Nicolas De Roux

Nicolas De Roux

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Nicolas De Roux

Nicolas De Roux

Publications by authors named "Nicolas De Roux"

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Complete Kisspeptin Receptor Inactivation Does Not Impede Exogenous GnRH-Induced LH Surge in Humans.

J Clin Endocrinol Metab 2018 12;103(12):4482-4490

Paris Diderot University, Sorbonne Paris Cité, U1141, Inserm, Paris, France.

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http://dx.doi.org/10.1210/jc.2018-00410DOI Listing
December 2018

High prevalence of syndromic disorders in patients with non-isolated central precocious puberty.

Eur J Endocrinol 2018 Dec;179(6):373-380

Assistance Publique-Hôpitaux de Paris, Robert Debré University Hospital, Endocrinology-Diabetology Department, Reference Center for Endocrine Growth and Developmental Diseases, Paris, France.

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https://eje.bioscientifica.com/view/journals/eje/aop/eje-18-
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http://dx.doi.org/10.1530/EJE-18-0613DOI Listing
December 2018

Rabconnectin-3α is required for the morphological maturation of GnRH neurons and kisspeptin responsiveness.

Sci Rep 2017 02 17;7:42463. Epub 2017 Feb 17.

Univ Paris Diderot, Sorbonne Paris Cité, U1141, Inserm, F- 75019, Paris, France.

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http://dx.doi.org/10.1038/srep42463DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5314327PMC
February 2017

Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty.

Eur J Endocrinol 2016 Jan 1;174(1):1-8. Epub 2015 Oct 1.

AP-HPService d'Endocrinologie Diabétologie Pédiatrique, Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Hôpital Robert Debré, Paris F-75019, FranceUniversité Paris DiderotSorbonne Paris Cité F-75019, FranceInstitut National de la Santé et de la Recherche Médicale (INSERM)Unité 1141, DHU Protect, Paris F-75019, FranceAP-HPINSERM U1141, Laboratoire de Biochimie, Hôpital Robert Debré, 48 Boulevard Sérurier, Paris F-75019, FranceAP-HPExplorations Fonctionnelles Endocriniennes, Hôpital Armand Trousseau, Paris F-75012, FranceCentre d'Endocrinologie Pédiatrique14 Rue du Rempart St-Etienne, Toulouse F-31000, FrancePediatric Endocrinology UnitGaetano Rummo Hospital, Benevento 82100, ItalyPediatric Endocrinology UnitFederico II University, Naples 80131, ItalyService de Pédiatrie MultidisciplinaireCentre de Référence des Maladies Rares d'Origine Hypophysaire, Assistance Publique-Hopitaux de Marseille (APHM), Hôpital de la Timone, Aix-Marseille Université, Marseille F-13385, France AP-HPService d'Endocrinologie Diabétologie Pédiatrique, Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Hôpital Robert Debré, Paris F-75019, FranceUniversité Paris DiderotSorbonne Paris Cité F-75019, FranceInstitut National de la Santé et de la Recherche Médicale (INSERM)Unité 1141, DHU Protect, Paris F-75019, FranceAP-HPINSERM U1141, Laboratoire de Biochimie, Hôpital Robert Debré, 48 Boulevard Sérurier, Paris F-75019, FranceAP-HPExplorations Fonctionnelles Endocriniennes, Hôpital Armand Trousseau, Paris F-75012, FranceCentre d'Endocrinologie Pédiatrique14 Rue du Rempart St-Etienne, Toulouse F-31000, FrancePediatric Endocrinology UnitGaetano Rummo Hospital, Benevento 82100, ItalyPediatric Endocrinology UnitFederico II University, Naples 80131, ItalyService de Pédiatrie MultidisciplinaireCentre de Référence des Maladies Rares d'Origine Hypophysaire, Assistance Publique-Hopitaux de Marseille (APHM), Hôpital de la T

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http://dx.doi.org/10.1530/EJE-15-0488DOI Listing
January 2016

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.

Genet Med 2015 Aug 13;17(8):651-9. Epub 2014 Nov 13.

