Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)
…, D Bevilacqua, AE Davidson, I Zito… - Human molecular …, 2012 - academic.oup.com
X-linked retinitis pigmentosa (XLRP) is genetically heterogeneous with two causative genes
identified, RPGR and RP2. We previously mapped a locus for a severe form of XLRP, RP23 …
identified, RPGR and RP2. We previously mapped a locus for a severe form of XLRP, RP23 …
RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections
I Zito, SM Downes, RJ Patel, ME Cheetham… - Journal of medical …, 2003 - jmg.bmj.com
METHODS Conventional chromosome analysis was performed from cultivated peripheral
blood cells after GTG and CBG banding at a 550-850 band level10 according to standard …
blood cells after GTG and CBG banding at a 550-850 band level10 according to standard …
Hereditary nonpolyposis colorectal cancer and related conditions
E Lucci‐Cordisco, I Zito, F Gensini… - American Journal of …, 2003 - Wiley Online Library
Hereditary nonpolyposis colorectal cancer (HNPCC) is a cancer‐predisposing condition
caused by inactivating mutations in at least four genes (MSH2, MLH1, MSH6, and PMS2) …
caused by inactivating mutations in at least four genes (MSH2, MLH1, MSH6, and PMS2) …
Molecular dissection of the events leading to inactivation of the FMR1 gene
R Pietrobono, E Tabolacci, F Zalfa, I Zito… - Human molecular …, 2005 - academic.oup.com
The analysis of a lymphoblastoid cell line (5106), derived from a rare individual of normal
intelligence with an unmethylated full mutation of the FMR1 gene, allowed us to reconstruct …
intelligence with an unmethylated full mutation of the FMR1 gene, allowed us to reconstruct …
Genotype-phenotype correlation in British families with X linked congenital stationary night blindness
LE Allen, I Zito, K Bradshaw, RJ Patel… - British journal of …, 2003 - bjo.bmj.com
Aim: To correlate the phenotype of X linked congenital stationary night blindness (CSNBX)
with genotype. Methods: 11 CSNB families were diagnosed with the X linked form of the …
with genotype. Methods: 11 CSNB families were diagnosed with the X linked form of the …
[HTML][HTML] The major vault protein is a novel substrate for the tyrosine phosphatase SHP-2 and scaffold protein in epidermal growth factor signaling
S Kolli, CI Zito, MH Mossink, EAC Wiemer… - Journal of Biological …, 2004 - ASBMB
The catalytic activity of the Src homology 2 (SH2) domain-containing tyrosine phosphatase,
SHP-2, is required for virtually all of its signaling effects. Elucidating the molecular …
SHP-2, is required for virtually all of its signaling effects. Elucidating the molecular …
Mutations in the CACNA1F and NYX genes in British CSNBX families
I Zito, LE Allen, RJ Patel, A Meindl… - Human …, 2003 - Wiley Online Library
X‐linked congenital stationary night blindness (CSNBX) is a genetically and phenotypically
heterogeneous non‐progressive disorder, characterised by impaired night vision but grossly …
heterogeneous non‐progressive disorder, characterised by impaired night vision but grossly …
[HTML][HTML] Evidence for a new locus for X-linked retinitis pigmentosa (RP23)
AJ Hardcastle, DL Thiselton, I Zito… - … & visual science, 2000 - iovs.arvojournals.org
purpose. X-linked retinitis pigmentosa (XLRP) is a degenerative disease of the retina
characterized in the early stages of disease by night blindness as a result of rod …
characterized in the early stages of disease by night blindness as a result of rod …
Phosphoproteomic screen identifies potential therapeutic targets in melanoma
K Tworkoski, G Singhal, S Szpakowski, CI Zito… - Molecular cancer …, 2011 - AACR
Therapies directed against receptor tyrosine kinases are effective in many cancer subtypes,
including lung and breast cancer. We used a phosphoproteomic platform to identify active …
including lung and breast cancer. We used a phosphoproteomic platform to identify active …
Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus
I Zito, DL Thiselton, MB Gorin, JT Stout, C Plant… - Human genetics, 1999 - Springer
The X-linked form of retinitis pigmentosa (XLRP) is a severe disease of the retina,
characterised by night blindness and visual field constriction in a degenerative process …
characterised by night blindness and visual field constriction in a degenerative process …