| A multitracer dopaminergic PET study of young-onset parkinsonian patients with and without parkin gene mutations. Ribeiro M.J., Thobois S., Lohmann E., du Montcel S.T., Lesage S., Pelissolo A., Dubois B., Mallet L., Pollak P., Agid Y. et al.
J. Nucl. Med. 50:1244-1250(2009) · Mapped (14) |
| Thanatophoric dysplasia caused by double missense FGFR3 mutations. Pannier S., Martinovic J., Heuertz S., Delezoide A.L., Munnich A., Schibler L., Serre V., Legeai-Mallet L.
Am. J. Med. Genet. A 149A:1296-1301(2009) · Mapped (10) |
| Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia. Pannier S., Couloigner V., Messaddeq N., Elmaleh-Berges M., Munnich A., Romand R., Legeai-Mallet L.
Biochim. Biophys. Acta 1792:140-147(2009) · Mapped (18) |
| A multidisciplinary study of patients with early-onset PD with and without parkin mutations. Lohmann E., Thobois S., Lesage S., Broussolle E., du Montcel S.T., Ribeiro M.J., Remy P., Pelissolo A., Dubois B., Mallet L. et al.
Neurology 72:110-116(2009) · Mapped (14) |
| Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). Genevieve D., Proulle V., Isidor B., Bellais S., Serre V., Djouadi F., Picard C., Vignon-Savoye C., Bader-Meunier B., Blanche S. et al.
Nat. Genet. 40:284-286(2008) · UniProtKB (1) · Mapped (9) |
| Human immortalized chondrocytes carrying heterozygous FGFR3 mutations: an in vitro model to study chondrodysplasias. Benoist-Lasselin C., Gibbs L., Heuertz S., Odent T., Munnich A., Legeai-Mallet L.
FEBS Lett. 581:2593-2598(2007) · Mapped (10) |
| FGFR3 intracellular mutations induce tyrosine phosphorylation in the Golgi and defective glycosylation. Gibbs L., Legeai-Mallet L.
Biochim. Biophys. Acta 1773:502-512(2007) · Mapped (10) |
| The transcriptional activation region of Msn2p, in Saccharomyces cerevisiae, is regulated by stress but is insensitive to the cAMP signalling pathway. Boy-Marcotte E., Garmendia C., Garreau H., Lallet S., Mallet L., Jacquet M.
Mol. Genet. Genomics 275:277-287(2006) · Mapped (1) |
| ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Dagoneau N., Benoist-Lasselin C., Huber C., Faivre L., Megarbane A., Alswaid A., Dollfus H., Alembik Y., Munnich A., Legeai-Mallet L. et al.
Am. J. Hum. Genet. 75:801-806(2004) · UniProtKB (1) · Mapped (2) |
| Overexpression of FGFR3, Stat1, Stat5 and p21Cip1 correlates with phenotypic severity and defective chondrocyte differentiation in FGFR3-related chondrodysplasias. Legeai-Mallet L., Benoist-Lasselin C., Munnich A., Bonaventure J.
Bone 34:26-36(2004) · Mapped (11) |
| Null leukemia inhibitory factor receptor (LIFR) mutations in Stueve-Wiedemann/Schwartz-Jampel type 2 syndrome. Dagoneau N., Scheffer D., Huber C., Al-Gazali L.I., Di Rocco M., Godard A., Martinovic J., Raas-Rothschild A., Sigaudy S., Unger S. et al.
Am. J. Hum. Genet. 74:298-305(2004) · UniProtKB (1) · Mapped (1) |
| Parathyroid hormone receptor type 1/Indian hedgehog expression is preserved in the growth plate of human fetuses affected with fibroblast growth factor receptor type 3 activating mutations. Cormier S., Delezoide A.L., Benoist-Lasselin C., Legeai-Mallet L., Bonaventure J., Silve C.
Am. J. Pathol. 161:1325-1335(2002) · Mapped (14) |
| Genotype-phenotype correlation in hereditary multiple exostoses. Francannet C., Cohen-Tanugi A., Le Merrer M., Munnich A., Bonaventure J., Legeai-Mallet L.
