Literature DB >> 2729362

Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies.

C Turleau1, M O Cabanis, D Girault, F Ledeist, R Mettey, H Puissant, M Prieur, J de Grouchy.   

Abstract

A new patient with the rare ICF syndrome (immunodeficiency, centromeric heterochromatin instability, and facial anomalies) is reported. The six patients previously reported in the literature are reviewed. The main clinical and cytogenetic characteristics of the syndrome are discussed.

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Year:  1989        PMID： 2729362     DOI： 10.1002/ajmg.1320320331

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  14 in total

1.  Mitotic disturbance associated with mosaic aneuploidies.

Authors:  K Miller; W Müller; L Winkler; M R Hadam; J H Ehrich; S D Flatz
Journal:  Hum Genet       Date:  1990-03       Impact factor: 4.132

Review 2.  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

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.  DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor.

Authors:  S Schuffenhauer; O Bartsch; M Stumm; T Buchholz; T Petropoulou; S Kraft; B Belohradsky; G K Hinkel; T Meitinger; R D Wegner
Journal:  Hum Genet       Date:  1995-11       Impact factor: 4.132

5.  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

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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