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Experimental Dermatology|December 31, 2013
Inflammatory peeling skin syndrome caused by homozygous genomic deletion in the PSORS1 region encompassing the CDSN geneAkemi Ishida-Yamamoto, Laetitia Furio, Satomi Igawa, et al.Plos One|March 3, 2011
Hes1 is required for appropriate morphogenesis and differentiation during mouse thyroid gland developmentAurore Carre, Latif Rachdi, Elodie Tron, et al.Thyroid : Official Journal of the American Thyroid Association|November 14, 2013
A novel FOXE1 mutation (R73S) in Bamforth-Lazarus syndrome causing increased thyroidal gene expressionAurore Carré, Rasha T Hamza, Dulanjalee Kariyawasam, et al.Thyroid : Official Journal of the American Thyroid Association|June 18, 2010
New cases of isolated congenital central hypothyroidism due to homozygous thyrotropin beta gene mutations: a pitfall to neonatal screeningHelton E Ramos, Isabelle Labedan, Aurore Carré, et al.Human Mutation|December 19, 2009
NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome"Loïc Guillot, Aurore Carré, Gabor Szinnai, et al.Hormone Research in Paediatrics|January 24, 2015
Molecular insights into the possible role of Kir4.1 and Kir5.1 in thyroid hormone biosynthesisHelton Estrela Ramos, Magnus Régios Dias da Silva, Aurore Carré, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|August 26, 2014
Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portionTaise Lima Oliveira Cerqueira, Aurore Carré, Lucie Chevrier, et al.European Journal of Endocrinology|November 25, 2010
Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal careHelton Estrela Ramos, Melina Morandini, Aurore Carré, et al.The Journal of Investigative Dermatology|November 18, 2011
Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutationsMatthieu Lacroix, Laetitia Lacaze-Buzy, Laetitia Furio, et al.Human Molecular Genetics|April 2, 2009
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one caseAurore Carré, Gabor Szinnai, Mireille Castanet, et al.Pageof 1