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Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction

Genetics in medicine, 2018-02, Vol.20 (2), p.250-258

2018

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Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

PLoS genetics, 2006-10, Vol.2 (10), p.e175-e175

2006

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The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Nature genetics, 2001-02, Vol.27 (2), p.159-166

2001

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Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene

Frontiers in endocrinology (Lausanne), 2018-09, Vol.9, p.491-491

2018

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Practice patterns for chronic hypoparathyroidism: data from patients and physicians in France

Endocrine Connections, 2022-01, Vol.11 (1), p.1-11

2022

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Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations

Diabetes care, 2015-11, Vol.38 (11), p.2033-2041

2015

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Characterization of a Novel Loss of Function Mutation of PAX8 in a Familial Case of Congenital Hypothyroidism with In-Place, Normal-Sized Thyroid

The journal of clinical endocrinology and metabolism, 2004-09, Vol.89 (9), p.4285-4291

2004

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Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study

The lancet. Diabetes & endocrinology, 2013-11, Vol.1 (3), p.199-207

2013

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Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis

European journal of endocrinology, 2013-04, Vol.168 (4), p.533

2013

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P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation

The journal of clinical endocrinology and metabolism, 2016-12, Vol.101 (12), p.4789-4798

2016

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Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French Series

Hormone research in paediatrics, 2020-12, Vol.93 (5), p.304-312

2020

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Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases

Journal of pediatric endocrinology & metabolism : JPEM, 2016-09, Vol.29 (9), p.1103

2016

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Glibenclamide oral suspension: Suitable and effective in patients with neonatal diabetes

Pediatric diabetes, 2019-05, Vol.20 (3), p.246-254

2019

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A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes

The journal of clinical endocrinology and metabolism, 2010-02, Vol.95 (2), p.659-669

2010

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Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity

European journal of endocrinology, 2013-02, Vol.168 (2), p.K27

2013

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Novel GALNT3 Mutations Causing Hyperostosis-Hyperphosphatemia Syndrome Result in Low Intact Fibroblast Growth Factor 23 Concentrations

The journal of clinical endocrinology and metabolism, 2007-05, Vol.92 (5), p.1943-1947

2007

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Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib

Journal of medical genetics, 2011-01, Vol.48 (1), p.55-63

2011

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Le syndrome d’hyperimmunoglobulinémie D peut être associé à une dénutrition ainsi qu’à des carences en phosphore et en vitamines

Nutrition clinique et métabolisme, 2015-12, Vol.29 (4), p.263-266

2015

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Late prenatal dexamethasone and phenotype variations in 46,XX CAH: Concerns about current protocols and benefits for surgical procedures

Journal of pediatric urology, 2014-10, Vol.10 (5), p.941-947

2014

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L'enfant avec une petite taille constitutionnelle : diagnostic et traitement: Les troubles de la croissance

Médecine thérapeutique pédiatrie, 2006, Vol.9 (4), p.259-263

LIENHARDT-ROUSSIE, Anne

2006

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A Comparative Phenotypic Study of Kalimann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes

The journal of clinical endocrinology and metabolism, 2010, Vol.95 (2), p.659-669

2010

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Réflexions sur le recrutement des universitaires en pédiatrie

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2010-02, Vol.17 (2), p.109-111

2010

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120 Diagnostics à Ne Pas Manquer

2e ed., 2011

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Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

PLoS genetics, 2005, Vol.preprint (2006), p.e175

2005

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Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene

Practice patterns for chronic hypoparathyroidism: data from patients and physicians in France

Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations

Characterization of a Novel Loss of Function Mutation of PAX8 in a Familial Case of Congenital Hypothyroidism with In-Place, Normal-Sized Thyroid

Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study

Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis

P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation

Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population

Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French Series

Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases

Glibenclamide oral suspension: Suitable and effective in patients with neonatal diabetes

A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes

Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity

Novel GALNT3 Mutations Causing Hyperostosis-Hyperphosphatemia Syndrome Result in Low Intact Fibroblast Growth Factor 23 Concentrations

Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib

Le syndrome d’hyperimmunoglobulinémie D peut être associé à une dénutrition ainsi qu’à des carences en phosphore et en vitamines

Late prenatal dexamethasone and phenotype variations in 46,XX CAH: Concerns about current protocols and benefits for surgical procedures

L'enfant avec une petite taille constitutionnelle : diagnostic et traitement: Les troubles de la croissance

A Comparative Phenotypic Study of Kalimann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes

Réflexions sur le recrutement des universitaires en pédiatrie

120 Diagnostics à Ne Pas Manquer

Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

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