Thomas Jefferson University

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Uitto, Jouni
One or more keywords matched the following items that are connected to Uitto, Jouni
Item TypeName
Concept Congenital Abnormalities
Concept Abnormalities, Multiple
Concept Vestibulocochlear Nerve Diseases
Concept Acrodermatitis
Concept Alopecia
Concept Angioid Streaks
Concept Asthma
Concept Autoimmune Diseases
Concept Blister
Concept Calcinosis
Concept Carcinoma, Squamous Cell
Concept Cell Transformation, Neoplastic
Concept Chromosome Aberrations
Concept Conjunctivitis
Concept Cutis Laxa
Concept Deafness
Concept Dental Enamel Hypoplasia
Concept Dermatitis, Atopic
Concept Digestive System Abnormalities
Concept Disease Models, Animal
Concept Ectodermal Dysplasia
Concept Ehlers-Danlos Syndrome
Concept Epidermolysis Bullosa
Concept Erythema
Concept Fibrosis
Concept Gingivitis
Concept Glomerulonephritis
Concept Hearing Loss, Sensorineural
Concept Heart Defects, Congenital
Concept Carcinoma, Hepatocellular
Concept Hypersensitivity
Concept Hypertrichosis
Concept Hypotrichosis
Concept Ichthyosis
Concept Inflammation
Concept Joint Instability
Concept Keloid
Concept Keratitis
Concept Keratosis
Concept Keratoderma, Palmoplantar
Concept Lipoid Proteinosis of Urbach and Wiethe
Concept Metabolic Diseases
Concept Muscular Dystrophies
Concept Nail Diseases
Concept Neoplasm Invasiveness
Concept Neoplasm Metastasis
Concept Neoplasms
Concept Nephrotic Syndrome
Concept Nervous System Malformations
Concept Nevus
Concept Ossification, Heterotopic
Concept Pemphigoid, Bullous
Concept Pemphigus
Concept Pigmentation Disorders
Concept Pityriasis Rubra Pilaris
Concept Progeria
Concept Proteinuria
Concept Pseudoxanthoma Elasticum
Concept Psoriasis
Concept Skin Abnormalities
Concept Skin Diseases
Concept Skin Diseases, Vesiculobullous
Concept Skin Diseases, Genetic
Concept Skin Neoplasms
Concept Skin Ulcer
Concept Syndrome
Concept Tooth Abnormalities
Concept Tryptophan
Concept Vitamin K Deficiency
Concept Vitiligo
Concept Autoimmunity
Concept Skin Aging
Concept Epidermolysis Bullosa Dystrophica
Concept Epidermolysis Bullosa, Junctional
Concept Epidermolysis Bullosa Simplex
Concept Peripheral Vascular Diseases
Concept Pemphigus, Benign Familial
Concept Skin Diseases, Bacterial
Concept Sequence Deletion
Concept Hyperkeratosis, Epidermolytic
Concept Ichthyosis, Lamellar
Concept Hyperpigmentation
Concept Fatal Outcome
Concept Oxidative Stress
Concept Coagulation Protein Disorders
Concept Stroke
Concept Genetic Diseases, Inborn
Concept Keratoderma, Palmoplantar, Epidermolytic
Concept Hyperphosphatemia
Concept Hyalinosis, Systemic
Concept Vascular Calcification
Academic Article Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders - can diet help?
Academic Article Novel molecular therapies for heritable skin disorders.
Academic Article Milestones in genetics of structural skin disorders.
Academic Article Heritable ectopic mineralization disorders: the paradigm of pseudoxanthoma elasticum.
Academic Article Epidermolysis Bullosa Simplex with mottled pigmentation: mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to date.
Academic Article Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene.
Academic Article Ectopic mineralization disorders of the extracellular matrix of connective tissue: molecular genetics and pathomechanisms of aberrant calcification.
Academic Article Heritable disorders of connective tissue: introduction to mini-review cluster.
Academic Article Milestones in Genetics of Structural Skin Disorders.
Academic Article Heritable Ectopic Mineralization Disorders: The Paradigm of Pseudoxanthoma Elasticum.
Academic Article Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders.
Academic Article Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the PXE International Biennial Research Symposium-2016.
Academic Article Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic Versus Non-Syndromic Skin Fragility Disorders.
Academic Article Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development.
Academic Article Adenovirus-mediated ABCC6 Gene Therapy for Heritable Ectopic Mineralization Disorders.
Academic Article Heritable Ectopic Mineralization Disorders: Pathomechanisms and Potential Treatment.
Academic Article Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica.
Academic Article Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.
Academic Article Research Techniques Made Simple: Whole-Transcriptome Sequencing by RNA-Seq for Diagnosis of Monogenic Disorders.
Academic Article Therapeutics Development for Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders: Update 2020.
Academic Article Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity.
Academic Article The utility of dermal fibroblasts in treatment of skin disorders: A paradigm of recessive dystrophic epidermolysis bullosa.
Academic Article Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.
Academic Article ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
Search Criteria
  • Mendelian
  • Disorders