Search Results - "Bennour, Ayda"
-
1
X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene
Published in BMC medical genomics (26-07-2022)“…Abstract Introduction X-linked recessive ichthyosis (XLI) is a genodermatosis, caused by a deficiency of the steroid sulphatase enzyme encoded by the STS gene…”
Get full text
Journal Article -
2
Genome Tunisia Project: paving the way for precision medicine in North Africa
Published in Genome medicine (27-08-2024)“…Key discoveries and innovations in the field of human genetics have led to the foundation of molecular and personalized medicine. Here, we present the Genome…”
Get full text
Journal Article -
3
A novel t(3;12)(q21;p13) translocation in a patient with accelerated chronic myeloid leukemia after imatinib and nilotinib therapy
Published in Cancer biology & medicine (01-03-2013)“…The acquisition of secondary chromosomal aberrations in chronic myeloid leukemia (CML) patients with Philadelphia chromosome-positive (Ph+) karyotype signifies…”
Get full text
Journal Article -
4
Chronic myeloid leukemia: Relevance of cytogenetic and molecular assays
Published in Critical reviews in oncology/hematology (01-01-2016)“…Highlights • Ph negative and variant Ph rearrangements are diagnosed with cytogenetic tests. • Additional abnormalities in Ph+/−karyotype are revealed by…”
Get full text
Journal Article -
5
Analysis of the clinico-hematological relevance of the breakpoint location within M-BCR in chronic myeloid leukemia
Published in Medical oncology (Northwood, London, England) (01-03-2013)“…The Philadelphia chromosome (Ph) derives from the balanced translocation between chromosomes 9 and 22. This chromosomal translocation results in the fusion…”
Get full text
Journal Article -
6
E355G mutation appearing in a patient with e19a2 chronic myeloid leukaemia resistant to imatinib
Published in Journal of clinical pathology (01-08-2010)“…The development of imatinib is a milestone in the treatment of chronic myeloid leukaemia (CML), and its therapeutic effect has been extensively investigated in…”
Get more information
Journal Article -
7
Comprehensive analysis of BCR/ABL variants in chronic myeloid leukemia patients using multiplex RT-PCR
Published in Clinical laboratory (Heidelberg) (2012)“…A specific chromosomal abnormality, the Philadelphia chromosome (Ph), is present in 90 - 95% of patients with chronic myeloid leukemia (CML). This aberration…”
Get more information
Journal Article -
8
A PML/RARA chimeric gene on chromosome 12 in a patient with acute promyelocytic leukemia (M4) associated with a new variant translocation: t(12;15;17)(q24;q24;q11)
Published in Medical oncology (Northwood, London, England) (01-03-2013)“…Acute promyelocytic leukemia (APL) is genetically characterized by a reciprocal translocation between chromosomes 15 and 17, t(15;17)(q22;q21), which results…”
Get full text
Journal Article -
9
Molecular cytogenetic characterization of Philadelphia-negative rearrangements in chronic myeloid leukemia patients
Published in Journal of cancer research and clinical oncology (01-09-2011)“…Background The BCR/ABL gene rearrangement is generated by a reciprocal translocation t(9;22)(q34;q11) in chronic myeloid leukemia (CML) patients. In most…”
Get full text
Journal Article -
10
Translocation t(X;10)(p10;p10): a rare chromosomal abnormality in a new born female with acute myeloid leukemia
Published in Medical oncology (Northwood, London, England) (01-06-2012)“…Sex chromosomes are infrequently involved in patients with hematologic malignancies. In most instances, the abnormality is either duplication in the q arm or…”
Get full text
Journal Article -
11
A novel t(3;12)(q21;p13) translocation in a patient with accelerated chronic myeloid leukemia after imatinib and nilotinib therapy
Published in 癌症生物学与医学:英文版 (2013)“…The acquisition of secondary chromosomal aberrations in chronic myeloid leukemia (CML) patients with Philadelphia chromosome-positive (Ph+) karyotype signifies…”
Get full text
Journal Article -
12
Molecular cytogenetic study of derivative chromosome 9 deletion in chronic myeloid leukemia patients
Published in Medical oncology (Northwood, London, England) (01-06-2012)“…The aims of this study are to investigate the frequency of derivative chromosome 9 (der (9)) deletion in Tunisian patients with chronic myeloid leukemia (CML)…”
Get full text
Journal Article -
13
Molecular cytogenetic characterization of variant Philadelphia translocations in chronic myeloid leukemia: genesis and deletion of derivative chromosome 9
Published in Cancer genetics and cytogenetics (01-10-2009)“…Abstract The mechanisms for the formation of variant Philadelphia (Ph) translocations that occur in 5–10% of patients with chronic myeloid leukemia (CML) are…”
Get full text
Journal Article -
14
A masked BCR / ABL rearrangement in a case of chronic myeloid leukemia with translocation t(3;9)(p14;q34)
Published in Cancer genetics and cytogenetics (01-02-2008)Get full text
Journal Article -
15
-
16