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The C-MYB locus is involved in chromosomal translocation and genomic duplications in human T-cell acute leukemia (T-ALL), the translocation defining a new T-ALL subtype in very young children.
The C-Myb transcription factor is essential for hematopoiesis, including in the T-cell lineage. The C-Myb locus is a common site of retroviral insertional mutagenesis, however no recurrent genomic… Expand
Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy
The genetic variation underlying facioscapulohumeral muscular dystrophy (FSHD), 1 of the most common hereditary neuromuscular disorders, is complex, and associated with the contraction of a repeat… Expand
A diagnostic genetic test for the physical mapping of germline rearrangements in the susceptibility breast cancer genes BRCA1 and BRCA2
The BRCA1 and BRCA2 genes are involved in breast and ovarian cancer susceptibility. About 2 to 4% of breast cancer patients with positive family history, negative for point mutations, can be expected… Expand
Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability
- Claire Bénéteau, E. Landais, +9 authors P. Jonveaux
- Medicine, Biology
- Journal of Medical Genetics
- 26 May 2011
Background Partial tetrasomy is mainly described as a cytogenetically visible rearrangement due to a supernumerary chromosome (i(12p), i(18p), inv dup(15)). Except for chromosome 15q11q13,… Expand
defining a new TALL subtype in very young children duplications in human T-cell acute leukemia ( TALL )-the translocation The C-MYB locus is involved in chromosomal translocation and genomic
The c-Myb transcription factor is essential for primitive and adult hematopoiesis, including in the T-cell lineage. The c-myb locus is a common site of retroviral insertional mutagenesis, however no… Expand
DNA Combing Assay for Detection of Contraction-Dependent Facioscapulohumeral Muscular Dystrophy (FSHD1) (PD3.005)
O.6 Beyond counting copies: direct visualization of copy number variations in a specific genomic context to explore facio-scapulo-humeral dystrophy (FSHD)
- K. Nguyen, P. Walrafen, S. Attarian, A. Vannier, N. Levy
- Neuromuscular Disorders
- 1 October 2010
‘‘calpainopathy”) is caused by defects in p94/calpain 3, which is the skeletal muscle-specific member of Ca-dependent cysteine protease ‘‘calpain”. Mammals have 15 genes for calpains (CAPN1 CAPN3,… Expand
Detecting HPV integration and amplification by molecular combing: Applications for cervical cancer.
B3 Human papillomavirus (HPV) genital infection is very common, with one or more subtypes of HPV. In most cases, viral DNA can no longer be detected after some time, revealing the transient character… Expand
115 A Diagnostic Genetic Test for the Physical Mapping of Germline Rearrangements in the Susceptibility Breast Cancer Genes BRCA1 and BRCA2