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List of works by Clair A. Francomano

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

scientific article

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

scientific article

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

scientific article published on 04 July 2020

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

scientific article published on 22 March 2018

Case 47: dural ectasia associated with Marfan syndrome

scientific article published on 01 June 2002

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

scientific article published on 9 November 2017

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 01 January 2006

Ehlers-Danlos syndrome, classical type

scientific article published on 13 February 2017

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

scientific article published on 31 January 2019

Gastrointestinal medication burden among persons with the Ehlers-Danlos syndromes

scientific article published on 03 January 2021

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

scientific article (publication date: 2002)

Growth and integration of neocartilage with native cartilage in vitro

scientific article published in March 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

scientific article published in September 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

scientific article published in October 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

scientific article published on 01 December 2004

Medical genetic studies in the Amish: historical perspective

scientific article

Neurological and spinal manifestations of the Ehlers-Danlos syndromes

scientific article published on 21 February 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

scientific article published on 10 February 2017

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

scientific article

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

scientific article published on 10 January 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

scientific article published on 30 October 2019

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

article

Stickler syndrome: clinical characteristics and diagnostic criteria

scientific article published on 01 October 2005

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

scientific article

Survey of Ehlers-Danlos Patients' ophthalmic surgery experiences

scientific article published on 27 January 2020

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

scientific article

The 2017 international classification of the Ehlers-Danlos syndromes

scientific article published on March 2017

The Ehlers-Danlos syndromes

scientific article published on 30 July 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.

scientific article

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

scientific article

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

scientific article published on 01 November 2002

The international consortium on the Ehlers-Danlos syndromes

scientific article published in March 2017

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

scientific article published in August 2003

The mutational spectrum of brachydactyly type C

article

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

scientific article published on 31 May 2019

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

scientific article published on 09 January 2019

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