J. Med. Genet. 38:430-434(2001) · UniProtKB (1) · Mapped (1) |
| Functional cloning of the adenylate cyclase gene of Candida albicans in Saccharomyces cerevisiae within a genomic fragment containing five other genes, including homologues of CHS6 and SAP185. Mallet L., Renault G., Jacquet M.
Yeast 16:959-966(2000) · UniProtKB (8) · Mapped (6) |
| The nucleotide sequence of Saccharomyces cerevisiae chromosome XIV and its evolutionary implications. Philippsen P., Kleine K., Poehlmann R., Duesterhoeft A., Hamberg K., Hegemann J.H., Obermaier B., Urrestarazu L.A., Aert R., Albermann K. et al.
Nature 387:93-98(1997) · UniProtKB (1,259) |
| Positional cloning of a gene involved in hereditary multiple exostoses. Wuyts W., van Hul W., Wauters J., Nemtsova M., Reyniers E., van Hul E., de Boulle K., de Vries B.B.A., Hendrickx J., Herrygers I. et al.
Hum. Mol. Genet. 5:1547-1557(1996) · UniProtKB (1) |
| Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). Rousseau F., el Ghouzzi V., Delezoide A.-L., Legeai-Mallet L., le Merrer M., Munnich A., Bonaventure J.
Hum. Mol. Genet. 5:509-512(1996) · UniProtKB (1) |
| A 43.5 kb segment of yeast chromosome XIV, which contains MFA2, MEP2, CAP/SRV2, NAM9, FKB1/FPR1/RBP1, MOM22 and CPT1, predicts an adenosine deaminase gene and 14 new open reading frames. Mallet L., Bussereau F., Jacquet M.
Yeast 11:1195-1209(1995) · UniProtKB (28) |
| A 12.8 kb segment, on the right arm of chromosome II from Saccharomyces cerevisiae including part of the DUR1,2 gene, contains five putative new genes. Bussereau F., Mallet L., Gaillon L., Jacquet M.
Yeast 9:797-806(1993) · UniProtKB (7) · Mapped (6) |
| RIM2, MSI1 and PGI1 are located within an 8 kb segment of Saccharomyces cerevisiae chromosome II, which also contains the putative ribosomal gene L21 and a new putative essential gene with a leucine zipper motif. Demolis N., Mallet L., Bussereau F., Jacquet M.
Yeast 9:645-659(1993) · UniProtKB (7) · Mapped (1) |
| Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Rousseau F., Bonaventure J., Legeai-Mallet L., Pelet A., Rozet J.-M., Maroteaux P., le Merrer M., Munnich A.
Nature 371:252-254(1994) · UniProtKB (1) |
| Nucleotide sequence analysis of an 11.7 kb fragment of yeast chromosome II including BEM1, a new gene of the WD-40 repeat family and a new member of the KRE2/MNT1 family. Mallet L., Bussereau F., Jacquet M.
Yeast 10:819-831(1994) · UniProtKB (6) · Mapped (7) |
| A 12.5 kb fragment of the yeast chromosome II contains two adjacent genes encoding ribosomal proteins and six putative new genes, one of which encodes a putative transcriptional factor. Demolis N., Jacquet M., Mallet L.
Yeast 10:1511-1525(1994) · UniProtKB (10) · Mapped (1) |
| Complete DNA sequence of yeast chromosome II. Feldmann H., Aigle M., Aljinovic G., Andre B., Baclet M.C., Barthe C., Baur A., Becam A.-M., Biteau N., Boles E. et al.
EMBO J. 13:5795-5809(1994) · UniProtKB (1,279) · Mapped (1) |
| The mitochondrial receptor complex: Mom22 is essential for cell viability and directly interacts with preproteins. Hoenlinger A., Kuebrich M., Moczko M., Gaertner F., Mallet L., Bussereau F., Eckerskorn C., Lottspeich F., Dietmeier K., Jacquet M. et al.
Mol. Cell. Biol. 15:3382-3389(1995) · UniProtKB (1) · Mapped (2) |
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