Literature DB >> 12000367

A 4q21-q22 deletion in a girl with severe growth retardation.

N Harada, T Nagai, O Shimokawa, N Niikawa, N Matsumoto.   

Abstract

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Year:  2002        PMID： 12000367     DOI： 10.1034/j.1399-0004.2002.610311.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  4 in total

1.  Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.

Authors:  Lynn Dukes-Rimsky; Gregory F Guzauskas; Kenton R Holden; Rachel Griggs; Sydney Ladd; Maria del Carmen Montoya; Barbara R DuPont; Anand K Srivastava
Journal:  Am J Med Genet A       Date:  2011-08-10       Impact factor: 2.802

2.  Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report.

Authors:  Clara Franco-Jarava; Irene Valenzuela; Jacques G Riviere; Marina Garcia-Prat; Mónica Martínez-Gallo; Romina Dieli-Crimi; Neus Castells; Laura Batlle-Masó; Pere Soler-Palacin; Roger Colobran
Journal:  Front Immunol       Date:  2022-06-17       Impact factor: 8.786

3.  Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome.

Authors:  Katalin Komlósi; Balázs Duga; Kinga Hadzsiev; Márta Czakó; György Kosztolányi; András Fogarasi; Béla Melegh
Journal:  Mol Cytogenet       Date:  2015-03-03       Impact factor: 2.009

4.  Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.

Authors:  Magdalena Bartnik; Beata Nowakowska; Katarzyna Derwińska; Barbara Wiśniowiecka-Kowalnik; Marta Kędzior; Joanna Bernaciak; Kamila Ziemkiewicz; Tomasz Gambin; Maciej Sykulski; Natalia Bezniakow; Lech Korniszewski; Anna Kutkowska-Kaźmierczak; Jakub Klapecki; Krzysztof Szczałuba; Chad A Shaw; Tadeusz Mazurczak; Anna Gambin; Ewa Obersztyn; Ewa Bocian; Paweł Stankiewicz
Journal:  J Appl Genet       Date:  2013-12-03       Impact factor: 3.240
  4 in total

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