Literature DB >> 14263770

CHROMOSOMAL BREAKAGE IN A RARE AND PROBABLY GENETICALLY DETERMINED SYNDROME OF MAN.

J GERMAN, R ARCHIBALD, D BLOOM.   

Abstract

A high frequency of chromosomal breakage and rearrangement has been found in cultured blood cells from six of seven individuals with a rare syndrome characterized by congenital telangiectatic erythema and stunted growth. Only 19 instances of this apparently genetically determined disorder are known, and malignant neoplasia has developed in three.

Entities:  

Keywords:  ABNORMALITIES; CHILD; CHROMOSOME ABNORMALITIES; DWARFISM; ERYTHEMA; GENETICS, HUMAN; HISTOLOGY; NEOPLASM ETIOLOGY; NEOPLASMS

Mesh：

Year:  1965        PMID： 14263770     DOI： 10.1126/science.148.3669.506

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  74 in total

1.  [Chromosomal instability in homo- and heterocygocity for microcephalia vera )author's transl)].

Authors:  W Vormittag; E Kunze-Mühl; M Weninger
Journal:  Humangenetik       Date:  1975

2.  The rate of sister chromatid exchanges parallel to spontaneous chromosome breakage in Fanconi's anemia and to trenimon-induced aberrations in human lymphocytes and fibroblasts.

Authors:  K Hayashi; W Schmid
Journal:  Humangenetik       Date:  1975-09-23

3.  Constitutional hyperrecombinability and its consequences.

Authors:  James German
Journal:  Genetics       Date:  2004-09       Impact factor: 4.562

4.  Cytogenetic studies in 12 patients with itai-itai disease.

Authors:  Y Shiraishi
Journal:  Humangenetik       Date:  1975

5.  Genetic Manipulation of Homologous Recombination In Vivo Attenuates Intestinal Tumorigenesis.

Authors:  Michael A McIlhatton; Kevin Murnan; Daniel Carson; Gregory P Boivin; Carlo M Croce; Joanna Groden
Journal:  Cancer Prev Res (Phila)       Date:  2015-04-23

Review 6.  The RecQ DNA helicases in DNA repair.

Authors:  Kara A Bernstein; Serge Gangloff; Rodney Rothstein
Journal:  Annu Rev Genet       Date:  2010       Impact factor: 16.830

7.  Chromosome breakage is regulated by the interaction of the BLM helicase and topoisomerase IIalpha.

Authors:  Beatriz Russell; Saumitri Bhattacharyya; Jeremy Keirsey; April Sandy; Patrick Grierson; Erin Perchiniak; Juraj Kavecansky; Samir Acharya; Joanna Groden
Journal:  Cancer Res       Date:  2011-01-11       Impact factor: 12.701

8.  Recombine and Associate to Prevent Genomic Instability and Premature Aging.

Authors:  Martin Poot
Journal:  Mol Syndromol       Date:  2016-11-17

9.  Replication bypass model of sister chromatid exchanges and implications for Bloom's syndrome and Fanconi's anemia.

Authors:  D A Shafer
Journal:  Hum Genet       Date:  1977-11-10       Impact factor: 4.132

10.  Presence of abnormally high incidences of sister chromatid exchanges in three successive cell cycles in Bloom's syndrome lymphocytes.

Authors:  H Tsuji; T Kojima
Journal:  Chromosoma       Date:  1985       Impact factor: 4.316
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