Molecular nosology of heritable disorders of connective tissue (original) (raw)
Related papers
International nosology of heritable disorders of connective tissue, Berlin, 1986
American Journal of Medical Genetics, 1988
HERITABLE COLLAGEN DISORDERS: FROM GENOTYPE TO PHENOTYPE 1
Acta Clinica Belgica, 2001
Molecular Abnormalities of Collagen: A Review
Journal of the Royal Society of Medicine, 1983
Journal of Investigative Dermatology, 1982
Journal of Medical Genetics, 1987
The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations
Rebekah Jobling, Roberto Mendoza-londono
Current Rheumatology Reports, 2013
Skin is a window on heritable disorders of connective tissue
American Journal of Medical Genetics, 1989
Heritable Disorders of Connective Tissue
Annals of Internal Medicine, 1973
Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21 → q22
Genomics, 1992
Next generation diagnostics of heritable connective tissue disorders
Collagen VI A-domain changes: Mutations or polymorphisms?
Matrix Biology, 2008
Natural variation in four human collagen genes across an ethnically diverse population
Genomics, 2008
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
Original article , 2016
Hereditary disorders of connective tissue: A guide to the emerging differential diagnosis
Genetics in Medicine, 2010
Enigmatic insight into collagen
Journal of Oral and Maxillofacial Pathology, 2016
Clinical and molecular overlap between myopathies and inherited connective tissue diseases
Neuromuscular Disorders, 2008
Mutations in Collagen Genes in the Context of an Isolated Population
2020
Analysis of human collagen sequences
Bioinformation, 2012
Major rearrangements in the α5(IV) collagen gene in three patients with alport syndrome
Genomics, 1991
Isolation and Characterization of the Human Fibrillar Collagen Genes
Annals of the New York Academy of Sciences, 1985
Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene
Leena Ala-kokko, Carlos Bacino
The American Journal of Human Genetics, 2010
Mutations in collagen 18A1 (COL18A1) and their relevance to the human phenotype
Anais da Academia Brasileira de Ciências, 2006
Isolation and Characterization of the Human Fibrillar Collagen Genesa
Annals of the New York Academy of Sciences, 1985
The American Journal of Human Genetics, 1998
Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update
European Journal of Radiology, 1992
Acquired and heritable defects in collagen synthesis and fibrogenesis
Transactions of the American Clinical and Climatological Association, 1974
Cutaneous signs in heritable disorders of the connective tissue
Indian journal of dermatology, venereology and leprology
Matrix Biology, 2001
European Journal of Biochemistry, 1989
The Stickler syndrome: Evidence for close linkage to the structural gene for type II collagen
Genomics, 1987