Literature DB >> 3361388

Variable immunodeficiency with abnormal condensation of the heterochromatin of chromosomes 1, 9, and 16.

N J Carpenter1, A Filipovich, R M Blaese, T L Carey, A I Berkel.   

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Year:  1988        PMID： 3361388     DOI： 10.1016/s0022-3476(88)80698-x

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


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  14 in total

Review 1.  Centromeric heterochromatin instability of chromosomes 1, 9, and 16 in variable immunodeficiency syndrome--a virus-induced phenomenon?

Authors:  O A Haas
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132

2.  The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.

Authors:  R S Hansen; C Wijmenga; P Luo; A M Stanek; T K Canfield; C M Weemaes; S M Gartler
Journal:  Proc Natl Acad Sci U S A       Date:  1999-12-07       Impact factor: 11.205

Review 3.  ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome.

Authors:  D C Brown; E Grace; A T Sumner; A T Edmunds; P M Ellis
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

4.  ICF syndrome with variable expression in sibs.

Authors:  G Gimelli; P Varone; A Pezzolo; M Lerone; V Pistoia
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

5.  Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

Authors:  Marlinde L van den Boogaard; Richard J L F Lemmers; Judit Balog; Mariëlle Wohlgemuth; Mari Auranen; Satomi Mitsuhashi; Patrick J van der Vliet; Kirsten R Straasheijm; Rob F P van den Akker; Marjolein Kriek; Marlies E Y Laurense-Bik; Vered Raz; Monique M van Ostaijen-Ten Dam; Kerstin B M Hansson; Elly L van der Kooi; Sari Kiuru-Enari; Bjarne Udd; Maarten J D van Tol; Ichizo Nishino; Rabi Tawil; Stephen J Tapscott; Baziel G M van Engelen; Silvère M van der Maarel
Journal:  Am J Hum Genet       Date:  2016-05-05       Impact factor: 11.025

6.  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

7.  Interphase chromosomal abnormalities and mitotic missegregation of hypomethylated sequences in ICF syndrome cells.

Authors:  David Gisselsson; Chunbo Shao; Cathy M Tuck-Muller; Suzana Sogorovic; Eva Pålsson; Dominique Smeets; Melanie Ehrlich
Journal:  Chromosoma       Date:  2005-04-27       Impact factor: 4.316

8.  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

Review 9.  Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Report of two new patients and review of the literature.

Authors:  P Franceschini; S Martino; M Ciocchini; E Ciuti; M P Vardeu; A Guala; F Signorile; P Camerano; D Franceschini; P A Tovo
Journal:  Eur J Pediatr       Date:  1995-10       Impact factor: 3.183

Review 10.  ICF syndrome: a new case and review of the literature.

Authors:  D F Smeets; U Moog; C M Weemaes; G Vaes-Peeters; G F Merkx; J P Niehof; G Hamers
Journal:  Hum Genet       Date:  1994-09       Impact factor: 4.132
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