215 related articles for article (PubMed ID: 18083591)
1. Ophthalmic features of ataxia telangiectasia-like disorder.
Khan AO; Oystreck DT; Koenig M; Salih MA
J AAPOS; 2008 Apr; 12(2):186-9. PubMed ID: 18083591
[TBL] [Abstract][Full Text] [Related]
2. 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
Hum Mol Genet; 2005 Jan; 14(2):307-18. PubMed ID: 15574463
[TBL] [Abstract][Full Text] [Related]
3. 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
Am J Med Genet A; 2014 Jul; 164A(7):1830-4. PubMed ID: 24733832
[TBL] [Abstract][Full Text] [Related]
4. Differential DNA damage signaling accounts for distinct neural apoptotic responses in ATLD and NBS.
Shull ER; Lee Y; Nakane H; Stracker TH; Zhao J; Russell HR; Petrini JH; McKinnon PJ
Genes Dev; 2009 Jan; 23(2):171-80. PubMed ID: 19171781
[TBL] [Abstract][Full Text] [Related]
5. Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis.
Taylor AM; Groom A; Byrd PJ
DNA Repair (Amst); 2004; 3(8-9):1219-25. PubMed ID: 15279810
[TBL] [Abstract][Full Text] [Related]
6. MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.
Delia D; Piane M; Buscemi G; Savio C; Palmeri S; Lulli P; Carlessi L; Fontanella E; Chessa L
Hum Mol Genet; 2004 Sep; 13(18):2155-63. PubMed ID: 15269180
[TBL] [Abstract][Full Text] [Related]
7. Assessment of carriers' frequency of a novel MRE11 mutation responsible for the rare ataxia telangiectasia-like disorder.
Alsbeih G; Al-Hadyan K; Al-Harbi N
Genet Test; 2008 Sep; 12(3):387-9. PubMed ID: 18652530
[TBL] [Abstract][Full Text] [Related]
8. 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
Hum Mutat; 2019 Oct; 40(10):1690-1699. PubMed ID: 31033087
[TBL] [Abstract][Full Text] [Related]
9. Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia.
Jiang H; Tang B; Xia K; Hu Z; Shen L; Tang J; Zhao G; Zhang Y; Cai F; Pan Q; Long Z; Wang G; Dai H
J Neurol Sci; 2006 Feb; 241(1-2):1-6. PubMed ID: 16380133
[TBL] [Abstract][Full Text] [Related]
10. Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.
Matsumoto Y; Miyamoto T; Sakamoto H; Izumi H; Nakazawa Y; Ogi T; Tahara H; Oku S; Hiramoto A; Shiiki T; Fujisawa Y; Ohashi H; Sakemi Y; Matsuura S
DNA Repair (Amst); 2011 Mar; 10(3):314-21. PubMed ID: 21227757
[TBL] [Abstract][Full Text] [Related]
11. An essential function for NBS1 in the prevention of ataxia and cerebellar defects.
Frappart PO; Tong WM; Demuth I; Radovanovic I; Herceg Z; Aguzzi A; Digweed M; Wang ZQ
Nat Med; 2005 May; 11(5):538-44. PubMed ID: 15821748
[TBL] [Abstract][Full Text] [Related]
12. Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.
Bohlega SA; Shinwari JM; Al Sharif LJ; Khalil DS; Alkhairallah TS; Al Tassan NA
BMC Med Genet; 2011 Feb; 12():27. PubMed ID: 21324166
[TBL] [Abstract][Full Text] [Related]
13. Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms.
Regal JA; Festerling TA; Buis JM; Ferguson DO
Hum Mol Genet; 2013 Dec; 22(25):5146-59. PubMed ID: 23912341
[TBL] [Abstract][Full Text] [Related]
14. Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34.
Németh AH; Bochukova E; Dunne E; Huson SM; Elston J; Hannan MA; Jackson M; Chapman CJ; Taylor AM
Am J Hum Genet; 2000 Nov; 67(5):1320-6. PubMed ID: 11022012
[TBL] [Abstract][Full Text] [Related]
15. Ataxia telangiectasia: a reappraisal of the ocular motor features and their value in the diagnosis of atypical cases.
Stell R; Bronstein AM; Plant GT; Harding AE
Mov Disord; 1989; 4(4):320-9. PubMed ID: 2811891
[TBL] [Abstract][Full Text] [Related]
16. [Syndrome of premature ageing in ataxia-telangiectasia patients].
Polubot'ko EA; Smirnova NV; Pleskach NM; Mikhel'son VM; Spivak IM
Tsitologiia; 2009; 51(8):712-8. PubMed ID: 19799357
[TBL] [Abstract][Full Text] [Related]
17. Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype.
Alterman N; Fattal-Valevski A; Moyal L; Crawford TO; Lederman HM; Ziv Y; Shiloh Y
Am J Med Genet A; 2007 Aug; 143A(16):1827-34. PubMed ID: 17632790
[TBL] [Abstract][Full Text] [Related]
18. ATM and the Mre11 complex combine to recognize and signal DNA double-strand breaks.
Lavin MF
Oncogene; 2007 Dec; 26(56):7749-58. PubMed ID: 18066087
[TBL] [Abstract][Full Text] [Related]
19. Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia.
Miyamoto R; Morino H; Yoshizawa A; Miyazaki Y; Maruyama H; Murakami N; Fukada K; Izumi Y; Matsuura S; Kaji R; Kawakami H
J Neurol Sci; 2014 Feb; 337(1-2):219-23. PubMed ID: 24332946
[TBL] [Abstract][Full Text] [Related]
20. Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia.
Landouré G; Mochel F; Meilleur K; Ly M; Sangaré M; Bocoum N; Bagayoko K; Coulibaly T; Sarr AM; Bâ HO; Coulibaly S; Guinto CO; Touré M; Traoré M; Fischbeck KH
J Neurol; 2013 Jan; 260(1):324-6. PubMed ID: 23142947
[No Abstract] [Full Text] [Related]
[Next] [New Search]