Endocrine Genetics | List of Frontiers open access articles

Brief Research Report

Published on 09 Apr 2024

Identification of a novel ANK1 gene variant c.1504-9G>A and its mechanism of intron retention in hereditary spherocytosis

in Genetics of Common and Rare Diseases

Ting Xiong
Zhongjin Xu
Qian Wan
Feng Chen
Yao Ye
Hong Wang
Chongjun Wu

Frontiers in Genetics

doi 10.3389/fgene.2024.1390924

3,141 views
4 citations

Opinion

Published on 17 Jul 2018

Questions and Controversies About Parathyroid Pathophysiology in Children With Multiple Endocrine Neoplasia Type 1

in Cancer Endocrinology

Stephen J. Marx
Delmar M. Lourenço

Frontiers in Endocrinology

doi 10.3389/fendo.2018.00359

3,655 views
3 citations

Brief Research Report

Published on 18 Mar 2021

Preliminary Study on the Clinical and Genetic Characteristics of Hereditary Spherocytosis in 15 Chinese Children

in Genetics of Common and Rare Diseases

Chongjun Wu
Ting Xiong
Zhongjin Xu
Chunlei Zhan
Feng Chen
Yao Ye
Hong Wang
Yu Yang

Frontiers in Genetics

doi 10.3389/fgene.2021.652376

6,936 views
18 citations

Original Research

Published on 05 May 2025

Investigating TSHR gene variants in consanguineous families: novel insights into variable expression in familial congenital hypothyroidism

in Thyroid Endocrinology

Zakiye Nadeali
Zohreh Mohammadi-Zaniani
Sajjad Biglari
Newsha Molavi
Khashayar Zardoui
Sam Mirfendereski
Mahin Hashemipour
Mohammad Amin Tabatabaiefar
Constantin Polychronakos

Frontiers in Endocrinology

doi 10.3389/fendo.2025.1559281

3,257 views
2 citations

Editorial

Published on 15 Apr 2020

Editorial: Early Genetic and Clinical Diagnosis in MEN1

in Cancer Endocrinology

Delmar M. Lourenço
Wouter W. de Herder

Frontiers in Endocrinology

doi 10.3389/fendo.2020.00218

4,913 views
2 citations

Correction

Published on 02 Jan 2026

Correction: Identification of a novel ANK1 gene variant c.1504-9G>A and its mechanism of intron retention in hereditary spherocytosis

in Genetics of Common and Rare Diseases

Ting Xiong
Zhongjin Xu
Qian Wan
Feng Chen
Yao Ye
Hong Wang
Chongjun Wu

Frontiers in Genetics

doi 10.3389/fgene.2025.1762322

1,003 views

Original Research

Published on 19 Nov 2025

A novel CTLA-4 deletion variant in a child with refractory autoimmune hemolytic anemia: molecular and functional characterization

in Autoimmune and Autoinflammatory Disorders : Autoimmune Disorders

Feng Chen
Siyu Lei
Caihui Yuan
Zhongjin Xu
Qian Wan
Chongjun Wu
Ting Xiong

Frontiers in Immunology

doi 10.3389/fimmu.2025.1665184

1,760 views

Case Report

Published on 28 Aug 2019

Giant Prolactinoma Causing Hydrocephalus and Intracranial Hypertension as First Manifestations of Multiple Endocrine Neoplasia Type 1

in Pituitary Endocrinology

Naiara C. B. Dantas
Carlos E. L. Soares
Manoel R. A. Martins
Delmar M. Lourenço
Ana R. P. Quidute

Frontiers in Endocrinology

doi 10.3389/fendo.2019.00582

4,928 views
6 citations

Original Research

Published on 07 Mar 2019

Could the Less-Than Subtotal Parathyroidectomy Be an Option for Treating Young Patients With Multiple Endocrine Neoplasia Type 1-Related Hyperparathyroidism?

in Cancer Endocrinology

Fabio Luiz de Menezes Montenegro
Marilia D'Elboux Guimaraes Brescia
Delmar Muniz Lourenço
Sergio Samir Arap
Andre Fernandes d'Alessandro
Gilberto de Britto e Silva Filho
Sergio Pereira de Almeida Toledo

Frontiers in Endocrinology

doi 10.3389/fendo.2019.00123

4,330 views
29 citations

Original Research

Published on 11 Aug 2022

Short-term efficacy and safety of a lower dose of polyethylene glycol recombinant human growth hormone in children with growth hormone deficiency: A randomized, dose-comparison study

in Obstetric and Pediatric Pharmacology

Zhouhong Jiang
Xuefeng Chen
Guanping Dong
Yin Lou
Jianping Zhang
Xinran Cheng
Jiayan Pan
Wei Liao
Jinzhun Wu
Xiaodong Huang

Frontiers in Pharmacology

doi 10.3389/fphar.2022.955809

6,196 views
15 citations

Original Research

Published on 07 May 2026

Hyperinsulinemic hypoglycemia due to pathogenic INSR variants: metabolic signature, phenotypic overlap, and semidominant inheritance

in Diabetes: Molecular Mechanisms

Ramon Marcelino do Nascimento
Andrey dos Santos
Dioze Guadagnini
Lucas Santos de Santana
Augusto Cezar Junior Santomauro
Caroline Gouveia Buff Passone
Milena Gurgel Teles Bezerra
Larissa Garcia Gomes
Maria Lucia Corrêa-Giannella
Marcia Nery

Frontiers in Endocrinology

doi 10.3389/fendo.2026.1716020

499 views

Articles

Identification of a novel ANK1 gene variant c.1504-9G>A and its mechanism of intron retention in hereditary spherocytosis

Questions and Controversies About Parathyroid Pathophysiology in Children With Multiple Endocrine Neoplasia Type 1

Preliminary Study on the Clinical and Genetic Characteristics of Hereditary Spherocytosis in 15 Chinese Children

Investigating TSHR gene variants in consanguineous families: novel insights into variable expression in familial congenital hypothyroidism

Editorial: Early Genetic and Clinical Diagnosis in MEN1

Correction: Identification of a novel ANK1 gene variant c.1504-9G>A and its mechanism of intron retention in hereditary spherocytosis

A novel CTLA-4 deletion variant in a child with refractory autoimmune hemolytic anemia: molecular and functional characterization

Giant Prolactinoma Causing Hydrocephalus and Intracranial Hypertension as First Manifestations of Multiple Endocrine Neoplasia Type 1

Could the Less-Than Subtotal Parathyroidectomy Be an Option for Treating Young Patients With Multiple Endocrine Neoplasia Type 1-Related Hyperparathyroidism?

Short-term efficacy and safety of a lower dose of polyethylene glycol recombinant human growth hormone in children with growth hormone deficiency: A randomized, dose-comparison study

Hyperinsulinemic hypoglycemia due to pathogenic INSR variants: metabolic signature, phenotypic overlap, and semidominant inheritance