Richard A Gatti


Ontology type: schema:Person     


Person Info

NAME

Richard A

SURNAME

Gatti

Publications in SciGraph latest 50 shown

  • 2017-03 Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks in CELL DEATH & DISEASE
  • 2017 Assaying Radiosensitivity of Ataxia-Telangiectasia in ATM KINASE
  • 2015-02 Nijmegen Breakage Syndrome Detected by Newborn Screening for T Cell Receptor Excision Circles (TRECs) in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2014-12 DNA repair in lupus in ARTHRITIS RESEARCH & THERAPY
  • 2014 Mass Spectrometry-Based Tissue Imaging of Small Molecules in ADVANCEMENTS OF MASS SPECTROMETRY IN BIOMEDICAL RESEARCH
  • 2013-12 SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs in NATURE COMMUNICATIONS
  • 2013-07 Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO) in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012-08 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 in NEUROGENETICS
  • 2011-09 Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia in CELL DEATH & DIFFERENTIATION
  • 2009-11 Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan in INTERNATIONAL JOURNAL OF HEMATOLOGY
  • 2007-07 Immunodeficiency, radiosensitivity, and the XCIND syndrome in IMMUNOLOGIC RESEARCH
  • 2005-07 ATM haplotypes and associated mutations in Iranian patients with ataxia–telangiectasia: recurring homozygosity without a founder haplotype in HUMAN GENETICS
  • 2005-06 Gene expression studies in radiation-sensitive cell lines in BREAST CANCER RESEARCH
  • 2004-06 Study design: Evaluating gene–environment interactions in the etiology of breast cancer – the WECARE study in BREAST CANCER RESEARCH
  • 2004 Diagnosis of Ataxia-Telangiectasia in CANCER DIAGNOSTICS
  • 2003-10 ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer in BRITISH JOURNAL OF CANCER
  • 2001-02 The pathogenesis of ataxia-telangiectasia in CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
  • 2001 Ataxia-Telangiectasia in PROGRESS IN BASIC AND CLINICAL IMMUNOLOGY
  • 2000-05 ATM-dependent phosphorylation of nibrin in response to radiation exposure in NATURE GENETICS
  • 2000-05 Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products in NATURE
  • 1999-08 Absence of mutations in the ATM gene in forty-seven cases of sporadic breast cancer in BRITISH JOURNAL OF CANCER
  • 1998-09 Congenital olivopontocerebellar atrophy: report of two siblings with paleo- and neocerebellar atrophy in ACTA NEUROPATHOLOGICA
  • 1998-08-12 Cellular Responses to DNA Damage and Human Chromosome Instability Syndromes in DNA DAMAGE AND REPAIR
  • 1998-05 Identical mutation in 55% of the ATM alleles in 11 Norwegian AT families: evidence for a founder effect in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 1998 Cellular Responses to DNA Damage and Human Chromosome Instability Syndromes in DNA DAMAGE AND REPAIR
  • 1997-04 Genetic testing for ataxia-telangiectasia. • 634 in PEDIATRIC RESEARCH
  • 1997-04 Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms in ONCOGENE
  • 1997-02 CAND3: A ubiquitously expressed gene immediately adjacent and in opposite transcriptional orientation to the ATM gene at 1lq23.1 in MAMMALIAN GENOME
  • 1996-07 Assignment of the mouse ataxia-telangiectasia gene (Atm) to mouse Chromosome 9 in MAMMALIAN GENOME
  • 1995-01 New localization of NCAM, proximal to DRD2 at Chromosome 11q23 in MAMMALIAN GENOME
  • 1993 How Many Ataxia-Telangiectasia Genes? in ATAXIA-TELANGIECTASIA
  • 1992-06 Loss of heterozygosity on chromosome 11 in sporadic gastrinomas in HUMAN GENETICS
  • 1992-03 Ataxia-telangiectasia: Linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome in HUMAN GENETICS
  • 1989-11 Tissue specificity of chromosomal rearrangements in ataxia-telangiectasia in HUMAN GENETICS
  • 1989-09 Heterogeneity of chromosomal breakage levels in epithelial tissue of ataxia-telangiectasia homozygotes and heterozygotes in HUMAN GENETICS
  • 1988-12 Localization of an ataxia-telangiectasia gene to chromosome 11q22–23 in NATURE
  • 1983 Accelerated Aging in Down’s Syndrome: The Concept of Hierarchical Homeostasis in Relation to Local and Global Failure in IMMUNOREGULATION
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