M Amor-Guéret, C Dubois-d'Enghien, A Laugé… - Genetic …, 2008 - liebertpub.com
Bloom's syndrome (BS) is a rare autosomal recessive disease predisposing patients to all types of cancers affecting the general population. BS cells display a high level of genetic …
M Adams, M Jenney, L Lazarou, R White… - Journal of genetic …, 2013 - ncbi.nlm.nih.gov
Bloom syndrome (BS) is an inherited genomic instability disorder caused by disruption of the BLM helicase and confers an extreme cancer predisposition. Here we report on a girl with …
H Kaneko, R Inoue, Y Yamada… - … journal of cancer, 1996 - Wiley Online Library
Bloom syndrome (BS) is a rare autosomal recessive genetic disorder characterized by lupus‐ like erythematous telangiectasias of the face, sun sensitivity, stunted growth infertility and …
EH Sybouts, AD Brown… - Molecular …, 2021 - molecularcasestudies.cshlp.org
Bloom syndrome is a rare autosomal recessive disorder with less than 300 cases reported in the literature. Bloom syndrome is characterized by chromosome instability, physical …
ERA Thomas, S Shanley, L Walker, R Eeles - Clinical oncology, 2008 - Elsevier
We report a patient with Bloom syndrome, a rare autosomal recessive condition characterised by chromosomal instability leading to a high risk of cancer at an early age …
H Arora, AH Chacon, S Choudhary… - International journal …, 2014 - Wiley Online Library
Abstract Bloom Syndrome (BS, MIM# 210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme R ec QL 3 …
D Aslan, FS Ezgu - Genetic Testing and Molecular Biomarkers, 2009 - go.gale.com
WE READ WITH GREAT INTEREST the recent article by Amor-Gueret et al.(2008)(" Three new BLM gene mutations associated with Bloom syndrome"). They reported on their …
EN Suspitsin, FI Sibgatullina, LV Lyazina… - Molecular …, 2017 - karger.com
Bloom syndrome (BS) is an exceptionally rare hereditary disease. Typical manifestations of BS usually include growth deficiency, a characteristic facial appearance, skin …
T Giesler, K Baker, B Zhang, LD McDaniel… - Somatic cell and …, 1997 - Springer
Bloom syndrome (BLM) is a genetic disorder associated with predisposition to cancer and chromosome instability. However, the most readily recognized clinical feature of the …