J. Bouligand

发表

Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism

R. Quinton, A. Messina, Jacques Young, 2020, Genetics in Medicine.

PIEZO1‐gene gain‐of‐function mutations with lower limb lymphedema onset in an adult: Clinical, scintigraphic, and noncontrast magnetic resonance lymphography findings

L. Garçon, V. Asnafi, L. Arrivé, 2021, American journal of medical genetics. Part A.

Liquid chromatography-tandem mass spectrometry assay of reduced and oxidized glutathione and main precursors in mice liver.

A. Paci, G. Vassal, J. Morizet, 2006, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Macroprolactinomas in children and adolescents: factors associated with the response to treatment in 77 patients.

P. Chanson, Jacques Young, F. Borson‐Chazot, 2015, The Journal of clinical endocrinology and metabolism.

P. Macchia, I. C. Nettore, Jacques Young, 2018, Human reproduction.

Hypermethylator Phenotype and Ectopic GIP Receptor in GNAS Mutation-Negative Somatotropinomas.

P. Chanson, E. Letouzé, M. Lombès, 2018, The Journal of clinical endocrinology and metabolism.

miR-324-5p and miR-30c-2-3p Alter Renal Mineralocorticoid Receptor Signaling under Hypertonicity

Y. Marie, S. Viengchareun, L. Cheval, 2022, Cells.

Functional Characterization of Glucocorticoid Receptor Variants Is Required to Avoid Misinterpretation of NGS Data

Jacques Young, M. Lombès, C. Bouvattier, 2019, Journal of the Endocrine Society.

Effect of NFE2L2 Genetic Polymorphism on the Association Between Oral Estrogen Therapy and the Risk of Venous Thromboembolism in Postmenopausal Women

O. Cabaret, C. Verstuyft, L. Becquemont, 2011, Clinical pharmacology and therapeutics.

Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism.

A. Linglart, S. Hiéronimus, A. Lienhardt, 2014, The Journal of clinical endocrinology and metabolism.

Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships.

P. Chanson, Jacques Young, S. Brailly‐Tabard, 2010, European journal of endocrinology.

Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties

J. Weill, C. Reynaud, C. Bole-Feysot, 2014, The Journal of Experimental Medicine.

The ERICH3 rs11580409 polymorphism is associated with 6-month antidepressant response in depressed patients

E. Corruble, C. Verstuyft, L. Becquemont, 2022, Progress in Neuro-Psychopharmacology and Biological Psychiatry.

Congenital Hypogonadotropic Hypogonadism during Childhood: Presentation and Genetic Analyses in 46 Boys

K. McElreavey, A. Bashamboo, S. Brailly‐Tabard, 2013, PloS one.

Three Novel Heterozygous Point Mutations of NR3C1 Causing Glucocorticoid Resistance

M. Lombès, B. Delemer, S. Trabado, 2016, Human mutation.

Prevalence of KISS1 Receptor mutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study.

C. Paul, P. Chanson, Jacques Young, 2016, Human reproduction.

Congenital hypogonadotropic hypogonadism in females: clinical spectrum, evaluation and genetics.

P. Chanson, S. Brailly‐Tabard, S. Trabado, 2010, Annales d'endocrinologie.

TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans.

P. Chanson, Jacques Young, S. Brailly‐Tabard, 2010, The Journal of clinical endocrinology and metabolism.

Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.

P. Chanson, Jacques Young, M. Lombès, 2009, The New England journal of medicine.

SRY‐negative 46,XX testicular/ovotesticular DSD: Long‐term outcomes and early blockade of gonadotropic axis

C. Bouvattier, K. McElreavey, M. Peuchmaur, 2020, Clinical endocrinology.

Very low frequency of germline GPR101 genetic variation and no biallelic defects with AIP in a large cohort of patients with sporadic pituitary adenomas.

P. Chanson, Jacques Young, A. Linglart, 2016, European journal of endocrinology.

PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption.

