المؤلفون: Mónica Fernández-Cancio, María Antolín, María Clemente, Ariadna Campos-Martorell, Eduard Mogas, Noelia Baz-Redón, Jordi Leno-Colorado, Gemma Comas-Armangué, Elena García-Arumí, Laura Soler-Colomer, Núria González-Llorens, Núria Camats-Tarruella, Diego Yeste

المصدر: Frontiers in Endocrinology, Vol 15 (2024)

مصطلحات موضوعية: congenital hypothyroidism, thyroid dyshormonogenesis, thyroglobulin, TG, gene variant, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2024.1367808/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/488622cb30184b09bcb312808aad3740Test

المؤلفون: Valeria Calcaterra, Rossella Lamberti, Claudia Viggiano, Sara Gatto, Luigina Spaccini, Gianluca Lista, Gianvincenzo Zuccotti

المصدر: Pediatric Reports, Vol 13, Iss 2, Pp 210-215 (2021)

مصطلحات موضوعية: congenital goiter, primary congenital hypothyroidism, thyroid dyshormonogenesis, newborn, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2036-7503/13/2/29Test; https://doaj.org/toc/2036-7503Test

الوصول الحر: https://doaj.org/article/b03b858bac0d40bdb5ae4967b118142aTest

المؤلفون: Tsai, Ching-Chao, Chang, Yu-Ming, Chou, Yen-Yin, Chen, Shou-Yen, Pan, Yu-Wen, Tsai, Meng-Che

المصدر: Kaohsiung J Med Sci ; ISSN:2410-8650

مصطلحات موضوعية: congenital hypothyroidism, genetic variation, thyroid diseases, thyroid dyshormonogenesis, whole exome sequencing

العلاقة: https://doi.org/10.1002/kjm2.12871Test; https://pubmed.ncbi.nlm.nih.gov/38923290Test

الإتاحة: https://doi.org/10.1002/kjm2.12871Test
https://pubmed.ncbi.nlm.nih.gov/38923290Test

المؤلفون: Kinnaree Sorapipatcharoen, Thipwimol Tim-Aroon, Pat Mahachoklertwattana, Wasun Chantratita, Nareenart Iemwimangsa, Insee Sensorn, Bhakbhoom Panthan, Poramate Jiaranai, Saisuda Noojarern, Patcharin Khlairit, Sarunyu Pongratanakul, Chittiwat Suprasongsin, Manassawee Korwutthikulrangsri, Chutintorn Sriphrapradang, Preamrudee Poomthavorn

المصدر: Endocrine Connections, Vol 9, Iss 11, Pp 1121-1134 (2020)

مصطلحات موضوعية: congenital hypothyroidism, next generation sequencing, duox2, thyroid dyshormonogenesis, thyroid dysgenesis, goiter, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://ec.bioscientifica.com/view/journals/ec/aop/ec-20-0411/ec-20-0411.xmlTest; https://doaj.org/toc/2049-3614Test

الوصول الحر: https://doaj.org/article/a1a308f866004555bf0676538b2eff7aTest

المؤلفون: Carlos Eduardo Bernal Barquero, Romina Celeste Geysels, Virginie Jacques, Gerardo Hernán Carro, Mariano Martín, Victoria Peyret, María Celeste Abregú, Patricia Papendieck, Ana María Masini-Repiso, Frédérique Savagner, Ana Elena Chiesa, Cintia E. Citterio, Juan Pablo Nicola

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 16; Pages: 9251

مصطلحات موضوعية: congenital hypothyroidism, thyroid dyshormonogenesis, iodide transport defect, sodium iodide symporter, thyroglobulin

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Endocrinology and Metabolism; https://dx.doi.org/10.3390/ijms23169251Test

الإتاحة: https://doi.org/10.3390/ijms23169251Test

المؤلفون: Bernal Barquero, Carlos Eduardo, Geysels, Romina Celeste, Jacques, Virginie, Carro, Gerardo Hérnan, Martín, Mariano, Peyret, Victoria, Abregú, María Celeste, Papendieck, Patricia, Masini-Repiso, Ana María, Savagner, Frédérique, Chiesa, Ana Elena, Citterio, Cintia E., Nicola, Juan Pablo

المصدر: Pharmacy Faculty Articles and Research

مصطلحات موضوعية: congenital hypothyroidism, thyroid dyshormonogenesis, iodide transport defect, sodium iodide symporter, thyroglobulin, Endocrine System Diseases, Endocrinology, Diabetes, and Metabolism, Hormones, Hormone Substitutes, and Hormone Antagonists, Other Pharmacy and Pharmaceutical Sciences