1] Harvard Reproductive Endocrine Sciences Center and the Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA [2] Department of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital (CHUV), Lausanne, Switzerland [3] Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1038/gim.2014.166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430466PMC
August 2015

Rational design of triazololipopeptides analogs of kisspeptin inducing a long-lasting increase of gonadotropins.

J Med Chem 2015 Apr 13;58(8):3459-70. Epub 2015 Apr 13.

‡Centre de Biophysique Moléculaire (CNRS UPR4301), Rue Charles Sadron, F-45071 Orléans Cedex 2, France.

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http://dx.doi.org/10.1021/jm5019675DOI Listing
April 2015

Absence of GPR54 and TACR3 mutations in sporadic cases of idiopathic central precocious puberty.

Horm Res Paediatr 2014 10;81(3):177-81. Epub 2014 Jan 10.

Division of Endocrinology, Metabolism and Diabetes, 1st Department of Pediatrics, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece.

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http://dx.doi.org/10.1159/000356913DOI Listing
December 2014

Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse.

PLoS Biol 2014 Sep 23;12(9):e1001952. Epub 2014 Sep 23.

Inserm, U1141, Paris, France; Université Paris Diderot, Sorbonne Paris Cité, Hôpital Robert Debré, Paris, France; AP-HP, Laboratoire de Biochimie, Hôpital Robert Debré, Paris, France.

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http://dx.doi.org/10.1371/journal.pbio.1001952DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4172557PMC
September 2014

Somatostatin receptors type 2 and 5 expression and localization during human pituitary development.

Endocrinology 2014 Jan 20;155(1):33-9. Epub 2013 Dec 20.

Medical Research Council Centre for Synaptic Plasticity (S.P.), University of Bristol, School of Physiology and Pharmacology, Bristol BS8 1TD, United Kingdom; Inserm (S.P., F.G., Z.C., S.J., A.F., L.S., N.d.R., P.G., S.A., P.D.), U676, 75019 Paris, France; University Paris Diderot (S.P., F.G., Z.C., S.J., A.F., L.S., N.d.R., P.G., S.A., P.D.), Sorbonne Paris Cité, UMR676, 75019 Paris, France; and Institute of Pharmacology and Toxicology (S.S.), Jena University Hospital, Friedrich Schiller University Jena, Germany.

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http://dx.doi.org/10.1210/en.2013-1683DOI Listing
January 2014

PRR repeats in the intracellular domain of KISS1R are important for its export to cell membrane.

Mol Endocrinol 2013 Jun 22;27(6):1004-14. Epub 2013 Apr 22.

Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche 676, Hôpital Robert Debré, 48 Boulevard Sérurier, 75019 Paris, France.

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http://dx.doi.org/10.1210/me.2012-1386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5415274PMC
June 2013

PROKR2 and PROK2 mutations cause isolated congenital anosmia without gonadotropic deficiency.

Eur J Endocrinol 2013 Jan 10;168(1):31-7. Epub 2012 Dec 10.

Service d'ORL et de Chirurgie Cervico-Faciale and CESEM, UMR, Paris-Descartes School of Medicine, Paris V University, Paris, France.

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http://dx.doi.org/10.1530/EJE-12-0578DOI Listing
January 2013

Negative fetal FSH/LH regulation in late pregnancy is associated with declined kisspeptin/KISS1R expression in the tuberal hypothalamus.

J Clin Endocrinol Metab 2012 Dec 26;97(12):E2221-9. Epub 2012 Sep 26.

Institut National de la Santé et de la Recherche Médicale, Unité 676, F-75739 Paris, France.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2012-2078DOI Listing
December 2012

Genetics of isolated hypogonadotropic hypogonadism: role of GnRH receptor and other genes.

Int J Endocrinol 2012 21;2012:147893. Epub 2011 Dec 21.

Division of Endocrinology and Diabetes, University Hospital Aachen, RWTH Aachen University, 52074 Aachen, Germany.

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http://dx.doi.org/10.1155/2012/147893DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3249753PMC
August 2012

DNA polymorphisms of the KiSS1 3' untranslated region interfere with the folding of a G-rich sequence into G-quadruplex.

Mol Cell Endocrinol 2012 Apr 30;351(2):239-48. Epub 2011 Dec 30.

