Search Results - "Taviaux, S."
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Discordant sex in monozygotic XXY/XX twins: a case report
Published in Human reproduction (Oxford) (01-12-2014)“…We report a case of discordant phenotypic sex in monozygotic twins mosaic 47,XXY/46,XX: monozygotic heterokaryotypic twins. The twins presented with cognitive…”
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Heterogeneous patterns of amplification of the NUP214-ABL1 fusion gene in T-cell acute lymphoblastic leukemia
Published in Leukemia (01-01-2009)“…Episomes with the NUP214-ABL1 fusion gene have been observed in 6% of T-ALL. In this multicentric study we collected 27 cases of NUP214-ABL1 -positive T-ALL…”
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The human growth factor-inducible immediate early gene, CYR61, maps to chromosome 1p
Published in Oncogene (10-04-1997)“…Complementary DNA encoding the human CYR61 protein was isolated from human embryonic tissues and mapped to chromosome 1p22-p31. We show that CYR61 encodes a…”
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5-HT4 Receptors: Cloning and Expression of New Splice Variants
Published in Annals of the New York Academy of Sciences (01-12-1998)“…On the basis of differences in the potencies and intrinsic activity of 5‐HT4 receptor agonists in different biological models it has been suggested that there…”
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Human E2F5 gene is oncogenic in primary rodent cells and is amplified in human breast tumors
Published in Genes chromosomes & cancer (01-05-2000)“…E2F transcription factors (E2F1 to 6) are central players in the control of animal cell proliferation as regulators of genes involved in cell cycle progression…”
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The Human SOX11 Gene: Cloning, Chromosomal Assignment and Tissue Expression
Published in Genomics (San Diego, Calif.) (20-09-1995)“…The mammalian testis determining gene SRY contains an HMG box-related DNA binding motif. By analogy a family of genes related to SRY in the HMG domain have…”
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Revelation of an acute lymphoblastic leukemia in the delivery room
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01-07-2007)“…Acute leukemia is uncommon in neonates and has a much poorer prognosis than in older children. We report on a case of acute lymphoblastic leukemia observed in…”
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Expression and Human Chromosomal Localization to 17q25 of the Growth-Regulated Gene Encoding the Mitochondrial Ribosomal Protein MRPL12
Published in Genomics (San Diego, Calif.) (01-05-1997)“…Mitochondrial activity requires the expression of nuclear genes, whose products are part of multiproteic complexes leading to ATP production and delivery. We…”
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Localization of Staf50, a member of the ring finger family, to 11p15 by fluorescence in situ hybridization
Published in Genomics (San Diego, Calif.) (15-05-1996)“…The interferons (IFNs) are a family of secreted multifunctional proteins. First characterized for their antiviral functions, it has now been established that…”
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PC8 [corrected], a new member of the convertase family
Published in Biochemical journal (15-03-1996)“…A novel subtilisin-like protein, PC8, was identified by PCR using degenerate primers to conserved amino acid residues in the catalytic region of members of the…”
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Localization of human cell cycle regulatory genes CDC25C to 5q31 and WEE1 to 11p15.3-11p15.1 by fluorescence in situ hybridization
Published in Genomics (San Diego, Calif.) (01-01-1993)“…The cell cycle control genes are highly conserved during evolution since they play a key role in the regulation of cell division. We have localized CDC25C and…”
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Assignment of human genes for β2 and β4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23
Published in Human genetics (09-07-1997)Get full text
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Localization of the ribonuclease L inhibitor gene (RNSAI), a new member of the interferon-regulated 2-5A pathway, to 4q31 by fluorescence in situ hybridization
Published in Genomics (San Diego, Calif.) (15-03-1996)“…The 2-5A/RNase L system is one of the major pathways induced by interferon (IFN). It plays a major role in the antiviral and antiproliferative activities of…”
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Assignment of 5-hydroxytryptamine receptor (HTR4) to human chromosome 5 bands q31-->q33 by in situ hybridization
Published in Cytogenetics and cell genetics (01-01-1997)Get more information
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Leucémie aiguë lymphoblastique néonatale : une affection rare à révélation immédiate en salle de naissance
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01-07-2007)“…La leucémie aiguë est une maladie exceptionnelle en période néonatale et son pronostic est sévère, bien moins bon que chez les enfants plus âgés. Nous…”
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Chromosomal localization of the human genes for α1A, α1B, and α1E voltage-dependent Ca2+ channel subunits
Published in Genomics (San Diego, Calif.) (01-12-1995)Get full text
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Localization of ARHG, a member of the RAS homolog gene family, to 11p15.5-11p15.4 by fluorescence in situ hybridization
Published in Genomics (San Diego, Calif.) (01-06-1993)Get more information
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Further cytogenetic characterization of multiple myeloma confirms that 14q32 translocations are a very rare event in hyperdiploid cases
Published in Genes chromosomes & cancer (01-11-2003)“…Translocations involving the immunoglobulin heavy‐chain genes are frequent in multiple myeloma (MM), which can be separated into two groups according to the…”
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Interstitial deletion of chromosome 1 del (1) (q32 q42): case report and review of the literature
Published in Clinical genetics (01-01-1992)“…We describe the case of a female infant with multiple congenital anomalies who was found to have a de novo distal intestinal del (1) (q32 q42). The clinical…”
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