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CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait

The journal of clinical endocrinology and metabolism, 2015-10, Vol.100 (10), p.E1343-E1352

2015

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KiSS-1 and GPR54 Genes are Co-Expressed in Rat Gonadotrophs and Differentially Regulated In Vivo by Oestradiol and Gonadotrophin-Releasing Hormone

Journal of neuroendocrinology, 2008-03, Vol.20 (3), p.381-393

2008

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Progressive Osseous Heteroplasia: A Model for the Imprinting Effects of GNAS Inactivating Mutations in Humans

The journal of clinical endocrinology and metabolism, 2010-06, Vol.95 (6), p.3028-3038

2010

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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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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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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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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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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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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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Seasonal expression of KiSS-1 and the pituitary gonadotropins LHβ and FSHβ in adult male Libyan jird (Meriones libycus)

Animal reproduction science, 2014-06, Vol.147 (1-2), p.56-63

2014

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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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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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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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Overdose or hypersensitivity to vitamin D?

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2014-10, Vol.21 (10), p.1115

2014

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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

1999

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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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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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Surdosage ou hypersensibilité à la vitamine D ?

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2014-10, Vol.21 (10), p.1115-1119

2014

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Syndrome de résistance aux estrogènes : une nouvelle mutation dans le domaine AF-2 du gène ESR1 responsable de l’abolition de l’activité transcriptionnelle du récepteur ERα

Annales d'endocrinologie, 2016-09, Vol.77 (4), p.251-251

2016

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Hypercalciurie par mutation de CYP24A1 : une pathologie probablement sous-estimée

Annales d'endocrinologie, 2013-09, Vol.74 (4), p.292-292

2013

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Hyperparathyroïdie de l’adulte compliquant un phénotype initialement classique de mutation CYP 24A1

Annales d'endocrinologie, 2013-09, Vol.74 (4), p.294-295

2013

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Nucleotide Sequence Analysis of mRNAs Predicts That Rat Pituitary and Gonadal Gonadotropin-Releasing Hormone Receptor Proteins Have Identical Primary Structure

Biochemical and biophysical research communications, 1994-05, Vol.200 (3), p.1359-1366

1994

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Profil phénotypique des mutations CYP24A1 chez les patients souffrant d’une hypercalcémie « atypique

Annales d'endocrinologie, 2013-09, Vol.74 (4), p.295-296

2013

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Mutations hétérozygotes de CYP24A1, un facteur de risque d’hypercalciurie et de lithiases chez l’adulte ?

Annales d'endocrinologie, 2013-09, Vol.74 (4), p.295-295

2013

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CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait

KiSS-1 and GPR54 Genes are Co-Expressed in Rat Gonadotrophs and Differentially Regulated In Vivo by Oestradiol and Gonadotrophin-Releasing Hormone

Progressive Osseous Heteroplasia: A Model for the Imprinting Effects of GNAS Inactivating Mutations in Humans

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

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

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

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

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

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

Seasonal expression of KiSS-1 and the pituitary gonadotropins LHβ and FSHβ in adult male Libyan jird (Meriones libycus)

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

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

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

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

Overdose or hypersensitivity to vitamin D?

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

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

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

Surdosage ou hypersensibilité à la vitamine D ?

Syndrome de résistance aux estrogènes : une nouvelle mutation dans le domaine AF-2 du gène ESR1 responsable de l’abolition de l’activité transcriptionnelle du récepteur ERα

Hypercalciurie par mutation de CYP24A1 : une pathologie probablement sous-estimée

Hyperparathyroïdie de l’adulte compliquant un phénotype initialement classique de mutation CYP 24A1

Nucleotide Sequence Analysis of mRNAs Predicts That Rat Pituitary and Gonadal Gonadotropin-Releasing Hormone Receptor Proteins Have Identical Primary Structure

Profil phénotypique des mutations CYP24A1 chez les patients souffrant d’une hypercalcémie « atypique

Mutations hétérozygotes de CYP24A1, un facteur de risque d’hypercalciurie et de lithiases chez l’adulte ?

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