Literature DB >> 11897824

Mosaicism for FMR1 and FMR2 deletion: a new case.

S Fengler, S Fuchs, R König, J Arnemann.   

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Year:  2002        PMID： 11897824      PMCID： PMC1735074          DOI： 10.1136/jmg.39.3.200

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


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  6 in total

1.  Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.

Authors:  Sandesh C S Nagamani; Ayelet Erez; Frank J Probst; Patricia Bader; Patricia Evans; Linda A Baker; Ping Fang; Terry Bertin; Patricia Hixson; Pawel Stankiewicz; David Nelson; Ankita Patel; Sau Wai Cheung
Journal:  Neurogenetics       Date:  2012-08-14       Impact factor: 2.660

Review 2.  Fragile X syndrome: the FMR1 CGG repeat distribution among world populations.

Authors:  Emmanuel Peprah
Journal:  Ann Hum Genet       Date:  2011-12-21       Impact factor: 1.670

3.  De Novo Large Deletion Leading to Fragile X Syndrome.

Authors:  Poonnada Jiraanont; Esther Manor; Nazi Tabatadze; Marwa Zafarullah; Guadalupe Mendoza; Gia Melikishvili; Flora Tassone
Journal:  Front Genet       Date:  2022-05-11       Impact factor: 4.772

Review 4.  Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature.

Authors:  Bradford Coffee; Morna Ikeda; Dejan B Budimirovic; Lawrence N Hjelm; Walter E Kaufmann; Stephen T Warren
Journal:  Am J Med Genet A       Date:  2008-05-15       Impact factor: 2.802

5.  Generation of Induced Pluripotent Stem Cells from a Female Patient with a Xq27.3-q28 Deletion to Establish Disease Models and Identify Therapies.

Authors:  Noriko Watanabe; Kohei Kitada; Katherine E Santostefano; Airi Yokoyama; Sara M Waldrop; Coy D Heldermon; Daisuke Tachibana; Masayasu Koyama; Amy M Meacham; Christina A Pacak; Naohiro Terada
Journal:  Cell Reprogram       Date:  2020-06-30       Impact factor: 1.987

6.  DNA repair/replication transcripts are down regulated in patients with Fragile X Syndrome.

Authors:  Huichun Xu; Mónica A Rosales-Reynoso; Patricio Barros-Núñez; Emmanuel Peprah
Journal:  BMC Res Notes       Date:  2013-03-11
  6 in total

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