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47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment

The Journal of pediatrics, 2013-10, Vol.163 (4), p.1085-1094

2013

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Characteristics of Young Women Presenting With Acute Myocardial Infarction: The Prospective, Multicenter, Observational Young Women Presenting Acute Myocardial Infarction in France Study

Journal of the American Heart Association, 2024-10, Vol.13 (19), p.e034456

2024

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P153: Testosterone effects on short-term physical, hormonal, and neurodevelopmental outcomes in infants with 47,XXY/Klinefelter syndrome: The TESTO Study

Genetics in Medicine Open, 2023, Vol.1 (1), p.100182, Article 100182

2023

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Endocrine Disrupting Chemicals Interfere With Leydig Cell Hormone Pathways During Testicular Descent in Idiopathic Cryptorchidism

Frontiers in endocrinology (Lausanne), 2019-01, Vol.9, p.786-786

2019

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Effect of Ascertainment and Genetic Features on the Phenotype of Klinefelter Syndrome

The Journal of pediatrics, 2008-05, Vol.152 (5), p.716-722

2008

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Transcriptional profiles discriminate bone marrow-derived and synovium-derived mesenchymal stem cells

Arthritis research & therapy, 2005-01, Vol.7 (6), p.R1304-R1315, Article R1304

2005

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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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Near Normalization of Adult Height and Body Proportions by Growth Hormone in Pycnodysostosis

The journal of clinical endocrinology and metabolism, 2010-06, Vol.95 (6), p.2827-2831

2010

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Mitotane (op’DDD) restores growth and puberty in nine children with Cushing’s disease

Endocrine Connections, 2018-12, Vol.7 (12), p.1280-1287

2018

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A Chorionic Gonadotropin–Sensitive Mutation in the Follicle-Stimulating Hormone Receptor as a Cause of Familial Gestational Spontaneous Ovarian Hyperstimulation Syndrome

The New England journal of medicine, 2003-08, Vol.349 (8), p.753-759

2003

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Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin

European journal of endocrinology, 2010-06, Vol.162 (6), p.1083-1091

2010

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Heterozygous Mutation of Steroidogenic Factor-1 in 46,XY Subjects May Mimic Partial Androgen Insensitivity Syndrome

The journal of clinical endocrinology and metabolism, 2007-08, Vol.92 (8), p.2868-2873

2007

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Identification by array-Comparative Genomic Hybridization (array-CGH) of a large deletion of luteinizing hormone receptor gene combined with a missense mutation in a patient diagnosed with a 46,XY disorder of sex development and application to prenatal diagnosis

Endocrine Journal, 2011, Vol.58(9), pp.769-776

2011

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Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy

Science (American Association for the Advancement of Science), 2009-11, Vol.326 (5954), p.818-823

2009

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Expert opinions on endocrine toxicity induced by new anticancer therapies: Precautions to be taken in performing and interpreting hormonal assays under immunotherapy

Annales d'endocrinologie, 2018-10, Vol.79 (5), p.550-554

2018

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Complete Kisspeptin Receptor Inactivation Does Not Impede Exogenous GnRH-Induced LH Surge in Humans

The journal of clinical endocrinology and metabolism, 2018-12, Vol.103 (12), p.4482-4490

2018

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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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Lower Circulating Sertoli and Leydig Cell Hormone Levels During Puberty in Obese Boys: A Cross-sectional Study

The journal of clinical endocrinology and metabolism, 2022-04, Vol.107 (4), p.e1568-e1576

2022

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Consensus statement on the use of gonadotropin-releasing hormone analogs in children

Pediatrics (Evanston), 2009-04, Vol.123 (4), p.e752-e762

2009

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Oxandrolone Treatment Results in an Increased Risk of Gonadarche in Prepubertal Boys With Klinefelter Syndrome

The journal of clinical endocrinology and metabolism, 2018-09, Vol.103 (9), p.3449-3455

2018

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Mutations in the Human Leptin and Leptin Receptor Genes as Models of Serum Leptin Receptor Regulation

Diabetes (New York, N.Y.), 2002-06, Vol.51 (6), p.1980-1985

2002

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Ovarian reserve after treatment with alkylating agents during childhood

Human reproduction (Oxford), 2015-06, Vol.30 (6), p.1437-1446

2015

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Loss of Anti-Müllerian Hormone Signaling in Mice Affects Trabecular Bone Mass in a Sex- and Age-Dependent Manner

Endocrinology (Philadelphia), 2022-11, Vol.163 (11), p.1

2022

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Identification by array-Comparative Genomic Hybridization (array-CGH) of a large deletion of luteinizing hormone receptor gene combined with a missense mutation in a patient diagnosed with a 46,XY disorder of sex development and application to prenatal diagnosis

ENDOCRINE JOURNAL, 2011, Vol.58 (9), p.769-776

2011

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47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment

Characteristics of Young Women Presenting With Acute Myocardial Infarction: The Prospective, Multicenter, Observational Young Women Presenting Acute Myocardial Infarction in France Study

P153: Testosterone effects on short-term physical, hormonal, and neurodevelopmental outcomes in infants with 47,XXY/Klinefelter syndrome: The TESTO Study

Endocrine Disrupting Chemicals Interfere With Leydig Cell Hormone Pathways During Testicular Descent in Idiopathic Cryptorchidism

Effect of Ascertainment and Genetic Features on the Phenotype of Klinefelter Syndrome

Transcriptional profiles discriminate bone marrow-derived and synovium-derived mesenchymal stem cells

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

Near Normalization of Adult Height and Body Proportions by Growth Hormone in Pycnodysostosis

Mitotane (op’DDD) restores growth and puberty in nine children with Cushing’s disease

A Chorionic Gonadotropin–Sensitive Mutation in the Follicle-Stimulating Hormone Receptor as a Cause of Familial Gestational Spontaneous Ovarian Hyperstimulation Syndrome

Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin

Heterozygous Mutation of Steroidogenic Factor-1 in 46,XY Subjects May Mimic Partial Androgen Insensitivity Syndrome

Identification by array-Comparative Genomic Hybridization (array-CGH) of a large deletion of luteinizing hormone receptor gene combined with a missense mutation in a patient diagnosed with a 46,XY disorder of sex development and application to prenatal diagnosis

Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy

Expert opinions on endocrine toxicity induced by new anticancer therapies: Precautions to be taken in performing and interpreting hormonal assays under immunotherapy

Complete Kisspeptin Receptor Inactivation Does Not Impede Exogenous GnRH-Induced LH Surge in Humans

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

Lower Circulating Sertoli and Leydig Cell Hormone Levels During Puberty in Obese Boys: A Cross-sectional Study

Consensus statement on the use of gonadotropin-releasing hormone analogs in children

Oxandrolone Treatment Results in an Increased Risk of Gonadarche in Prepubertal Boys With Klinefelter Syndrome

Mutations in the Human Leptin and Leptin Receptor Genes as Models of Serum Leptin Receptor Regulation

Ovarian reserve after treatment with alkylating agents during childhood

Loss of Anti-Müllerian Hormone Signaling in Mice Affects Trabecular Bone Mass in a Sex- and Age-Dependent Manner

Identification by array-Comparative Genomic Hybridization (array-CGH) of a large deletion of luteinizing hormone receptor gene combined with a missense mutation in a patient diagnosed with a 46,XY disorder of sex development and application to prenatal diagnosis

Islet-reactive CD8 + T cell frequencies in the pancreas, but not in blood, distinguish type 1 diabetic patients from healthy donors

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