The 2017 international classification of the Ehlers–Danlos syndromes
2017· article· en· American Journal of Medical Genetics Part C Seminars in Medical Genetics· Biochemistry, Genetics and Molecular Biology
aff
1,878
citations
Works
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1,331 workspage 1 of 54
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
2005· article· en· Nature Genetics· Biochemistry, Genetics and Molecular Biology
affno abstract
1,778
citations
Osteogenesis imperfecta
2004· article· en· The Lancet· Biochemistry, Genetics and Molecular Biology
affno abstract
1,171
citations
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
2006· review· en· Human Mutation· Biochemistry, Genetics and Molecular Biology
aff
772
citations
Osteogenesis imperfecta
2017· review· en· Nature Reviews Disease Primers· Biochemistry, Genetics and Molecular Biology
affno abstract
758
citations
Fibulin-5/DANCE is essential for elastogenesis in vivo
2002· article· en· Nature· Biochemistry, Genetics and Molecular Biology
affno abstract
625
citations
Nosology and classification of genetic skeletal disorders: 2019 revision
2019· article· en· American Journal of Medical Genetics Part A· Biochemistry, Genetics and Molecular Biology
fundno aff
608
citations
Loeys–Dietz syndrome: a primer for diagnosis and management
2014· review· en· Genetics in Medicine· Biochemistry, Genetics and Molecular Biology
aff
579
citations
CRTAP Is Required for Prolyl 3- Hydroxylation and Mutations Cause Recessive Osteogenesis Imperfecta
2006· article· en· Cell· Biochemistry, Genetics and Molecular Biology
affno abstract
530
citations
Atenolol versus Losartan in Children and Young Adults with Marfan's Syndrome
2014· article· en· New England Journal of Medicine· Biochemistry, Genetics and Molecular Biology
aff
522
citations
Type V Osteogenesis Imperfecta: A New Form of Brittle Bone Disease
2000· article· en· Journal of Bone and Mineral Research· Biochemistry, Genetics and Molecular Biology
aff
517
citations
Osteogenesis Imperfecta Type VI: A Form of Brittle Bone Disease with a Mineralization Defect
2002· article· en· Journal of Bone and Mineral Research· Biochemistry, Genetics and Molecular Biology
aff
444
citations
The molecular genetics of Marfan syndrome and related disorders
2006· review· en· Journal of Medical Genetics· Biochemistry, Genetics and Molecular Biology
afffund
431
citations
Proline and Glycine Control Protein Self-Organization into Elastomeric or Amyloid Fibrils
2006· article· en· Structure· Biochemistry, Genetics and Molecular Biology
afffundno abstract
378
citations
Molecular assembly and mechanical properties of the extracellular matrix: A fibrous protein perspective
2012· review· en· Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease· Biochemistry, Genetics and Molecular Biology
afffundno abstract
378
citations
Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux
2004· article· en· The American Journal of Human Genetics· Biochemistry, Genetics and Molecular Biology
affno abstract
367
citations
WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
2013· article· en· New England Journal of Medicine· Biochemistry, Genetics and Molecular Biology
afffund
356
citations
Cellular and molecular mechanisms of thoracic aortic aneurysms
2009· review· en· Nature Reviews Cardiology· Biochemistry, Genetics and Molecular Biology
fundno affno abstract
332
citations
Elastin, arterial mechanics, and cardiovascular disease
2018· review· en· American Journal of Physiology-Heart and Circulatory Physiology· Biochemistry, Genetics and Molecular Biology
aff
329
citations
Elastin biosynthesis: The missing link in tissue-engineered blood vessels
2006· review· en· Cardiovascular Research· Biochemistry, Genetics and Molecular Biology
aff
327
citations
Static and dynamic bone histomorphometry in children with osteogenesis imperfecta
2000· article· en· Bone· Biochemistry, Genetics and Molecular Biology
affno abstract
327
citations
Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta
2010· article· en· The American Journal of Human Genetics· Biochemistry, Genetics and Molecular Biology
affno abstract
319
citations
Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection
2018· article· en· Journal of the American College of Cardiology· Biochemistry, Genetics and Molecular Biology
affno abstract
302
citations
Pamidronate Treatment of Severe Osteogenesis Imperfecta in Children under 3 Years of Age*
2000· article· en· The Journal of Clinical Endocrinology & Metabolism· Biochemistry, Genetics and Molecular Biology
aff
293
citations
Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms
2011· article· en· Circulation Research· Biochemistry, Genetics and Molecular Biology
aff
293
citations