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Frontiers in Pediatrics
|
September 12, 2022
Off-label use of cinacalcet in pediatric primary hyperparathyroidism: A French multicenter experience
Julie Bernardor, Sacha Flammier, Jean-Pierre Salles, et al.
Human Molecular Genetics
|
August 8, 2002
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate
Mireille Castanet, Soo-Mi Park, Aaron Smith, et al.
European Journal of Medical Genetics
|
November 14, 2018
Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia
Arnaud Molin, Marie Nowoczyn, Nadia Coudray, et al.
Hormone Research in Paediatrics
|
January 31, 2015
Natural history and management of congenital hypothyroidism with in situ thyroid gland
Mireille Castanet, Alexandra Goischke, Juliane Léger, et al.
The Journal of Clinical Endocrinology and Metabolism
|
May 21, 2010
Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism
Mireille Castanet, Uma Mallya, Maura Agostini, et al.
European Journal of Human Genetics : EJHG
|
November 18, 2004
Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes
Mireille Castanet, Sylvia Sura-Trueba, Anne Chauty, et al.
Molecular and Cellular Endocrinology
|
June 16, 2016
Temporal and spatial distribution of mast cells and steroidogenic enzymes in the human fetal adrenal
Alexandre Naccache, Estelle Louiset, Céline Duparc, 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 expression
Aurore 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 screening
Helton E Ramos, Isabelle Labedan, Aurore Carré, et al.
Human Genetics
|
August 25, 2007
Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis
Aurore Carré, Mireille Castanet, Sylvia Sura-Trueba, et al.
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Search research articles
Search
Showing results (21-30 of 47) with videos related to
Sort By:
Page
of 5
Frontiers in Pediatrics
|
September 12, 2022
Off-label use of cinacalcet in pediatric primary hyperparathyroidism: A French multicenter experience
Julie Bernardor, Sacha Flammier, Jean-Pierre Salles, et al.
Human Molecular Genetics
|
August 8, 2002
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate
Mireille Castanet, Soo-Mi Park, Aaron Smith, et al.
European Journal of Medical Genetics
|
November 14, 2018
Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia
Arnaud Molin, Marie Nowoczyn, Nadia Coudray, et al.
Hormone Research in Paediatrics
|
January 31, 2015
Natural history and management of congenital hypothyroidism with in situ thyroid gland
Mireille Castanet, Alexandra Goischke, Juliane Léger, et al.
The Journal of Clinical Endocrinology and Metabolism
|
May 21, 2010
Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism
Mireille Castanet, Uma Mallya, Maura Agostini, et al.
European Journal of Human Genetics : EJHG
|
November 18, 2004
Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes
Mireille Castanet, Sylvia Sura-Trueba, Anne Chauty, et al.
Molecular and Cellular Endocrinology
|
June 16, 2016
Temporal and spatial distribution of mast cells and steroidogenic enzymes in the human fetal adrenal
Alexandre Naccache, Estelle Louiset, Céline Duparc, 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 expression
Aurore 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 screening
Helton E Ramos, Isabelle Labedan, Aurore Carré, et al.
Human Genetics
|
August 25, 2007
Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis
Aurore Carré, Mireille Castanet, Sylvia Sura-Trueba, et al.
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