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M. Castanet · SciRah

Researcher profile · Semantic Scholar

M. Castanet

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M. Castanet — researcher profile on SciRah

h-index: 30
Works: 69
Citations: 3,105

Most-cited papers

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.
E. Schoenmakers, M. Agostini, C. Mitchell, N. Schoenmakers +44 more
2010Journal of Clinical Investigation295 citations Open access
Semantic Scholar
Management of Graves' disease during pregnancy: the key role of fetal thyroid gland monitoring.
D. Luton, I. Legac, E. Vuillard, M. Castanet +11 more
2005Journal of Clinical Endocrinology and Metabolism279 citations
Semantic Scholar
Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors.
M. Castanet, M. Polak, C. Bonaïti-pellié, S. Lyonnet +2 more
2001Journal of Clinical Endocrinology and Metabolism239 citations
Semantic Scholar
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.
A. Carré, G. Szinnai, M. Castanet, Sylvia Sura-Trueba +12 more
2009Human Molecular Genetics206 citations
Semantic Scholar
European cystic fibrosis bone mineralisation guidelines.
I. Sermet-Gaudelus, M. Bianchi, M. Garabédian, R. Aris +8 more
2011Journal of Cystic Fibrosis178 citations Open access
Semantic Scholar
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.
M. Castanet, Soo‐Mi Park, Aaron G. Smith, M. Bost +6 more
2002Human Molecular Genetics173 citations
Semantic Scholar
Predictors of autoimmune hyperthyroidism relapse in children after discontinuation of antithyroid drug treatment.
F. Kaguelidou, C. Alberti, M. Castanet, M. Guitteny +2 more
2008Journal of Clinical Endocrinology and Metabolism156 citations
Semantic Scholar
NKX2‐1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in “Brain‐Lung‐Thyroid Syndrome”
L. Guillot, A. Carré, G. Szinnai, M. Castanet +8 more
2010Human Mutation127 citations Open access
Semantic Scholar
Congenital Hyperthyroidism: The Fetus as a Patient
M. Polak, I. Legac, E. Vuillard, J. Guibourdenche +2 more
2006Hormone Research in Paediatrics100 citations Open access
Semantic Scholar
The feasibility of fertility preservation in adolescents with Klinefelter syndrome.
N. Rives, J. Milazzo, A. Perdrix, M. Castanet +5 more
2013Human Reproduction91 citations
Semantic Scholar
Vitamin D and calcium intakes in general pediatric populations: A French expert consensus paper.
J. Bacchetta, T. Edouard, G. Laverny, J. Bernardor +12 more
2022Archives de pédiatrie90 citations Open access
Semantic Scholar
Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis
A. Carré, M. Castanet, Sylvia Sura-Trueba, G. Szinnai +7 more
2007Human Genetics75 citations
Semantic Scholar
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta
M. Doyard, Séverine Bacrot, C. Huber, M. Dirocco +16 more
2018Journal of Medical Genetics67 citations
Semantic Scholar
Update on cystic fibrosis-related bone disease: a special focus on children.
I. Sermet-Gaudelus, M. Castanet, G. Retsch-Bogart, R. Aris
2009Paediatric Respiratory Reviews67 citations
Semantic Scholar
Spectrum of Human Foxe1/TTF2 Mutations
M. Castanet, M. Polak
2010Hormone Research in Paediatrics63 citations
Semantic Scholar
Experience with intraamniotic thyroxine treatment in nonimmune fetal goitrous hypothyroidism in 12 cases.
V. Ribault, M. Castanet, A. Bertrand, J. Guibourdenche +3 more
2009Journal of Clinical Endocrinology and Metabolism58 citations
Semantic Scholar
Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes
M. Castanet, Sylvia Sura-Trueba, A. Chauty, A. Carré +6 more
2005European Journal of Human Genetics53 citations
Semantic Scholar
