GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome
暂无分享,去创建一个
[1] P. Willems,et al. Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia , 2011, Pediatric Nephrology.
[2] Y. Hasegawa,et al. Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome. , 2011, Endocrine journal.
[3] A. Nordgren,et al. Molecular and clinical characterization of patients with overlapping 10p deletions , 2010, American journal of medical genetics. Part A.
[4] M. A. Sepahi,et al. HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Disease) Accompanied by Hirschsprung Disease , 2010, Iranian journal of pediatrics.
[5] Maki Fukami,et al. Diabetes mellitus in a Japanese girl with HDR syndrome and GATA3 mutation. , 2010, Endocrine journal.
[6] X. Xing,et al. Germinal mosaicism of GATA3 in a family with HDR syndrome , 2009, American journal of medical genetics. Part A.
[7] J. Gécz,et al. Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. , 2006, Human molecular genetics.
[8] N. Iwai,et al. Identification of a novel insertion mutation in GATA3 with HDR syndrome , 2005, Clinical and Experimental Nephrology.
[9] B. Harding,et al. Characterization of GATA3 Mutations in the Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome* , 2002, Journal of Biological Chemistry.
[10] B. Allolio,et al. Well-being, mood and calcium homeostasis in patients with hypoparathyroidism receiving standard treatment with calcium and vitamin D. , 2002, European journal of endocrinology.
[11] K. Devriendt,et al. Human Genome and Diseases: Review¶Transcription factor GATA3 and the human HDR syndrome , 2001, Cellular and Molecular Life Sciences CMLS.
[12] Y. Fukushima,et al. GATA3 abnormalities and the phenotypic spectrum of HDR syndrome , 2001, Journal of medical genetics.
[13] Rajesh V. Thakker,et al. GATA3 haplo-insufficiency causes human HDR syndrome , 2000, Nature.
[14] Y. Fukushima,et al. HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13). , 1997, American journal of medical genetics.
[15] E. Fisher,et al. Human haploinsufficiency — one for sorrow, two for joy , 1994, Nature Genetics.
[16] M. Coulthard,et al. Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. , 1992, The New England journal of medicine.
[17] Hans Förstl,et al. What is the psychiatric significance of bilateral basal ganglia mineralization? , 1991, Biological Psychiatry.
[18] T. Tagami,et al. A novel GATA3 nonsense mutation in a newly diagnosed adult patient of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. , 2013, Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists.
[19] M. Kutlu,et al. HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) accompanied by renal tubular acidosis and endocrine abnormalities. , 2008, Internal medicine.
[20] N. Freimer,et al. Functional characterization of GATA 3 mutations causing the hypoparathyroidism-deafness-renal ( HDR ) dysplasia syndrome : insight into mechanisms of DNA binding by the GATA 3 transcription factor , 2007 .
[21] K. Devriendt,et al. Transcription factor GATA 3 and the human HDR syndrome , 2022 .