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TSH Elevations as the First Laboratory Evidence for Pseudohypoparathyroidism Type Ib (PHP‐Ib)

Journal of bone and mineral research, 2015-05, Vol.30 (5), p.906-912

2015

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A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B)

Journal of bone and mineral research, 2017-04, Vol.32 (4), p.776-783

2017

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Hypersensibilité à la vitamine D : étude moléculaire d’une cohorte de 185 patients

Annales d'endocrinologie, 2018-09, Vol.79 (4), p.219-219

2018

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Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome

Advances in medical sciences, 2012-12, Vol.57 (2), p.314-321

2012

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Paternal deletion of the GNAS imprinted locus (including ) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties

European journal of human genetics : EJHG, 2005-09, Vol.13 (9), p.1033-1039

2005

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Activating mutations of the calcium-sensing receptor : Management of hypocalcemia

The journal of clinical endocrinology and metabolism, 2001-11, Vol.86 (11), p.5313-5323

2001

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Major hyperestrogenism in a feminizing adrenocortical adenoma despite a moderate overexpression of the aromatase enzyme

European journal of endocrinology, 2003-04, Vol.148 (4), p.457-461

2003

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Fetal expression of GnRH and GnRH receptor genes in rat testis and ovary

Journal of endocrinology, 1998-10, Vol.159 (1), p.179-189

1998

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GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: Genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance

The journal of clinical endocrinology and metabolism, 2002, Vol.87 (1), p.189-197

2002

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Distinct mRNA, protein expression patterns and distribution of oestrogen receptors α and β in human primary breast cancer: Correlation with proliferation marker Ki-67 and clinicopathological factors

European journal of cancer (1990), 2005-12, Vol.41 (18), p.2924-2934

2005

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Tissue-specific pattern of variant transcripts of the human gonadotropin-releasing hormone receptor gene

European journal of endocrinology, 1999-06, Vol.140 (6), p.561-569

1999

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Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration

The journal of clinical endocrinology and metabolism, 1999-03, Vol.84 (3), p.990-996

1999

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A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia

The journal of clinical endocrinology and metabolism, 2000-04, Vol.85 (4), p.1695-1702

2000

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LH down-regulates gonadotropin-releasing hormone (GnRH) receptor, but not GnRH, mRNA levels in the rat testis

Journal of endocrinology, 1999-09, Vol.162 (3), p.409-415

1999

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Albright hereditary osteodystrophy: report of a particular clinical phenotype caused by a novel GNAS mutation

Journal of the European Academy of Dermatology and Venereology, 2010-08, Vol.24 (8), p.974-975

2010

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A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism : Chronic estrogen administration amplifies the gonadotropin defect

The journal of clinical endocrinology and metabolism, 2000-09, Vol.85 (9), p.3002-3008

2000

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Tryptophan Missense Mutation in the Ligand‐Binding Domain of the Vitamin D Receptor Causes Severe Resistance to 1,25‐Dihydroxyvitamin D

Journal of bone and mineral research, 2002-09, Vol.17 (9), p.1728-1737

2002

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Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D‐ and L‐2 hydroxyglutaric aciduria

Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.1149-1150

2005

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A case of complete hypogonadotropic hypogonadism with a mutation in the gonadotropin-releasing hormone receptor gene

Fertility and sterility, 2003-02, Vol.79 (2), p.442-444

2003

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Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene

Fertility and sterility, 2002-06, Vol.77 (6), p.1288-1291

2002

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Gonadotropin-releasing hormone and the control of gonadotrope function

Reproduction, nutrition, development, 2005-05, Vol.45 (3), p.243-254

2005

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A spontaneous and severe hyperstimulation of the ovaries revealing a gonadotroph adenoma

The journal of clinical endocrinology and metabolism, 1998-10, Vol.83 (10), p.3450-3453

1998

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Mutations of the GnRH Receptor Gene: A New Cause of Autosomal-Recessive Hypogonadotropic Hypogonadism

Archives of Medical Research, 1999-11, Vol.30 (6), p.481-485

1999

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Lipoprotein lipase activity and common gene variants in severely hypertriglyceridemic patients with and without diabetes

Hormone research, 2003-01, Vol.60 (2), p.61-67

2003

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TSH Elevations as the First Laboratory Evidence for Pseudohypoparathyroidism Type Ib (PHP‐Ib)

A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B)

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

Hypersensibilité à la vitamine D : étude moléculaire d’une cohorte de 185 patients

Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome

Paternal deletion of the GNAS imprinted locus (including ) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties

Activating mutations of the calcium-sensing receptor : Management of hypocalcemia

Major hyperestrogenism in a feminizing adrenocortical adenoma despite a moderate overexpression of the aromatase enzyme

Fetal expression of GnRH and GnRH receptor genes in rat testis and ovary

GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: Genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance

Distinct mRNA, protein expression patterns and distribution of oestrogen receptors α and β in human primary breast cancer: Correlation with proliferation marker Ki-67 and clinicopathological factors

Tissue-specific pattern of variant transcripts of the human gonadotropin-releasing hormone receptor gene

Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration

A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia

LH down-regulates gonadotropin-releasing hormone (GnRH) receptor, but not GnRH, mRNA levels in the rat testis

Albright hereditary osteodystrophy: report of a particular clinical phenotype caused by a novel GNAS mutation

A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism : Chronic estrogen administration amplifies the gonadotropin defect

Tryptophan Missense Mutation in the Ligand‐Binding Domain of the Vitamin D Receptor Causes Severe Resistance to 1,25‐Dihydroxyvitamin D

Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D‐ and L‐2 hydroxyglutaric aciduria

A case of complete hypogonadotropic hypogonadism with a mutation in the gonadotropin-releasing hormone receptor gene

Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene

Gonadotropin-releasing hormone and the control of gonadotrope function

A spontaneous and severe hyperstimulation of the ovaries revealing a gonadotroph adenoma

Mutations of the GnRH Receptor Gene: A New Cause of Autosomal-Recessive Hypogonadotropic Hypogonadism

Lipoprotein lipase activity and common gene variants in severely hypertriglyceridemic patients with and without diabetes

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