Now showing items 21-30 of 500
Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: Identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis
(ELSEVIER SCIENCE BV, 2008)
We present clinical and molecular evaluation from a large cohort of patients with Stickler syndrome: 78 individuals from 21 unrelated Brazilian families. The patients were selected in a Hospital with a craniofacial ...
An??lise do polimorfismo e da express??o de genes de reparo tecidual na leishmaniose tegumentar americana causada pela infec????o por Leishmania braziliensis
(Faculdade de Medicinaem Ci??ncias da Sa??deUFBAbrasil, 2017-03-23)
Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene
(LIPPINCOTT WILLIAMS & WILKINS, 2008)
Bone Deposition, Bone Resorption, and Osteosarcoma
(JOHN WILEY & SONS INC, 2010)
Bone deposition and bone resorption are ongoing dynamic processes, constituting bone remodeling. Some bone tumors, such as osteosarcoma (OS), stimulate focal bone deposition. OS is the most common primary bone tumor in ...
Análise molecular e funcional dos genes formadores e reguladores do colágeno tipo I em pacientes com osteogênese imperfeita = Molecular and functional analysis of regulatory and structure-related genes of type I collagen in patients with osteogenesis imperfectaMolecular and functional analysis of regulatory and structure-related genes of type I collagen in patients with osteogenesis imperfecta
Ehlers-Danlos syndrome type IV and multiple aortic aneurysms - A case report
(Westminster Publ IncGlen HeadEUA, 2001)
Knobloch syndrome in a patient from Chile
Knobloch Syndrome (KS) is a rare autosomal recessive hereditary disease. Despite its clinical heterogeneity, it is characterized by vitreoretinal degeneration and high myopia, with or without occipital skull defects. It ...
Recessive COL6A2 C-globular Missense Mutations in Ullrich Congenital Muscular Dystrophy ROLE OF THE C2a SPLICE VARIANT
(AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC, 2010)
Ullrich congenital muscular dystrophy (UCMD) is a disabling and life-threatening disorder resulting from either recessive or dominant mutations in genes encoding collagen VI. Although the majority of the recessive UCMD ...