Zobrazeno 1 - 9
of 9
pro vyhledávání: '"M D Michalec"'
Autor:
P.S. Hart, Gamze Aren, Thomas C. Hart, Didem Ozdemir, Michael C. Gorry, Erhan Firatli, M D Michalec, Sönmez Firatli, C Uygur, O.H. Ryu
Publikováno v:
Scopus-Elsevier
The genetic basis of non-syndromic autosomal recessive forms of amelogenesis imperfecta (AI) is unknown. To evaluate five candidate genes for an aetiological role in AI. In this study 20 consanguineous families with AI were identified in whom proband
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::656dc1c7b801c190f7f01cec33137cd2
https://doi.org/10.1136/jmg.40.12.900
https://doi.org/10.1136/jmg.40.12.900
Autor:
T C, Hart, P S, Hart, M D, Michalec, Y, Zhang, E, Firatli, T E, Van Dyke, A, Stabholz, A, Zlotogorski, L, Shapira, W A, Soskolne, A, Zlorogorski
Publikováno v:
Scopus-Elsevier
Of the many palmoplantar keratoderma (PPK) conditions, only Papillon-Lefèvre syndrome (PLS) and Haim-Munk syndrome (HMS) are associated with premature periodontal destruction. Although both PLS and HMS share the cardinal features of PPK and severe p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0904352e98e8b9f2fed866c870e9efe
https://doi.org/10.1136/jmg.37.2.88
https://doi.org/10.1136/jmg.37.2.88
Autor:
M D Michalec, Stephen J. Walker, Y Zhang, P.S. Hart, Mary L. Marazita, Mohamad K. Nusier, Margaret E. Cooper, Othman M. Yassin, Thomas C. Hart
Publikováno v:
Journal of Medical Genetics. 37:95-101
Prepubertal periodontitis (PPP) is a rare and rapidly progressive disease of young children that results in destruction of the periodontal support of the primary dentition. The condition may occur as part of a recognised syndrome or may occur as an i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::998f075998daa7c2b5e9189fe445e629
https://doi.org/10.1136/jmg.37.2.95
https://doi.org/10.1136/jmg.37.2.95
Autor:
Darrin Simmons, S. P. Hong, O.H. Ryu, P.S. Hart, John Tim Wright, M D Michalec, Thomas C. Hart
Publikováno v:
Journal of medical genetics. 41(7)
Serine protease functionality is based on nucleophilic attack of a targeted peptidic bond by a serine. The serine protease superfamily is extremely diverse and includes proteases such as plasminogen, prostatin, hepsin, the kallikrein family ( KLK gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fbc2c067d47136ed51dccd7fdc55a0c
https://pubmed.ncbi.nlm.nih.gov/15235027
https://pubmed.ncbi.nlm.nih.gov/15235027
Publikováno v:
Archives of oral biology. 48(8)
The amelogenesis imperfectas (AI) are a genetically heterogeneous group of diseases that result in defective development of tooth enamel. Although X-linked, autosomal dominant and autosomal recessive forms of AI have been clinically characterized, on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f882be02e80637a24dbe7928bd534109
https://pubmed.ncbi.nlm.nih.gov/12828988
https://pubmed.ncbi.nlm.nih.gov/12828988
Publikováno v:
Human mutation. 16(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::540dbcbf7ec6ecdd30ee0f95c4f51145
https://pubmed.ncbi.nlm.nih.gov/11058915
https://pubmed.ncbi.nlm.nih.gov/11058915
Autor:
T C, Hart, P S, Hart, D W, Bowden, M D, Michalec, S A, Callison, S J, Walker, Y, Zhang, E, Firatli
Publikováno v:
Journal of medical genetics. 36(12)
Papillon-Lefèvre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar hyperkeratosis and severe early onset periodontitis that results in the premature loss of the primary and secondary dentitions. A major gene locus for P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d3a1c5743e09c1403c15135be8498c2a
https://pubmed.ncbi.nlm.nih.gov/10593994
https://pubmed.ncbi.nlm.nih.gov/10593994
Publikováno v:
Human Mutation. 16:448-448
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aae051fa345d0675a45f092fdd37faa2
https://doi.org/10.1002/1098-1004(200011)16:5<448::aid-humu22>3.0.co
https://doi.org/10.1002/1098-1004(200011)16:5<448::aid-humu22>3.0.co
Autor:
B. J. Coates, Y Zhang, Thomas C. Hart, X. Lu, M D Michalec, Erhan Firatli, J B Reed, R. I. Marshall, P.S. Hart, J J Marks, W K Seow, C Uygur, D. Williams, John Tim Wright, M. Lotfazar
Publikováno v:
Scopus-Elsevier
INTRODUCTION—Papillon-Lefèvre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar keratoderma and severe, early onset periodontitis, which results from deficiency of cathepsin C activity secondary to mutations in the ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83f9337057fb5036097bab76773ce729
http://www.scopus.com/inward/record.url?eid=2-s2.0-0034528706&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0034528706&partnerID=MN8TOARS
