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European Journal of Human Genetics (4)
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Showing 1–16 of 16 results

Advanced filters: Author: Mario Tosi Clear advanced filters

Mouse liver and salivary gland α-amylase mRNAs differ only in 5′ non-translated sequences

Otto Hagenbüchle
Mario Tosi
Richard A. Young
Research19 Feb 1981
Nature

Volume: 289, P: 643-646
Unbiased discovery of autoantibodies associated with severe COVID-19 via genome-scale self-assembled DNA-barcoded protein libraries

Pathogenic autoreactive antibodies associated with severe COVID-19 can be identified via self-assembled genome-scale libraries of full-length proteins covalently coupled to uniquely identifying DNA barcodes for analysis by sequencing.

Joel J. Credle
Jonathan Gunn
H. Benjamin Larman
Research19 Aug 2022
Nature Biomedical Engineering

Volume: 6, P: 992-1003
Circulating tumor DNA to guide rechallenge with panitumumab in metastatic colorectal cancer: the phase 2 CHRONOS trial

In a phase 2 trial, monitoring tumor resistance mutations in blood using liquid biopsies allowed rationally guided subsequent therapy with anti-EGFR antibodies in patients with colorectal cancer.

Andrea Sartore-Bianchi
Filippo Pietrantonio
Alberto Bardelli
ResearchOpen Access01 Aug 2022
Nature Medicine

Volume: 28, P: 1612-1618
Innate and adaptive immune traits are differentially affected by genetic and environmental factors

Both genetics and environment affect the number and phenotype of immune cells. Here the authors characterize the degree of influence of genetics versus environment on various immune cell parameters by analysing a large cohort of female twins.

Massimo Mangino
Mario Roederer
Tim D. Spector
ResearchOpen Access05 Jan 2017
Nature Communications

Volume: 8, P: 1-7
Usefulness of autofluorescence bronchoscopy in early diagnosis of airway complications after lung transplantation

Paolo Mendogni
Rosaria Carrinola
Lorenzo Rosso
ResearchOpen Access18 Dec 2020
Scientific Reports

Volume: 10, P: 1-8
RNA splicing meets genetic testing: detection and interpretation of splicing defects in genetic diseases

Mario Tosi
Stefan Stamm
Diana Baralle
News & Views24 Feb 2010
European Journal of Human Genetics

Volume: 18, P: 737-738
Vitrectomy in Small idiopathic MAcuLar hoLe (SMALL) study: conventional internal limiting membrane peeling versus inverted flap

Matteo Fallico
Paolo Caselgrandi
Andrea Govetto
Research24 Aug 2024
Eye

Volume: 38, P: 3334-3340
Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

Jean Christophe Théry
Sophie Krieger
Mario Tosi
Research15 Jun 2011
European Journal of Human Genetics

Volume: 19, P: 1052-1058
Additional copies of 1q negatively impact the outcome of multiple myeloma patients and induce transcriptomic deregulation in malignant plasma cells

Mattia D’Agostino
Delia Rota-Scalabrini
Francesca Gay
ResearchOpen Access07 Jun 2024
Blood Cancer Journal

Volume: 14, P: 1-9
One week of levofloxacin plus dexamethasone eye drops for cataract surgery: an innovative and rational therapeutic strategy

Francesco Bandello
Marco Coassin
Giorgio Ciprandi
Research04 May 2020
Eye

Volume: 34, P: 2112-2122
A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy

Myriam Vezain
Pascale Saugier-Veber
Mario Tosi
Research04 Jul 2007
European Journal of Human Genetics

Volume: 15, P: 1054-1062
Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation

Pascale Saugier-Veber
Alice Goldenberg
Thierry Frébourg
Research14 Jun 2006
European Journal of Human Genetics

Volume: 14, P: 1009-1017
Influence of serum testosterone on urinary continence and sexual activity in patients undergoing radical prostatectomy for clinically localized prostate cancer

M Gacci
G Corona
M Carini
ResearchOpen Access09 Mar 2010
Prostate Cancer and Prostatic Diseases

Volume: 13, P: 168-172
Tumor-infiltrating lymphocytes in colorectal cancers with microsatellite instability are correlated with the number and spectrum of frameshift mutations

David Tougeron
Emilie Fauquembergue
Jean-Baptiste Latouche
Research05 Jun 2009
Modern Pathology

Volume: 22, P: 1186-1195
Risk of progression and survival in multiple myeloma relapsing after therapy with IMiDs and bortezomib: A multicenter international myeloma working group study

S K Kumar
J H Lee
Jeffrey Zonder
Research29 Jul 2011
Leukemia

Volume: 26, P: 149-157
Correction: One week of levofloxacin plus dexamethasone eye drops for cataract surgery: an innovative and rational therapeutic strategy

Francesco Bandello
Marco Coassin
Giorgio Ciprandi
Amendments and Corrections28 May 2020
Eye

Volume: 34, P: 2150