Literature DB >> 20358622

Transverse limb defect in a patient with Jacobsen syndrome: concurrence of malformation and disruption.

Hideki Fujita, Tadahiro Yanagi, Rika Kosaki, Chiharu Torii, Masahiro Bamba, Takao Takahashi, Kenjiro Kosaki.   

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Year:  2010        PMID： 20358622     DOI： 10.1002/ajmg.a.33151

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  3 in total

1.  First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25).

Authors:  Sinem Yalcintepe; Drenushe Zhuri; Hazal Sezginer Guler; Engin Atli; Selma Demir; Emine Ikbal Atli; Cisem Mail; Hakan Gurkan
Journal:  Mol Syndromol       Date:  2022-02-01

2.  Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization.

Authors:  Raquel Rodríguez-López; Fátima Gimeno-Ferrer; Elena Montesinos; Irene Ferrer-Bolufer; Carola Guzmán Luján; David Albuquerque; Carolina Monzó Cataluña; Virginia Ballesteros; Monserrat Aleu Pérez-Gramunt
Journal:  Genes (Basel)       Date:  2021-07-31       Impact factor: 4.096

3.  11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report.

Authors:  Yuko Ichimiya; Yuka Wada; Shinji Kunishima; Keiko Tsukamoto; Rika Kosaki; Haruhiko Sago; Akira Ishiguro; Yushi Ito
Journal:  J Med Case Rep       Date:  2018-01-08
  3 in total

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