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BMP system expression in GCs from polycystic ovary syndrome women and the in vitro effects of BMP4, BMP6, and BMP7 on GC steroidogenesis

European journal of endocrinology, 2013-03, Vol.168 (3), p.437-444

2013

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Overlapping Phenotypes Associated With CYP24A1 , SLC34A1 , and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D

Frontiers in endocrinology (Lausanne), 2021-10, Vol.12, p.736240-736240

2021

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Local aromatase excess with recruitment of unusual promoters of CYP19A1 gene in prepubertal patients with gynecomastia

Journal of Pediatric Endocrinology and Metabolism, 2022-07, Vol.35 (7), p.924-930

2022

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Aromatase expression in the normal human adult adrenal and in adrenocortical tumors: biochemical, immunohistochemical, and molecular studies

European journal of endocrinology, 2009-01, Vol.160 (1), p.93-99

2009

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Vitamin D–Dependent Rickets Type 1B (25‐Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

Journal of bone and mineral research, 2017-09, Vol.32 (9), p.1893-1899

2017

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A New Deletion Ablating NESP55 Causes Loss of Maternal Imprint of A/B GNAS and Autosomal Dominant Pseudohypoparathyroidism Type Ib

The journal of clinical endocrinology and metabolism, 2012-05, Vol.97 (5), p.E863-E867

2012

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High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B

Bone (New York, N.Y.), 2019-06, Vol.123, p.145-152

2019

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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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Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C

European journal of medical genetics, 2019-07, Vol.62 (7), p.103648-103648, Article 103648

2019

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Maternal Transmission Ratio Distortion of GNAS Loss‐of‐Function Mutations

Journal of bone and mineral research, 2020-05, Vol.35 (5), p.913-919

2020

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Array CGH analysis in high-risk pregnancies: comparing DNA from cultured cells and cell-free fetal DNA

Prenatal diagnosis, 2012-04, Vol.32 (4), p.383-388

2012

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Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia

European journal of medical genetics, 2019-11, Vol.62 (11), p.103577-103577, Article 103577

2019

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Cushing's syndrome associated with a nested stromal epithelial tumor of the liver: hormonal, immunohistochemical, and molecular studies

European journal of endocrinology, 2009-11, Vol.161 (5), p.805-810

2009

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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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Differential Regulation of Two 3′ End Variants of P450 Aromatase Transcripts and of a New Truncated Aromatase Protein in Rabbit Preovulatory Granulosa Cells

Endocrinology (Philadelphia), 2003-11, Vol.144 (11), p.4790-4798

2003

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Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C

European journal of medical genetics, 2019-07, Vol.62 (7)

2019

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GnRH agonist and GnRH antagonist protocols in ovarian stimulation: differential regulation pathway of aromatase expression in human granulosa cells

Reproductive biomedicine online, 2010-07, Vol.21 (1), p.56-65

2010

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De novo 15q13.3 microdeletion with cryptogenic west syndrome

American journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2582-2587

2013

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cAMP-dependent regulation of CYP19 gene in rabbit preovulatory granulosa cells and corpus luteum

The Journal of steroid biochemistry and molecular biology, 2009-08, Vol.116 (1), p.110-117

2009

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A T315I Gate Keeper Mutation Responding To Pegylated Interferon Alfa-2a (Peg-IFN) Monotherapy With Major Molecular Response (MMR4) At 12 Months In An Imatinib-Resistant Chronic Myeloid Leukemia (CML) Patient

Blood, 2013-11, Vol.122 (21), p.5179-5179

2013

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Aberrant adrenal sensitivity to vasopressin in adrenal tumours associated with subclinical or overt autonomous hypercortisolism: is this explained by an overexpression of vasopressin receptors?

Clinical endocrinology (Oxford), 2008-05, Vol.68 (5), p.692-699

2008

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Infliximab in chronic myelogenous leukemia

Leukemia research, 2007-03, Vol.31 (3), p.418-419

2007

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Supernumerary marker chromosomes management in prenatal diagnosis

American journal of medical genetics. Part A, 2008-11, Vol.146A (21), p.2770-2776

2008

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p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study

European journal of human genetics : EJHG, 2011-01, Vol.19 (1), p.36-42

2011

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The absence of a functional nuclear receptor element A (NREA) in the promoter II of the aromatase P450 gene in rabbit granulosa cells

The Journal of steroid biochemistry and molecular biology, 2006-10, Vol.101 (2), p.127-135

2006

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BMP system expression in GCs from polycystic ovary syndrome women and the in vitro effects of BMP4, BMP6, and BMP7 on GC steroidogenesis

Overlapping Phenotypes Associated With CYP24A1 , SLC34A1 , and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D

Local aromatase excess with recruitment of unusual promoters of CYP19A1 gene in prepubertal patients with gynecomastia

Aromatase expression in the normal human adult adrenal and in adrenocortical tumors: biochemical, immunohistochemical, and molecular studies

Vitamin D–Dependent Rickets Type 1B (25‐Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

A New Deletion Ablating NESP55 Causes Loss of Maternal Imprint of A/B GNAS and Autosomal Dominant Pseudohypoparathyroidism Type Ib

High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B

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

Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C

Maternal Transmission Ratio Distortion of GNAS Loss‐of‐Function Mutations

Array CGH analysis in high-risk pregnancies: comparing DNA from cultured cells and cell-free fetal DNA

Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia

Cushing's syndrome associated with a nested stromal epithelial tumor of the liver: hormonal, immunohistochemical, and molecular studies

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

Differential Regulation of Two 3′ End Variants of P450 Aromatase Transcripts and of a New Truncated Aromatase Protein in Rabbit Preovulatory Granulosa Cells

Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C

GnRH agonist and GnRH antagonist protocols in ovarian stimulation: differential regulation pathway of aromatase expression in human granulosa cells

De novo 15q13.3 microdeletion with cryptogenic west syndrome

cAMP-dependent regulation of CYP19 gene in rabbit preovulatory granulosa cells and corpus luteum

A T315I Gate Keeper Mutation Responding To Pegylated Interferon Alfa-2a (Peg-IFN) Monotherapy With Major Molecular Response (MMR4) At 12 Months In An Imatinib-Resistant Chronic Myeloid Leukemia (CML) Patient

Aberrant adrenal sensitivity to vasopressin in adrenal tumours associated with subclinical or overt autonomous hypercortisolism: is this explained by an overexpression of vasopressin receptors?

Infliximab in chronic myelogenous leukemia

Supernumerary marker chromosomes management in prenatal diagnosis

p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study

The absence of a functional nuclear receptor element A (NREA) in the promoter II of the aromatase P450 gene in rabbit granulosa cells

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