about
Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasiaGenotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomainEpidemiology and clinical aspects of Werner's syndrome in North Sardinia: description of a cluster.Contrast echocardiography for pulmonary arteriovenous malformations screening: does any bubble matter?Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia.Liver involvement in hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber disease.Efficacy and safety of thalidomide for the treatment of severe recurrent epistaxis in hereditary haemorrhagic telangiectasia: results of a non-randomised, single-centre, phase 2 study.HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis.Correlation of severity of epistaxis with nasal telangiectasias in hereditary hemorrhagic telangiectasia (HHT) patients.Activin Receptor-like kinase 1: a novel anti-angiogenesis target from TGF-β family.Fluorescein-guided intraoperative endoscopy in patients with hereditary hemorrhagic telangiectasia: first impressions.Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes.Hereditary haemorrhagic telangiectasia in North African and sub-Saharan patients.Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.Bone marrow failure may be caused by chromosome anomalies exerting effects on RUNX1T1 gene.Argon plasma coagulation is an effective treatment for hereditary hemorrhagic telangiectasia patients with severe nosebleeds.Treatment of epistaxis in hereditary hemorrhagic telangiectasia patients by argon plasma coagulation with local anesthesia.Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site.Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome.Interobserver agreement in diagnosing liver involvement in hereditary hemorrhagic telangiectasia by Doppler ultrasound.Can GH induce chromosome breaks or microsatellite instability in GH-deficient children?Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukaemia.Increase of circulating endothelial cells in patients with Hereditary Hemorrhagic Telangiectasia.Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.Different forms of pulmonary hypertension in a family with clinical and genetic evidence for hereditary hemorrhagic teleangectasia type 2.Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studiesEchocardiographic screening discloses increased values of pulmonary artery systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasiaVascular abnormalities in the fingers of patients affected with hereditary hemorrhagic telangiectasia (HHT) as assessed by color doppler sonographyDoppler Ultrasonographic Grading of Hepatic Vascular Malformations in Hereditary Hemorrhagic Telangiectasia - Results of Extensive ScreeningHigh prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasiaFamilial partial monosomy 7 and myelodysplasiaIsochromosome (7)(q10) in Shwachman Syndrome Without MDS/AML and Role of Chromosome 7 Anomalies in Myeloproliferative DisordersCorrespondenceConcurrent cytogenetic and molecular investigations in uterine and ovarian neoplasmsShwachman-Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability
P50
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P50
description
hulumtuese
@sq
onderzoeker
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researcher
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հետազոտող
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name
Carla Olivieri
@ast
Carla Olivieri
@en
Carla Olivieri
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Carla Olivieri
@nl
Carla Olivieri
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type
label
Carla Olivieri
@ast
Carla Olivieri
@en
Carla Olivieri
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Carla Olivieri
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Carla Olivieri
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prefLabel
Carla Olivieri
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Carla Olivieri
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Carla Olivieri
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Carla Olivieri
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Carla Olivieri
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P1053
D-8525-2011
P106
P1153
35579361200
P21
P31
P3829
P496
0000-0001-5812-3175