INSERM, U676, Hôpital Robert-Debré, 75935 Paris Cedex 19, France; Paris Diderot University, 75018 Paris, France.

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http://dx.doi.org/10.1016/j.mce.2011.12.014DOI Listing
April 2012

[The genetic control of puberty onset].

Bull Acad Natl Med 2012 Feb;196(2):327-40; discussion 340-3

Endocrinologie, Inserm U 676, Hôpital Robert Debré, 48 bld Serurier-75935 Paris.

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February 2012

A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family.

J Clin Endocrinol Metab 2011 Mar 30;96(3):E536-45. Epub 2010 Dec 30.

The Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children's Medical Center of Israel, 14 Kaplan Street, Petah Tikva 49202, Israel.

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http://dx.doi.org/10.1210/jc.2010-1676DOI Listing
March 2011

KISS1 is down-regulated by 17beta-estradiol in MDA-MB-231 cells through a nonclassical mechanism and loss of ribonucleic acid polymerase II binding at the proximal promoter.

Endocrinology 2010 Aug 9;151(8):3764-72. Epub 2010 Jun 9.

Avenir Team Genetic and Physiology of the Onset of Puberty, Institut National de la Santé et de laRecherche Médicale Unité 676, Hopital Robert Debré, and Université Paris Diderot, 75019 Paris, France.

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http://dx.doi.org/10.1210/en.2010-0260DOI Listing
August 2010

Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations.

Int J Paediatr Dent 2010 Jul;20(4):305-12

Paediatric Dentistry, Garancière Hotel-Dieu Hospital, Assistance Publique-Hôpitaux de Paris, Paris Diderot University, France.

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http://dx.doi.org/10.1111/j.1365-263X.2010.01056.xDOI Listing
July 2010

Pituitary-thyroid feedback in a patient with a sporadic activating thyrotropin (TSH) receptor mutation: implication that thyroid-secreted factors other than thyroid hormones contribute to serum TSH levels.

J Clin Endocrinol Metab 2009 Aug 19;94(8):2787-91. Epub 2009 May 19.

Pediatric Endocrinology Unit, Centre de Référence Maladies Endocriniennes de la Croissance, and INSERM Unité 690, Robert Debré Hospital, Université Paris-Diderot Paris 7, 48 Boulevard Sérurier, Paris, France.

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http://dx.doi.org/10.1210/jc.2008-2524DOI Listing
August 2009

An inactivating mutation within the first extracellular loop of the thyrotropin receptor impedes normal posttranslational maturation of the extracellular domain.

Endocrinology 2009 Feb 16;150(2):1043-50. Epub 2008 Oct 16.

Institut National de la Santé et de la Recherche Médicale (INSERM) Unité 690, Hôpital Robert-Debré, Paris, France.

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http://dx.doi.org/10.1210/en.2008-1145DOI Listing
February 2009

[Biological mechanisms and genes involved in puberty].

Rev Prat 2008 Jun;58(12):1305-9

Equipe Avenir Génétique et physiologie de l'initiation de la puberté Inserm U690, hôpital Robert-Debré, Université Paris-Diderot Paris-7, 75935 Paris Cedex 19, France.

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June 2008

Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54.

J Clin Endocrinol Metab 2007 Mar 12;92(3):1137-44. Epub 2006 Dec 12.

Pediatric Endocrine Unit, Ha'Emek Medical Center, Afula 18101, Israel.

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http://dx.doi.org/10.1210/jc.2006-2147DOI Listing
March 2007

GnRH receptor and GPR54 inactivation in isolated gonadotropic deficiency.

Authors:
Nicolas de Roux

Best Pract Res Clin Endocrinol Metab 2006 Dec;20(4):515-28

INSERM U690, Hôpital Robert Debre, 48 Bld Serurier, 75019 Paris, France.

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http://linkinghub.elsevier.com/retrieve/pii/S1521690X0600084
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http://dx.doi.org/10.1016/j.beem.2006.10.005DOI Listing
December 2006

Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).

Mol Cell Endocrinol 2006 Jul 6;254-255:78-83. Epub 2006 Jun 6.

Assistance Publique Hôpitaux de Paris, Robert Debre Hospital Paediatric Endocrinology unit, Robert Debré Hospital, Paris, France.

