1 - 25 of
46
results
for author:"Rossier C."
in Literature Citations
| Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls. Makrythanasis P., Kapranov P., Bartoloni L., Reymond A., Deutsch S., Guigo R., Denoeud F., Drenkow J., Rossier C., Ariani F. et al. Hum. Mutat. 30:E866-79(2009) · Mapped (5) |
| Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening. D'haene B., Attanasio C., Beysen D., Dostie J., Lemire E., Bouchard P., Field M., Jones K., Lorenz B., Menten B. et al. PLoS Genet. 5:e1000522-e1000522(2009) · Mapped (6) |
| Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. Failly M., Bartoloni L., Letourneau A., Munoz A., Falconnet E., Rossier C., de Santi M.M., Santamaria F., Sacco O., DeLozier-Blanchet C.D. et al. J. Med. Genet. 46:281-286(2009) · Mapped (3) |
| DNAI1 mutations explain only 2% of primary ciliary dykinesia. Failly M., Saitta A., Munoz A., Falconnet E., Rossier C., Santamaria F., de Santi M.M., Lazor R., DeLozier-Blanchet C.D., Bartoloni L. et al. Respiration 76:198-204(2008) · Mapped (7) |
| Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Schwabe G.C., Hoffmann K., Loges N.T., Birker D., Rossier C., de Santi M.M., Olbrich H., Fliegauf M., Failly M., Liebers U. et al. |
| The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. Guipponi M., Vuagniaux G., Wattenhofer M., Shibuya K., Vazquez M., Dougherty L., Scamuffa N., Guida E., Okui M., Rossier C. et al. Hum. Mol. Genet. 11:2829-2836(2002) · UniProtKB (2) · Mapped (13) |
| Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Bartoloni L., Blouin J.-L., Pan Y., Gehrig C., Maiti A.K., Scamuffa N., Rossier C., Jorissen M., Armengot M., Meeks M. et al. Proc. Natl. Acad. Sci. U.S.A. 99:10282-10286(2002) · UniProtKB (1) · Mapped (6) |
| Nineteen additional unpredicted transcripts from human chromosome 21. Reymond A., Camargo A.A., Deutsch S., Stevenson B.J., Parmigiani R.B., Ucla C., Bettoni F., Rossier C., Lyle R., Guipponi M. et al. |
| Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. Wattenhofer M., Di Iorio V., Rabionet R., Dougherty L., Pampanos A., Schwede T., Montserrat-Sentis B., Arbones L., Iliades T., Pasquadibisceglie A. et al. |
| In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Michaud J., Wu F., Osato M., Cottles G.M., Yanagida M., Asou N., Shigesada K., Ito Y., Benson K.F., Raskind W.H. et al. Blood 99:1364-1372(2002) · Mapped (4) |
| The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family. Guipponi M., Tapparel C., Jousson O., Scamuffa N., Mas C., Rossier C., Hutter P., Meda P., Lyle R., Reymond A. et al. |
| From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map. Reymond A., Friedli M., Neergaard Henrichsen C., Chapot F., Deutsch S., Ucla C., Rossier C., Lyle R., Guipponi M., Antonarakis S.E. |
| Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness. Masmoudi S., Antonarakis S.E., Schwede T., Ghorbel A.M., Gratri M., Pappasavas M.P., Drira M., Elgaied-Boulila A., Wattenhofer M., Rossier C. et al. |
| Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains. Wattenhofer M., Shibuya K., Kudoh J., Lyle R., Michaud J., Rossier C., Kawasaki K., Asakawa S., Minoshima S., Berry A. et al. Hum. Genet. 108:140-147(2001) · UniProtKB (1) |
| Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia. Bartoloni L., Blouin J.-L., Maiti A.K., Sainsbury A., Rossier C., Gehrig C., She J.X., Marron M.P., Lander E.S., Meeks M. et al. Genomics 72:21-33(2001) · UniProtKB (1) |
| Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Scott H.S., Kudoh J., Wattenhofer M., Shibuya K., Berry A., Chrast R., Guipponi M., Wang J., Kawasaki K., Asakawa S. et al. Nat. Genet. 27:59-63(2001) · UniProtKB (1) |
| Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency. Bartoloni L., Wattenhofer M., Kudoh J., Berry A., Shibuya K., Kawasaki K., Wang J., Asakawa S., Talior I., Bonne-Tamir B. et al. |
| Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein. Michaud J., Kudoh J., Berry A., Bonne-Tamir B., Lalioti M.D., Rossier C., Shibuya K., Kawasaki K., Asakawa S., Minoshima S. et al. Genomics 68:71-79(2000) · UniProtKB (2) |
| C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning. Guipponi M., Brunschwig K., Chamoun Z., Scott H.S., Shibuya K., Kudoh J., Delezoide A.-L., El Samadi S., Chettouh Z., Rossier C. et al. Genomics 68:30-40(2000) · UniProtKB (2) |
| Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region. Berry A., Scott H.S., Kudoh J., Talior I., Korostishevsky M., Wattenhofer M., Guipponi M., Barras C., Rossier C., Shibuya K. et al. Genomics 68:22-29(2000) · UniProtKB (5) |
| Structure of the human lanosterol synthase gene and its analysis as a candidate for holoprosencephaly. Roessler E., Mittaz L., Du Y., Scott H.S., Chang J., Rossier C., Guipponi M., Matsuda S.P., Muenke M., Antonarakis S.E. Hum. Genet. 105:489-495(1999) · UniProtKB (1) |
| A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y. Chen H., Rossier C., Morris M.A., Scott H.S., Gos A., Bairoch A., Antonarakis S.E. Hum. Genet. 105:399-409(1999) · UniProtKB (1) |
| The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; no phenotype prediction from the position of GLI3 mutations. Radhakrishna U., Bornholdt D., Scott H.S., Patel U.C., Rossier C., Engel H., Bottani A., Chandal D., Blouin J.-L., Solanki J.V. et al. Am. J. Hum. Genet. 65:645-655(1999) · UniProtKB (1) |
| Isolation and characterization of the mouse Aire gene. Mittaz L., Rossier C., Heino M., Petersen P., Krohn K.J.E., Gos A., Morris M.A., Kudoh J., Shimizu N., Antonarakis S.E. et al. Biochem. Biophys. Res. Commun. 255:483-490(1999) · UniProtKB (1) · Mapped (12) |
| Mutation analyses of North American APS-1 patients. Heino M., Scott H.S., Chen Q., Peterson P., Maeenpaeae U., Papasavvas M.-P., Mittaz L., Barras C., Rossier C., Chrousos G.P. et al. Hum. Mutat. 13:69-74(1999) · UniProtKB (1) |