وصف الملف: application/pdf

العلاقة: https://digitalcommons.chapman.edu/pharmacy_articles/1023Test; https://digitalcommons.chapman.edu/context/pharmacy_articles/article/2023/viewcontent/Targeted_Next_Generation_Sequencing_of_Congenital_Hypothyroidism_causative_Genes_Reveals_Unexpected_Thyroglobulin_Gene_Variants_in_Patients_with_Iodide_Transport_Defect.pdfTest

الإتاحة: https://doi.org/10.3390/ijms23169251Test
https://digitalcommons.chapman.edu/pharmacy_articles/1023Test
https://digitalcommons.chapman.edu/context/pharmacy_articles/article/2023/viewcontent/Targeted_Next_Generation_Sequencing_of_Congenital_Hypothyroidism_causative_Genes_Reveals_Unexpected_Thyroglobulin_Gene_Variants_in_Patients_with_Iodide_Transport_Defect.pdfTest

المؤلفون: Isabelle Oliver-Petit, Thomas Edouard, Virginie Jacques, Marie Bournez, Audrey Cartault, Solange Grunenwald, Frédérique Savagner

المصدر: Frontiers in Endocrinology, Vol 12 (2021)

مصطلحات موضوعية: high throughput molecular screening, familial origin, oligogenicity, congenital hypothyroidism, thyroid dyshormonogenesis, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2021.657913/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/c52b1222859e47728c30e402f56cb326Test

المؤلفون: Oliver-Petit, Isabelle, Edouard, Thomas, Jacques, Virginie, Bournez, Marie, Cartault, Audrey, Grunenwald, Solange, Savagner, Frédérique

المساهمون: Service Endocrinologie, génétique et gynécologie médicale pédiatrique CHU Toulouse, Pôle Enfants CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Institut des Maladies Métaboliques et Casdiovasculaires (UPS/Inserm U1297 - I2MC), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Biochimie CHU Toulouse, Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Biologie CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital d'Enfants CHU Dijon, Hôpital du Bocage, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service Endocrinologie, maladies métaboliques et nutrition CHU Toulouse, Pôle Cardiovasculaire et Métabolique CHU Toulouse

المصدر: ISSN: 1664-2392 ; Frontiers in Endocrinology ; https://hal.science/hal-04565642Test ; Frontiers in Endocrinology, 2021, 12, ⟨10.3389/fendo.2021.657913⟩.

مصطلحات موضوعية: congenital hypothyroidism, familial origin, high throughput molecular screening, oligogenicity, thyroid dyshormonogenesis, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34248839; hal-04565642; https://hal.science/hal-04565642Test; https://hal.science/hal-04565642/documentTest; https://hal.science/hal-04565642/file/OLIVIER-PETIT_2021.pdfTest; PUBMED: 34248839; PUBMEDCENTRAL: PMC8264654

الإتاحة: https://doi.org/10.3389/fendo.2021.657913Test
https://hal.science/hal-04565642Test
https://hal.science/hal-04565642/documentTest
https://hal.science/hal-04565642/file/OLIVIER-PETIT_2021.pdfTest

المؤلفون: Kanshi Minamitani

المصدر: International Journal of Neonatal Screening; Volume 7; Issue 3; Pages: 34

مصطلحات موضوعية: newborn screening, lowering of thyroid stimulating hormone screening cutoffs, thyroid dysgenesis, thyroid dyshormonogenesis, transient congenital hypothyroidism, permanent congenital hypothyroidism, delayed rise in TSH, low birth weight

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/ijns7030034Test

الإتاحة: https://doi.org/10.3390/ijns7030034Test

المؤلفون: Claudia Viggiano, Gianluca Lista, Valeria Calcaterra, Luigina Spaccini, Rossella Lamberti, Gian Vincenzo Zuccotti, Sara Gatto

المصدر: Pediatric Reports, Vol 13, Iss 29, Pp 210-215 (2021)
Pediatric Reports

مصطلحات موضوعية: medicine.medical_specialty, endocrine system, Goiter, endocrine system diseases, medicine.medical_treatment, 030209 endocrinology & metabolism, Case Report, Thyroid function tests, Pediatrics, RJ1-570, congenital goiter, 03 medical and health sciences, 0302 clinical medicine, Thyroid dyshormonogenesis, primary congenital hypothyroidism, newborn, 030225 pediatrics, Internal medicine, medicine, biology, medicine.diagnostic_test, business.industry, Primary hypothyroidism, Pendrin, medicine.disease, thyroid dyshormonogenesis, Thyroid disorder, Endocrinology, Transgender hormone therapy, biology.protein, Medicine, Thyroglobulin, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f833724f105c0dfa36b1817b3dc29c5Test
https://www.mdpi.com/2036-7503/13/2/29Test