نتائج البحث

1

Rapid methods to create a positive control and identify the PAX8/PPARγ rearrangement in FNA thyroid samples by molecular biology

المؤلفون: Marco Matuozzo, Emilia Vuttariello, Elio Biffali, Valentina Sica, Gennaro Chiappetta, Anna Capiluongo, Mario Monaco, Raimondo Pannone, Gerardo Botti, Maria Grazia Chiofalo, Concetta Aiello

المصدر: Oncotarget

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::302b8461655aaf4c0fda8d15cc09759aTest
https://doi.org/10.18632/oncotarget.24995Test

2

دورية أكاديمية

Analysis of the PAX8 gene in 32 children with thyroid dysgenesis and functional characterization of a promoter variant

المؤلفون: Perone, Denise, Medeiros-Neto, Geraldo, Nogueira, Célia Regina, Chagas, Antonio José, Alves Dias, Vera Maria, Viana, Maria Fátima, Kopp, Peter

المساهمون: Universidade Estadual Paulista (UNESP)

مصطلحات موضوعية: congenital hypothyroidism, mutation, PAX8 gene, promoter, thyroid dysgenesis, transcription factor

وصف الملف: 193-201

العلاقة: Journal of Pediatric Endocrinology and Metabolism; 0,465; http://dx.doi.org/10.1515/jpem-2015-0199Test; Journal of Pediatric Endocrinology and Metabolism, v. 29, n. 2, p. 193-201, 2016.; http://hdl.handle.net/11449/176901Test; 2-s2.0-84958167414

الإتاحة: https://doi.org/10.1515/jpem-2015-0199Test
http://hdl.handle.net/11449/176901Test

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3

Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands

المؤلفون: Carina M. Rivolta, Sebastián A. Esperante, V Herzovich, Marco Baralle, Héctor M. Targovnik, Lucrecia Miravalle, Sonia Iorcansky

المصدر: Clinical Endocrinology. 68:828-835

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85f3867ec6cee2665bd8f5afe679dc7eTest
https://doi.org/10.1111/j.1365-2265.2007.03111.xTest

4

Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism

المؤلفون: Giacomo Venturi, Paolo Cavarzere, Giuseppina De Marco, Patrizia Agretti, Marta Camilot, Franco Antoniazzi, Monica Vincenzi, Francesca Teofoli, E. Ferrarini, Attilio Boner, Massimo Tonacchera, Rossella Gaudino, Antonio Dimida

المصدر: BMC Endocrine Disorders

مصطلحات موضوعية: Male, Thyroid Nuclear Factor 1, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Thyrotropin, Receptors, Paired Box Transcription Factors, Promoter Regions, Genetic, Thyroid, Nuclear Proteins, Forkhead Transcription Factors, Receptors, Thyrotropin, General Medicine, Middle Aged, Prognosis, Thyroid agenesis, Congenital hypothyroidism, Pedigree, medicine.anatomical_structure, Thyroid Dysgenesis, Homeobox Protein Nkx-2.5, Biological Markers, Female, hormones, hormone substitutes, and hormone antagonists, Research Article, Thyroid nodules, medicine.medical_specialty, endocrine system, Congenital Hypothyroidism, Follow-Up Studies, HEK293 Cells, Homeodomain Proteins, Humans, Hypothyroidism, Infant, Newborn, Transcription Factors, Thyroid dysgenesis, Promoter Regions, PAX8 Transcription Factor, Genetic, Internal medicine, medicine, business.industry, R133W-PAX8, Infant, medicine.disease, Newborn, Endocrinology, PAX8 gene, PAX8, business, Biomarkers, Variable phenotypic expressivity, FOXE1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce99279bc469bfcedbceeefc43e6fe19Test
https://pubmed.ncbi.nlm.nih.gov/25146893Test

5

دورية أكاديمية

Mutations in TAZ/WWTR1, a co-activator of NKX2.1 and PAX8 are not a frequent cause of thyroid dysgenesis.

المؤلفون: Ferrara AM, Rossi G, Capuano S, Del Prete G, Zampella E, Gianino P, Corrias A, Fenzi G, Zannini M, Macchia P.E., DE SANCTIS, Luisa

المساهمون: Ferrara AM, De Sanctis L, Rossi G, Capuano S, Del Prete G, Zampella E, Gianino P, Corrias A, Fenzi G, Zannini M, Macchia PE.

مصطلحات موضوعية: Congenital hypothyroidism, Thyroid development, Thyroid dysgenesi, Transcription factor, TAZ/WWTR1 gene, PAX8 gene

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19542741; info:eu-repo/semantics/altIdentifier/wos/WOS:000267384900009; volume:32; issue:3; firstpage:238; lastpage:241; numberofpages:4; journal:JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION; http://hdl.handle.net/2318/108148Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-67651250122

الإتاحة: http://hdl.handle.net/2318/108148Test

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6

دورية أكاديمية

Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variant.

المؤلفون: TONACCHERA M, BANCO ME, MONTANELLI L, DI COSMO C, AGRETTI P, DE MARCO G, FERRARINI E, ORDOOKHANI A, PERRI A, CHIOVATO, LUCA, SANTINI F, VITTI P, PINCHERA A.

المساهمون: Tonacchera, M, Banco, Me, Montanelli, L, DI COSMO, C, Agretti, P, DE MARCO, G, Ferrarini, E, Ordookhani, A, Perri, A, Chiovato, Luca, Santini, F, Vitti, P, Pinchera, A.

