Literature DB >> 4006276

Centromeric instability of chromosomes 1 and 16 with variable immune deficiency: a new syndrome.

P J Howard, I J Lewis, F Harris, S Walker.   

Abstract

We describe an extended study of a boy with combined immunodeficiency and centromeric fragility of chromosomes 1 and 16. This case, together with three previously reported cases with similar clinical, immunological and chromosomal features, appears to confirm a specific syndrome of immune deficiency associated with centromeric fragility of chromosomes 1, 9 and 16.

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Year:  1985        PMID： 4006276     DOI： 10.1111/j.1399-0004.1985.tb00239.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  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

3.  Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome.

Authors:  P Maraschio; O Zuffardi; T Dalla Fior; L Tiepolo
Journal:  J Med Genet       Date:  1988-03       Impact factor: 6.318

4.  Non-random chromosomal aberrations in a complex leukaemic clone of a Bloom's syndrome patient.

Authors:  F Shabtai; U H Lewinski; A Meroz; D Klar; M Djaldetti; I Halbrecht
Journal:  Hum Genet       Date:  1988-11       Impact factor: 4.132

Review 5.  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

6.  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

7.  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

Review 8.  The role of genetics in the establishment and maintenance of the epigenome.

Authors:  Covadonga Huidobro; Agustin F Fernandez; Mario F Fraga
Journal:  Cell Mol Life Sci       Date:  2013-03-10       Impact factor: 9.261

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

10.  Differential expression of the ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts.

Authors:  P Maraschio; R Tupler; E Dainotti; M Piantanida; G Cazzola; L Tiepolo
Journal:  J Med Genet       Date:  1989-07       Impact factor: 6.318
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