Dietz HC - Search Results

1

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.

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

A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds.

Nogee LM, Garnier G, Dietz HC, Singer L, Murphy AM, deMello DE, Colten HR. Nogee LM, et al. Among authors: dietz hc. J Clin Invest. 1994 Apr;93(4):1860-3. doi: 10.1172/JCI117173. J Clin Invest. 1994. PMID: 8163685 Free PMC article.

6

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

7

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

8

Loeys-Dietz syndrome: a primer for diagnosis and management.

MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC 3rd. MacCarrick G, et al. Among authors: dietz hc 3rd. Genet Med. 2014 Aug;16(8):576-87. doi: 10.1038/gim.2014.11. Epub 2014 Feb 27. Genet Med. 2014. PMID: 24577266 Free PMC article. Review.

9

Response to Pyeritz et al.

MacCarrick G, Loeys B, Dietz HC 3rd. MacCarrick G, et al. Among authors: dietz hc 3rd. Genet Med. 2014 Aug;16(8):642-4. doi: 10.1038/gim.2014.59. Genet Med. 2014. PMID: 25093569 Free article. No abstract available.

10

High prevalence of cervical deformity and instability requires surveillance in Loeys-Dietz syndrome.

Fuhrhop SK, McElroy MJ, Dietz HC 3rd, MacCarrick GL, Sponseller PD. Fuhrhop SK, et al. Among authors: dietz hc 3rd. J Bone Joint Surg Am. 2015 Mar 4;97(5):411-9. doi: 10.2106/JBJS.N.00680. J Bone Joint Surg Am. 2015. PMID: 25740032 Free PMC article.

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