Hes1 Is Required for Appropriate Morphogenesis and Differentiation during Mouse Thyroid Gland Development
A. Carré, L. Rachdi, E. Tron, B. Richard +5 more
2011PLoS ONE49 citations Open access
Semantic Scholar
A Novel FOXE1 Mutation (R73S) in Bamforth–Lazarus Syndrome Causing Increased Thyroidal Gene Expression
A. Carré, R. Hamza, D. Kariyawasam, L. Guillot +6 more
2014Thyroid48 citations Open access
Semantic Scholar
Primary Hyperparathyroidism in Neonates and Children
E. Mallet, M. Castanet
200848 citations
Semantic Scholar
Thyroid Hemiagenesis Is a Rare Variant of Thyroid Dysgenesis with a Familial Component but without Pax8 Mutations in a Cohort of 22 Cases
M. Castanet, L. Leenhardt, J. Léger, Aurore Simon-Carré +4 more
2005Pediatric Research48 citations
Semantic Scholar
Lightwood syndrome revisited with a novel mutation in CYP24 and vitamin D supplement recommendations.
M. Castanet, E. Mallet, M. Kottler
2013Jornal de Pediatria44 citations
Semantic Scholar
Molecular Mechanisms of Thyroid Dysgenesis
M. Polak, Sylvia Sura-Trueba, A. Chauty, G. Szinnai +2 more
2004Hormone Research in Paediatrics44 citations
Semantic Scholar
Early Effect of Supplemented Infant Formulae on Intestinal Biomarkers and Microbiota: A Randomized Clinical Trial
M. Castanet, C. Costalos, N. Haiden, J. Hascoet +9 more
2020Nutrients43 citations Open access
Semantic Scholar
Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations.
H. Ramos, A. Carré, L. Chevrier, G. Szinnai +10 more
2014European Journal of Endocrinology41 citations Open access
Semantic Scholar
X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood.
E. Fiot, D. Zénaty, P. Boizeau, Jérémie Haignere +77 more
2019European Journal of Endocrinology37 citations Open access
Semantic Scholar
High Proportion of Pituitary Abnormalities and Other Congenital Defects in Children with Congenital Nasal Pyriform Aperture Stenosis
S. Guilmin-Crépon, C. Garel, C. Baumann, D. Bremond-Gignac +6 more
2006Pediatric Research36 citations
Semantic Scholar
Clinical Description of Infants with Congenital Hypothyroidism and Iodide Organification Defects
P. Cavarzere, M. Castanet, M. Polak, M. Raux-Demay +4 more
2008Hormone Research in Paediatrics35 citations
Semantic Scholar
Metallic Profile of Whole Blood and Plasma in a Series of 99 Healthy Children.
J. Goullé, P. Le Roux, M. Castanet, L. Mahieu +2 more
2015Journal of Analytical Toxicology33 citations
Semantic Scholar
Epidemiology of Thyroid Dysgenesis: The Familial Component
M. Castanet, D. Marinovic, M. Polak, J. Léger
2010Hormone Research in Paediatrics31 citations Open access
Semantic Scholar
Natural History and Management of Congenital Hypothyroidism with in situ Thyroid Gland
M. Castanet, Alexandra Goischke, J. Léger, C. Thalassinos +6 more
2015Hormone Research in Paediatrics25 citations Open access
Semantic Scholar
Multiplex Ligation-Dependent Probe Amplification Improves the Detection Rate of NKX2.1 Mutations in Patients Affected by Brain-Lung-Thyroid Syndrome
R. Teissier, L. Guillot, A. Carré, M. Morandini +10 more
2012Hormone Research in Paediatrics21 citations
Semantic Scholar
Familial forms of thyroid dysgenesis.
M. Castanet, M. Polak, J. Léger
2007Endocrine Development21 citations
Semantic Scholar
Temporal and spatial distribution of mast cells and steroidogenic enzymes in the human fetal adrenal.
Alexandre Naccache, E. Louiset, C. Duparc, A. Laquérriere +6 more
2016Molecular and Cellular Endocrinology20 citations
Semantic Scholar
New Cases of Isolated Congenital Central Hypothyroidism Due to Homozygous Thyrotropin Beta Gene Mutations: A Pitfall to Neonatal Screening
H. Ramos, I. Labedan, A. Carré, M. Castanet +6 more
