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Literature DB >> 7262865

Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency.

J P Fryns, M Azou, J Jaeken, E Eggermont, J C Pedersen, H Van den Berghe.

Abstract

Instability of the centromeric regions of chromosomes 1, 9, and 16 in cultured lymphocytes of an 8-month-old girl with malabsorption and combined immunodeficiency is reported. Together with the two previous reports on this condition, the present report seems to confirm the specific association of combined immunodeficiency and centromeric instability of chromosomes 1, 9, and 16 with multibranching.

Entities: Disease Species

Mesh：

Year: 1981 PMID： 7262865 DOI： 10.1007/BF00271181

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

5 in total

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Authors: F Hecht; B Kaiser-McCaw
Journal: Am J Hum Genet Date: 1979-03 Impact factor: 11.025

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Authors: G R Sutherland
Journal: Am J Hum Genet Date: 1979-03 Impact factor: 11.025

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Authors: M Morad; J Jonasson; J Lindsten
Journal: Hereditas Date: 1973 Impact factor: 3.271

4. Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency.

Authors: L Tiepolo; P Maraschio; G Gimelli; C Cuoco; G F Gargani; C Romano
Journal: Hum Genet Date: 1979-10-01 Impact factor: 4.132

5. Balanced transmission of centromeric fission products in man.

Authors: J P Fryns; J Bulcke; L Hens; H Van den Berghe
Journal: Hum Genet Date: 1980 Impact factor: 4.132

5 in total

13 in total

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

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Journal: Hum Genet Date: 1988-11 Impact factor: 4.132

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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

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

Review 6. Aspects of evaluation, significance, and evolution of human C-band heteromorphism.

Authors: B Erdtmann
Journal: Hum Genet Date: 1982 Impact factor: 4.132

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

8. Characterization of Dnmt3b:thymine-DNA glycosylase interaction and stimulation of thymine glycosylase-mediated repair by DNA methyltransferase(s) and RNA.

Authors: Michael J Boland; Judith K Christman
Journal: J Mol Biol Date: 2008-02-29 Impact factor: 5.469

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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

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Journal: Hum Genet Date: 1994-09 Impact factor: 4.132