Literature DB >> 11288710

A novel mutation and novel features in Nijmegen breakage syndrome.

P Maraschio, C Danesino, A Antoccia, R Ricordy, C Tanzarella, R Varon, A Reis, D Besana, A Guala, L Tiepolo.   

Abstract

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Year:  2001        PMID： 11288710      PMCID： PMC1734798          DOI： 10.1136/jmg.38.2.113

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  6 in total

Review 1.  DNA damage in the oligodendrocyte lineage and its role in brain aging.

Authors:  Kai-Hei Tse; Karl Herrup
Journal:  Mech Ageing Dev       Date:  2016-05-26       Impact factor: 5.432

2.  G2-phase radiation response in lymphoblastoid cell lines from Nijmegen breakage syndrome.

Authors:  A Antoccia; A di Masi; P Maraschio; M Stumm; R Ricordy; C Tanzarella
Journal:  Cell Prolif       Date:  2002-04       Impact factor: 6.831

Review 3.  Nijmegen breakage syndrome (NBS).

Authors:  Krystyna H Chrzanowska; Hanna Gregorek; Bożenna Dembowska-Bagińska; Maria A Kalina; Martin Digweed
Journal:  Orphanet J Rare Dis       Date:  2012-02-28       Impact factor: 4.123

4.  PedGenie: an analysis approach for genetic association testing in extended pedigrees and genealogies of arbitrary size.

Authors:  Kristina Allen-Brady; Jathine Wong; Nicola J Camp
Journal:  BMC Bioinformatics       Date:  2006-04-18       Impact factor: 3.169

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

Authors:  Jay P Patel; Jennifer M Puck; Rajgopal Srinivasan; Christina Brown; Uma Sunderam; Kunal Kundu; Steven E Brenner; Richard A Gatti; Joseph A Church
Journal:  J Clin Immunol       Date:  2015-02-13       Impact factor: 8.317

6.  NBN Gene Polymorphisms and Cancer Susceptibility: A Systemic Review.

Authors:  Francesco Berardinelli; Alessandra di Masi; Antonio Antoccia
Journal:  Curr Genomics       Date:  2013-11       Impact factor: 2.236
  6 in total

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