User profiles for "author:Paola Carrera"
paola carreraGroup Leader, Ospedale San Raffaele, Milano Verified email at hsr.it Cited by 5534 |
[HTML][HTML] Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities
C Di Resta, S Galbiati, P Carrera, M Ferrari - Ejifcc, 2018 - ncbi.nlm.nih.gov
The rapid evolution and widespread use of next generation sequencing (NGS) in clinical
laboratories has allowed an incredible progress in the genetic diagnostics of several …
laboratories has allowed an incredible progress in the genetic diagnostics of several …
[HTML][HTML] Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific …
A Russo, L Incorvaia, E Capoluongo, P Tagliaferri… - ESMO open, 2022 - Elsevier
Constitutional BRCA1/BRCA2 pathogenic or likely pathogenic variants (PVs) are associated
with an increased risk for developing breast and ovarian cancers. Current evidence …
with an increased risk for developing breast and ovarian cancers. Current evidence …
[PDF][PDF] Genome-wide analyses identify KIF5A as a novel ALS gene
To identify novel genes associated with ALS, we undertook two lines of investigation. We
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 …
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 …
[HTML][HTML] Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives
S Gori, M Barberis, MA Bella, F Buttitta… - Critical Reviews in …, 2019 - Elsevier
The current availability of new Poly (ADP-ribose) Polymerase (PARP)-inhibitors for the
treatment of ovarian cancer patients independently of the presence of a BRCA pathogenic …
treatment of ovarian cancer patients independently of the presence of a BRCA pathogenic …
X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19
T Asano, B Boisson, F Onodi, D Matuozzo… - Science …, 2021 - science.org
Autosomal inborn errors of type I IFN immunity and autoantibodies against these cytokines
underlie at least 10% of critical COVID-19 pneumonia cases. We report very rare …
underlie at least 10% of critical COVID-19 pneumonia cases. We report very rare …
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis
S Bandres‐Ciga, AJ Noyce, G Hemani… - Annals of …, 2019 - Wiley Online Library
Objective To identify shared polygenic risk and causal associations in amyotrophic lateral
sclerosis (ALS). Methods Linkage disequilibrium score regression and Mendelian …
sclerosis (ALS). Methods Linkage disequilibrium score regression and Mendelian …
A common mutation in the surfactant protein C gene associated with lung disease
HS Cameron, M Somaschini, P Carrera… - The Journal of …, 2005 - Elsevier
OBJECTIVE: To determine the contribution of the surfactant protein C (SP-C) I73T mutation
to lung disease. STUDY DESIGN: Genomic DNA was obtained from 116 children with …
to lung disease. STUDY DESIGN: Genomic DNA was obtained from 116 children with …
[HTML][HTML] Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
D Matuozzo, E Talouarn, A Marchal, P Zhang, J Manry… - Genome medicine, 2023 - Springer
Background We previously reported that impaired type I IFN activity, due to inborn errors of
TLR3-and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type …
TLR3-and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type …
SOD1 mutations in amyotrophic lateral sclerosis: results from a multicenter Italian study
S Battistini, F Giannini, G Greco, G Bibbò, L Ferrera… - Journal of …, 2005 - Springer
Abstract Amyotrophic Lateral Sclerosis (ALS), the most common form among motoneuron
diseases, is characterized by a progressive neurodegenerative process involving motor …
diseases, is characterized by a progressive neurodegenerative process involving motor …
[HTML][HTML] Three new familial hemiplegic migraine mutants affect P/Q-type Ca2+ channel kinetics
RL Kraus, MJ Sinnegger, A Koschak… - Journal of Biological …, 2000 - ASBMB
Missense mutations in the pore-forming human α 1A subunit of neuronal P/Q-type Ca 2+
channels are associated with familial hemiplegic migraine. We studied the functional …
channels are associated with familial hemiplegic migraine. We studied the functional …