Dietz HC - Search Results

1

Both the wild type and a functional isoform of CFTR are expressed in kidney.

Morales MM, Carroll TP, Morita T, Schwiebert EM, Devuyst O, Wilson PD, Lopes AG, Stanton BA, Dietz HC, Cutting GR, Guggino WB. Morales MM, et al. Among authors: dietz hc. Am J Physiol. 1996 Jun;270(6 Pt 2):F1038-48. doi: 10.1152/ajprenal.1996.270.6.F1038. Am J Physiol. 1996. PMID: 8764323

2

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.

Dietz HC, Saraiva JM, Pyeritz RE, Cutting GR, Francomano CA. Dietz HC, et al. Hum Mutat. 1992;1(5):366-74. doi: 10.1002/humu.1380010504. Hum Mutat. 1992. PMID: 1301946

3

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.

Dietz HC, Pyeritz RE, Puffenberger EG, Kendzior RJ Jr, Corson GM, Maslen CL, Sakai LY, Francomano CA, Cutting GR. Dietz HC, et al. J Clin Invest. 1992 May;89(5):1674-80. doi: 10.1172/JCI115766. J Clin Invest. 1992. PMID: 1569206 Free PMC article.

4

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.

Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, et al. Dietz HC, et al. Nature. 1991 Jul 25;352(6333):337-9. doi: 10.1038/352337a0. Nature. 1991. PMID: 1852208

5

The skipping of constitutive exons in vivo induced by nonsense mutations.

Dietz HC, Valle D, Francomano CA, Kendzior RJ Jr, Pyeritz RE, Cutting GR. Dietz HC, et al. Science. 1993 Jan 29;259(5095):680-3. doi: 10.1126/science.8430317. Science. 1993. PMID: 8430317

6

Response to Biesecker et al.

Hamosh A, Amberger JS, Bocchini CA, Bodurtha J, Bult CJ, Chute CG, Cutting GR, Dietz HC, Firth HV, Gibbs RA, Grody WW, Haendel MA, Lupski JR, Posey JE, Robinson PN, Schriml LM, Scott AF, Sobreira NL, Valle D, Wu N, Rasmussen SA. Hamosh A, et al. Among authors: dietz hc. Am J Hum Genet. 2021 Sep 2;108(9):1807-1808. doi: 10.1016/j.ajhg.2021.07.004. Am J Hum Genet. 2021. PMID: 34478655 Free PMC article. No abstract available.

7

Accurate assignment of disease liability to genetic variants using only population data.

Collaco JM, Raraigh KS, Betz J, Aksit MA, Blau N, Brown J, Dietz HC, MacCarrick G, Nogee LM, Sheridan MB, Vernon HJ, Beaty TH, Louis TA, Cutting GR. Collaco JM, et al. Among authors: dietz hc. Genet Med. 2022 Jan;24(1):87-99. doi: 10.1016/j.gim.2021.08.012. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906463 Free PMC article.

8

Inhibition of fibrillin 1 expression using U1 snRNA as a vehicle for the presentation of antisense targeting sequence.

Montgomery RA, Dietz HC. Montgomery RA, et al. Among authors: dietz hc. Hum Mol Genet. 1997 Apr;6(4):519-25. doi: 10.1093/hmg/6.4.519. Hum Mol Genet. 1997. PMID: 9097954

9

Novel Upf2p orthologues suggest a functional link between translation initiation and nonsense surveillance complexes.

Mendell JT, Medghalchi SM, Lake RG, Noensie EN, Dietz HC. Mendell JT, et al. Among authors: dietz hc. Mol Cell Biol. 2000 Dec;20(23):8944-57. doi: 10.1128/MCB.20.23.8944-8957.2000. Mol Cell Biol. 2000. PMID: 11073994 Free PMC article.

10

Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.

Nijbroek G, Sood S, McIntosh I, Francomano CA, Bull E, Pereira L, Ramirez F, Pyeritz RE, Dietz HC. Nijbroek G, et al. Among authors: dietz hc. Am J Hum Genet. 1995 Jul;57(1):8-21. Am J Hum Genet. 1995. PMID: 7611299 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

288 results

Search Page