Lista de obras - Guglielmina Pepe - Dominio Público Uruguay

A Major Involvement of the Cardiovascular System in Patients Affected by Marfan Syndrome: Novel Mutations in Fibrillin 1 Gene

article

A gene conversion hotspot in the human growth hormone (GH1) gene promoter

artículo científico publicado en 2009

A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy

artículo científico publicado en 1999

A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.

artículo científico publicado en 2005

A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen

article

A single heterozygous nucleotide substitution displays two different altered mechanisms in the FBN1 gene of five Italian marfan patients

article

ACE and TGFBR1 genes interact in influencing the susceptibility to abdominal aortic aneurysm

artículo científico publicado en 2008

AGT and ACE genes influence classic mitral valve prolapse predisposition in Marfan patients

article

Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency

artículo científico publicado en 2005

Analysis of three RFLPs of the COL1A2 (Type I Collagen) in the Amhara and the Oromo of Ethiopia.

artículo científico publicado en 2002

Angiotensin-converting enzyme DD genotype, angiotensin type 1 receptor CC genotype, and hyperhomocysteinemia increase first-trimester fetal-loss susceptibility

scientific article published on 01 October 2000

Association of Marfan syndrome and bicuspid aortic valve: Frequency and outcome

Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands

artículo científico publicado en 2002

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

artículo científico publicado en 2002

COL1A2 (type I collagen) polymorphisms in the Colorado Indians of Ecuador

artículo científico publicado en 2005

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy

artículo científico publicado en 2006

Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts

article

Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy

artículo científico publicado en 2002

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy

article

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

artículo científico publicado en 2007

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

artículo científico publicado en 2005

Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis

artículo científico publicado en 2013

Effect of Temperature and Incubation Time on D-Dimer Serum Levels in Healthy Subjects

artículo científico publicado en 2000

Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of ThreeCOL6A2Mutations in Two Families with Ullrich Congenital Muscular Dystrophy

artículo científico publicado en 2002

Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen

artículo científico publicado en 1986

Evidence for oxidative stress in plasma of patients with Marfan syndrome

artículo científico publicado en 2010

FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.

artículo científico publicado en 2008

Factor II 20210 G-->A polymorphism associated to factor V Leiden: a report of two thrombophilic families.

artículo científico publicado en 1998

Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation.

artículo científico publicado en 2001

Fibroblast autofluorescence in connective tissue disorders: a future tool for clinical and differential diagnosis?

artículo científico publicado en 2008

Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African population

artículo científico publicado en 2008

Heterogeneity in world distribution of the thermolabile C677T mutation in 5,10-methylenetetrahydrofolate reductase.

artículo científico publicado en 1998

High prevalence of mild hyperhomocysteinemia in patients with abdominal aortic aneurysm

scientific article published on 01 September 2000

Hyperhomocysteinemia in renal transplant patients as independent cause of endothelial damage and cardiovascular disease.

artículo científico publicado en 2001

Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome

artículo científico publicado en 2014

May TGFBR1 act also as low penetrance allele in Marfan syndrome?

scientific article published on 22 October 2007

Microheterogeneity in the Distribution of the 844ins68 in the Cystathionine β-Synthase Gene in Italy

article

Multiple primary tumors of the upper aerodigestive tract: is there a role for constitutional mutations in the p53 gene?

artículo científico publicado en 1999

Muscle MRI findings in a three-generation family affected by Bethlem myopathy

scientific article published on 01 January 2002

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy

artículo científico publicado en 2005

Mutational spectrum of the CTNS gene in Italy

artículo científico publicado en 2003

Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy

artículo científico publicado en 2002

PPARgamma promoter polymorphisms and acute coronary syndrome.

artículo científico publicado en 2008

Paradigm shifts in aortic pathology: clinical and therapeutic implications. Clinical imaging in chronic and acute aortic syndromes. The aorta as a cause of cardiac disease

artículo científico publicado en 2014

Pectus Excavatum and MASS Phenotype: An Unknown Association

artículo científico publicado en 2012

Plasma and serum levels of D-dimer and their correlations with other hemostatic parameters in pregnancy

scientific article published on 01 February 2002

Polymorphisms of the COL1A2, CYP1A1 and HS1,2 Ig enhancer genes in the Tuaregs from Libya

artículo científico publicado en 2007

Rheumatoid arthritis

Role of lipoprotein (a) and LPA KIV2 repeat polymorphism in bicuspid aortic valve stenosis and calcification: a proof of concept study

artículo científico publicado en 2018

Role of platelet glycoprotein PLA1/A2 polymorphism in restenosis after percutaneous transluminal coronary angioplasty

artículo científico publicado en 1998

Searching for a better assessment of the individual coronary risk profile. The role of angiotensin-converting enzyme, angiotensin II type 1 receptor and angiotensinogen gene polymorphisms

article

The C677T methylenetetrahydrofolate reductase mutation is not associated with Alzheimer's disease.

artículo científico publicado en 2001

The influence of smoking on von Willebrand factor is already manifest in healthy adolescent females: the Floren-teen (Florence Teenager) Study

artículo científico publicado en 1999

The role of cysteine and homocysteine in venous and arterial thrombotic disease.

artículo científico publicado en 2001

Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis

artículo científico publicado en 2007

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

artículo científico publicado en 2001

Vascular and connective tissue features in 5 Italian patients with homocystinuria.

artículo científico publicado en 2008

When should a rare inherited connective tissue disorder be suspected in bicuspid aortic valve by primary-care internists and cardiologists? Proposal of a score

scientific article published on 19 September 2020

[Paradigm shifts in aortic pathology: clinical and therapeutic implications. Biology and pathology of the aortic wall]

scientific article published on 01 February 2013

Lista de obras de Guglielmina Pepe

A Major Involvement of the Cardiovascular System in Patients Affected by Marfan Syndrome: Novel Mutations in Fibrillin 1 Gene

A gene conversion hotspot in the human growth hormone (GH1) gene promoter

A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy

A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.

A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen

A single heterozygous nucleotide substitution displays two different altered mechanisms in the FBN1 gene of five Italian marfan patients

ACE and TGFBR1 genes interact in influencing the susceptibility to abdominal aortic aneurysm

AGT and ACE genes influence classic mitral valve prolapse predisposition in Marfan patients

Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency

Analysis of three RFLPs of the COL1A2 (Type I Collagen) in the Amhara and the Oromo of Ethiopia.

Angiotensin-converting enzyme DD genotype, angiotensin type 1 receptor CC genotype, and hyperhomocysteinemia increase first-trimester fetal-loss susceptibility

Association of Marfan syndrome and bicuspid aortic valve: Frequency and outcome

Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

COL1A2 (type I collagen) polymorphisms in the Colorado Indians of Ecuador

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy

Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts

Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis

Effect of Temperature and Incubation Time on D-Dimer Serum Levels in Healthy Subjects

Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of ThreeCOL6A2Mutations in Two Families with Ullrich Congenital Muscular Dystrophy

Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen

Evidence for oxidative stress in plasma of patients with Marfan syndrome

FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.

Factor II 20210 G-->A polymorphism associated to factor V Leiden: a report of two thrombophilic families.

Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation.

Fibroblast autofluorescence in connective tissue disorders: a future tool for clinical and differential diagnosis?

Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African population

Heterogeneity in world distribution of the thermolabile C677T mutation in 5,10-methylenetetrahydrofolate reductase.

High prevalence of mild hyperhomocysteinemia in patients with abdominal aortic aneurysm

Hyperhomocysteinemia in renal transplant patients as independent cause of endothelial damage and cardiovascular disease.

Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome

May TGFBR1 act also as low penetrance allele in Marfan syndrome?

Microheterogeneity in the Distribution of the 844ins68 in the Cystathionine β-Synthase Gene in Italy

Multiple primary tumors of the upper aerodigestive tract: is there a role for constitutional mutations in the p53 gene?

Muscle MRI findings in a three-generation family affected by Bethlem myopathy

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy

Mutational spectrum of the CTNS gene in Italy

Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy

PPARgamma promoter polymorphisms and acute coronary syndrome.

Paradigm shifts in aortic pathology: clinical and therapeutic implications. Clinical imaging in chronic and acute aortic syndromes. The aorta as a cause of cardiac disease

Pectus Excavatum and MASS Phenotype: An Unknown Association

Plasma and serum levels of D-dimer and their correlations with other hemostatic parameters in pregnancy

Polymorphisms of the COL1A2, CYP1A1 and HS1,2 Ig enhancer genes in the Tuaregs from Libya

Rheumatoid arthritis

Role of lipoprotein (a) and LPA KIV2 repeat polymorphism in bicuspid aortic valve stenosis and calcification: a proof of concept study

Role of platelet glycoprotein PLA1/A2 polymorphism in restenosis after percutaneous transluminal coronary angioplasty

Searching for a better assessment of the individual coronary risk profile. The role of angiotensin-converting enzyme, angiotensin II type 1 receptor and angiotensinogen gene polymorphisms

The C677T methylenetetrahydrofolate reductase mutation is not associated with Alzheimer's disease.

The influence of smoking on von Willebrand factor is already manifest in healthy adolescent females: the Floren-teen (Florence Teenager) Study

The role of cysteine and homocysteine in venous and arterial thrombotic disease.

Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

Vascular and connective tissue features in 5 Italian patients with homocystinuria.

When should a rare inherited connective tissue disorder be suspected in bicuspid aortic valve by primary-care internists and cardiologists? Proposal of a score

[Paradigm shifts in aortic pathology: clinical and therapeutic implications. Biology and pathology of the aortic wall]