Lista de obras - Clair A. Francomano - Dominio Público Uruguay

A central nervous system specific mouse model for thanatophoric dysplasia type II.

artículo científico publicado en 2003

Arterial Elasticity in Ehlers-Danlos Syndromes

scientific article published on 04 January 2020

Association of Chiari malformation type I and tethered cord syndrome: preliminary results of sectioning filum terminale

artículo científico publicado en 2009

Atlanto-axial rotary instability (Fielding type 1): characteristic clinical and radiological findings, and treatment outcomes following alignment, fusion, and stabilization

artículo científico publicado en 2020

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

artículo científico publicado en 2018

Case 47: dural ectasia associated with Marfan syndrome

artículo científico publicado en 2002

Characteristics, Diagnosis, and Management of Ehlers-Danlos Syndromes: A Review

artículo científico publicado en 2017

Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF-β expression and connective tissue features

artículo científico publicado en 2014

Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report

artículo científico publicado en 2003

Complementary medicine and genetic medicine: polar disciplines or dynamic partners?

artículo científico publicado en 2005

Consensus clinical management guidelines for Alström syndrome

scientific article published on 21 September 2020

Defining renal phenotype in Alström syndrome

article

Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes

artículo científico publicado en 2006

Ehlers-Danlos syndrome, classical type

artículo científico publicado en 2017

Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders

artículo científico publicado en 2019

Gastrointestinal medication burden among persons with the Ehlers-Danlos syndromes

artículo científico publicado en 2021

Gene expression profile of human bone marrow stromal cells: high-throughput expressed sequence tag sequencing analysis

artículo científico publicado en 2002

Growth and integration of neocartilage with native cartilage in vitro

artículo científico publicado en 2005

Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization

article published in 2019

Hyaline cartilage engineered by chondrocytes in pellet culture: histological, immunohistochemical and ultrastructural analysis in comparison with cartilage explants

artículo científico publicado en 2004

Issues surrounding prenatal genetic testing for achondroplasia

scientific article published on 01 October 2002

Klotho gene variation and expression in 20 inbred mouse strains

artículo científico publicado en 2004

Letter to the editor regarding "Atlantoaxial dislocation due to os odontoideum in patients with Down's syndrome: literature review and case reports"

scientific article published on 17 September 2020

Living with achondroplasia: quality of life evaluation following cervico-medullary decompression

artículo científico publicado en 2004

Medical genetic studies in the Amish: historical perspective

artículo científico publicado en 2003

Neurological and spinal manifestations of the Ehlers-Danlos syndromes

artículo científico publicado en 2017

Pain and sleep quality in children with non-vascular Ehlers-Danlos syndromes

scientific article published on 04 September 2018

Pain management in the Ehlers-Danlos syndromes

artículo científico publicado en 2017

Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome.

artículo científico publicado en 2018

Prevalence of hypermobile Ehlers-Danlos syndrome in postural orthostatic tachycardia syndrome

artículo científico publicado en 2020

Report from the Maryland epidemiology schizophrenia linkage study: No evidence for linkage between schizophrenia and a number of candidate and other genomic regions using a complex dominant model

article

Resistance to local anesthesia in people with the Ehlers-Danlos Syndromes presenting for dental surgery

artículo científico publicado en 2019

Small deletions in the type II collagen triple helix produce Kniest dysplasia

artículo científico publicado en 1999

Stickler syndrome: clinical characteristics and diagnostic criteria

artículo científico publicado en 2005

Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia

artículo científico publicado en 2002

Survey of Ehlers-Danlos Patients' ophthalmic surgery experiences

artículo científico publicado en 2020

Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and Chiari malformation Type I in patients with hereditary disorders of connective tissue

artículo científico publicado en 2007

The 2017 international classification of the Ehlers-Danlos syndromes

artículo científico publicado en 2017

The Ehlers-Danlos syndromes

artículo científico publicado en 2020

The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.

