9 results for author:"Dastot F." in Literature citations
Results Customize
› Repeat search in UniProtKB (5)
| Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. Blanchon S., Legendre M., Copin B., Duquesnoy P., Montantin G., Kott E., Dastot F., Jeanson L., Cachanado M., Rousseau A. et al. J. Med. Genet. 49:410-416(2012) · Mapped (3) |
| The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia. Pennarun G., Chapelin C., Escudier E., Bridoux A.-M., Dastot F., Cacheux V., Goossens M., Amselem S., Duriez B. |
| Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency. Duquesnoy P., Roy A., Dastot F., Ghali I., Teinturier C., Netchine I., Cacheux V., Hafez M., Salah N., Chaussain J.-L. et al. FEBS Lett. 437:216-220(1998) · UniProtKB (1) |
| A membrane-fixed, truncated isoform of the human growth hormone receptor. Amit T., Bergman T., Dastot F., Youdim M.B.H., Amselem S., Hochberg Z. J. Clin. Endocrinol. Metab. 82:3813-3817(1997) · UniProtKB (1) |
| Nine novel growth hormone receptor gene mutations in patients with Laron syndrome. Sobrier M.-L., Dastot F., Duquesnoy P., Kandemir N., Yordam N., Goossens M., Amselem S. J. Clin. Endocrinol. Metab. 82:435-437(1997) · UniProtKB (1) |
| Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein. Dastot F., Sobrier M.-L., Duquesnoy P., Duriez B., Goossens M., Amselem S. Proc. Natl. Acad. Sci. U.S.A. 93:10723-10728(1996) · UniProtKB (1) |
| Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome. Amselem S., Duquesnoy P., Duriez B., Dastot F., Sobrier M.-L., Valleix S., Goossens M. Hum. Mol. Genet. 2:355-359(1993) · UniProtKB (1) |
| A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization. Duquesnoy P., Sobrier M.-L., Duriez B., Dastot F., Buchanan C.R., Savage M.O., Preece M.A., Craescu C.T., Blouquit Y., Goossens M. et al. EMBO J. 13:1386-1395(1994) · UniProtKB (1) |
| An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. Duriez B., Duquesnoy P., Dastot F., Bougneres P., Amselem S., Goossens M. FEBS Lett. 346:165-170(1994) · UniProtKB (1) |