1 - 25 of
126
results
for author:"Antonarakis S.E."
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) |
| Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation. Bedard K., Attar H., Bonnefont J., Jaquet V., Borel C., Plastre O., Stasia M.-J., Antonarakis S.E., Krause K.-H. |
| Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype. Hubert F.X., Kinkel S.A., Crewther P.E., Cannon P.Z., Webster K.E., Link M., Uibo R., O'Bryan M.K., Meager A., Forehan S.P. et al. J. Immunol. 182:3902-3918(2009) · Mapped (7) |
| DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. Canzonetta C., Mulligan C., Deutsch S., Ruf S., O'Doherty A., Lyle R., Borel C., Lin-Marq N., Delom F., Groet J. et al. Am. J. Hum. Genet. 83:388-400(2008) · Mapped (20) |
| Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development. Bonnefont J., Nikolaev S.I., Perrier A.L., Guo S., Cartier L., Sorce S., Laforge T., Aubry L., Khaitovich P., Peschanski M. et al. Am. J. Hum. Genet. 83:208-218(2008) · Mapped (6) |
| Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome. Voronov S.V., Frere S.G., Giovedi S., Pollina E.A., Borel C., Zhang H., Schmidt C., Akeson E.C., Wenk M.R., Cimasoni L. et al. Proc. Natl. Acad. Sci. U.S.A. 105:9415-9420(2008) · Mapped (1) |
| Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3. Friedli M., Nikolaev S., Lyle R., Arcangeli M., Duboule D., Spitz F., Antonarakis S.E. Mamm. Genome 19:272-278(2008) · Mapped (2) |
| Promoter polymorphisms and allelic imbalance in ABCB1 expression. Loeuillet C., Weale M., Deutsch S., Rotger M., Soranzo N., Wyniger J., Lettre G., Dupre Y., Thuillard D., Beckmann J.S. et al. Pharmacogenet. Genomics 17:951-959(2007) · Mapped (8) |
| 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. |
| TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness. Guipponi M., Antonarakis S.E., Scott H.S. Front. Biosci. 13:1557-1567(2008) · Mapped (3) |
| A whole-genome association study of major determinants for host control of HIV-1. Fellay J., Shianna K.V., Ge D., Colombo S., Ledergerber B., Weale M., Zhang K., Gumbs C., Castagna A., Cossarizza A. et al. |
| Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease. de Pontual L., Pelet A., Clement-Ziza M., Trochet D., Antonarakis S.E., Attie-Bitach T., Beales P.L., Blouin J.L., Dastot-Le Moal F., Dollfus H. et al. Hum. Mutat. 28:790-796(2007) · Mapped (16) |
| Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. Everman D.B., Morgan C.T., Lyle R., Laughridge M.E., Bamshad M.J., Clarkson K.B., Colby R., Gurrieri F., Innes A.M., Roberson J. et al. Am. J. Med. Genet. A 140:1375-1383(2006) · Mapped (4) |
| Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. Lyle R., Radhakrishna U., Blouin J.L., Gagos S., Everman D.B., Gehrig C., Delozier-Blanchet C., Solanki J.V., Patel U.C., Nath S.K. et al. Am. J. Med. Genet. A 140:1384-1395(2006) · Mapped (9) |
| DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Hornef N., Olbrich H., Horvath J., Zariwala M.A., Fliegauf M., Loges N.T., Wildhaber J., Noone P.G., Kennedy M., Antonarakis S.E. et al. Am. J. Respir. Crit. Care Med. 174:120-126(2006) · UniProtKB (1) · Mapped (2) |
| Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm labor. Landau R., Morales M.A., Antonarakis S.E., Blouin J.L., Smiley R.M. Clin. Pharmacol. Ther. 78:656-663(2005) · Mapped (2) |
| COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Gothelf D., Eliez S., Thompson T., Hinard C., Penniman L., Feinstein C., Kwon H., Jin S., Jo B., Antonarakis S.E. et al. Nat. Neurosci. 8:1500-1502(2005) · Mapped (8) |
| LRP5 gene polymorphisms and idiopathic osteoporosis in men. Ferrari S.L., Deutsch S., Baudoin C., Cohen-Solal M., Ostertag A., Antonarakis S.E., Rizzoli R., de Vernejoul M.C. Bone 37:770-775(2005) · Mapped (2) |
| A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. Wattenhofer M., Sahin-Calapoglu N., Andreasen D., Kalay E., Caylan R., Braillard B., Fowler-Jaeger N., Reymond A., Rossier B.C., Karaguzel A. et al. |
| LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes. Mehenni H., Lin-Marq N., Buchet-Poyau K., Reymond A., Collart M.A., Picard D., Antonarakis S.E. Hum. Mol. Genet. 14:2209-2219(2005) · Mapped (15) |
| Binding of PTEN to specific PDZ domains contributes to PTEN protein stability and phosphorylation by microtubule-associated serine/threonine kinases. Valiente M., Andres-Pons A., Gomar B., Torres J., Gil A., Tapparel C., Antonarakis S.E., Pulido R. J. Biol. Chem. 280:28936-28943(2005) · UniProtKB (5) · Mapped (6) |
| Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro. Wattenhofer M., Reymond A., Falciola V., Charollais A., Caille D., Borel C., Lyle R., Estivill X., Petersen M.B., Meda P. et al. Hum. Mutat. 25:543-549(2005) · Mapped (1) |
| Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes. Castelo R., Reymond A., Wyss C., Camara F., Parra G., Antonarakis S.E., Guigo R., Eyras E. Nucleic Acids Res. 33:1935-1939(2005) · UniProtKB (6) |
| Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis. Webster K.E., O'Bryan M.K., Fletcher S., Crewther P.E., Aapola U., Craig J., Harrison D.K., Aung H., Phutikanit N., Lyle R. et al. Proc. Natl. Acad. Sci. U.S.A. 102:4068-4073(2005) · Mapped (2) |
