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Items: 1 to 20 of 300

1.

RNA sequencing reveals the consequences of a novel insertion in dedicator of cytokinesis-8.

Khan S, Kuruvilla M, Hagin D, Wakeland B, Liang C, Vishwanathan K, Gatti RA, Torgersen TR, Abraham RS, Wakeland EK, van Oers NS, de la Morena MT.

J Allergy Clin Immunol. 2016 Jul;138(1):289-292.e6. doi: 10.1016/j.jaci.2015.11.033. Epub 2016 Feb 13. No abstract available.

PMID:
26883462
2.

Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family.

Pathak A, Seipel K, Pemov A, Dewan R, Brown C, Ravichandran S, Luke BT, Malasky M, Suman S, Yeager M; NCI DCEG Cancer Genomics Research Laboratory.; NCI DCEG Cancer Sequencing Working Group., Gatti RA, Caporaso NE, Mulvihill JJ, Goldin LR, Pabst T, McMaster ML, Stewart DR.

Haematologica. 2016 Jul;101(7):846-52. doi: 10.3324/haematol.2015.130799. Epub 2015 Dec 31.

3.

Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.

Gómez-Grau M, Garrido E, Cozar M, Rodriguez-Sureda V, Domínguez C, Arenas C, Gatti RA, Cormand B, Grinberg D, Vilageliu L.

PLoS One. 2015 Aug 19;10(8):e0135873. doi: 10.1371/journal.pone.0135873. eCollection 2015 Aug 19.

4.

Ataxia-telangiectasia with female fertility.

Dawson AJ, Marles S, Tomiuk M, Riordan D, Gatti RA.

Am J Med Genet A. 2015 Aug;167A(8):1937-9. doi: 10.1002/ajmg.a.37084. Epub 2015 Apr 25. No abstract available.

PMID:
25914063
5.

Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).

Patel JP, Puck JM, Srinivasan R, Brown C, Sunderam U, Kundu K, Brenner SE, Gatti RA, Church JA.

J Clin Immunol. 2015 Feb;35(2):227-33. doi: 10.1007/s10875-015-0136-6. Epub 2015 Feb 13.

6.

Aberrant recombination and repair during immunoglobulin class switching in BRCA1-deficient human B cells.

Björkman A, Qvist P, Du L, Bartish M, Zaravinos A, Georgiou K, Børglum AD, Gatti RA, Törngren T, Pan-Hammarström Q.

Proc Natl Acad Sci U S A. 2015 Feb 17;112(7):2157-62. doi: 10.1073/pnas.1418947112. Epub 2015 Feb 2.

7.

A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity.

Nakamura K, Fike F, Haghayegh S, Saunders-Pullman R, Dawson AJ, Dörk T, Gatti RA.

Mol Genet Genomic Med. 2014 Jul;2(4):332-40. doi: 10.1002/mgg3.72. Epub 2014 Mar 13.

8.

Mass spectrometry-based tissue imaging of small molecules.

Ferguson CN, Fowler JW, Waxer JF, Gatti RA, Loo JA.

Adv Exp Med Biol. 2014;806:283-99. doi: 10.1007/978-3-319-06068-2_12. Review.

9.

Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.

Stewart DR, Pemov A, Johnston JJ, Sapp JC, Yeager M, He J, Boland JF, Burdett L, Brown C, Gatti RA, Alter BP, Biesecker LG, Savage SA.

PLoS One. 2014 Jun 3;9(6):e98686. doi: 10.1371/journal.pone.0098686. eCollection 2014 Jun 3.

10.

Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.

Fogel BL, Cho E, Wahnich A, Gao F, Becherel OJ, Wang X, Fike F, Chen L, Criscuolo C, De Michele G, Filla A, Collins A, Hahn AF, Gatti RA, Konopka G, Perlman S, Lavin MF, Geschwind DH, Coppola G.

Hum Mol Genet. 2014 Sep 15;23(18):4758-69. doi: 10.1093/hmg/ddu190. Epub 2014 Apr 23.

11.

Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks.

Martin NT, Nakamura K, Paila U, Woo J, Brown C, Wright JA, Teraoka SN, Haghayegh S, McCurdy D, Schneider M, Hu H, Quinlan AR, Gatti RA, Concannon P.

Cell Death Dis. 2014 Mar 20;5:e1130. doi: 10.1038/cddis.2014.99.

12.

Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.

Kuschal C, DiGiovanna JJ, Khan SG, Gatti RA, Kraemer KH.

Proc Natl Acad Sci U S A. 2013 Nov 26;110(48):19483-8. doi: 10.1073/pnas.1312088110. Epub 2013 Nov 11.

13.

Extreme growth failure is a common presentation of ligase IV deficiency.

Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, Doonanco K, Adès L, Ma A, Field M, Johnson D, Shackley F, Firth H, Woods CG, Nürnberg P, Gatti RA, Hurles M, Bober MB, Wollnik B, Jackson AP.

Hum Mutat. 2014 Jan;35(1):76-85. doi: 10.1002/humu.22461. Epub 2013 Nov 8.

14.

A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.

Du L, Jung ME, Damoiseaux R, Completo G, Fike F, Ku JM, Nahas S, Piao C, Hu H, Gatti RA.

Mol Ther. 2013 Sep;21(9):1653-60. doi: 10.1038/mt.2013.150. Epub 2013 Jun 18.

15.

ATM-dependent MiR-335 targets CtIP and modulates the DNA damage response.

Martin NT, Nakamura K, Davies R, Nahas SA, Brown C, Tunuguntla R, Gatti RA, Hu H.

PLoS Genet. 2013 May;9(5):e1003505. doi: 10.1371/journal.pgen.1003505. Epub 2013 May 16.

16.

SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs.

Lee P, Martin NT, Nakamura K, Azghadi S, Amiri M, Ben-David U, Perlman S, Gatti RA, Hu H, Lowry WE.

Nat Commun. 2013;4:1824. doi: 10.1038/ncomms2824.

PMID:
23652012
17.

Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions.

Ambrose M, Gatti RA.

Blood. 2013 May 16;121(20):4036-45. doi: 10.1182/blood-2012-09-456897. Epub 2013 Feb 25. Review.

18.

Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).

Cavalieri S, Pozzi E, Gatti RA, Brusco A.

Eur J Hum Genet. 2013 Jul;21(7):774-8. doi: 10.1038/ejhg.2012.266. Epub 2012 Dec 5.

19.

Aberrant overexpression of miR-421 downregulates ATM and leads to a pronounced DSB repair defect and clinical hypersensitivity in SKX squamous cell carcinoma.

Mansour WY, Bogdanova NV, Kasten-Pisula U, Rieckmann T, Köcher S, Borgmann K, Baumann M, Krause M, Petersen C, Hu H, Gatti RA, Dikomey E, Dörk T, Dahm-Daphi J.

Radiother Oncol. 2013 Jan;106(1):147-54. doi: 10.1016/j.radonc.2012.10.020. Epub 2012 Nov 28.

PMID:
23199656
20.

Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.

Mancini C, Vaula G, Scalzitti L, Cavalieri S, Bertini E, Aiello C, Lucchini C, Gatti RA, Brussino A, Brusco A.

Neurogenetics. 2012 Aug;13(3):205-14. doi: 10.1007/s10048-012-0331-z. Epub 2012 May 3.

PMID:
22552818

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