Associated Papers
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
40913078 (PubMed )
Supplement: NIHMS2114636-supplement-Supplemental_Table_S1.xlsx › Table_S1
Case report: a case of hypoparathyroidism-sensorineural deafness-renal dysplasia syndrome.
Yang J et al.
Frontiers in Genetics, 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
Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.
Sansović I et al.
Croatian Medical Journal, 2024
Clinical and molecular characteristics of two Italian kindreds with hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome.
Dinoi E et al.
Journal of Endocrinological Investigation, 2024
FUS-ERG induces late-onset azacitidine resistance in acute myeloid leukaemia cells.
Asai-Nishishita A et al.
Scientific Reports, 2023
37660196 (PubMed )
Supplement: 41598_2023_41230_MOESM1_ESM.docx
Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing.
Huang R et al.
Human Genetics, 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
37693317 (PubMed )
Supplement: Table1.xlsx › Sheet1
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
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
HDR syndrome in a Colombian woman with a genital tract malformation: First case report in Latin America.
Vallejo-Urrego MA et al.
Revista De Salud Publica (bogota, Colombia), 0
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