S. A. Jayakody, J. Martinez-Barbera, A. Barlier, 2012, The Journal of clinical endocrinology and metabolism.

SALL 4 and NFATC 2 : two major actors of interstitial 20 q 13 . 2 duplication

A. Briand-Suleau, L. Tosca, J. Martinovic, 2017 .

SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.

J. Vermeesch, A. Benachi, A. Briand-Suleau, 2014, European journal of medical genetics.

Congenital hypogonadotropic hypogonadism/Kallmann Syndrome is associated with statural gain in both men and women: a monocentric study.

P. Chanson, M. Maghnie, Jacques Young, 2019, European journal of endocrinology.

Germline AIP mutations in apparently sporadic pituitary adenomas: prevalence in a prospective single-center cohort of 443 patients.

P. Chanson, Jacques Young, F. Parker, 2012, The Journal of clinical endocrinology and metabolism.

Pathophysiology of Glucocorticoid Signaling.

M. Lombès, B. Delemer, S. Trabado, 2018, Annales d'endocrinologie.

Significant prevalence of NR3C1 mutations in incidentally discovered bilateral adrenal hyperplasia: results of the French MUTA-GR Study.

M. Lombès, B. Delemer, S. Trabado, 2018, European journal of endocrinology.

iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells

G. Livera, J. de Vos, P. Nitschké, 2022, Scientific Reports.

Busulphan-loaded long-circulating nanospheres, a very attractive challenge for both galenists and pharmacologists

A. Paci, G. Vassal, P. Couvreur, 2007, Journal of microencapsulation.

In children and adolescents, the pharmacodynamics of high-dose busulfan is dependent on the second alkylating agent used in the combined regimen (melphalan or thiotepa)

G. Vassal, D. Valteau‐Couanet, O. Hartmann, 2003, Bone Marrow Transplantation.

Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism

Jacques Young, C. Bouvattier, C. Dodé, 2012, Nature Reviews Endocrinology.

GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing.

Jacques Young, N. Binart, L. Maione, 2018, European journal of endocrinology.

Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome

Jacques Young, R. Millar, J. Acierno, 2020, Neuroendocrinology.

Normosmic Congenital Hypogonadotropic Hypogonadism Due to TAC3/TACR3 Mutations: Characterization of Neuroendocrine Phenotypes and Novel Mutations

P. Chanson, Jacques Young, P. Lecomte, 2011, PloS one.

SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development.

Jacques Young, A. Briand-Suleau, L. Tosca, 2012, Human reproduction.

NR5A1 (SF-1) mutations are not a major cause of primary ovarian insufficiency.

M. Lombès, P. Touraine, A. Bachelot, 2013, The Journal of clinical endocrinology and metabolism.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

A. Munnich, C. Fallet-Bianco, I. Gut, 2021, Journal of Medical Genetics.

Genetics defects in GNRH1: A paradigm of hypothalamic congenital gonadotropin deficiency

Jacques Young, S. Brailly‐Tabard, S. Trabado, 2010, Brain Research.

Congenital Hypogonadotropic Hypogonadism Due to GNRH Receptor Mutations in Three Brothers Reveal Sites Affecting Conformation and Coupling

Robert P. Millar, Jacques Young, R. Millar, 2012, PloS one.

New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family.

Jacques Young, L. Tosca, A. Saâd, 2017, Fertility and sterility.

NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency

A. Saâd, J. Warszawski, A. Guiochon‐Mantel, 2016, Clinical genetics.

New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression.

Jacques Young, C. Dodé, K. Azibi, 2015, The Journal of clinical endocrinology and metabolism.

Array comparative genomic hybridization analysis of small supernumerary marker chromosomes in human infertility.

A. Briand-Suleau, L. Tosca, J. Young, 2012, Reproductive biomedicine online.

Hypogonadotropic hypogonadism and GNRH1 mutations in mice and humans.

Jacques Young, A. Guiochon‐Mantel, J. Bouligand, 2010, Frontiers of hormone research.

R31C GNRH1 Mutation and Congenital Hypogonadotropic Hypogonadism

Jacques Young, M. Lombès, M. Gallant, 2013, PloS one.

