R. Quinton

Discipline

Psychologie (2) Anthropologie biologique (1)

Type de document

Articles (12)

Co-auteur

Date

Source

Mot-clé

Hypogonadism (11) Patients (10) Patients (10) Scarcity (9) Human beings (8) maladie (7) maladie (7) mutation (6) Mutation (6) analyse (5) gène (5) Genes (5) Puberty (5) Infertility (5) Analysis (5) Infertility (5) cohorte (5) enquête (4) protéine (4) information (4) âge (4) adulte (4) Development (4) Reproduction (4) Treatment (4) Methods (4) Reproduction (4) Neurons (4) Mice (4) Age (4)

Documents écrit par R. Quinton (12) | parle de R. Quinton (0)

NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice.
K. Chachlaki et al. (5 oct. 2022)
Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism.
S.A. Malone et al. (10 juil. 2019)
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.
C. Xu et al.
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
D. Cassatella et al.
DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.
J. Bouilly et al. (15 janv. 2018)
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
C. Xu et al.
Beyond hormone replacement: quality of life in women with congenital hypogonadotropic hypogonadism.
S. Dzemaili et al.
Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism.
C. Badiu et al. (20 mars 2017)
Psychosexual development in men with congenital hypogonadotropic hypogonadism on long-term treatment: a mixed methods study.
A.A. Dwyer et al. (2015)
Identifying the unmet health needs of patients with congenital hypogonadotropic hypogonadism using a web-based needs assessment: implications for online interventions and peer-to-peer support.
A.A. Dwyer et al.
An ancient founder mutation in PROKR2 impairs human reproduction.
M. Avbelj Stefanija et al. (2012)
A genetic basis for functional hypothalamic amenorrhea.
L.M. Caronia et al. (2011)