Ultra High Throughput Sequencing in Human DNA Variation Detection: A Comparative Study on the NDUFA3-PRPF31 Region

द्वारा Benaglio, Paola, Rivolta, Carlo
प्रकाशित 2010

Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population

द्वारा Nishiguchi, Koji M., Rivolta, Carlo
प्रकाशित 2012

Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases

द्वारा Hanany, Mor, Rivolta, Carlo, Sharon, Dror
में प्रकाशित Proc Natl Acad Sci U S A (2020)

Subunit II of Bacillus subtilis Cytochrome c Oxidase Is a Lipoprotein

द्वारा Bengtsson, Jenny, Tjalsma, Harold, Rivolta, Carlo, Hederstedt, Lars
प्रकाशित 1999

CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance

द्वारा Venturini, Giulia, Rose, Anna M., Shah, Amna Z., Bhattacharya, Shomi S., Rivolta, Carlo
प्रकाशित 2012

A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa

द्वारा Tanackovic, Goranka, Ransijn, Adriana, Ayuso, Carmen, Harper, Shyana, Berson, Eliot L., Rivolta, Carlo
प्रकाशित 2011

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay

द्वारा Rio Frio, Thomas, Wade, Nicholas M., Ransijn, Adriana, Berson, Eliot L., Beckmann, Jacques S., Rivolta, Carlo
प्रकाशित 2008

Dominant PRPF31 Mutations Are Hypostatic to a Recessive CNOT3 Polymorphism in Retinitis Pigmentosa: A Novel Phenomenon of “Linked Trans-Acting Epistasis”

द्वारा Rose, Anna M, Shah, Amna Z, Venturini, Giulia, Rivolta, Carlo, Rose, Geoffrey E, Bhattacharya, Shomi S
में प्रकाशित Ann Hum Genet (2013)

UV light signature in conjunctival melanoma; not only skin should be protected from solar radiation

द्वारा Rivolta, Carlo, Royer-Bertrand, Beryl, Rimoldi, Donata, Schalenbourg, Ann, Zografos, Leonidas, Leyvraz, Serge, Moulin, Alexandre
में प्रकाशित J Hum Genet (2016)

Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa

द्वारा Rose, Anna M., Shah, Amna Z., Venturini, Giulia, Krishna, Abhay, Chakravarti, Aravinda, Rivolta, Carlo, Bhattacharya, Shomi S.
में प्रकाशित Sci Rep (2016)

DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders

द्वारा Quinodoz, Mathieu, Royer-Bertrand, Beryl, Cisarova, Katarina, Di Gioia, Silvio Alessandro, Superti-Furga, Andrea, Rivolta, Carlo
में प्रकाशित Am J Hum Genet (2017)

Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies

द्वारा Salmaninejad, Arash, Bedoni, Nicola, Ravesh, Zeinab, Quinodoz, Mathieu, Shoeibi, Nasser, Mojarrad, Majid, Pasdar, Alireza, Rivolta, Carlo
में प्रकाशित Sci Rep (2020)

Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa

द्वारा Frio, Thomas Rio, Panek, Sylwia, Iseli, Christian, Di Gioia, Silvio Alessandro, Kumar, Arun, Gal, Andreas, Rivolta, Carlo
प्रकाशित 2009

Molecular Genetics of FAM161A in North American Patients with Early-Onset Retinitis Pigmentosa

द्वारा Venturini, Giulia, Di Gioia, Silvio Alessandro, Harper, Shyana, Weigel-DiFranco, Carol, Rivolta, Carlo, Berson, Eliot L.
प्रकाशित 2014

PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa

द्वारा Tanackovic, Goranka, Ransijn, Adriana, Thibault, Philippe, Abou Elela, Sherif, Klinck, Roscoe, Berson, Eliot L., Chabot, Benoit, Rivolta, Carlo
प्रकाशित 2011

Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4

द्वारा Ur Rehman, Atta, Peter, Virginie G., Quinodoz, Mathieu, Rashid, Abdur, Khan, Syed Akhtar, Superti-Furga, Andrea, Rivolta, Carlo
में प्रकाशित Genes (Basel) (2019)

A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance

द्वारा Rio Frio, Thomas, McGee, Terri L., Wade, Nicholas M., Iseli, Christian, Beckmann, Jacques S., Berson, Eliot L., Rivolta, Carlo
प्रकाशित 2009

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome

द्वारा Gioia, Silvio Alessandro Di, Bedoni, Nicola, von Scheven-Gête, Annette, Vanoni, Federica, Superti-Furga, Andrea, Hofer, Michaël, Rivolta, Carlo
में प्रकाशित Sci Rep (2015)

Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

द्वारा Corton, Marta, Nishiguchi, Koji M., Avila-Fernández, Almudena, Nikopoulos, Konstantinos, Riveiro-Alvarez, Rosa, Tatu, Sorina D., Ayuso, Carmen, Rivolta, Carlo
प्रकाशित 2013

Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

द्वारा Corton, Marta, Nishiguchi, Koji M., Avila-Fernández, Almudena, Nikopoulos, Konstantinos, Riveiro-Alvarez, Rosa, Tatu, Sorina D., Ayuso, Carmen, Rivolta, Carlo
में प्रकाशित PLoS One (2016)