj.org/article/713d51142b784100a51ad6e92cc60046

المؤلفون: DEMİRCİOĞLU, SERAP

المساهمون: 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., Maekitie, 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

مصطلحات موضوعية: Acrodysostosis, Bone disorders, Brachydactyly, Calcium and phosphate metabolism, Consensus, Diagnosis, Management, Ossification, Parathyroid hormone, Pseudohypoparathyroidism, Treatment, ALBRIGHT HEREDITARY OSTEODYSTROPHY, PROGRESSIVE OSSEOUS HETEROPLASIA, IDENTIFIES PDE4D MUTATIONS, HORMONE-RELEASING-HORMONE, STIMULATORY G-PROTEIN, PSEUDO-PSEUDOHYPOPARATHYROIDISM, SKELETAL RESPONSIVENESS, INCREASED PREVALENCE, PARATHYROID-HORMONE, ENERGY-EXPENDITURE

وصف الملف: application/pdf

Relation: HORMONE RESEARCH IN PAEDIATRICS; https://hdl.handle.net/11424/243146; WOS:000570204500006

الاتاحة: https://hdl.handle.net/11424/243146
https://doi.org/10.1159/000508985

المؤلفون: Stamenković-Pejković Danica, Gligić Ana, Cvijović Goran, Zorić Svetlana, Jeremić Danka A., Polovina Snežana, Kendereški Aleksandra, Micić Dragan, Šumarac-Dumanović Mirjana

المصدر: Medicinski Glasnik Specijalne Bolnice za Bolesti Štitaste Žlezde i Bolesti Metabolizma "Zlatibor", Vol 21, Iss 62, Pp 14-27 (2016)

مصطلحات موضوعية: pseudopseudohypoparathyroidism, albright hereditary osteodystrophy, albright hereditary osteodystrophy like syndrome, gnas 1 gene, Medicine

وصف الملف: electronic resource

Relation: https://scindeks-clanci.ceon.rs/data/pdf/1821-1925/2016/1452-09231662014S.pdf; https://doaj.org/toc/1821-1925; https://doaj.org/toc/2406-131X

URL الوصول: https://doaj.org/article/2304eb43368a4b1cba23d22dd9012dd4

المؤلفون: Francesca Marta Elli, Luisa de Sanctis, Bruno Madeo, Maria A. Maffini, Paolo Bordogna, Arianna Pirelli, Maura Arosio, Giovanna Mantovani

المصدر: Frontiers in Endocrinology, Vol 10 (2019)

مصطلحات موضوعية: pseudohypoparathyroidism, Albright hereditary osteodystrophy, brachydactyly-mental retardation syndrome, GNAS, 2q37 deletion, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fendo.2019.00604/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/65318b4ab0a44be5bc2919fa36bd3638

المؤلفون: I. Sadaf Farooqi

المصدر: Clinical Obesity in Adults and Children

مصطلحات موضوعية: medicine.medical_specialty, Prohormone Convertase 1 Deficiency, Biology, medicine.disease, Obesity, Congenital leptin deficiency, Albright hereditary osteodystrophy, Endocrinology, Energy expenditure, Internal medicine, Genetic variation, Genotype, medicine, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91d649d655727c5f36af3223a49f9fbd
https://doi.org/10.1002/9781119695257.ch4

المؤلفون: Gabriel Ángel Martos-Moreno, Beatriz Lecumberri, Guiomar Pérez de Nanclares

المصدر: Anales de Pediatría, Vol 90, Iss 2, Pp 125.e1-125.e12 (2019)

مصطلحات موضوعية: Pseudohypoparathyroidism, PHP, Albright hereditary osteodystrophy, AHO, Acrodysostosis, GNAS, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1695403318305459; https://doaj.org/toc/1695-4033

URL الوصول: https://doaj.org/article/4ff1b169c1e84727828039b22831db88