Diehl SR - Search Results

1

Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.

Farrer LA, Grundfast KM, Amos J, Arnos KS, Asher JH Jr, Beighton P, Diehl SR, Fex J, Foy C, Friedman TB, et al. Farrer LA, et al. Among authors: diehl sr. Am J Hum Genet. 1992 May;50(5):902-13. Am J Hum Genet. 1992. PMID: 1349198 Free PMC article.

2

Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.

Farrer LA, Arnos KS, Asher JH Jr, Baldwin CT, Diehl SR, Friedman TB, Greenberg J, Grundfast KM, Hoth C, Lalwani AK, et al. Farrer LA, et al. Among authors: diehl sr. Am J Hum Genet. 1994 Oct;55(4):728-37. Am J Hum Genet. 1994. PMID: 7942851 Free PMC article.

3

Analysis of variability of clinical manifestations in Waardenburg syndrome.

Reynolds JE, Meyer JM, Landa B, Stevens CA, Arnos KS, Israel J, Marazita ML, Bodurtha J, Nance WE, Diehl SR. Reynolds JE, et al. Among authors: diehl sr. Am J Med Genet. 1995 Jul 17;57(4):540-7. doi: 10.1002/ajmg.1320570405. Am J Med Genet. 1995. PMID: 7573125

4

Major-locus contributions to variability of the craniofacial feature dystopia canthorum in Waardenburg syndrome.

Reynolds JE, Marazita ML, Meyer JM, Stevens CA, Eaves LJ, Arnos KS, Ploughman LM, MacLean C, Nance WE, Diehl SR. Reynolds JE, et al. Among authors: diehl sr. Am J Hum Genet. 1996 Feb;58(2):384-92. Am J Hum Genet. 1996. PMID: 8571965 Free PMC article.

5

Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?

Pandya A, Xia XJ, Landa BL, Arnos KS, Israel J, Lloyd J, James AL, Diehl SR, Blanton SH, Nance WE. Pandya A, et al. Among authors: diehl sr. Hum Mol Genet. 1996 Apr;5(4):497-502. doi: 10.1093/hmg/5.4.497. Hum Mol Genet. 1996. PMID: 8845842

6

Ascertainment of families with hereditary deafness for linkage studies. Waardenburg and Usher syndromes.

Stevens C, Arnos K, Bodurtha J, Wright L, Rawlings B, Marazita M, Nance W, Diehl S. Stevens C, et al. Ann N Y Acad Sci. 1991;630:293-4. doi: 10.1111/j.1749-6632.1991.tb19610.x. Ann N Y Acad Sci. 1991. PMID: 1952611 No abstract available.

7

Reevaluation of the chromosome 4q candidate region for early onset periodontitis.

Hart TC, Marazita ML, McCanna KM, Schenkein HA, Diehl SR. Hart TC, et al. Among authors: diehl sr. Hum Genet. 1993 Jun;91(5):416-22. doi: 10.1007/BF00217764. Hum Genet. 1993. PMID: 8100208

8

A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene.

Diehl SR, Boehnke M, Erickson RP, Ploughman LM, Seiler KA, Lieberman JL, Clarke HB, Bruce MA, Schorry EK, Pericak-Vance M, et al. Diehl SR, et al. Am J Hum Genet. 1989 Jan;44(1):33-7. Am J Hum Genet. 1989. PMID: 2491779 Free PMC article.

9

A new test for linkage in the presence of locus heterogeneity.

MacLean CJ, Ploughman LM, Diehl SR, Kendler KS. MacLean CJ, et al. Among authors: diehl sr. Am J Hum Genet. 1992 Jun;50(6):1259-66. Am J Hum Genet. 1992. PMID: 1598905 Free PMC article.

10

Exclusion of chromosome 7 for Kartagener syndrome but suggestion of linkage in families with other forms of primary ciliary dyskinesia.

Witt M, Wang Yf, Wang S, Sun Ce, Pawlik J, Rutkiewicz E, Zebrak J, Diehl SR. Witt M, et al. Among authors: diehl sr. Am J Hum Genet. 1999 Jan;64(1):313-8. doi: 10.1086/302203. Am J Hum Genet. 1999. PMID: 9915976 Free PMC article. No abstract available.

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