F. Phan-Hug

Type de document

Articles (8) Recensions (1)

Co-auteur

Date

Source

Mot-clé

Patients (6) Patients (6) gène (5) Human beings (5) mutation (4) Development (4) Scarcity (4) Puberty (4) Hypogonadism (4) Mutation (4) puits (3) protéine (3) analyse (3) Human chromosome abnormalities--Diagnosis (3) Analysis (3) test (2) spectacle (2) perte (2) évaluation (2) maladie (2) âge (2) adulte (2) Treatment (2) Case (2) Care (2) Forms (2) Abnormalities (2) Genes (2) Testosterone (2) Sex (2)

Documents écrit par F. Phan-Hug (8) | parle de F. Phan-Hug (0)

Testosterone-induced increase in libido in a patient with a loss-of-function mutation in the AR gene.
L. Marino et al. (1 juin 2021)
A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay.
M.C. Antoniou 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)
Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.
J. Tommiska et al. (3 nov. 2017)
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)
Patients avec variation du développement sexuel : un exemple de prise en charge interdisciplinaire [Patients with variations of sex development : an example of interdisciplinary care]
F. Phan-Hug et al. (9 nov. 2016)
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.
C. Villanueva et al.