Familial Isolated | List of Frontiers open access articles

Original Research

Published on 07 Dec 2023

GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism

in Bone Research

Auryan Szalat
Shoshana Shpitzen
Rena Pollack
Haggi Mazeh
Ronen Durst
Vardiella Meiner

Frontiers in Endocrinology

doi 10.3389/fendo.2023.1254156

2,435 views
4 citations

Case Report

Published on 07 Jul 2020

Different Manifestations in Familial Isolated Left Ventricular Non-compaction: Two Case Reports and Literature Review

in Pediatric Cardiology

Hamida Al Hussein
Hussam Al Hussein
Valentin Stroe
Marius Harpa
Claudiu Ghiragosian
Cristina Maria Goia
Carmen Elena Opris
Horatiu Suciu

Frontiers in Pediatrics

doi 10.3389/fped.2020.00370

4,831 views
5 citations

Original Research

Published on 10 Mar 2023

Clinical and molecular features of four Brazilian families with multiple endocrine neoplasia type 1

in Cancer Endocrinology

Isabella Santiago de Melo Miranda
Luciana Pinto Valadares
Gustavo Barcelos Barra
Pedro Góes Mesquita
Lidiana Bandeira de Santana
Lucas Faria de Castro
Ticiane Henriques Santa Rita
Luciana Ansaneli Naves

Frontiers in Endocrinology

doi 10.3389/fendo.2023.1117873

4,184 views
1 citation

Original Research

Published on 14 Jun 2023

Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion

in Pituitary Endocrinology

Giampaolo Trivellin
Adrian F. Daly
Laura C. Hernández-Ramírez
Elisa Araldi
Christina Tatsi
Ryan K. Dale
Gus Fridell
Arjun Mittal
Fabio R. Faucz
James R. Iben

Frontiers in Endocrinology

doi 10.3389/fendo.2023.1166076

9,420 views
18 citations

Original Research

Published on 10 Feb 2023

AIP gene germline variants in adult Polish patients with apparently sporadic pituitary macroadenomas

in Pituitary Endocrinology

Małgorzata Trofimiuk-Müldner
Bartosz Domagała
Grzegorz Sokołowski
Anna Skalniak
Alicja Hubalewska-Dydejczyk

Frontiers in Endocrinology

doi 10.3389/fendo.2023.1098367

4,121 views
5 citations

Case Report

Published on 07 Oct 2024

Case report: Familial hypoparathyroidism with elevated parathyroid hormone due to an inactivating PTH mutation

in Bone Research

Noha Mukhtar
Balgees Alghamdi
Meshael Alswailem
Afaf Alsagheir
Ali S. Alzahrani

Frontiers in Endocrinology

doi 10.3389/fendo.2024.1415639

3,566 views
1 citation

Original Research

Published on 28 Apr 2022

Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing

in Bone Research

Hye-Sun Park
Yeon Hee Lee
Namki Hong
Dongju Won
Yumie Rhee

Frontiers in Endocrinology

doi 10.3389/fendo.2022.853171

8,083 views
26 citations

Articles

GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism

Different Manifestations in Familial Isolated Left Ventricular Non-compaction: Two Case Reports and Literature Review

Clinical and molecular features of four Brazilian families with multiple endocrine neoplasia type 1

Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion

AIP gene germline variants in adult Polish patients with apparently sporadic pituitary macroadenomas

Case report: Familial hypoparathyroidism with elevated parathyroid hormone due to an inactivating PTH mutation

Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing