Lista de obras - Carla Olivieri - Dominio Público Uruguay

Activin Receptor-like kinase 1: a novel anti-angiogenesis target from TGF-β family.

artículo científico publicado en 2013

Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies

article

Argon plasma coagulation is an effective treatment for hereditary hemorrhagic telangiectasia patients with severe nosebleeds

artículo científico publicado en 2012

Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain

artículo científico publicado en 2011

Bone marrow failure may be caused by chromosome anomalies exerting effects on RUNX1T1 gene.

artículo científico publicado en 2018

Can GH induce chromosome breaks or microsatellite instability in GH-deficient children?

artículo científico publicado en 2004

Concurrent cytogenetic and molecular investigations in uterine and ovarian neoplasms

artículo científico publicado en 1998

Contrast echocardiography for pulmonary arteriovenous malformations screening: does any bubble matter?

artículo científico publicado en 2008

Correlation of severity of epistaxis with nasal telangiectasias in hereditary hemorrhagic telangiectasia (HHT) patients

artículo científico publicado en 2009

Correspondence

article published in 1999

Different forms of pulmonary hypertension in a family with clinical and genetic evidence for hereditary hemorrhagic teleangectasia type 2.

artículo científico publicado en 2018

Doppler Ultrasonographic Grading of Hepatic Vascular Malformations in Hereditary Hemorrhagic Telangiectasia - Results of Extensive Screening

artículo científico publicado en 2004

Echocardiographic screening discloses increased values of pulmonary artery systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasia

artículo científico publicado en 2006

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

artículo científico publicado en 2015

Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes.

artículo científico publicado en 2013

Epidemiology and clinical aspects of Werner's syndrome in North Sardinia: description of a cluster.

artículo científico publicado en 2007

Familial partial monosomy 7 and myelodysplasia

scientific article published on 01 January 2001

Fluorescein-guided intraoperative endoscopy in patients with hereditary hemorrhagic telangiectasia: first impressions.

artículo científico publicado en 2016

Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site.

artículo científico publicado en 2018

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network

artículo científico publicado en 2007

HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis.

artículo científico publicado en 2013

Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism ⬇️

artículo científico publicado el 28 de febrero de 2013

Hereditary haemorrhagic telangiectasia in North African and sub-Saharan patients

artículo científico publicado en 2014

Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients

artículo científico publicado en 2008

High prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasia

artículo científico publicado en 2004

Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia

artículo científico publicado en 2002

Immunohistochemical analysis of a merkeloma observed in a patient affected by hereditary haemorrhagic telangiectasia ⬇️

artículo científico publicado el 8 de febrero de 2010

Increase of circulating endothelial cells in patients with Hereditary Hemorrhagic Telangiectasia.

artículo científico publicado en 2014

Interobserver agreement in diagnosing liver involvement in hereditary hemorrhagic telangiectasia by Doppler ultrasound

artículo científico publicado en 2008

Isochromosome (7)(q10) in Shwachman Syndrome Without MDS/AML and Role of Chromosome 7 Anomalies in Myeloproliferative Disorders

artículo científico publicado en 2000

Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome

artículo científico publicado en 2002

Liver involvement in hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber disease.

artículo científico publicado en 2005

Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukaemia

artículo científico publicado en 2001

Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia.

artículo científico publicado en 2011

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

artículo científico publicado en 2010

Shwachman-Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability

scientific article published on 26 December 2018

Treatment of epistaxis in hereditary hemorrhagic telangiectasia patients by argon plasma coagulation with local anesthesia

artículo científico publicado en 2006

Vascular abnormalities in the fingers of patients affected with hereditary hemorrhagic telangiectasia (HHT) as assessed by color doppler sonography

scientific article published on 01 May 2005

Lista de obras de Carla Olivieri

Activin Receptor-like kinase 1: a novel anti-angiogenesis target from TGF-β family.

Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies

Argon plasma coagulation is an effective treatment for hereditary hemorrhagic telangiectasia patients with severe nosebleeds

Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain

Bone marrow failure may be caused by chromosome anomalies exerting effects on RUNX1T1 gene.

Can GH induce chromosome breaks or microsatellite instability in GH-deficient children?

Concurrent cytogenetic and molecular investigations in uterine and ovarian neoplasms

Contrast echocardiography for pulmonary arteriovenous malformations screening: does any bubble matter?

Correlation of severity of epistaxis with nasal telangiectasias in hereditary hemorrhagic telangiectasia (HHT) patients

Correspondence

Different forms of pulmonary hypertension in a family with clinical and genetic evidence for hereditary hemorrhagic teleangectasia type 2.

Doppler Ultrasonographic Grading of Hepatic Vascular Malformations in Hereditary Hemorrhagic Telangiectasia - Results of Extensive Screening

Echocardiographic screening discloses increased values of pulmonary artery systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasia

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

Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes.

Epidemiology and clinical aspects of Werner's syndrome in North Sardinia: description of a cluster.

Familial partial monosomy 7 and myelodysplasia

Fluorescein-guided intraoperative endoscopy in patients with hereditary hemorrhagic telangiectasia: first impressions.

Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site.

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network

HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis.

Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism ⬇️

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

High prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasia

Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia

Immunohistochemical analysis of a merkeloma observed in a patient affected by hereditary haemorrhagic telangiectasia ⬇️

Increase of circulating endothelial cells in patients with Hereditary Hemorrhagic Telangiectasia.

Interobserver agreement in diagnosing liver involvement in hereditary hemorrhagic telangiectasia by Doppler ultrasound

Isochromosome (7)(q10) in Shwachman Syndrome Without MDS/AML and Role of Chromosome 7 Anomalies in Myeloproliferative Disorders

Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome

Liver involvement in hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber disease.

Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukaemia

Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia.

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

Shwachman-Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability

Treatment of epistaxis in hereditary hemorrhagic telangiectasia patients by argon plasma coagulation with local anesthesia

Vascular abnormalities in the fingers of patients affected with hereditary hemorrhagic telangiectasia (HHT) as assessed by color doppler sonography