List of works - Jacques Young

A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor

scientific article

An ancient founder mutation in PROKR2 impairs human reproduction

scientific article

Cardiac structure and function in Cushing's syndrome: a cardiac magnetic resonance imaging study

scientific article

Clinical Management of Congenital Hypogonadotropic Hypogonadism

scientific article published on 01 April 2019

Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey

scientific article published on 30 March 2015

Congenital hypogonadotropic hypogonadism and Kallmann syndrome as models for studying hormonal regulation of human testicular endocrine functions

scientific article published on 09 May 2014

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism

scientific article published on 20 March 2017

Effects of cortisol on the heart: characterization of myocardial involvement in cushing's disease by longitudinal cardiac MRI T1 mapping

scholarly article by Charles Roux et al published 9 July 2016 in Journal of Magnetic Resonance Imaging

Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment

scientific article

French law: what about a reasoned reimbursement of serum vitamin D assays?

scientific article published on 4 November 2016

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

scientific article published on 29 September 2010

Hyperprolactinemia-induced ovarian acyclicity is reversed by kisspeptin administration.

scientific article

Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency.

scientific article published on 7 September 2016

Illicit Upregulation of Serotonin Signaling Pathway in Adrenals of Patients With High Plasma or Intra-Adrenal ACTH Levels

scientific article published on 01 November 2019

Insulin-like peptide 3 (INSL3) in men with congenital hypogonadotropic hypogonadism/Kallmann syndrome and effects of different modalities of hormonal treatment: a single-center study of 281 patients

scientific article

Intraadrenal corticotropin in bilateral macronodular adrenal hyperplasia

scientific article published on November 2013

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

scientific article published on 20 October 2006

Ketoconazole in Cushing's disease: is it worth a try?

scientific article published on 28 January 2014

Metaproteomics reveals functional shifts in microbial and human proteins during a preterm infant gut colonization case

scientific article published on 16 June 2015

Mitotane for 21-hydroxylase deficiency in an infertile man

scientific article published on 01 November 2014

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism

scientific article

Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism.

scientific article

Neurosteroids: pregnenolone in human sciatic nerves ⬇️

scientific article (publication date: August 1992)

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

scientific article published on 16 December 2014

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

scientific article published on 05 March 2010

Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations

scientific article

One-Year Progression-Free Survival of Therapy-Naive Patients With Malignant Pheochromocytoma and Paraganglioma

scientific article published on 24 July 2013

PKA regulatory subunit 1A inactivating mutation induces serotonin signaling in primary pigmented nodular adrenal disease.

scientific article published on 22 September 2016

Phage-induced expression of CRISPR-associated proteins is revealed by shotgun proteomics in Streptococcus thermophilus

scientific article (publication date: 2012)

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.

scientific article

Prolactin - a pleiotropic factor in health and disease

scientific article published on 01 June 2019

SDHBmutations are associated with response to temozolomide in patients with metastatic pheochromocytoma or paraganglioma

article

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

scientific article

Selective modification of a native protein in a patient tissue homogenate using palladium nanoparticles

scientific article published on 29 November 2019

Similarities and differences in the reproductive phenotypes of women with congenital hypogonadotrophic hypogonadism caused by GNRHR mutations and women with polycystic ovary syndrome

scientific article published on 01 January 2019

[HAS report on vitamin D measurement: don't go from an extreme situation to another as extreme situation]

scientific article published on 01 January 2014

[Weakening osteopathies, chronic kidney disease, malabsorption, biological anomalies of calium/phosphorus metabolism: appropriate indications for a reasoned reimbursment of serum vitamin D measurement]

scientific article published on 01 July 2014

List of works by Jacques Young

A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor

An ancient founder mutation in PROKR2 impairs human reproduction

Cardiac structure and function in Cushing's syndrome: a cardiac magnetic resonance imaging study

Clinical Management of Congenital Hypogonadotropic Hypogonadism

Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey

Congenital hypogonadotropic hypogonadism and Kallmann syndrome as models for studying hormonal regulation of human testicular endocrine functions

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism

Effects of cortisol on the heart: characterization of myocardial involvement in cushing's disease by longitudinal cardiac MRI T1 mapping

Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment

French law: what about a reasoned reimbursement of serum vitamin D assays?

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

Hyperprolactinemia-induced ovarian acyclicity is reversed by kisspeptin administration.

Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency.

Illicit Upregulation of Serotonin Signaling Pathway in Adrenals of Patients With High Plasma or Intra-Adrenal ACTH Levels

Insulin-like peptide 3 (INSL3) in men with congenital hypogonadotropic hypogonadism/Kallmann syndrome and effects of different modalities of hormonal treatment: a single-center study of 281 patients

Intraadrenal corticotropin in bilateral macronodular adrenal hyperplasia

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

Ketoconazole in Cushing's disease: is it worth a try?

Metaproteomics reveals functional shifts in microbial and human proteins during a preterm infant gut colonization case

Mitotane for 21-hydroxylase deficiency in an infertile man

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism

Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism.

Neurosteroids: pregnenolone in human sciatic nerves ⬇️

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

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

Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations

One-Year Progression-Free Survival of Therapy-Naive Patients With Malignant Pheochromocytoma and Paraganglioma

PKA regulatory subunit 1A inactivating mutation induces serotonin signaling in primary pigmented nodular adrenal disease.

Phage-induced expression of CRISPR-associated proteins is revealed by shotgun proteomics in Streptococcus thermophilus

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.

Prolactin - a pleiotropic factor in health and disease

SDHBmutations are associated with response to temozolomide in patients with metastatic pheochromocytoma or paraganglioma

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

Selective modification of a native protein in a patient tissue homogenate using palladium nanoparticles

Similarities and differences in the reproductive phenotypes of women with congenital hypogonadotrophic hypogonadism caused by GNRHR mutations and women with polycystic ovary syndrome

[HAS report on vitamin D measurement: don't go from an extreme situation to another as extreme situation]

[Weakening osteopathies, chronic kidney disease, malabsorption, biological anomalies of calium/phosphorus metabolism: appropriate indications for a reasoned reimbursment of serum vitamin D measurement]