Lista de obras - Marco Ritelli - Dominio Público Uruguay

A Novel Homozygous SLC2A9 Mutation Associated with Renal-Induced Hypouricemia.

artículo científico publicado en 2016

A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.

artículo científico publicado en 2017

A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder

artículo científico publicado en 2018

A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations

artículo científico publicado en 2017

Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients

artículo científico publicado en 2019

Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene

article

Alcohol intake and the risk of intracerebral hemorrhage in the elderly: The MUCH-Italy

artículo científico publicado en 2018

Anticoagulants Resumption after Warfarin-Related Intracerebral Haemorrhage: The Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy).

artículo científico publicado en 2018

Antithrombotic medications and the etiology of intracerebral hemorrhage: MUCH-Italy.

artículo científico publicado en 2014

Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder

artículo científico publicado en 2015

Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology

artículo científico publicado en 2019

Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.

artículo científico publicado en 2014

Arterial tortuosity in patients with spontaneous cervical artery dissection.

artículo científico publicado en 2017

COL6A5 variants in familial neuropathic chronic itch.

artículo científico publicado en 2017

Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes

artículo científico publicado en 2019

Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio.

artículo científico publicado en 2011

Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity

artículo científico publicado en 2017

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

scientific article published on 01 November 2019

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

scientific article published on 25 October 2019

Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing.

artículo científico publicado en 2017

Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review

artículo científico publicado en 2019

Clinical variability in two Macedonian families with Arterial tortuosity syndrome

artículo científico publicado en 2018

Clinical, neuroradiological and molecular features of a patient affected by pseudoxhantoma elasticum associated to carotid rete mirabile: case report.

artículo científico publicado en 2012

Complications of acute stroke and the occurrence of early seizures.

artículo científico publicado en 2013

Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa.

artículo científico publicado en 2013

Connective tissue anomalies in patients with spontaneous cervical artery dissection

artículo científico publicado en 2014

Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.

artículo científico publicado en 2016

Dermal fibroblast-to-myofibroblast transition sustained by αvß3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

artículo científico publicado en 2018

Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations

article

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

artículo científico

Effects of IFN-alpha on the inflammatory response of swine leukocytes to bacterial endotoxin.

artículo científico publicado en 2005

Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.

artículo científico publicado en 2016

Erratum to “Letter to the Editor – Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations” [J. Dermatol. Sci. 64 (2011) 237–248]

article

Expanding the Clinical and Mutational Spectrum of Recessive -Related Classical-Like Ehlers-Danlos Syndrome

article

Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa

artículo científico publicado en 2020

Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.

artículo científico publicado en 2017

Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes

scientific article published on 21 August 2019

Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review

artículo científico publicado en 2016

Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.

artículo científico publicado en 2014

GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS.

artículo científico publicado en 2018

GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts

artículo científico publicado en 2015

GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts

artículo científico publicado en 2017

Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport.

artículo científico publicado en 2016

Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients

article

Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing

artículo científico publicado en 2020

Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing

artículo científico publicado en 2014

Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.

artículo científico publicado en 2014

Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review

artículo científico publicado en 2016

Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain

artículo científico publicado en 2013

Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review

artículo científico publicado en 2016

Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts

artículo científico publicado en 2019

Multifaced Roles of the αvβ3 Integrin in Ehlers-Danlos and Arterial Tortuosity Syndromes' Dermal Fibroblasts

artículo científico publicado en 2018

Mutations in TGFBR2 gene cause spontaneous cervical artery dissection

artículo científico publicado en 2011

Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigrees

article

Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome

artículo científico publicado en 2019

Obesity and the risk of intracerebral hemorrhage: the multicenter study on cerebral hemorrhage in Italy

artículo científico publicado en 2013

Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome

article

Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity

artículo científico publicado en 2014

Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type

artículo científico publicado en 2013

Risk Profile of Symptomatic Lacunar Stroke Versus Nonlobar Intracerebral Hemorrhage.

artículo científico publicado en 2016

Serum cholesterol levels, HMG-CoA reductase inhibitors and the risk of intracerebral haemorrhage. The Multicenter Study on Cerebral Haemorrhage in Italy (MUCH-Italy).

artículo científico publicado en 2016

Skeletal fragility: an emerging complication of Ehlers-Danlos syndrome

artículo científico publicado en 2018

Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type

artículo científico publicado en 2015

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.

artículo científico publicado en 2017

Spontaneous coronary artery dissection in a young woman with Loeys-Dietz syndrome

scientific article published on 09 April 2012

TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis

scientific article published on 27 June 2019

The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682+1G>A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa

artículo científico publicado en 2008

Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype

article published in 2013

Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.

artículo científico publicado en 2018

Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type

artículo científico publicado en 2016

Type III and V collagens modulate the expression and assembly of EDA(+) fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts.

artículo científico publicado en 2012

Lista de obras de Marco Ritelli

A Novel Homozygous SLC2A9 Mutation Associated with Renal-Induced Hypouricemia.

A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.

A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder

A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations

Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients

Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene

Alcohol intake and the risk of intracerebral hemorrhage in the elderly: The MUCH-Italy

Anticoagulants Resumption after Warfarin-Related Intracerebral Haemorrhage: The Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy).

Antithrombotic medications and the etiology of intracerebral hemorrhage: MUCH-Italy.

Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder

Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology

Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.

Arterial tortuosity in patients with spontaneous cervical artery dissection.

COL6A5 variants in familial neuropathic chronic itch.

Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes

Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio.

Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing.

Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review

Clinical variability in two Macedonian families with Arterial tortuosity syndrome

Clinical, neuroradiological and molecular features of a patient affected by pseudoxhantoma elasticum associated to carotid rete mirabile: case report.

Complications of acute stroke and the occurrence of early seizures.

Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa.

Connective tissue anomalies in patients with spontaneous cervical artery dissection

Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.

Dermal fibroblast-to-myofibroblast transition sustained by αvß3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

Effects of IFN-alpha on the inflammatory response of swine leukocytes to bacterial endotoxin.

Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.

Erratum to “Letter to the Editor – Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations” [J. Dermatol. Sci. 64 (2011) 237–248]

Expanding the Clinical and Mutational Spectrum of Recessive -Related Classical-Like Ehlers-Danlos Syndrome

Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa

Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.

Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes

Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review

Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.

GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS.

GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts

GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts

Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport.

Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients

Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing

Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing

Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.

Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review

Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain

Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review

Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts

Multifaced Roles of the αvβ3 Integrin in Ehlers-Danlos and Arterial Tortuosity Syndromes' Dermal Fibroblasts

Mutations in TGFBR2 gene cause spontaneous cervical artery dissection

Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigrees

Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome

Obesity and the risk of intracerebral hemorrhage: the multicenter study on cerebral hemorrhage in Italy

Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome

Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity

Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type

Risk Profile of Symptomatic Lacunar Stroke Versus Nonlobar Intracerebral Hemorrhage.

Serum cholesterol levels, HMG-CoA reductase inhibitors and the risk of intracerebral haemorrhage. The Multicenter Study on Cerebral Haemorrhage in Italy (MUCH-Italy).

Skeletal fragility: an emerging complication of Ehlers-Danlos syndrome

Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.

Spontaneous coronary artery dissection in a young woman with Loeys-Dietz syndrome

TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis

The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682+1G>A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa

Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype

Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.

Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type

Type III and V collagens modulate the expression and assembly of EDA(+) fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts.