Hart PS - Search Results

1

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. Hart TC, et al. Among authors: hart ps. J Med Genet. 2000 Feb;37(2):95-101. doi: 10.1136/jmg.37.2.95. J Med Genet. 2000. PMID: 10662808 Free PMC article.

2

A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1.

Hart TC, Zhang Y, Gorry MC, Hart PS, Cooper M, Marazita ML, Marks JM, Cortelli JR, Pallos D. Hart TC, et al. Among authors: hart ps. Am J Hum Genet. 2002 Apr;70(4):943-54. doi: 10.1086/339689. Epub 2002 Feb 26. Am J Hum Genet. 2002. PMID: 11868160 Free PMC article.

3

Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lefèvre syndrome.

Hart PS, Pallos D, Zhang Y, Sanchez J, Kavamura I, Brunoni D, Hart TC. Hart PS, et al. Among authors: hart tc. Mol Genet Metab. 2002 Jun;76(2):145-7. doi: 10.1016/s1096-7192(02)00031-8. Mol Genet Metab. 2002. PMID: 12083812

4

Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.

Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ. Hart TC, et al. Among authors: hart ps. J Med Genet. 2002 Dec;39(12):882-92. doi: 10.1136/jmg.39.12.882. J Med Genet. 2002. PMID: 12471200 Free PMC article.

5

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. Hart TC, et al. Among authors: hart ps. J Med Genet. 2003 Dec;40(12):900-6. doi: 10.1136/jmg.40.12.900. J Med Genet. 2003. PMID: 14684688 Free PMC article.

6

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. Hart PS, et al. Among authors: hart tc. J Med Genet. 2000 Dec;37(12):927-32. doi: 10.1136/jmg.37.12.927. J Med Genet. 2000. PMID: 11106356 Free PMC article.

7

Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients.

Zhang Y, Lundgren T, Renvert S, Tatakis DN, Firatli E, Uygur C, Hart PS, Gorry MC, Marks JJ, Hart TC. Zhang Y, et al. Among authors: hart ps, hart tc. J Med Genet. 2001 Feb;38(2):96-101. doi: 10.1136/jmg.38.2.96. J Med Genet. 2001. PMID: 11158173 Free PMC article.

8

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. Hart TC, et al. Among authors: hart ps. J Med Genet. 1999 Dec;36(12):881-7. J Med Genet. 1999. PMID: 10593994 Free PMC article.

9

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. Hart TC, et al. Among authors: hart ps. J Med Genet. 2000 Feb;37(2):88-94. doi: 10.1136/jmg.37.2.88. J Med Genet. 2000. PMID: 10662807 Free PMC article.

10

Demonstration of altered splicing with the IVS3-1G --> a mutation of cathepsin C.

Nusier M, Zhang Y, Yassin O, Hart TC, Hart PS. Nusier M, et al. Among authors: hart ps, hart tc. Mol Genet Metab. 2002 Mar;75(3):280-3. doi: 10.1006/mgme.2002.3304. Mol Genet Metab. 2002. PMID: 11914041

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