2010Thyroid20 citations
Semantic Scholar
Insulin Allergy and Extensive Lipoatrophy in Child with Type 1 Diabetes
J. Beltrand, S. Guilmin-Crépon, M. Castanet, M. Peuchmaur +2 more
2006Hormone Research in Paediatrics20 citations
Semantic Scholar
Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care.
H. Ramos, M. Morandini, A. Carré, E. Tron +11 more
2011European Journal of Endocrinology19 citations Open access
Semantic Scholar
Paracrine Regulation of Aldosterone Secretion in Physiological and Pathophysiological Conditions.
H. Lefebvre, C. Duparc, Alexandre Naccache, Antoine-Guy Lopez +2 more
2019Vitamins and hormones15 citations Open access
Semantic Scholar
Off-label use of cinacalcet in pediatric primary hyperparathyroidism: A French multicenter experience
J. Bernardor, S. Flammier, J. Salles, C. Amouroux +6 more
2022Frontiers in Pediatrics12 citations Open access
Semantic Scholar
Role of Mast Cells in the Control of Aldosterone Secretion
Antoine-Guy Lopez, C. Duparc, Alexandre Naccache, M. Castanet +2 more
2020Hormone and Metabolic Research11 citations Open access
Semantic Scholar
Le syndrome de Munchausen par procuration
N. Bocquet, P. Boileau, M. Castanet, I. Gautier +4 more
199710 citations
Semantic Scholar
Fertility Preservation in Klinefelter Syndrome Patients during the Transition Period.
N. Rives, A. Rives, C. Rondanino, M. Castanet +2 more
2018Endocrine Development8 citations
Semantic Scholar
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 portion
T. Cerqueira, A. Carré, L. Chevrier, G. Szinnai +8 more
2015Journal of Pediatric Endocrinology & Metabolism (JPEM)8 citations Open access
Semantic Scholar
[Adolescents consulting at the pediatric emergency room for psychological or psychiatric reasons].
Marc-Antoine Podlipski, A-C Peuch, V. Belloncle, S. Rigal +5 more
2014Archives de pédiatrie8 citations
Semantic Scholar
Molecular Insights into the Possible Role of Kir4.1 and Kir5.1 in Thyroid Hormone Biosynthesis
H. Ramos, M. R. Dias da Silva, A. Carré, Joaquim Custódio Silva +5 more
2015Hormone Research in Paediatrics6 citations
Semantic Scholar
Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia.
A. Molin, M. Nowoczyn, N. Coudray, Céline Ballandone +6 more
2019European Journal of Medical Genetics5 citations Open access
Semantic Scholar
[Bone health in cystic fibrosis].
I. Sermet-Gaudelus, M. Castanet, J. Souberbielle, E. Mallet
2009Archives de pédiatrie5 citations
Semantic Scholar
Digenic Inheritance Mode in Congenital Hypothyroidism due to Thyroid Dysgenesis: HYPOTYGEN translational cohort study.
A. Stoupa, D. Kariyawasam, F. Jabot-Hanin, A. Quoc +23 more
2025Journal of Clinical Endocrinology and Metabolism4 citations
Semantic Scholar
Steroidogenic cell microenvironment and adrenal function in physiological and pathophysiological conditions.
Antoine-Guy Lopez, C. Duparc, J. Wils, Alexandre Naccache +3 more
2021Molecular and Cellular Endocrinology4 citations Open access
Semantic Scholar
The invention of aldosterone, how the past resurfaces in pediatric endocrinology.
S. Viengchareun, E. Pussard, M. Castanet, L. Sachs +4 more
2021Molecular and Cellular Endocrinology4 citations Open access
Semantic Scholar

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M. Polak×25
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M. Polak — researcher profile on SciRah
J. Léger×17
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A. Carré×14
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P. Czernichow×11
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E. Tron — researcher profile on SciRah

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