Suchergebnisse - "Aromatase deficiency"

PubPharm (31)

1

46,XX aromatase deficiency : A single-center experience with the varied spectrum and recurrent variants, and a systematic review of hormonal parameters

enthalten in: Annales d'endocrinologie | 2024

von Yami Channaiah, C. | Memon, S. | Sarathi, V. | +10

2

Aromatase deficiency caused by mutation of CYP19A1 gene : A case report

enthalten in: Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences | 2022

von Li, H. | Fu, S. | Dai, R. | +2

3

A Novel Homozygous CYP19A1 Gene Mutation Causing Aromatase Deficiency

enthalten in: Cureus | 2022

von Hathi, D. | Goswami, S. | Sengupta, N. | +1

4

Aromatase deficiency in an Ontario Old Order Mennonite family

enthalten in: Journal of pediatric endocrinology & metabolism : JPEM | 2021

von Kim, S. | Colaiacovo, S. | Dave, S. | +4

5

Aromatase deficiency : A case series of 46, XX Chinese children and a systematic review of the literature

enthalten in: Clinical endocrinology | 2020

von Fan, L. | Zhang, B. | Li, L. | +1

6

Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function

enthalten in: Journal of the Endocrine Society | 2020

von Praveen, V. | Ladjouze, A. | Sauter, K. | +6

7

Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders : A Novel Mutation (p.R115X) in the CYP19A1 Gene

enthalten in: Journal of clinical research in pediatric endocrinology | 2020

von Özen, S. | Atik, T. | Korkmaz, �. | +5

8

Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene

in: JCRPE | 2020

von Samim Özen | Tahir Atik | Özlem Korkmaz | +5

9

46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis : Genetic, Biochemical, and Clinical Features

enthalten in: International journal of molecular sciences | 2019

von Baronio, F. | Ortolano, R. | Menabò, S. | +6

10

A Novel Homozygous CYP19A1 Gene Mutation : Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation

enthalten in: Journal of clinical research in pediatric endocrinology | 2019

von Dursun, F. | Ceylaner, S.