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http://dx.doi.org/10.1016/j.mce.2006.04.006DOI Listing
July 2006

The incidence of Rett syndrome in France.

Pediatr Neurol 2006 May;34(5):372-5

University Paris 5, Cochin Institute, INSERM U567, Centre National de la Recherche Scientifique/Unitré Mixte de Reserche 8104, Paris, France.

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http://dx.doi.org/10.1016/j.pediatrneurol.2005.10.013DOI Listing
May 2006

Isolated gonadotropic deficiency with and without anosmia: a developmental defect or a neuroendocrine regulation abnormality of the gonadotropic axis.

Authors:
Nicolas de Roux

Horm Res 2005 ;64 Suppl 2:48-55

Laboratoire d'Hormonologie et Biologie Moléculaire, Hôpital de Bicêtre, Le Kremlin-Bicêtre, and INSERM U584, Faculté de Médecine Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1159/000087754DOI Listing
December 2005

[GnRH resistance and the GPR54 gene].

Authors:
Nicolas de Roux

Ann Urol (Paris) 2005 Oct;39 Suppl 3:S37-45

Service de génétique moléculaire, pharmacogénétique et hormonologie, hôpital de Bicêtre, 78, rue du Général-Leclerc, 94275 Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1016/s0003-4401(05)80006-3DOI Listing
October 2005

TSH receptor mutation V509A causes familial hyperthyroidism by release of interhelical constraints between transmembrane helices TMH3 and TMH5.

J Endocrinol 2005 Aug;186(2):377-85

Pediatric Endocrinology, University Children's Hospital, University of Ulm, Prittwitzstrasse 43, D-89075 Ulm, Germany.

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http://dx.doi.org/10.1677/joe.1.06208DOI Listing
August 2005

[GnRH resistance and the gene GPR54].

Authors:
Nicolas de Roux

Rev Prat 2005 ;Spec. No:16-9

Inserm Unité 584, Faculté de médecine, Necker Enfants Malades.

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June 2005

Molecular genetics of isolated hypogonadotropic hypogonadism and Kallmann syndrome.

Endocr Dev 2005 ;8:67-80

University Children's Hospital, University of Ulm, Ulm, Germany; INSERM U584, Hormone Targets, Medical Faculty Necker-Enfants Malades, nd University Paris XI, Paris, France.

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http://dx.doi.org/10.1159/000084094DOI Listing
May 2005

New insights in the genetics of isolated hypogonadotropic hypogonadism.

Eur J Endocrinol 2004 Nov;151 Suppl 3:U83-8

INSERM U584, Faculte de Medecine Necker-Enfants Malades, 156 rue de Vaugirard, 75015 Paris, France.

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http://dx.doi.org/10.1530/eje.0.151u083DOI Listing
November 2004

Clinical and molecular genetics of the human GnRH receptor.

Hum Reprod Update 2003 Nov-Dec;9(6):523-30

Pediatric Endocrinology, University Children's Hospital, University of Ulm, 89075 Ulm, Germany.

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http://dx.doi.org/10.1093/humupd/dmg040DOI Listing
July 2004

Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54.

Proc Natl Acad Sci U S A 2003 Sep 27;100(19):10972-6. Epub 2003 Aug 27.

Institut National de la Santé et de la Recherche Médicale Unité 135, Unité de Recherches Hormones Gènes et Reproduction, Hôpital de Bicêtre, 94275 Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1073/pnas.1834399100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC196911PMC
September 2003

Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism.

J Clin Endocrinol Metab 2003 Apr;88(4):1873-9

INSERM, U-135, Unité de Recherches Hormones Gènes et Reproduction, Hôpital de Bicêtre, Le-Kremlin-Bicêtre, 94270 Paris, France.

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http://dx.doi.org/10.1210/jc.2002-020005DOI Listing
April 2003

Spectrum of MECP2 mutations in Rett syndrome.

Genet Test 2002 ;6(1):1-6

INSERM U129-ICGM, Faculté de Médecine Cochin, 75014 Paris, France.

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http://dx.doi.org/10.1089/109065702760093843DOI Listing
December 2002