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26
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for author:"Colleaux L."
in Literature Citations
| Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. Boissel S., Reish O., Proulx K., Kawagoe-Takaki H., Sedgwick B., Yeo G.S., Meyre D., Golzio C., Molinari F., Kadhom N. et al. Am. J. Hum. Genet. 85:106-111(2009) · Mapped (4) |
| Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. de Pontual L., Mathieu Y., Golzio C., Rio M., Malan V., Boddaert N., Soufflet C., Picard C., Durandy A., Dobbie A. et al. |
| Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders. Laroche F., Ramoz N., Leroy S., Fortin C., Rousselot-Paillet B., Philippe A., Colleaux L., Bresson J.L., Mogenet A., Golse B. et al. Psychiatr. Genet. 18:295-301(2008) · Mapped (25) |
| Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Molinari F., Foulquier F., Tarpey P.S., Morelle W., Boissel S., Teague J., Edkins S., Futreal P.A., Stratton M.R., Turner G. et al. Am. J. Hum. Genet. 82:1150-1157(2008) · UniProtKB (2) · Mapped (8) |
| Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome. Borck G., Molla-Herman A., Boddaert N., Encha-Razavi F., Philippe A., Robel L., Desguerre I., Brunelle F., Benmerah A., Munnich A. et al. Hum. Mutat. 29:966-974(2008) · Mapped (5) |
| Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Amiel J., Rio M., de Pontual L., Redon R., Malan V., Boddaert N., Plouin P., Carter N.P., Lyonnet S., Munnich A. et al. Am. J. Hum. Genet. 80:988-993(2007) · UniProtKB (1) |
| Tequila, a neurotrypsin ortholog, regulates long-term memory formation in Drosophila. Didelot G., Molinari F., Tchenio P., Comas D., Milhiet E., Munnich A., Colleaux L., Preat T. Science 313:851-853(2006) · Mapped (13) |
| Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Molinari F., Raas-Rothschild A., Rio M., Fiermonte G., Encha-Razavi F., Palmieri L., Palmieri F., Ben-Neriah Z., Kadhom N., Vekemans M. et al. Am. J. Hum. Genet. 76:334-339(2005) · UniProtKB (1) |
| NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. Borck G., Redon R., Sanlaville D., Rio M., Prieur M., Lyonnet S., Vekemans M., Carter N.P., Munnich A., Colleaux L. et al. J. Med. Genet. 41:e128-e128(2004) · Mapped (5) |
| Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. Baujat G., Rio M., Rossignol S., Sanlaville D., Lyonnet S., Le Merrer M., Munnich A., Gicquel C., Cormier-Daire V., Colleaux L. Am. J. Hum. Genet. 74:715-720(2004) · UniProtKB (1) · Mapped (9) |
| Spectrum of NSD1 mutations in Sotos and Weaver syndromes. Rio M., Clech L., Amiel J., Faivre L., Lyonnet S., Le Merrer M., Odent S., Lacombe D., Edery P., Brauner R. et al. J. Med. Genet. 40:436-440(2003) · UniProtKB (1) · Mapped (9) |
| Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. Molinari F., Rio M., Meskenaite V., Encha-Razavi F., Auge J., Bacq D., Briault S., Vekemans M., Munnich A., Attie-Bitach T. et al. |
| Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype. Faivre L., Cormier-Daire V., Lapierre J.M., Colleaux L., Jacquemont S., Genevieve D., Saunier P., Munnich A., Turleau C., Romana S. et al. J. Med. Genet. 39:594-596(2002) · Mapped (1) |
| Cloning of Z39Ig, a novel gene with immunoglobulin-like domains located on human chromosome X. Langnaese K., Colleaux L., Kloos D.U., Fontes M., Wieacker P. Biochim. Biophys. Acta 1492:522-525(2000) · UniProtKB (1) |
| Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein. Cardoso C., Timsit S., Villard L., Khrestchatisky M., Fontes M., Colleaux L. Hum. Mol. Genet. 7:679-684(1998) · UniProtKB (2) · Mapped (1) |
| Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase. Villard L., Lossi A.-M., Cardoso C., Proud V., Chiaroni P., Colleaux L., Schwartz C., Fontes M. Genomics 43:149-155(1997) · UniProtKB (1) |
| Expression and mapping of the mouse S7/Pmsc2 gene, homolog of an essential mitotic gene in yeast. Allen J., Colleaux L., Davidson D., Graham E., Lee M., Hill R., Abbott C., Gordon C. Mamm. Genome 8:352-354(1997) · Mapped (14) |
| Complete DNA sequence of yeast chromosome XI. Dujon B., Alexandraki D., Andre B., Ansorge W., Baladron V., Ballesta J.P.G., Banrevi A., Bolle P.-A., Bolotin-Fukuhara M., Bossier P. et al. Nature 369:371-378(1994) · UniProtKB (1,168) |
| Developmental changes of the 26 S proteasome in abdominal intersegmental muscles of Manduca sexta during programmed cell death. Dawson S.P., Arnold J.E., Mayer N.J., Reynolds S.E., Billett M.A., Gordon C., Colleaux L., Kloetzel P.-M., Tanaka K., Mayer R.J. J. Biol. Chem. 270:1850-1858(1995) · UniProtKB (1) |
| Mitochondrial introns as mobile genetic elements: the role of intron-encoded proteins. Dujon B., Colleaux L., Jacquier A., Michel F., Monteilhet C. Basic Life Sci. 40:5-27(1986) · Mapped (2) |
| Universal code equivalent of a yeast mitochondrial intron reading frame is expressed into E. coli as a specific double strand endonuclease. Colleaux L., d'Auriol L., Betermier M., Cottarel G., Jacquier A., Galibert F., Dujon B. Cell 44:521-533(1986) · Mapped (2) |
| Recognition and cleavage site of the intron-encoded omega transposase. Colleaux L., D'Auriol L., Galibert F., Dujon B. Proc. Natl. Acad. Sci. U.S.A. 85:6022-6026(1988) · Mapped (2) |
| Purification and characterization of the in vitro activity of I-Sce I, a novel and highly specific endonuclease encoded by a group I intron. Monteilhet C., Perrin A., Thierry A., Colleaux L., Dujon B. Nucleic Acids Res. 18:1407-1413(1990) · UniProtKB (1) · Mapped (1) |
| The apocytochrome b gene of Chlamydomonas smithii contains a mobile intron related to both Saccharomyces and Neurospora introns. Colleaux L., Michel-Wolwertz M.R., Matagne R.F., Dujon B. Mol. Gen. Genet. 223:288-296(1990) · UniProtKB (2) |
| Sequence of a segment of yeast chromosome XI identifies a new mitochondrial carrier, a new member of the G protein family, and a protein with the PAAKK motif of the H1 histones. Colleaux L., Richard G.-F., Thierry A., Dujon B. Yeast 8:325-336(1992) · UniProtKB (6) |
