Associated Papers
Clinical and genetic characteristics of hypoparathyroidism in children: a multicenter experience in China.
Shen Y et al.
Journal of Endocrinological Investigation, 2025
A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family.
Hasegawa Y et al.
Endocrine Journal, 2024
HDR syndrome: Large cohort and systematic review.
Rive Le Gouard N et al.
Clinical Genetics, 2024
Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing.
Xiang J et al.
Orphanet Journal of Rare Diseases, 2024
Clinical and molecular predictors of very late recurrence in oestrogen receptor-positive breast cancer patients.
Richman J et al.
Breast Cancer Research and Treatment, 2024
A GATA3 gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review.
Tao Y et al.
Frontiers in Genetics, 2023
A pragmatic approach to selective genetic testing in kidney transplant candidates.
Nissaisorakarn P et al.
Frontiers in Transplantation, 2023
De novo variants are a common cause of genetic hearing loss.
Klimara MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Chronological genome and single-cell transcriptome integration characterizes the evolutionary process of adult T cell leukemia-lymphoma.
Yamagishi M et al.
Nature Communications, 2021
[Clinical and genetic characteristics of primary hypoparathyroidism in children].
Song FY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2020
Familial congenital choanal atresia with GATA3 associated hypoparathyroidism-deafness-renal dysplasia syndrome unidentified on auditory brainstem response.
Kita M et al.
Auris, Nasus, Larynx, 2019
Identification of a novel GATA3 mutation in a deaf Taiwanese family by massively parallel sequencing.
Lin YH et al.
Mutation Research, 2015
Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome.
Nakamura A et al.
Endocrine Journal, 2011
HDR syndrome: a novel "de novo" mutation in GATA3 gene.
Ferraris S et al.
American Journal of Medical Genetics. Part A, 2009
Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations.
Hernández AM et al.
American Journal of Medical Genetics. Part A, 2007