Literature DB >> 17705213

Early prenatal diagnosis of ICF syndrome by mutation detection.

Muriel Rigolet1, Annie Grégoire, Geneviève Lefort, Patricia Blanchet, Christine Courbes, Michel Rodière, Pierre Sarda, Evani Viegas-Péquignot.   

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Year:  2007        PMID： 17705213     DOI： 10.1002/pd.1826

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


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  5 in total

1.  Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.

Authors:  Delphine Sterlin; Guillaume Velasco; Despina Moshous; Fabien Touzot; Nizar Mahlaoui; Alain Fischer; Felipe Suarez; Claire Francastel; Capucine Picard
Journal:  J Clin Immunol       Date:  2016-02-06       Impact factor: 8.317

2.  Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

Authors:  Corry M R Weemaes; Maarten J D van Tol; Jun Wang; Monique M van Ostaijen-ten Dam; Marja C J A van Eggermond; Peter E Thijssen; Caner Aytekin; Nicola Brunetti-Pierri; Mirjam van der Burg; E Graham Davies; Alina Ferster; Dieter Furthner; Giorgio Gimelli; Andy Gennery; Barbara Kloeckener-Gruissem; Stephan Meyn; Cynthia Powell; Ismail Reisli; Catharina Schuetz; Ansgar Schulz; Andrea Shugar; Peter J van den Elsen; Silvère M van der Maarel
Journal:  Eur J Hum Genet       Date:  2013-03-13       Impact factor: 4.246

3.  Mutation detection and prenatal diagnosis of XLHED pedigree.

Authors:  Yao Lin; Wei Yin; Zhuan Bian
Journal:  PeerJ       Date:  2017-08-28       Impact factor: 2.984

4.  Characterization and rescue of telomeric abnormalities in ICF syndrome type I fibroblasts.

Authors:  Shiran Yehezkel; Rony Shaked; Shira Sagie; Ron Berkovitz; Hofit Shachar-Bener; Yardena Segev; Sara Selig
Journal:  Front Oncol       Date:  2013-02-28       Impact factor: 6.244

5.  Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.

Authors:  Guillaume Velasco; Emma L Walton; Delphine Sterlin; Sabrine Hédouin; Hirohisa Nitta; Yuya Ito; Fanny Fouyssac; André Mégarbané; Hiroyuki Sasaki; Capucine Picard; Claire Francastel
Journal:  Orphanet J Rare Dis       Date:  2014-04-17       Impact factor: 4.123
  5 in total

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