Literature DB >> 11134242

Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain.

K H Chrzanowska, M Stumm, M Bekiesiska-Figatowska, R Varon, M Biaecka, H Gregorek, J Michakiewicz, M Krajewska-Walasek, S Jówiak, A Reis.   

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Year:  2001        PMID： 11134242      PMCID： PMC1734725          DOI： 10.1136/jmg.38.1.e3

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


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  7 in total

1.  Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition.

Authors:  Krzysztof Szczałuba; Hanna Mierzewska; Ewa Obersztyn; Jolanta Tryfon; Monika Bekiesińska-Figatowska; Elzbieta Szczepanik; Krystyna Chrzanowska; Ewa Bocian
Journal:  J Appl Genet       Date:  2012-05       Impact factor: 3.240

2.  Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability.

Authors:  E Seemanová; K Sperling; H Neitzel; R Varon; J Hadac; O Butova; E Schröck; P Seeman; M Digweed
Journal:  J Med Genet       Date:  2005-07-20       Impact factor: 6.318

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.  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

Review 5.  Update on DNA-Double Strand Break Repair Defects in Combined Primary Immunodeficiency.

Authors:  Mary A Slatter; Andrew R Gennery
Journal:  Curr Allergy Asthma Rep       Date:  2020-07-09       Impact factor: 4.806

6.  Impaired p53-Mediated DNA Damage Response Contributes to Microcephaly in Nijmegen Breakage Syndrome Patient-Derived Cerebral Organoids.

Authors:  Soraia Martins; Lars Erichsen; Angeliki Datsi; Wasco Wruck; Wolfgang Goering; Eleftheria Chatzantonaki; Vanessa Cristina Meira de Amorim; Andrea Rossi; Krystyna H Chrzanowska; James Adjaye
Journal:  Cells       Date:  2022-02-25       Impact factor: 6.600

Review 7.  Diabetes, Oxidative Stress, and DNA Damage Modulate Cranial Neural Crest Cell Development and the Phenotype Variability of Craniofacial Disorders.

Authors:  Sharien Fitriasari; Paul A Trainor
Journal:  Front Cell Dev Biol       Date:  2021-05-20
  7 in total

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