Lista de obras - Marina Colombi - Dominio Público Uruguay

A -96C-->T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa

artículo científico publicado en 2000

A frequent HaeIII RFLP of the human fibronectin gene.

artículo científico publicado en 1987

A pilot study of low-dose subcutaneous alemtuzumab therapy for patients with hemotherapy-refractory chronic lymphocytic leukemia.

artículo científico publicado en 2005

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

Altered fibronectin mRNA splicing in skin fibroblasts from Ehlers-Danlos syndrome patients: in situ hybridization analysis

scientific article published on 01 December 1991

Analysis of risk factors predicting thrombotic and/or haemorrhagic complications in 306 patients with essential thrombocythemia

artículo científico publicado en 2007

Angiokeratoma corporis diffusum and arteriovenous fistulas with dominant transmission in the absence of metabolic disorders

artículo científico publicado en 1995

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

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

scientific article published on 12 December 2019

Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma

artículo científico publicado en 2015

Cerebellar ataxia in a family with recurrent epidermolysis bullosa dystrophica

artículo científico publicado en 1991

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

artículo científico publicado en 2011

Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient.

artículo científico publicado en 2001

Chronic glutamate treatment selectively modulates AMPA RNA editing and ADAR expression and activity in primary cortical neurons.

artículo científico publicado en 2015

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 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, 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 for a novel and a recurrent ABCC6 gene mutation in an Italian family with Pseudoxanthoma elasticum

artículo científico publicado en 2007

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

Correction of the defective extracellular matrix of Ehlers-Danlos syndrome skin fibroblasts by dexamethasone

artículo científico publicado en 1994

De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma

articulo cientifico

Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa

scientific article published on 26 October 2005

Dexamethasone-induced healing of chronic leg ulcers in a patient with defective organization of the extracellular matrix of fibronectin

artículo científico publicado en 2000

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

article

Different phenotypes in recessive dystrophic epidermolysis bullosa patients sharing the same mutation in compound heterozygosity with two novel mutations in the type VII collagen gene

scientific article published on 01 September 2002

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

artículo científico

Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization

scientific article published on 01 October 2006

Effect of dexamethasone on the assembly of the matrix of fibronectin and on its receptors organization in Ehlers-Danlos syndrome skin fibroblasts

artículo científico publicado en 1998

Essential thrombocythemia in pregnancy: report of four cases

scientific article published on 01 July 1994

Exclusion of candidate genes in a family with arterial tortuosity syndrome

artículo científico publicado en 2004

Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia

artículo científico publicado en 1992

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

Expression of transformation markers and suppression of tumorigenicity in human cell hybrids

scientific article published on 01 September 1982

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

Generalized joint hypermobility, joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type.

artículo científico publicado en 2015

Genomic organisation and chromosomal localisation of the gene encoding human beta adducin

artículo científico publicado en 1995

Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa

artículo científico publicado en 2002

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

article

Histological human papillomavirus induced lesions: typization by molecular hybridization techniques

artículo científico publicado en 1992

Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13 ⬇️

artículo científico publicado el 1 de octubre de 2003

Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin

artículo científico publicado en 2004

Human fibronectin gene (FN1) RFLPs: mapping and linkage disequilibrium analysis

scientific article published on 01 December 1993

Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype

artículo científico publicado en 2007

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

Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.

artículo científico publicado en 1996

Immunoglobulin M monoclonal gammopathies of undetermined significance and indolent Waldenstrom's macroglobulinemia recognize the same determinants of evolution into symptomatic lymphoid disorders: proposal for a common prognostic scoring system.

artículo científico publicado en 2005

Ischemic stroke in an adolescent with arterial tortuosity syndrome

artículo científico publicado en 2007

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

Loss of heterozygosity on chromosome 11p13 in primary bladder carcinoma

artículo científico publicado en 1993

Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): principles and proposal for a multidisciplinary approach.

artículo científico publicado en 2012

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

artículo científico publicado en 2019

Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives

scientific article published on 31 July 2020

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

artículo científico publicado en 2012

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance.

artículo científico publicado en 2011

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance

artículo científico publicado en 2011

Mutations in TGFBR2 gene cause spontaneous cervical artery dissection

artículo científico publicado en 2011

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

artículo científico publicado en 2006

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

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

Phenotypic correction of the defective fibronectin extracellular matrix of Ehlers-Danlos syndrome fibroblasts

scientific article published on 01 December 1991

Phosphocaveolin-1 enforces tumor growth and chemoresistance in rhabdomyosarcoma.