Pharmacology of Hormone Replacement Therapy in Menopause

Jacques Young, M. Lombès, N. Chabbert-Buffet, 2012 .

Hyperplasia-adenoma sequence in pituitary tumorigenesis related to aryl hydrocarbon receptor interacting protein gene mutation.

M. Junier, C. Sainte-Rose, L. Chiovato, 2011, Endocrine-related cancer.

Gigantism, acromegaly, and GPR101 mutations.

P. Chanson, P. Kamenickỷ, J. Bouligand, 2015, The New England journal of medicine.

Genomic Alterations and Complex Subclonal Architecture in Sporadic GH-Secreting Pituitary Adenomas

P. Chanson, M. Lombès, L. Tosca, 2018, The Journal of clinical endocrinology and metabolism.

Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties

J. Weill, C. Reynaud, C. Bole-Feysot, 2014, The Journal of experimental medicine.

Persistent Müllerian duct syndrome due to anti-Müllerian hormone receptor 2 microdeletions: a diagnostic challenge.

J. Giltay, L. Tosca, C. Bouvattier, 2020, Human reproduction.

AIP mutations impair AhR signaling in pituitary adenoma patients fibroblasts and in GH3 cells.

P. Chanson, Jacques Young, M. Lombès, 2016, Endocrine-related cancer.

AIP mutation in pituitary adenomas.

P. Chanson, L. Cazabat, J. Bouligand, 2011, The New England journal of medicine.

Compromised Volumetric Bone Density and Microarchitecture in men with Congenital Hypogonadotropic Hypogonadism.

Jacques Young, N. Pitteloud, L. Maione, 2021, The Journal of clinical endocrinology and metabolism.

Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis

B. Roquelaure, M. Girard, E. Jacquemin, 2022, Diagnostics.

Quality control and stability study using HPTLC: applications to cyclophosphamide in various pharmaceutical products.

A. Paci, G. Vassal, I. Laville, 2005, Journal of pharmaceutical and biomedical analysis.

Bile Ducts in Regenerative Liver Nodules of Alagille Patients Are Not the Result of Genetic Mosaicism

S. Clément, F. Alvarez, A. Rougemont, 2015, Journal of pediatric gastroenterology and nutrition.

Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study.

P. Chanson, A. Tabarin, R. Scharfmann, 2021, The lancet. Diabetes & endocrinology.

Elevated Plasma Ferritin and Busulfan Pharmacodynamics During High‐dose Chemotherapy Regimens in Children with Malignant Solid Tumors

A. L. Maître, A. Paci, G. Vassal, 2007, Clinical pharmacology and therapeutics.

Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestations.

Jacques Young, D. Dewailly, N. Pitteloud, 2020, Human reproduction.

Tacrolimus dose requirement in pediatric liver transplantation: influence of CYP3A5 gene polymorphism.

C. Verstuyft, L. Becquemont, V. Furlan, 2013, Pharmacogenomics.

Familial Glucocorticoid Receptor Haploinsufficiency by Non-Sense Mediated mRNA Decay, Adrenal Hyperplasia and Apparent Mineralocorticoid Excess

Jacques Young, M. Lombès, S. Viengchareun, 2010, PloS one.

Cistrome of the aldosterone‐activated mineralocorticoid receptor in human renal cells

M. Lombès, S. Viengchareun, K. Lamribet, 2015, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome.

L. Tosca, G. Tachdjian, J. Amiel, 2018, European journal of medical genetics.

Kisspeptin Restores Pulsatile LH Secretion in Patients with Neurokinin B Signaling Deficiencies: Physiological, Pathophysiological and Therapeutic Implications

Jacques Young, J. George, R. Millar, 2012, Neuroendocrinology.

Two Families with Normosmic Congenital Hypogonadotropic Hypogonadism and Biallelic Mutations in KISS1R (KISS1 Receptor): Clinical Evaluation and Molecular Characterization of a Novel Mutation

Jacques Young, R. Roussel, M. Lombès, 2013, PloS one.

