Associated Papers
Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.
Allsopp RC et al.
Bmc Cancer, 2025
Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.
Abujamous L et al.
The Oncologist, 2025
Genomic landscape of hormone therapy-resistant HR-positive, HER2-negative breast cancer.
Chaubal R et al.
Breast Cancer Research and Treatment, 2025
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
Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life.
Werfel L et al.
Kidney International Reports, 2023
Altered cytoplasmic and nuclear ADP-ribosylation levels analyzed with an improved ADP-ribose binder are a prognostic factor in renal cell carcinoma.
Schraml P et al.
The Journal of Pathology. Clinical Research, 2023
Hypoparathyroidism, Sensorineural Deafness, and Renal Disease Syndrome Presenting With Febrile Seizures and Hypocalcemia.
Gandolfi A et al.
Jcem Case Reports, 2023
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
Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.
Berrino E et al.
Genome Medicine, 2022
A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation.
Kishi H et al.
Clinical Case Reports, 2020
Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA.
Wang Y et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019
Pan-cancer whole-genome analyses of metastatic solid tumours.
Priestley P et al.
Nature, 2019
The prognostic effects of somatic mutations in ER-positive breast cancer.
Griffith OL et al.
Nature Communications, 2018
A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome.
Yeşiltepe Mutlu G et al.
Journal of Clinical Research in Pediatric Endocrinology, 2015
The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome.
Döneray H et al.
Journal of Clinical Research in Pediatric Endocrinology, 2015
Comprehensive next-generation sequencing analyses of hypoparathyroidism: identification of novel GCM2 mutations.
Mitsui T et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
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
Germinal mosaicism of GATA3 in a family with HDR syndrome.
Sun Y et al.
American Journal of Medical Genetics. Part A, 2009
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
Ali A et al.
Human Molecular Genetics, 2007
Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.
Nesbit MA et al.
The Journal of Biological Chemistry, 2004
GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.
Muroya K et al.
Journal of Medical Genetics, 2001
A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene.
Martins FTA et al.
Genetics and Molecular Biology, 0