artículo científico publicado en 2014

Plasminogen activators in nude mice xenotransplanted with human tumorigenic cells

artículo científico publicado en 1995

Quantitative evaluation of mRNAs by in situ hybridization and image analysis: principles and applications

scientific article published on 01 September 1993

Quantitative in situ hybridization for the evaluation of gene expression in asynchronous and synchronized cell cultures and in tissue sections.

artículo científico publicado en 1999

Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B

artículo científico publicado en 2006

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

Relationship between circulating plasminogen activators and tumor development in mice.

artículo científico publicado en 1986

Relationship between multiple forms of plasminogen activator in human breast tumors and plasma and the presence of metastases in lymph nodes

scientific article published on 01 July 1984

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

Study of conformational properties of a biologically active peptide of fibronectin by circular dichroism, NMR and molecular dynamics simulation.

artículo científico publicado en 2006

Study of fibronectin and mRNA in human laryngeal and ectocervical carcinomas by in situ hybridization and image analysis

scientific article published on 01 July 1992

Study of fibronectin expression in tumour cells by dot-blot and in situ hybridization: quantitative evaluation by image analysis.

artículo científico publicado en 1990

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

Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts

artículo científico publicado en 1999

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

Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome

artículo científico publicado en 2007

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

Wound repair capability in EDS fibroblasts can be retrieved by exogenous type V collagen.

artículo científico publicado en 2008

X-linked reticulate pigmentary disorder with systemic manifestations: a new family and review of the literature

scientific article published on 23 April 2013

Lista de obras de Marina Colombi

A -96C-->T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa

A frequent HaeIII RFLP of the human fibronectin gene.

A pilot study of low-dose subcutaneous alemtuzumab therapy for patients with hemotherapy-refractory chronic lymphocytic leukemia.

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

Altered fibronectin mRNA splicing in skin fibroblasts from Ehlers-Danlos syndrome patients: in situ hybridization analysis

Analysis of risk factors predicting thrombotic and/or haemorrhagic complications in 306 patients with essential thrombocythemia

Angiokeratoma corporis diffusum and arteriovenous fistulas with dominant transmission in the absence of metabolic disorders

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.

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma

Cerebellar ataxia in a family with recurrent epidermolysis bullosa dystrophica

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

Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient.

Chronic glutamate treatment selectively modulates AMPA RNA editing and ADAR expression and activity in primary cortical neurons.

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

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 for a novel and a recurrent ABCC6 gene mutation in an Italian family with Pseudoxanthoma elasticum

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

Correction of the defective extracellular matrix of Ehlers-Danlos syndrome skin fibroblasts by dexamethasone

De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma

Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa

Dexamethasone-induced healing of chronic leg ulcers in a patient with defective organization of the extracellular matrix of fibronectin

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

Different phenotypes in recessive dystrophic epidermolysis bullosa patients sharing the same mutation in compound heterozygosity with two novel mutations in the type VII collagen gene

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

Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization

Effect of dexamethasone on the assembly of the matrix of fibronectin and on its receptors organization in Ehlers-Danlos syndrome skin fibroblasts

Essential thrombocythemia in pregnancy: report of four cases

Exclusion of candidate genes in a family with arterial tortuosity syndrome

Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia

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.

Expression of transformation markers and suppression of tumorigenicity in human cell hybrids

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

Generalized joint hypermobility, joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type.

Genomic organisation and chromosomal localisation of the gene encoding human beta adducin

Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa

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

Histological human papillomavirus induced lesions: typization by molecular hybridization techniques

Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13 ⬇️

Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin

Human fibronectin gene (FN1) RFLPs: mapping and linkage disequilibrium analysis

Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype

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.

Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.

Immunoglobulin M monoclonal gammopathies of undetermined significance and indolent Waldenstrom's macroglobulinemia recognize the same determinants of evolution into symptomatic lymphoid disorders: proposal for a common prognostic scoring system.

Ischemic stroke in an adolescent with arterial tortuosity syndrome

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

Loss of heterozygosity on chromosome 11p13 in primary bladder carcinoma

Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): principles and proposal for a multidisciplinary approach.

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

Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance.

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance

Mutations in TGFBR2 gene cause spontaneous cervical artery dissection

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

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

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

Phenotypic correction of the defective fibronectin extracellular matrix of Ehlers-Danlos syndrome fibroblasts

Phosphocaveolin-1 enforces tumor growth and chemoresistance in rhabdomyosarcoma.

Plasminogen activators in nude mice xenotransplanted with human tumorigenic cells

Quantitative evaluation of mRNAs by in situ hybridization and image analysis: principles and applications

Quantitative in situ hybridization for the evaluation of gene expression in asynchronous and synchronized cell cultures and in tissue sections.

Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B

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

Relationship between circulating plasminogen activators and tumor development in mice.