J. Acierno

Discipline

Psychologie (1)

Type de document

Articles (7)

Co-auteur

Date

Source

Mot-clé

Human beings (5) mutation (4) Development (4) Scarcity (4) Reproduction (4) Patients (4) Hypogonadism (4) Patients (4) Mutation (4) puits (3) protéine (3) analyse (3) Diagnosis (3) Reproduction (3) Treatment (3) Phenotype (3) Puberty (3) Neurons (3) Mice (3) Growth (3) Diagnosis (3) Animals (3) Analysis (3) Growth (3) cohorte (3) poids (2) association (2) mutant (2) métabolisme (2) perte (2)

Documents écrit par J. Acierno (7) | parle de J. Acierno (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)
A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay.
M.C. Antoniou et al.
The Reduction of Visceral Adipose Tissue after Roux-en-Y Gastric Bypass Is more Pronounced in Patients with Impaired Glucose Metabolism.
L. Favre et al.
Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development.
Z. Kolesinska et al.
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.
C. Xu et al.
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
C. Xu et al.