artículo científico publicado en 2003

The effects of pulsed low-intensity ultrasound on chondrocyte viability, proliferation, gene expression and matrix production.

artículo científico publicado en 2003

The influence of pulsed low-intensity ultrasound on matrix production of chondrocytes at different stages of differentiation: an explant study

artículo científico publicado en 2002

The international consortium on the Ehlers-Danlos syndromes

artículo científico publicado en 2017

The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases

artículo científico publicado en 2003

The mutational spectrum of brachydactyly type C

article

Use of Cluster Analysis to Delineate Symptom Profiles in an Ehlers-Danlos Syndrome Patient Population

artículo científico publicado en 2019

Use of prescription opioid and other drugs among a cohort of persons with Ehlers-Danlos syndrome: A retrospective study

artículo científico publicado en 2019

Lista de obras de Clair A. Francomano

A central nervous system specific mouse model for thanatophoric dysplasia type II.

Arterial Elasticity in Ehlers-Danlos Syndromes

Association of Chiari malformation type I and tethered cord syndrome: preliminary results of sectioning filum terminale

Atlanto-axial rotary instability (Fielding type 1): characteristic clinical and radiological findings, and treatment outcomes following alignment, fusion, and stabilization

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

Case 47: dural ectasia associated with Marfan syndrome

Characteristics, Diagnosis, and Management of Ehlers-Danlos Syndromes: A Review

Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF-β expression and connective tissue features

Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report

Complementary medicine and genetic medicine: polar disciplines or dynamic partners?

Consensus clinical management guidelines for Alström syndrome

Defining renal phenotype in Alström syndrome

Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes

Ehlers-Danlos syndrome, classical type

Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders

Gastrointestinal medication burden among persons with the Ehlers-Danlos syndromes

Gene expression profile of human bone marrow stromal cells: high-throughput expressed sequence tag sequencing analysis

Growth and integration of neocartilage with native cartilage in vitro

Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization

Hyaline cartilage engineered by chondrocytes in pellet culture: histological, immunohistochemical and ultrastructural analysis in comparison with cartilage explants

Issues surrounding prenatal genetic testing for achondroplasia

Klotho gene variation and expression in 20 inbred mouse strains

Letter to the editor regarding "Atlantoaxial dislocation due to os odontoideum in patients with Down's syndrome: literature review and case reports"

Living with achondroplasia: quality of life evaluation following cervico-medullary decompression

Medical genetic studies in the Amish: historical perspective

Neurological and spinal manifestations of the Ehlers-Danlos syndromes

Pain and sleep quality in children with non-vascular Ehlers-Danlos syndromes

Pain management in the Ehlers-Danlos syndromes

Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome.

Prevalence of hypermobile Ehlers-Danlos syndrome in postural orthostatic tachycardia syndrome

Report from the Maryland epidemiology schizophrenia linkage study: No evidence for linkage between schizophrenia and a number of candidate and other genomic regions using a complex dominant model

Resistance to local anesthesia in people with the Ehlers-Danlos Syndromes presenting for dental surgery

Small deletions in the type II collagen triple helix produce Kniest dysplasia

Stickler syndrome: clinical characteristics and diagnostic criteria

Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia

Survey of Ehlers-Danlos Patients' ophthalmic surgery experiences

Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and Chiari malformation Type I in patients with hereditary disorders of connective tissue

The 2017 international classification of the Ehlers-Danlos syndromes

The Ehlers-Danlos syndromes

The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.

The effects of pulsed low-intensity ultrasound on chondrocyte viability, proliferation, gene expression and matrix production.

The influence of pulsed low-intensity ultrasound on matrix production of chondrocytes at different stages of differentiation: an explant study

The international consortium on the Ehlers-Danlos syndromes

The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases

The mutational spectrum of brachydactyly type C

Use of Cluster Analysis to Delineate Symptom Profiles in an Ehlers-Danlos Syndrome Patient Population

Use of prescription opioid and other drugs among a cohort of persons with Ehlers-Danlos syndrome: A retrospective study