Literature DB >> 22293976

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

Krzysztof Szczałuba1, Hanna Mierzewska, Ewa Obersztyn, Jolanta Tryfon, Monika Bekiesińska-Figatowska, Elzbieta Szczepanik, Krystyna Chrzanowska, Ewa Bocian.   

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Year:  2012        PMID： 22293976     DOI： 10.1007/s13353-012-0084-2

Source DB:  PubMed          Journal:  J Appl Genet        ISSN： 1234-1983            Impact factor:   3.240


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  13 in total

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

Authors:  K H Chrzanowska; M Stumm; M Bekiesiska-Figatowska; R Varon; M Biaecka; H Gregorek; J Michakiewicz; M Krajewska-Walasek; S Jówiak; A Reis
Journal:  J Med Genet       Date:  2001-01       Impact factor: 6.318

2.  Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome.

Authors:  K H Chrzanowska; M Bekiesinska-Figatowska; S Józwiak
Journal:  J Med Genet       Date:  2002-05       Impact factor: 6.318

3.  Further delineation of the Nijmegen breakage syndrome.

Authors:  R D Taalman; T W Hustinx; C M Weemaes; E Seemanová; A Schmidt; E Passarge; J M Scheres
Journal:  Am J Med Genet       Date:  1989-03

Review 4.  Nijmegen breakage syndrome.

Authors:  I van der Burgt; K H Chrzanowska; D Smeets; C Weemaes
Journal:  J Med Genet       Date:  1996-02       Impact factor: 6.318

5.  Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.

Authors:  R Varon; C Vissinga; M Platzer; K M Cerosaletti; K H Chrzanowska; K Saar; G Beckmann; E Seemanová; P R Cooper; N J Nowak; M Stumm; C M Weemaes; R A Gatti; R K Wilson; M Digweed; A Rosenthal; K Sperling; P Concannon; A Reis
Journal:  Cell       Date:  1998-05-01       Impact factor: 41.582

6.  Cranial MRI in the Nijmegen breakage syndrome.

Authors:  M Bekiesińska-Figatowska; K H Chrzanowska; J Sikorska; J Walecki; M Krajewska-Walasek; S Jóźwiak; W J Kleijer
Journal:  Neuroradiology       Date:  2000-01       Impact factor: 2.804

7.  Schizencephaly: heterogeneous etiologies in a population of 4 million California births.

Authors:  Cynthia J Curry; Edward J Lammer; Verne Nelson; Gary M Shaw
Journal:  Am J Med Genet A       Date:  2005-08-30       Impact factor: 2.802

8.  Unusual T cell clones in a patient with Nijmegen breakage syndrome.

Authors:  D Stoppa-Lyonnet; D Girault; F LeDeist; A Aurias
Journal:  J Med Genet       Date:  1992-02       Impact factor: 6.318

9.  Magnetic resonance imaging of brain abnormalities in patients with the Nijmegen breakage syndrome.

Authors:  Monika Bekiesińska-Figatowska; Krystyna H Chrzanowska; Elzbieta Jurkiewicz; Anna Wakulińska; Henryk Rysiewskis; Małgorzata Gładkowska-Dura; Jerzy Walecki
Journal:  Acta Neurobiol Exp (Wars)       Date:  2004       Impact factor: 1.579

Review 10.  Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome.

Authors:  K H Chrzanowska; W J Kleijer; M Krajewska-Walasek; M Białecka; A Gutkowska; B Goryluk-Kozakiewicz; J Michałkiewicz; J Stachowski; H Gregorek; G Lysón-Wojciechowska
Journal:  Am J Med Genet       Date:  1995-07-03
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