| FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies. Di Gioia S.A., Letteboer S.J., Kostic C., Bandah-Rozenfeld D., Hetterschijt L., Sharon D., Arsenijevic Y., Roepman R., Rivolta C.
Hum. Mol. Genet. 21:5174-5184(2012) · UniProtKB (7) · Mapped (5) |
| Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis. Avila-Fernandez A., Corton M., Nishiguchi K.M., Munoz-Sanz N., Benavides-Mori B., Blanco-Kelly F., Riveiro-Alvarez R., Garcia-Sandoval B., Rivolta C., Ayuso C.
Ophthalmology 119:2616-2621(2012) · Mapped (7) |
| Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome. Venturini G., Moulin A.P., Deprez M., Uffer S., Bottani A., Zografos L., Rivolta C.
Ophthalmology 119:857-864(2012) · Mapped (3) |
| Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase. Salvi E., Kutalik Z., Glorioso N., Benaglio P., Frau F., Kuznetsova T., Arima H., Hoggart C., Tichet J., Nikitin Y.P. et al.
Hypertension 59:248-255(2012) · Mapped (7) |
| Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: identification a cryptic donor splice site in the exon 19. Targovnik H.M., Edouard T., Varela V., Tauber M., Citterio C.E., Gonzalez-Sarmiento R., Rivolta C.M.
Mol. Cell. Endocrinol. 348:313-321(2012) · Mapped (9) |
| Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa. Benaglio P., McGee T.L., Capelli L.P., Harper S., Berson E.L., Rivolta C.
Hum. Mutat. 32:E2246-E2258(2011) · UniProtKB (1) · Mapped (9) |
| A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. Tanackovic G., Ransijn A., Ayuso C., Harper S., Berson E.L., Rivolta C.
Am. J. Hum. Genet. 88:643-649(2011) · UniProtKB (1) |
| PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa. Tanackovic G., Ransijn A., Thibault P., Abou Elela S., Klinck R., Berson E.L., Chabot B., Rivolta C.
Hum. Mol. Genet. 20:2116-2130(2011) · Mapped (16) |
| Thyroglobulin gene mutations in congenital hypothyroidism. Targovnik H.M., Citterio C.E., Rivolta C.M.
Horm Res Paediatr 75:311-321(2011) · Mapped (9) |
| Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism. Chiesa A., Rivolta C.M., Targovnik H.M., Gruneiro-Papendieck L.
Endocrine 38:377-385(2010) · Mapped (9) |
| Association of the TGrI29 microsatellite in thyroglobulin gene with autoimmune thyroiditis in a Argentinian population: a case-control study. Varela V., Rizzo L., Domene S., Bruno O.D., Tellechea M.L., Rivolta C.M., Targovnik H.M.
Endocrine 38:320-327(2010) · Mapped (9) |
| Analysis of thyroglobulin gene polymorphisms in patients with autoimmune thyroiditis. Caputo M., Rivolta C.M., Mories T., Corrales J.J., Galindo P., Gonzalez-Sarmiento R., Targovnik H.M., Miralles-Garcia J.M.
Endocrine 37:389-395(2010) · Mapped (9) |
| Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. Langmann T., Di Gioia S.A., Rau I., Stohr H., Maksimovic N.S., Corbo J.C., Renner A.B., Zrenner E., Kumaramanickavel G., Karlstetter M. et al.
Am. J. Hum. Genet. 87:376-381(2010) · UniProtKB (2) · Mapped (9) |
| Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa. Rio Frio T., Panek S., Iseli C., Di Gioia S.A., Kumar A., Gal A., Rivolta C.
Mol. Vis. 15:2627-2633(2009) · Mapped (1) |
| Mutation screening of the glutamate cysteine ligase modifier (GCLM) gene in patients with schizophrenia. Butticaz C., Werge T., Beckmann J.S., Cuenod M., Do K.Q., Rivolta C.
Psychiatr. Genet. 19:201-208(2009) · Mapped (3) |
| Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7. Machiavelli G.A., Caputo M., Rivolta C.M., Olcese M.C., Gruneiro-Papendieck L., Chiesa A., Gonzalez-Sarmiento R., Targovnik H.M.
Clin. Endocrinol. (Oxf) 72:112-121(2010) · Mapped (9) |
| PRPF31 alternative splicing and expression in human retina. Tanackovic G., Rivolta C.
Ophthalmic Genet. 30:76-83(2009) · Mapped (5) |
| Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene. Rivolta C.M., Olcese M.C., Belforte F.S., Chiesa A., Gruneiro-Papendieck L., Iorcansky S., Herzovich V., Cassorla F., Gauna A., Gonzalez-Sarmiento R. et al.
Mol. Cell. Probes 23:148-153(2009) · UniProtKB (1) · Mapped (3) |
| The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. Fukada T., Civic N., Furuichi T., Shimoda S., Mishima K., Higashiyama H., Idaira Y., Asada Y., Kitamura H., Yamasaki S. et al.
PLoS ONE 3:e3642-e3642(2008) · Mapped (3) |
| Identification and characterization of new variants of three associated SNPs and a microsatellite in the TSH receptor gene which are useful for genetic studies. Esperante S.A., Rivolta C.M., Caputo M., Gonzalez-Sarmiento R., Targovnik H.M.
Mol. Cell. Probes 22:281-286(2008) · Mapped (6) |
| Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. Rio Frio T., Wade N.M., Ransijn A., Berson E.L., Beckmann J.S., Rivolta C.
J. Clin. Invest. 118:1519-1531(2008) · Mapped (5) |
| Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms. Caputo M., Rivolta C.M., Gutnisky V.J., Gruneiro-Papendieck L., Chiesa A., Medeiros-Neto G., Gonzalez-Sarmiento R., Targovnik H.M.
J. Endocrinol. 195:167-177(2007) · Mapped (9) |
| Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene. Caputo M., Rivolta C.M., Esperante S.A., Gruneiro-Papendieck L., Chiesa A., Pellizas C.G., Gonzalez-Sarmiento R., Targovnik H.M.
Clin. Endocrinol. (Oxf.) 67:351-357(2007) · UniProtKB (1) · Mapped (8) |
| Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases. Rivolta C., Berson E.L., Dryja T.P.
Mol. Vis. 12:1511-1515(2006) · Mapped (1) |
| Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A-->C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect. Varela V., Rivolta C.M., Esperante S.A., Gruneiro-Papendieck L., Chiesa A., Targovnik H.M.
Clin. Chem. 52:182-191(2006) · UniProtKB (1) · Mapped (1) |
