Results 81 to 90 of about 1,253,968 (181)

MT‐RNR1 genotype testing for preventing aminoglycoside‐mediated ototoxicity: A guideline developed by the UK Centre of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI‐PGx)

British Journal of Clinical Pharmacology, Volume 92, Issue 9, Page 3002-3011, September 2026.
Aminoglycosides are broad‐spectrum antibiotics used in the management of severe infections. Aminoglycosides are associated with nephrotoxicity and ototoxicity. Although dosing strategies such as once‐daily administration and therapeutic drug monitoring have reduced the incidence of nephrotoxicity, ototoxicity remains unpredictable and may occur at ...
John H. McDermott, Sian Hilton, Cinzia Dello Russo, Nicola Booth, Simon Drysdale, Philip Howard, Stephen Hughes, Mallinath Chakraborty, Helen McDevitt, Charlotte Alston, Maya Desai, Mike Beadsworth, Adam Reynolds, Serim Min, Katherine Payne, Munir Pirmohamed, William G. Newman   +16 more
wiley   +1 more source

A Deaf Child with Hypoparathyroidism: A Case Report [PDF]

Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Qum, 2010
Background and Objectives: HDR (hypoparathyroidism, deafness and renal dysplasia) is an autosomal dominant syndrome due to mutation in the glutamyl aminotransferase. We report a deaf child with hypoparathyroidism.
Fallah R, Shajari A
doaj   +2 more sources

CHAMP1 complex directs heterochromatin assembly and promotes homology-directed DNA repair

Nature Communications
The CHAMP1 complex, a little-known but highly conserved protein complex consisting of CHAMP1, POGZ, and HP1α, is enriched in heterochromatin though its cellular function in these regions of the genome remain unknown.
Feng Li, Tianpeng Zhang, Aleem Syed, Amira Elbakry, Noella Holmer, Huy Nguyen, Sirisha Mukkavalli, Roger A. Greenberg, Alan D. D’Andrea   +8 more
doaj   +1 more source

Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome

Endocrine Journal, 2011
GATA3 is a member of the GATA family of transcription factors. Heterozygous GATA3 abnormalities are associated with hypoparathyroidism, sensorineural deafness, and renal abnormality (HDR syndrome). However, this triad of symptoms does not occur in all HDR patients and other clinical features may be present in some cases.
Nakamura, Akie, Fujiwara, Fumie, Hasegawa, Yukihiro, Ishizu, Katsura, Mabe, Akiyo, Nakagawa, Hiroyasu, Nagasaki, Keisuke, Jo, Wakako, Tajima, Toshihiro   +8 more
openaire   +3 more sources

Stereo HDR Disparity Map Computation Using Structured Light

, 2014
In this paper, we present work in progress towards the generation of a ground truth data set for High Dynamic Range (HDR) stereo matching. The development and evaluation of novel stereo matching algorithms that are tailored to the characteristics of HDR ...
Kapeller, Christian, Akhavan, Tara, Gelautz, Margrit, Cho, Ji-Ho   +3 more
core   +2 more sources

Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.

, 2017
Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder, secondary to mutations in the GATA-3 gene. Due to its wide range of penetrance and expressivity, the disease may not always be recognized.
Vanhille, Philippe, Demoulin, Nathalie, Bloch, Julie, Cambier, Jean-François, Belge, Hendrica, Morelle, Johann, Dahan, Karin, Benoit, Valérie, Pirson, Yves   +8 more
core   +1 more source

The PRIME trial: An investigator‐initiated, multicentre, phase II study of the poly(ADP‐ribose) polymerase inhibitor olaparib in isocitrate dehydrogenase (IDH)‐mutated relapsed/refractory acute myeloid leukaemia and myelodysplastic syndromes

British Journal of Haematology, Volume 209, Issue 4, Page 1891-1895, October 2026.
Rory M. Shallis, Jennifer VanOudenhove, Namrata Chandhok, Justin Watts, Deepa Jeyakumar, Daniel R. Reed, Jan Phillip Bewersdorf, Diane Durecki, Scott Boerner, Richard F. Little, Steven D. Gore, Jing Li, Xun Bao, Li Chen, Sayak Ghatak, Thomas Prebet, Ranjit S. Bindra, Amer M. Zeidan, Stephanie Halene   +18 more
wiley   +1 more source

Lung squamous cell carcinoma associated with hypoparathyroidism with sensorineural deafness and renal dysplasia syndrome: a case report [PDF]

, 2018
Hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR) syndrome is an autosomal dominant condition caused by mutations of the gene encoding the dual zinc-finger transcription factor, GATA3. A previous study identified some patients with
Hara, Shigeo, Nishimura, Yoshihiro, Yamamoto, Masatsugu, Kamiryo, Hiroshi, Nagano, Tatsuya, Usui, Takeshi, Nakata, Kyosuke, Katsurada, Naoko, Kobayashi, Kazuyuki, Kojima, Mariko, Tachihara, Motoko   +10 more
core   +1 more source

A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Molecular Genetics and Metabolism Reports
Background: Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome (Barakat syndrome) is a rare autosomal dominant disorder caused by mutations in the gene encoding GATA3 on chromosome 10p14.
Bo Huang, Shiwei Li, Yun Chai, Yu Fan, Xin Li, Yue Liu, Yunhong Fu, Xixi Song, Jingqiu Cui   +8 more
doaj   +1 more source

First African case report of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome due to inverted duplication and deletion of chromosome 10p

Egyptian Journal of Medical Human Genetics
Background Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare autosomal dominant genetic disorder manifesting as a result of haploinsufficiency of the GATA3 gene.
Tumelo M. Satekge, Glenrose Rikhotso, Bianca Rossouw, Bronwyn Dillon, Fiona Baine-Savanhu   +4 more
doaj   +1 more source