Major Depressive Disorder and Oxidative Stress: A Review of Peripheral and Genetic Biomarkers According to Clinical Characteristics and Disease Stages

C. Verstuyft, L. Becquemont, V. Poinsignon, 2023, Antioxidants.

Identification by high-throughput sequencing of HPV variants and quasispecies that are untypeable by linear reverse blotting assay in cervical specimens

C. Deback, F. Bachelerie, R. Bonnin, 2019, Papillomavirus research.

Induction of Glutathione Synthesis Explains Pharmacodynamics of High-Dose Busulfan in Mice and Highlights Putative Mechanisms of Drug Interaction

P. Opolon, E. Connault, A. Paci, 2007, Drug Metabolism and Disposition.

Adrenal GIPR expression and chromosome 19q13 microduplications in GIP-dependent Cushing's syndrome.

P. Chanson, A. Tabarin, F. Faucz, 2017, JCI insight.

Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life

Jacques Young, C. Bouvattier, J. Bouligand, 2015, Orphanet Journal of Rare Diseases.

Impaired 11β-Hydroxysteroid Dehydrogenase Type 2 in Glucocorticoid Resistant Patients.

P. Caron, M. Lombès, O. Chabre, 2019, The Journal of clinical endocrinology and metabolism.

Reversal of congenital hypogonadotropic hypogonadism in a man with Kallmann syndrome due to SOX10 mutation

Jacques Young, J. Nevoux, L. Maione, 2016, Clinical endocrinology.

Explorer R 31 C GNRH 1 mutation and congenital hypogonadotropic hypogonadism

Jacques Young, M. Lombès, M. Gallant, 2017 .

Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) on diagnosis of Cushing's syndrome.

E. Hindié, P. Chanson, A. Tabarin, 2022, Annales d'endocrinologie.

Iron Overload Exacerbates Busulfan-Melphalan Toxicity Through a Pharmacodynamic Interaction in Mice

P. Opolon, A. Paci, G. Vassal, 2016, Pharmaceutical Research.

Molecular Reactivity of Busulfan Through Its Experimental Electrostatic Properties in the Solid State

P. Couvreur, N. Ghermani, R. Gref, 2004, Pharmaceutical Research.

Correction: R31C GNRH1 Mutation and Congenital Hypogonadotropic Hypogonadism

Jacques Young, M. Lombès, M. Gallant, 2013, PLoS ONE.

The MAOA rs979605 Genetic Polymorphism Is Differentially Associated with Clinical Improvement Following Antidepressant Treatment between Male and Female Depressed Patients

E. Corruble, C. Verstuyft, L. Becquemont, 2022, International journal of molecular sciences.

JAG1 and THBS2 Mutations in a Child Presenting With Incomplete Alagille Syndrome

E. Jacquemin, J. Bouligand, M. Almes, 2023, JPGN Reports.

FAP in India: a first genetically proven case

D. Adams, A. Guiochon‐Mantel, D. Pan, 2015, Orphanet Journal of Rare Diseases.

EGR2 gene‐linked hereditary neuropathies present with a bimodal age distribution at symptoms onset

A. Echaniz-Laguna, T. Kuntzer, L. Guyant‐Maréchal, 2023, Journal of the peripheral nervous system : JPNS.

The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres

R. McGowan, A. Novelli, C. Gravholt, 2022, Endocrine connections.

Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

Richard J. Thompson, N. Spinner, J. Feinstein, 2022, Hepatology.

Pubertal growth spurt in patients with bilateral anorchia after testosterone replacement therapy.

C. Bouvattier, J. Bouligand, F. Blin, 2019, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

The association of ARRB1 polymorphisms with response to antidepressant treatment in depressed patients

E. Corruble, F. Gressier, D. David, 2022, Frontiers in Pharmacology.

SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development.

Jacques Young, A. Briand-Suleau, L. Tosca, 2012, Human reproduction.

Pharmacology of Hormone Replacement Therapy in Menopause

Jacques Young, M. Lombès, N. Chabbert-Buffet, 2012 .

Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis. Five Years of Experience in a Clinical Laboratory.

C. Bouvattier, C. Verstuyft, P. Gaignard, 2021, Clinical chemistry.