Nicolas de Roux
De Roux, Nicolas, 19..-....
Roux, Nicolas de
VIAF ID: 217463280 (Personal)
Permalink: http://viaf.org/viaf/217463280
Preferred Forms
- 100 1 _ ‡a De Roux, Nicolas, ‡d 19..-....
- 100 0 _ ‡a Nicolas de Roux
- 100 1 _ ‡a Roux, Nicolas de
4xx's: Alternate Name Forms (3)
Works
Title | Sources |
---|---|
Absence of GPR54 and TACR3 mutations in sporadic cases of idiopathic central precocious puberty. | |
Analysis of the thyrotropin receptor as a candidate gene in familial Graves' disease | |
[Biological mechanisms and genes involved in puberty] | |
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder. | |
Characterization of the KISS1 promoter and the molecular mechanisms of its regulation. | |
Clinical and molecular genetics of the human GnRH receptor. | |
Complete Kisspeptin Receptor Inactivation Does Not Impede Exogenous GnRH-Induced LH Surge in Humans | |
[Congenital hypogonadotropic hypogonadism] | |
DLK1 is a somato-dendritic protein expressed in hypothalamic arginine-vasopressin and oxytocin neurons | |
DNA polymorphisms of the KiSS1 3′ Untranslated region interfere with the folding of a G-rich sequence into G-quadruplex | |
Etude de la région promotrice du Gène KISS1 et caractérisation des mécanismes moléculaires de sa régulation | |
Etude du rôle de la protéine, Rabconnectin-3α, dans la maturation et activation des neurones Gonadotropin-Releasing Hormone (GnRH), français | |
Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations | |
Four families with loss of function mutations of the thyrotropin receptor | |
Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion. | |
[The genetic control of puberty onset] | |
Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population. | |
[GnRH resistance and the gene GPR54] | |
Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse | |
High tumoral levels of Kiss1 and G-protein-coupled receptor 54 expression are correlated with poor prognosis of estrogen receptor-positive breast tumors. | |
IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty | |
Impact of circadian disruption on female mice reproductive function. | |
Implication de la région 12q chez la souris, synthénique de la région 14q32 chez l'homme, dans la maturation hypothalamique | |
The incidence of Rett syndrome in France | |
Involvement of the 12q region in mice, syntenic of the 14q32 region in humans in the hypothalamic maturation. | |
Isolated gonadotropic deficiency with and without anosmia: a developmental defect or a neuroendocrine regulation abnormality of the gonadotropic axis. | |
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. | |
Lack of association between HFE gene mutations and hepatocellular carcinoma in patients with cirrhosis | |
Lack of detection of novel nonsense mutations on exon 3 of hemochromatosis gene in patients with hepatic iron overload | |
Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes | |
MicroRNA and hypophyseal gonadotrope function. | |
Microsatellites and PCR primers for genetic studies and genomic sequencing of the human TSH receptor gene | |
Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty | |
Na(+)-H+ exchanger expression in vascular smooth muscle of spontaneously hypertensive and Wistar-Kyoto rats | |
Negative fetal FSH/LH regulation in late pregnancy is associated with declined kisspeptin/KISS1R expression in the tuberal hypothalamus. | |
Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54 | |
Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1). | |
Perturbation de la rythmicité circadienne : impact sur la fonction reproductive de souris femelles | |
PRR repeats in the intracellular domain of KISS1R are important for its export to cell membrane. | |
Rabconnectin-3α is required for the morphological maturation of GnRH neurons and kisspeptin responsiveness | |
Rational design of triazololipopeptides analogs of kisspeptin inducing a long-lasting increase of gonadotropins | |
Somatostatin receptors type 2 and 5 expression and localization during human pituitary development. | |
Spectrum of MECP2 mutations in Rett syndrome | |
TSH receptor mutation V509A causes familial hyperthyroidism by release of interhelical constraints between transmembrane helices TMH3 and TMH5. | |
Zero-length cross-linking reveals that tight interactions between the extracellular and transmembrane domains of the luteinizing hormone receptor persist during receptor activation. |