Pope, F. Michael

The 2017 international classification of the Ehlers–Danlos syndromes

Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., et al. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 1,936

International nosology of heritable disorders of connective tissue, Berlin, 1986

Beighton, P., de Paepe, A., Danks, D., Finidori, G., Gedde‐Dahl, T., Goodman, R., Hall, J. G., Hollister, D. W., Horton, W., McKusick, V. A., et al. (1988) · American Journal of Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 732

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement

Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., et al. (2016) · The American Journal of Human Genetics

Complement system in diseasesOral microbiology and periodontitis research

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Ehlers-Danlos Syndrome with Severe Early-Onset Periodontal Disease (EDS-VIII) Is a Distinct, Heterogeneous Disorder with One Predisposition Gene at Chromosome 12p13

Rahman, N., Dunstan, M., Teare, M. D., Hanks, S., Douglas, J., Coleman, K., Bottomly, W. E., Campbell, M. E., Berglund, B., Nordenskjöld, M., et al. (2003) · The American Journal of Human Genetics

Connective tissue disorders researchOral microbiology and periodontitis research

Cited by 55

Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional proα2(I) chain and an EDS/OI clinical phenotype

NICHOLLS, A. C., VALLER, D., WALLIS, S., & POPE, F. M. (2001) · Journal of Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 40

Ehlers-Danlos syndrome type I: a clinical and ultrastructural study of a family with reduced amounts of collagen type III

PAEPE, A., NICHOLLS, A., NARCISI, P., KEYSER, F. D., QUATACKER, J., STAEY, M. V., MATTON, M., & POPE, F. M. (1987) · British Journal of Dermatology

Connective tissue disorders researchDermatological and Skeletal Disorders

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