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Quoted phrase not found in phrase index: "Ataxia-telangiectasia-like disorder 2"
Page 1
Defining the progeria phenome.
Worm C, Schambye MER, Mkrtchyan GV, Veviorskiy A, Shneyderman A, Ozerov IV, Zhavoronkov A, Bakula D, Scheibye-Knudsen M. Worm C, et al. Aging (Albany NY). 2024 Feb 9;16(3):2026-2046. doi: 10.18632/aging.205537. Epub 2024 Feb 9. Aging (Albany NY). 2024. PMID: 38345566 Free PMC article.
Furthermore, this allowed us to investigate the correlation of progeroid syndromes and syndromes with various pathogenesis using hierarchical clustering algorithms and disease networks. We detected that ataxia-telangiectasia like disorder 2, spa …
Furthermore, this allowed us to investigate the correlation of progeroid syndromes and syndromes with various pathogenesis using hierarchica …
Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect.
Fiévet A, Bellanger D, Valence S, Mobuchon L, Afenjar A, Giuliano F, Dubois d'Enghien C, Parfait B, Pedespan JM, Auger N, Rieunier G, Collet A, Burglen L, Stoppa-Lyonnet D, Stern MH. Fiévet A, et al. Hum Mutat. 2019 Oct;40(10):1690-1699. doi: 10.1002/humu.23773. Epub 2019 May 15. Hum Mutat. 2019. PMID: 31033087
Ataxia-telangiectasia-like disorder (ATLD) is a rare genomic instability syndrome caused by biallelic variants of MRE11 (meiotic recombination 11) characterized by progressive cerebellar ataxia and typical karyotype abnormalities. ...
Ataxia-telangiectasia-like disorder (ATLD) is a rare genomic instability syndrome caused by biallelic variants o …
Ataxia with oculomotor apraxia.
Liu W, Narayanan V. Liu W, et al. Semin Pediatr Neurol. 2008 Dec;15(4):216-20. doi: 10.1016/j.spen.2008.10.014. Semin Pediatr Neurol. 2008. PMID: 19073331
Ataxia-telangiectasia (AT) belongs to a group of recessively inherited disorders characterized by progressive ataxia and oculomotor apraxia. Included in this group are AT, ataxia-telangiectasia-like disorder (ATLD), ataxia with oculomotor apraxia type …
Ataxia-telangiectasia (AT) belongs to a group of recessively inherited disorders characterized by progressive ataxia and oculomotor apraxia. …
Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues?
Yoshida T, Awaya T, Shibata M, Kato T, Numabe H, Kobayashi J, Komatsu K, Heike T. Yoshida T, et al. Am J Med Genet A. 2014 Jul;164A(7):1830-4. doi: 10.1002/ajmg.a.36546. Epub 2014 Apr 14. Am J Med Genet A. 2014. PMID: 24733832 Free article.
Ataxia-telangiectasia-like disorder (ATLD) is a rare autosomal recessive disorder, and has symptoms similar to ataxia-telangiectasia (AT). ...We report a female ATLD patient presenting with hypergonadotropic hypogonadism and hypersegmented neutrophils, …
Ataxia-telangiectasia-like disorder (ATLD) is a rare autosomal recessive disorder, and has symptoms similar to a …
Regulation of Mre11/Rad50 by Nbs1: effects on nucleotide-dependent DNA binding and association with ataxia-telangiectasia-like disorder mutant complexes.
Lee JH, Ghirlando R, Bhaskara V, Hoffmeyer MR, Gu J, Paull TT. Lee JH, et al. J Biol Chem. 2003 Nov 14;278(46):45171-81. doi: 10.1074/jbc.M308705200. Epub 2003 Sep 8. J Biol Chem. 2003. PMID: 12966088 Free article.
Mutations in the genes that encode Nbs1 and Mre11 are responsible for the human radiation sensitivity disorders Nijmegen breakage syndrome (NBS) and ataxia-telangiectasia-like disorder (ATLD), respectively, which are characterized by defective checkpoi …
Mutations in the genes that encode Nbs1 and Mre11 are responsible for the human radiation sensitivity disorders Nijmegen breakage syndrome ( …
Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder.
Fernet M, Gribaa M, Salih MA, Seidahmed MZ, Hall J, Koenig M. Fernet M, et al. Hum Mol Genet. 2005 Jan 15;14(2):307-18. doi: 10.1093/hmg/ddi027. Epub 2004 Dec 1. Hum Mol Genet. 2005. PMID: 15574463
Ten new patients with ataxia telangiectasia-like disorder (ATLD) from three unrelated Saudi Arabian families have been identified aged 5-37 representing the largest cohort of ATLD patients ever identified. ...
Ten new patients with ataxia telangiectasia-like disorder (ATLD) from three unrelated Saudi Arabian families hav …
Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma.
Uchisaka N, Takahashi N, Sato M, Kikuchi A, Mochizuki S, Imai K, Nonoyama S, Ohara O, Watanabe F, Mizutani S, Hanada R, Morio T. Uchisaka N, et al. J Pediatr. 2009 Sep;155(3):435-8. doi: 10.1016/j.jpeds.2009.02.037. J Pediatr. 2009. PMID: 19732584
We report on 2 brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. ...
We report on 2 brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. ...
A subgroup of spinocerebellar ataxias defective in DNA damage responses.
Gueven N, Chen P, Nakamura J, Becherel OJ, Kijas AW, Grattan-Smith P, Lavin MF. Gueven N, et al. Neuroscience. 2007 Apr 14;145(4):1418-25. doi: 10.1016/j.neuroscience.2006.12.010. Epub 2007 Jan 16. Neuroscience. 2007. PMID: 17224243
A subgroup of human autosomal recessive ataxias is also characterized by disturbances of eye movement or oculomotor apraxia. These include ataxia telangiectasia (A-T); ataxia telangiectasia like disorder (ATLD); ataxia oculomotor apraxia type 1 (AOA1) …
A subgroup of human autosomal recessive ataxias is also characterized by disturbances of eye movement or oculomotor apraxia. These include a …