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Items: 8


Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta.

Hart PS, Hart TC, Michalec MD, Ryu OH, Simmons D, Hong S, Wright JT.

J Med Genet. 2004 Jul;41(7):545-9. No abstract available.


Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects.

Hart TC, Hart PS, Gorry MC, Michalec MD, Ryu OH, Uygur C, Ozdemir D, Firatli S, Aren G, Firatli E.

J Med Genet. 2003 Dec;40(12):900-6.


Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature.

Hart PS, Michalec MD, Seow WK, Hart TC, Wright JT.

Arch Oral Biol. 2003 Aug;48(8):589-96.


Two 3' polymorphisms in DLX5: g126427delTATC and g126249T-->C.

Hart PS, Michalec MD, Wright JT, Hart TC.

Hum Mutat. 2000 Nov;16(5):448. No abstract available.


Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation.

Hart TC, Hart PS, Michalec MD, Zhang Y, Marazita ML, Cooper M, Yassin OM, Nusier M, Walker S.

J Med Genet. 2000 Feb;37(2):95-101.


Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C.

Hart TC, Hart PS, Michalec MD, Zhang Y, Firatli E, Van Dyke TE, Stabholz A, Zlotogorski A, Shapira L, Soskolne WA.

J Med Genet. 2000 Feb;37(2):88-94. Erratum in: J Med Genet 2001 Jan;38(1):79. Zlorogorski, A [corrected to Zlotogorski, A].


Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients.

Hart PS, Zhang Y, Firatli E, Uygur C, Lotfazar M, Michalec MD, Marks JJ, Lu X, Coates BJ, Seow WK, Marshall R, Williams D, Reed JB, Wright JT, Hart TC.

J Med Genet. 2000 Dec;37(12):927-32.


Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome.

Hart TC, Hart PS, Bowden DW, Michalec MD, Callison SA, Walker SJ, Zhang Y, Firatli E.

J Med Genet. 1999 Dec;36(12):881-7.

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