Literature DB >> 11562629

Fluorescence in situ hybridization analysis of peripheral blood cells in Pearson marrow-pancreas syndrome.

I Yanagihara1, K Inui, K Yanagihara, Y D Park, J Tanaka, K Ozono, S Okada, H Kurahashi.   

Abstract

We used a dual-color fluorescence in situ hybridization technique to estimate deleted mitochondrial DNA at a single-cell level and determine any correlation with the disease progression in lymphocytes from patients with Pearson marrow-pancreas syndrome. The method demonstrated a shift in heteroplasmy, paralleling the hematologic improvement.

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Year:  2001        PMID: 11562629     DOI: 10.1067/mpd.2001.116296

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  2 in total

1.  Combined immunodeficiency in a patient with mosaic monosomy 21.

Authors:  Erez Rechavi; Sarina Levy-Mendelovich; Tali Stauber; Jana Shamash; Shlomit Reinstein; Helly Vernitsky; Dganit Adam; Amos J Simon; Atar Lev; Annick Raas-Rothschild; Raz Somech
Journal:  Immunol Res       Date:  2016-08       Impact factor: 2.829

Review 2.  Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.

Authors:  Ayami Yoshimi; Kaori Ishikawa; Charlotte Niemeyer; Sarah C Grünert
Journal:  Orphanet J Rare Dis       Date:  2022-10-17       Impact factor: 4.303

  2 in total

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