Search results for "cnv"
showing 10 items of 21 documents
A randomized trial of intravitreal bevacizumab vs. ranibizumab for myopic CNV.
2014
AIMS: The aim was to compare the efficacy of intravitreal therapy with bevacizumab and ranibizumab for choroidal neovascularization (CNV) in pathologic myopia (PM). METHODS: This was a prospective multicenter randomized nonblinded trial. RESULTS: In seven centers, 78 eyes were randomized 1:1 to treatment with bevacizumab (group B, 40 eyes) or ranibizumab (group R, 38 eyes) given with an "on demand" regimen (PRN). The mean follow-up was 19 months (SD 2, range 12-24). The mean BCVA at baseline was 0.60 logMAR (20/80 Snellen equivalent, Seq) and 50 letter score (ls). Mean final BCVA was 0.51 LogMAR (20/63 Seq) and 57 ls (p = 0.0009 and p = 0.0002, respectively). In group B, mean basal BCVA was…
2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype
2021
In this paper we describe an additional newborn patient with craniofacial dysmorphisms, congenital heart disease, hypotonia and a 2q13 deletion of 1.7 Mb, whose clinical and genomic findings are consistent with the diagnosis of 2q13 microdeletion syndrome.
Identification of SNPs and copy number variation in goat MC1R and ASIP genes: an association study with coat colour in a few Mediterranean goat breeds
2008
Il neurone autistico: analisi funzionale in silico dei geni coinvolti nelle Copy Number Variants
2009
Epilessia e disturbi dello spettro autistico: c'è un rischio genetico condiviso ?
2011
Perfil genético, epigenético e inmunohistoquímico en los cánceres de mama esporádicos y hereditarios
2016
El cáncer de mama (CM) es una de las principales causas de muerte por cáncer en la mujer en todo el mundo. En la actualidad el CM se entiende como una enfermedad heterogénea que abarca una serie de entidades definidas por sus diferentes características biológicas y comportamientos clínicos. Todo ello ha llevado a la búsqueda de biomarcadores que, a nivel individual o en combinación con otros marcadores (perfiles), ofrezcan a una mayor precisión diagnóstica, en el comportamiento evolutivo y en la predicción de la respuesta terapéutica. El presente estudio considera como mecanismo etiopatogénico de referencia del CM las mutaciones en los genes supresores tumorales BRCA1 y BRCA2, característic…
Three different approaches to cognitive fatigue in patients with a mild form of multiple sclerosis : objective cognitive, subjective cognitive and ne…
2017
Tämän tutkimuksen tarkoitus oli arvioida kognitiivista uupumusta lievää multippeli skleroosin (MS) muotoa sairastavilla potilailla kolmea eri lähestymistapaa käyttäen: objektiivista kognitiivista, subjektiivista kognitiivista ja neurofysiologista. Objektiivista kognitiivista uupumusta arvioitiin tarkkaavuuden ylläpitoa, reaktionopeutta ja työmuistia mittaavilla tehtävillä. Subjektiivista kognitiivista uupumusta sekä elämänlaatua arvioitiin itsearvioilla. Neurofysiologiset mittaukset käsittivät aivojen sähköiin herätevasteisiin perustuvia observaatioita. Mittareina olivat kontingentti negatiivinen variaatio (CNV) ja P3. Tutkimukseen osallistui 20 MS-tautia sairastavaa ja 20 verrallistettua t…
Event related brain potential (ERP) correlates of activation and effort in state regulation among children with attentional problems
2002
SULT1A1 gene deletion in BRCA2-associated male breast cancer: a link between genes and environmental exposures?
2013
SULT1A1, a member of sulfotransferase superfamily, is a drug and hormone metabolizing enzyme involved in the metabolism of a variety of potential mammary carcinogens of endogenous and exogenous origin. Interestingly, the metabolic activity of SULT1A1 can be affected by varia- tions in gene copy number. Male Breast Cancer (MBC) is a rare disease and less investigated disease compared to female BC (FBC). As in FBC, the concurrent effects of genetic risk factors, particularly BRCA2 mutations, increased exposure to estrogens and environmental carcinogens play a relevant role in MBC. By quantitative real-time PCR with TaqMan probes, we investigated the presence of SULT1A1 gene copy number variat…
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.
2022
Interstitial deletions of the long arm of chromosome 12 are rare, with a dozen patients carrying a deletion in 12q21 being reported. Recently a critical region (CR) has been delimited and could be responsible for the more commonly described clinical features, such as developmental delay/intellectual disability, congenital genitourinary and brain malformations. Other, less frequent, clinical signs do not seem to be correlated to the proposed CR. We present seven new patients harboring non-recurrent deletions ranging from 1 to 18.5 Mb differentially scattered across 12q21. Alongside more common clinical signs, some patients have rarer features such as heart defects, hearing loss, hypotonia an…