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Your search keyword '"Delague V"' showing total 6 results
Start Over Author "Delague V" Publisher british medical association
6 results on '"Delague V"'

1. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

Author

Van Maldergem, L., Siitonen, H.A., Jalkh, N., Chouery, E., De Roy, M., Delague, V., Muenke, M., Jabs, E.W., Cai, J., Wang, L.L., Plon, S.E., Fourneau, C., Kestila, M., Gillerot, Y., Megarbane, A., and Verloes, A.

Subjects
Craniosynostoses -- Causes of, Craniosynostoses -- Reports, Craniosynostoses -- Genetic aspects, Gene mutations -- Analysis, Health
Published
2006

3. Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes

Author

Aubourg, P., Krahn, M., Bernard, R., Nguyen, K., Forzano, O., Boccaccio, I., Delague, V., De Sandre-Giovannoli, A., Pouget, J., Depetris, D., Mattei, M-G., Philip, N., and Levy, N.

Subjects
Oculomotor paralysis -- Genetic aspects, Fibrosis -- Genetic aspects, Chromosome mapping -- Genetic aspects, Eye -- Paralysis, Eye -- Genetic aspects, Health
Published
2005

4. Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly.

Author

Marion V, Stutzmann F, Gérard M, De Melo C, Schaefer E, Claussmann A, Hellé S, Delague V, Souied E, Barrey C, Verloes A, Stoetzel C, and Dollfus H

Subjects
Adult, Base Sequence, Child, Consanguinity, DNA Mutational Analysis, Female, Humans, Male, Molecular Sequence Data, Pedigree, Bardet-Biedl Syndrome genetics, Exome, Polydactyly genetics, Situs Inversus genetics, Transcription Factors genetics
Abstract

Background: Bardet--Biedl Syndrome (BBS) is an emblematic recessive genetically highly heterogeneous ciliopathy characterised mainly by polydactyly, retinitis pigmentosa, obesity, cognitive impairment, and kidney dysfunction. The 16 BBS genes known to date are implied in the primary cilia related cellular pathways., Methods and Results: Single nucleotide polymorphism (SNP) array analysis followed by exome sequencing was performed in a consanguineous family diagnosed with BBS with unusual developmental features, namely situs inversus and insertional polydactyly. A homozygous 5 bp deletion (NM_020347.2:c.402-406del, p.Pro136ThrfsX5) in LZTFL1 was identified. No LZTFL1 transcript was found in the patient's fibroblasts and no protein could be detected. The sonic hedgehog (Shh) pathway analysis conducted on the patient's fibroblast showed a significant increase in Smo. Patched1 as well as the downstream target GLI2 were also found to be upregulated, indicating an overall massive activation of the Shh signalling in the absence of LZTFL1., Conclusion: LZTFL1, encoding the human leucine zipper transcription factor like 1, has been recently shown to be an important negative regulator of BBSome ciliary trafficking and Shh signalling. This study shows that absence of LZTFL1 leads to a BBS phenotype with enhanced developmental abnormalities associated with cellular Shh dysfunction. LZTFL1 is a novel BBS gene (BBS17).

Published
2012
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5. Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations.

Author

De Sandre-Giovannoli A, Chaouch M, Boccaccio I, Bernard R, Delague V, Grid D, Vallat JM, Lévy N, and Mégarbané A

Subjects
Alternative Splicing genetics, Axons physiology, Base Sequence, Child, Codon, Nonsense, Consanguinity, DNA chemistry, DNA genetics, DNA Mutational Analysis, DNA, Complementary chemistry, DNA, Complementary genetics, Demyelinating Diseases pathology, Demyelinating Diseases physiopathology, Electrophysiology, Family Health, Female, Genotype, Humans, Male, Microscopy, Electron, Pedigree, Peripheral Nervous System Diseases pathology, Peripheral Nervous System Diseases physiopathology, Peroneal Nerve pathology, Peroneal Nerve ultrastructure, Phenotype, Demyelinating Diseases genetics, Mutation genetics, Nerve Tissue Proteins genetics, Peripheral Nervous System Diseases genetics
Published
2003
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6. Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.

Author

Mustapha M, Salem N, Delague V, Chouery E, Ghassibeh M, Rai M, Loiselet J, Petit C, and Mégarbané A

Subjects
Amino Acid Sequence, Base Sequence, Connexin 26, Connexins chemistry, DNA Mutational Analysis, Deafness epidemiology, Ethnicity genetics, Exons genetics, Female, Genetic Testing, Heterozygote, Humans, Lebanon epidemiology, Male, Prevalence, Religion, Connexins genetics, Deafness genetics, Genes, Recessive genetics, Mutation genetics, Sequence Deletion genetics
Published
2001
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