Items where Author is "Berson, Eliot L."

2015

Venturini, Giulia and Koskiniemi-Kuendig, Hanna and Harper, Shyana and Berson, Eliot L. and Rivolta, Carlo. (2015) Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry. Genetics in medicine, 17 (4). pp. 285-290.

2014

Venturini, Giulia and Di Gioia, Silvio Alessandro and Harper, Shyana and Weigel-DiFranco, Carol and Rivolta, Carlo and Berson, Eliot L.. (2014) Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa. PLoS ONE, 9 (3). e92479.

Benaglio, Paola and San Jose, Patricia Fernandez and Avila-Fernandez, Almudena and Ascari, Giulia and Harper, Shyana and Manes, Gaël and Ayuso, Carmen and Hamel, Christian and Berson, Eliot L. and Rivolta, Carlo. (2014) Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa. Molecular vision, 20. pp. 843-851.

2013

Nishiguchi, Koji M. and Tearle, Richard G. and Liu, Yangfan P. and Oh, Edwin C. and Miyake, Noriko and Benaglio, Paola and Harper, Shyana and Koskiniemi-Kuendig, Hanna and Venturini, Giulia and Sharon, Dror and Koenekoop, Robert K. and Nakamura, Makoto and Kondo, Mineo and Ueno, Shinji and Yasuma, Tetsuhiro R. and Beckmann, Jacques S. and Ikegawa, Shiro and Matsumoto, Naomichi and Terasaki, Hiroko and Berson, Eliot L. and Katsanis, Nicholas and Rivolta, Carlo. (2013) Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. Proceedings of the National Academy of Sciences, 110 (40). pp. 16139-16144.

2011

Tanackovic, Goranka and Ransijn, Adriana and Ayuso, Carmen and Harper, Shyana and Berson, Eliot L. and Rivolta, Carlo. (2011) A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. American Journal of Human Genetics, 88 (5). pp. 643-649.

Benaglio, Paola and McGee, Terri L. and Capelli, Leonardo P. and Harper, Shyana and Berson, Eliot L. and Rivolta, Carlo. (2011) Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa. Human Mutation, 32 (6). E2246-E2258.

Tanackovic, Goranka and Ransijn, Adriana and Thibault, Philippe and Abou Elela, Sherif and Klinck, Roscoe and Berson, Eliot L. and Chabot, Benoit and Rivolta, Carlo. (2011) PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa. Human Molecular Genetics, 20 (11). pp. 2116-2130.

2009

Rio Frio, Thomas and McGee, Terri L. and Wade, Nicholas M. and Iseli, Christian and Beckmann, Jacques S. and Berson, Eliot L. and Rivolta, Carlo. (2009) A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance. Human mutation, 30 (9). pp. 1340-1347.

2008

Rio Frio, Thomas and Wade, Nicholas M. and Ransijn, Adriana and Berson, Eliot L. and Beckmann, Jacques S. and Rivolta, Carlo. (2008) Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. Journal of Clinical Investigation, 118 (4). pp. 1519-1531.

2006

Rivolta, Carlo and Berson, Eliot L. and Dryja, Thaddeus P.. (2006) Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases. Molecular vision, 12. pp. 1511-1515.

Rivolta, Carlo and McGee, Terri L. and Rio Frio, Thomas and Jensen, Roderick V. and Berson, Eliot L. and Dryja, Thaddeus P.. (2006) Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. Human mutation, 27 (7). pp. 644-653.

2004

Seyedahmadi, Babak Jian and Rivolta, Carlo and Keene, Julia A. and Berson, Eliot L. and Dryja, Thaddeus P.. (2004) Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. Experimental Eye Research, 79 (2). pp. 167-173.

2003

Rivolta, Carlo and Ayyagari, Radha and Sieving, Paul A. and Berson, Eliot L. and Dryja, Taddeus P.. (2003) Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. Molecular vision, 9. pp. 49-51.

November 2002

Wang, Xuejiao and Xu, Siqun and Rivolta, Carlo and Li, Lili Y. and Peng, Guang-Hua and Swain, Prabodh K. and Sung, Ching-Hwa and Swaroop, Anand and Berson, Eliot L. and Dryja, Thaddeus P. and Chen, Shiming. (2002) Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function. Journal of Biological Chemistry, 277 (45). pp. 43288-43300.

2002

Rivolta, Carlo and Berson, Eliot L. and Dryja, Thaddeus P.. (2002) Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A. Archives of ophthalmology, 120 (11). pp. 1566-1571.

2001

Rivolta, Carlo and Berson, Eliot L. and Dryja, Thaddeus P.. (2001) Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX. Human Mutation, 18 (6). pp. 488-498.

Rivolta, Carlo and Peck, Naomi E. and Fulton, Anne B. and Fishman, Gerald A. and Berson, Eliot L. and Dryja, Thaddeus P.. (2001) Novel frameshift mutations in CRX associated with Leber congenital amaurosis. Human mutation, 18 (6). pp. 550-551.

2000

Rivolta, Carlo and Sweklo, Elizabeth A. and Berson, Eliot L. and Dryja, Thaddeus P.. (2000) Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. American Journal of Human Genetics, 66 (6). pp. 1975-1978.