Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Stéphanie Larrivée-Vanier"'
Autor:
Stéphanie Larrivée-Vanier, Martineau Jean-Louis, Fabien Magne, Helen Bui, Guy A. Rouleau, Dan Spiegelman, Mark E. Samuels, Zoha Kibar, Guy Van Vliet, Johnny Deladoëy
Publikováno v:
Thyroid. 32:486-495
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8bde696f5ece872f9c0b50164b85e6f
https://doi.org/10.1089/thy.2021.0597
https://doi.org/10.1089/thy.2021.0597
Autor:
Britta Seebauer, Johnny Deladoëy, Xavier De Deken, Gabrielle Dufort, Gabor Szinnai, Karl Heinimann, Dardye Eugene, Sébastien Lévesque, Stéphanie Larrivée-Vanier, Guy Van Vliet, Serge Gravel
Publikováno v:
Thyroid
Six patients are described with bi-allelic DUOX2 variants and widely variable phenotypes. Patient 1 is an infant with a compressive hypothyroid goiter causing respiratory distress, which was promptly alleviated by levothyroxine (LT4). He was a compou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c41912ad81e5a1cd98c83a2990f2bea8
https://doi.org/10.1089/thy.2018.0461
https://doi.org/10.1089/thy.2018.0461
Autor:
Johnny Deladoëy, Fabien Magne, Elwaseila Hamdoun, Anna Petryk, Zoha Kibar, Stéphanie Larrivée-Vanier, Guy Van Vliet
Publikováno v:
Journal of the Endocrine Society
In 3 Somalian siblings with severe nongoitrous congenital hypothyroidism, exome sequencing identified a variant in TSHR predicted to be benign in isoform 3 but leading to an intronic mutation in isoform 1 (NM_00369:c.692 + 130C>A), which is the isofo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7acc97981b641b1cdb6ae4e5f82cbb6c
https://doi.org/10.1210/jendso/bvaa183
https://doi.org/10.1210/jendso/bvaa183
Autor:
Martineau Jean-Louis, Fabien Magne, Mark E. Samuels, Stéphanie Larrivée Vanier, Guy Van Vliet, Johnny Deladoëy
Publikováno v:
Journal of the Endocrine Society
BACKGROUND: Congenital hypothyroidism due to thyroid dysgenesis (CHTD) is the most common congenital endocrine disease with a prevalence of 1:4,000 live births. We have suggested a two-hit hypothesis to explain CHTD, combining an inherited or de novo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adff357c6aee034612d41688d7148881
http://europepmc.org/articles/PMC7209357
http://europepmc.org/articles/PMC7209357
Publikováno v:
Current Opinion in Endocrine and Metabolic Research. 2:3-9
Thyroid development anomalies, known as thyroid dysgenesis, are the commonest cause of congenital hypothyroidism. Most of the cases remain unexplained, although the occurrence of familial cases strongly suggests a genetic contribution. To validate a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c6f29d79daa640f56ee1da5849455631
https://doi.org/10.1016/j.coemr.2018.01.005
https://doi.org/10.1016/j.coemr.2018.01.005
Publikováno v:
Best Practice & Research Clinical Endocrinology & Metabolism. 31:143-159
Developmental anomalies of the thyroid gland, defined as thyroid dysgenesis, underlie the majority of cases of congenital hypothyroidism. Thyroid dysgenesis is predominantly a sporadic disorder although a reported familial enrichment, variation of in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8065db493ab43f68d94d681a7e1cd3b9
https://doi.org/10.1016/j.beem.2017.04.008
https://doi.org/10.1016/j.beem.2017.04.008
Autor:
Gabrielle, Dufort, Stéphanie, Larrivée-Vanier, Dardye, Eugène, Xavier, De Deken, Britta, Seebauer, Karl, Heinimann, Sébastien, Lévesque, Serge, Gravel, Gabor, Szinnai, Guy, Van Vliet, Johnny, Deladoëy
Publikováno v:
Thyroid : official journal of the American Thyroid Association. 29(7)
Six patients are described with bi-allelic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3be91b382cd05903c97622ff8e2641fd
https://pubmed.ncbi.nlm.nih.gov/31532729
https://pubmed.ncbi.nlm.nih.gov/31532729
Autor:
Tomi Pastinen, Stéphanie Larrivée-Vanier, Bing Ge, Guy Van Vliet, Mark E. Samuels, Fabien Magne, Johnny Deladoëy
Publikováno v:
Thyroid. 26:852-859
Congenital hypothyroidism due to thyroid dysgenesis (CHTD) is a disorder with a prevalence of 1/4000 live births, the cause of which remains unknown. The most common diagnostic category is thyroid ectopy, which occurs in up to 80% of CHTD cases. CHTD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a88c5be31b3bcba9e55cb03286155428
https://doi.org/10.1089/thy.2016.0009
https://doi.org/10.1089/thy.2016.0009
Autor:
Natalie Patey, Jean-Pierre Chanoine, Fabien Magne, Guy Van Vliet, Jean-Marc Vuissoz, Johnny Deladoëy, Stéphanie Larrivée-Vanier
Publikováno v:
Thyroid. 25:1050-1054
In humans, the cause of arrested migration of the median thyroid anlage resulting in an ectopic sublingual gland is unknown. These ectopic glands have a normal follicular architecture but their thyrotropin-induced growth is insufficient, leading to c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61efa543004eceb54acf7407e9efa559
https://doi.org/10.1089/thy.2015.0204
https://doi.org/10.1089/thy.2015.0204