مصطلحات موضوعية: PAX8 gene, congenital hypothyroidism, thyroid

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/17437516; info:eu-repo/semantics/altIdentifier/wos/WOS:000247339300005; volume:67; issue:1; firstpage:34; lastpage:40; numberofpages:7; journal:CLINICAL ENDOCRINOLOGY; http://hdl.handle.net/11571/102087Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-34250772461

الإتاحة: https://doi.org/10.1111/j.1365-2265.2007.02831.xTest
http://hdl.handle.net/11571/102087Test

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7

Mutations in TAZ/WWTR1, a co-activator of NKX2.1 and PAX8 are not a frequent cause of thyroid dysgenesis

المؤلفون: Paolo Emidio Macchia, Emilia Zampella, Serena Capuano, L. de Sanctis, Andrea Corrias, Gian Paolo Rossi, Paola Gianino, G. Del Prete, Alfonso Massimiliano Ferrara, Gianfranco Fenzi, Mariastella Zannini

المساهمون: Ferrara, ALFONSO MASSIMILIANO, De Sanctis, L., Rossi, G., Capuano, S., Del Prete, G., Zampella, E., Gianino, P., Corrias, A., Fenzi, Gianfranco, Zannini, Mariastella, Macchia, PAOLO EMIDIO

المصدر: Scopus-Elsevier
Journal of endocrinological investigation (Testo stamp.) (2009).
info:cnr-pdr/source/autori:Ferrara AM, De Sanctis L, Rossi G, Capuano S, Del Prete G, Zampella E, Gianino P, Corrias A, Fenzi G, Zannini M, Macchia PE./titolo:Mutations in TAZ%2FWWTR1, a co-activator of NKX2.1 and PAX8 are not a frequent cause of thyroid dysgenesis./doi:/rivista:Journal of endocrinological investigation (Testo stamp.)/anno:2009/pagina_da:/pagina_a:/intervallo_pagine:/volume

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf2978942af842ae3945285b4082fa8fTest
http://hdl.handle.net/11588/352082Test

8

دورية أكاديمية

Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability

المؤلفون: DE SANCTIS, Luisa, SILVESTRO, Leandra, Corrias A, Romagnolo D, Di Palma T, Biava A, Borgarello G, Gianino P, Zannini M, Dianzani I.

المساهمون: de Sanctis L, Corrias A, Romagnolo D, Di Palma T, Biava A, Borgarello G, Gianino P, Silvestro L, Zannini M, Dianzani I.

مصطلحات موضوعية: congenital hypothyroidism, PAX8 gene

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/15531527; info:eu-repo/semantics/altIdentifier/wos/WOS:000224946300061; volume:89; issue:11; firstpage:5669; lastpage:5674; numberofpages:6; journal:THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM; http://hdl.handle.net/2318/41863Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-8744282728

الإتاحة: https://doi.org/10.1210/jc.2004-0398Test
http://hdl.handle.net/2318/41863Test

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9

دورية أكاديمية

Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter

المساهمون: Bereket A., Liao X.-H., Turoglu T., Aribal E., Refetoff S.

مصطلحات موضوعية: Congenital hypothyroidism, Ectopic thyroid, Hypoplastic thyroid, PAX8 gene, Thyroid dysgenesis

العلاقة: Journal of Pediatric Endocrinology and Metabolism; https://hdl.handle.net/11424/246621Test

الإتاحة: https://doi.org/10.1515/JPEM.2004.17.7.1021Test
https://hdl.handle.net/11424/246621Test

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10

Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability

المؤلفون: Paola Gianino, A. Biava, Leandra Silvestro, Andrea Corrias, Damiano Romagnolo, Gabriella Borgarello, Mariastella Zannini, Irma Dianzani, Tina Di Palma, Luisa De Sanctis

المصدر: The Journal of clinical endocrinology and metabolism 89 (2004): 5669–5674.
info:cnr-pdr/source/autori:De Sanctis L, Corrias A, Di Palma T, Romagnolo D, Biava A, Borgarello G, Gianino P, Silvestro L, Zannini M, Dianzani I./titolo:Familial Pax8 small deletion (c.989_992delACCC) associated with extreme phenotype variability./doi:/rivista:The Journal of clinical endocrinology and metabolism/anno:2004/pagina_da:5669/pagina_a:5674/intervallo_pagine:5669–5674/volume:89

مصطلحات موضوعية: medicine.medical_specialty, endocrine system, endocrine system diseases, Transcription, Genetic, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Molecular Sequence Data, Thyroid Gland, Biology, medicine.disease_cause, Biochemistry, Thyroid dysgenesis, Frameshift mutation, Exon, PAX8 Transcription Factor, Endocrinology, Internal medicine, medicine, Coding region, Humans, Paired Box Transcription Factors, Amino Acid Sequence, Genetics, Mutation, Biochemistry (medical), Thyroid, congenital hypothyroidism, Nuclear Proteins, DNA, medicine.disease, Congenital hypothyroidism, DNA-Binding Proteins, PAX8 gene, medicine.anatomical_structure, Phenotype, Trans-Activators, PAX8, Gene Deletion, HeLa Cells

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5f64f8784655ba650953e899dd07596Test
https://pubmed.ncbi.nlm.nih.gov/15531527Test

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