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Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

Nature genetics, 2005-09, Vol.37 (9), p.1003-1007

2005

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11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations

The journal of clinical endocrinology and metabolism, 2007-08, Vol.92 (8), p.3148-3154

2007

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A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

Nature (London), 1998-03, Vol.392 (6674), p.398-401

1998

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The Paradoxical Increase in Cortisol Secretion Induced by Dexamethasone in Primary Pigmented Nodular Adrenocortical Disease Involves a Glucocorticoid Receptor-Mediated Effect of Dexamethasone on Protein Kinase A Catalytic Subunits

The journal of clinical endocrinology and metabolism, 2009-07, Vol.94 (7), p.2406-2413

2009

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Cardiovascular findings and management in Turner syndrome: insights from a French cohort

European journal of endocrinology, 2012-10, Vol.167 (4), p.517-522

2012

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Noonan Syndrome: Relationships between Genotype, Growth, and Growth Factors

The journal of clinical endocrinology and metabolism, 2006-01, Vol.91 (1), p.300-306

2006

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Incidence of Growth Hormone Deficiency in Pediatric-Onset Langerhans Cell Histiocytosis: Efficacy and Safety of Growth Hormone Treatment

The journal of clinical endocrinology and metabolism, 2004-02, Vol.89 (2), p.604-609

2004

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Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia

Journal of molecular medicine (Berlin, Germany), 2007-03, Vol.85 (3), p.247-255

2007

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Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

Human molecular genetics, 2009-12, Vol.18 (24), p.4724-4733

2009

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Assessment of Leydig and Sertoli Cell Functions in Infants with Nonmosaic Klinefelter Syndrome: Insulin-Like Peptide 3 Levels Are Normal and Positively Correlated with LH Levels

The journal of clinical endocrinology and metabolism, 2011-04, Vol.96 (4), p.E746-E753

2011

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Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature

The Journal of clinical investigation, 2006-03, Vol.116 (3), p.760-768

2006

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Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients

The journal of clinical endocrinology and metabolism, 2011-02, Vol.96 (2), p.296-307

2011

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Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

Human molecular genetics, 2010-03, Vol.19 (5), p.803-814

2010

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Determining clinical and biological indicators for health outcomes in adult patients with childhood onset of congenital adrenal hyperplasia

European journal of endocrinology, 2015-08, Vol.173 (2), p.175-184

2015

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Experience with Intraamniotic Thyroxine Treatment in Nonimmune Fetal Goitrous Hypothyroidism in 12 Cases

The journal of clinical endocrinology and metabolism, 2009-10, Vol.94 (10), p.3731-3739

2009

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Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys

European journal of endocrinology, 2012-04, Vol.166 (4), p.687-694

2012

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Kallmann’s Syndrome: A Comparison of the Reproductive Phenotypes in Men Carrying KAL1 and FGFR1/KAL2 Mutations

The journal of clinical endocrinology and metabolism, 2008-03, Vol.93 (3), p.758-763

2008

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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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Natural History and Management of Congenital Hypothyroidism with in situ Thyroid Gland

Hormone research in paediatrics, 2015-01, Vol.83 (2), p.102-110

2015

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Self-Esteem and Social Adjustment in Young Women with Turner Syndrome—Influence of Pubertal Management and Sexuality: Population-Based Cohort Study

The journal of clinical endocrinology and metabolism, 2006-08, Vol.91 (8), p.2972-2979

2006

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A 6-Month Trial of the Efficacy and Safety of Triptorelin Pamoate (11.25 mg) Every 3 Months in Children with Precocious Puberty: A Retrospective Comparison with Triptorelin Acetate

Hormone research in paediatrics, 2016-01, Vol.86 (3), p.188-195

2016

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Adult Height and Pubertal Growth in Turner Syndrome after Treatment with Recombinant Growth Hormone

The journal of clinical endocrinology and metabolism, 2005-09, Vol.90 (9), p.5197-5204

2005

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Quality of Life Determinants in Young Women with Turner’s Syndrome after Growth Hormone Treatment: Results of the StaTur Population-Based Cohort Study

The journal of clinical endocrinology and metabolism, 2005-04, Vol.90 (4), p.1992-1997

2005

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Monocentric study of 112 consecutive patients with childhood onset GH deficiency around and after transition

European journal of endocrinology, 2013-11, Vol.169 (5), p.587-596

2013

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Endocrine involvement in pediatric-onset langerhans' cell histiocytosis: a population-based study

The Journal of pediatrics, 2004-03, Vol.144 (3), p.344-350

2004

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Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations

A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

The Paradoxical Increase in Cortisol Secretion Induced by Dexamethasone in Primary Pigmented Nodular Adrenocortical Disease Involves a Glucocorticoid Receptor-Mediated Effect of Dexamethasone on Protein Kinase A Catalytic Subunits

Cardiovascular findings and management in Turner syndrome: insights from a French cohort

Noonan Syndrome: Relationships between Genotype, Growth, and Growth Factors

Incidence of Growth Hormone Deficiency in Pediatric-Onset Langerhans Cell Histiocytosis: Efficacy and Safety of Growth Hormone Treatment

Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

Assessment of Leydig and Sertoli Cell Functions in Infants with Nonmosaic Klinefelter Syndrome: Insulin-Like Peptide 3 Levels Are Normal and Positively Correlated with LH Levels

Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature

Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

Determining clinical and biological indicators for health outcomes in adult patients with childhood onset of congenital adrenal hyperplasia

Experience with Intraamniotic Thyroxine Treatment in Nonimmune Fetal Goitrous Hypothyroidism in 12 Cases

Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys

Kallmann’s Syndrome: A Comparison of the Reproductive Phenotypes in Men Carrying KAL1 and FGFR1/KAL2 Mutations

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

Natural History and Management of Congenital Hypothyroidism with in situ Thyroid Gland

Self-Esteem and Social Adjustment in Young Women with Turner Syndrome—Influence of Pubertal Management and Sexuality: Population-Based Cohort Study

A 6-Month Trial of the Efficacy and Safety of Triptorelin Pamoate (11.25 mg) Every 3 Months in Children with Precocious Puberty: A Retrospective Comparison with Triptorelin Acetate

Adult Height and Pubertal Growth in Turner Syndrome after Treatment with Recombinant Growth Hormone

Quality of Life Determinants in Young Women with Turner’s Syndrome after Growth Hormone Treatment: Results of the StaTur Population-Based Cohort Study

Monocentric study of 112 consecutive patients with childhood onset GH deficiency around and after transition

Endocrine involvement in pediatric-onset langerhans' cell histiocytosis: a population-based study

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