Doheny D - Search Results

1

A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.

Kenny EE, Pe'er I, Karban A, Ozelius L, Mitchell AA, Ng SM, Erazo M, Ostrer H, Abraham C, Abreu MT, Atzmon G, Barzilai N, Brant SR, Bressman S, Burns ER, Chowers Y, Clark LN, Darvasi A, Doheny D, Duerr RH, Eliakim R, Giladi N, Gregersen PK, Hakonarson H, Jones MR, Marder K, McGovern DP, Mulle J, Orr-Urtreger A, Proctor DD, Pulver A, Rotter JI, Silverberg MS, Ullman T, Warren ST, Waterman M, Zhang W, Bergman A, Mayer L, Katz S, Desnick RJ, Cho JH, Peter I. Kenny EE, et al. Among authors: doheny d. PLoS Genet. 2012;8(3):e1002559. doi: 10.1371/journal.pgen.1002559. Epub 2012 Mar 8. PLoS Genet. 2012. PMID: 22412388 Free PMC article.

2

Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study.

Peter I, Mitchell AA, Ozelius L, Erazo M, Hu J, Doheny D, Abreu MT, Present DH, Ullman T, Benkov K, Korelitz BI, Mayer L, Desnick RJ; New York Crohn's Disease Working Group. Peter I, et al. Among authors: doheny d. BMC Med Genet. 2011 May 6;12:63. doi: 10.1186/1471-2350-12-63. BMC Med Genet. 2011. PMID: 21548950 Free PMC article.

3

Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.

Chen B, Solis-Villa C, Hakenberg J, Qiao W, Srinivasan RR, Yasuda M, Balwani M, Doheny D, Peter I, Chen R, Desnick RJ. Chen B, et al. Among authors: doheny d. Hum Mutat. 2016 Nov;37(11):1215-1222. doi: 10.1002/humu.23067. Epub 2016 Sep 5. Hum Mutat. 2016. PMID: 27539938 Free PMC article.

4

Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017.

Doheny D, Srinivasan R, Pagant S, Chen B, Yasuda M, Desnick RJ. Doheny D, et al. J Med Genet. 2018 Apr;55(4):261-268. doi: 10.1136/jmedgenet-2017-105080. Epub 2018 Jan 12. J Med Genet. 2018. PMID: 29330335

5

Evolution of cardiac pathology in classic Fabry disease: Progressive cardiomyocyte enlargement leads to increased cell death and fibrosis, and correlates with severity of ventricular hypertrophy‬‬‬‬‬‬‬‬.

Frustaci A, Chimenti C, Doheny D, Desnick RJ. Frustaci A, et al. Among authors: doheny d. Int J Cardiol. 2017 Dec 1;248:257-262. doi: 10.1016/j.ijcard.2017.06.079. Epub 2017 Jun 23. Int J Cardiol. 2017. PMID: 28688718

6

Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease.

Dobrovolny R, Nazarenko I, Kim J, Doheny D, Desnick RJ. Dobrovolny R, et al. Among authors: doheny d. Hum Mutat. 2011 Jun;32(6):688-95. doi: 10.1002/humu.21474. Epub 2011 Mar 29. Hum Mutat. 2011. PMID: 21305660

7

Warfarin pharmacogenetics: a controlled dose-response study in healthy subjects.

Kadian-Dodov DL, van der Zee SA, Scott SA, Peter I, Martis S, Doheny DO, Rothlauf EB, Lubitz SA, Desnick RJ, Halperin JL. Kadian-Dodov DL, et al. Vasc Med. 2013 Oct;18(5):290-7. doi: 10.1177/1358863X13503193. Epub 2013 Sep 12. Vasc Med. 2013. PMID: 24029542 Clinical Trial.

8

Acute Intermittent Porphyria in children: A case report and review of the literature.

Balwani M, Singh P, Seth A, Debnath EM, Naik H, Doheny D, Chen B, Yasuda M, Desnick RJ. Balwani M, et al. Among authors: doheny d. Mol Genet Metab. 2016 Dec;119(4):295-299. doi: 10.1016/j.ymgme.2016.10.005. Epub 2016 Oct 15. Mol Genet Metab. 2016. PMID: 27769855 Free PMC article. Review.

9

Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.

Balwani M, Doheny D, Bishop DF, Nazarenko I, Yasuda M, Dailey HA, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Liu L, Desnick RJ; Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network. Balwani M, et al. Among authors: doheny d. Mol Med. 2013 Apr 30;19(1):26-35. doi: 10.2119/molmed.2012.00340. Mol Med. 2013. PMID: 23364466 Free PMC article.

10

Phenotypic features of myoclonus-dystonia in three kindreds.

Doheny DO, Brin MF, Morrison CE, Smith CJ, Walker RH, Abbasi S, Müller B, Garrels J, Liu L, De Carvalho Aguiar P, Schilling K, Kramer P, De Leon D, Raymond D, Saunders-Pullman R, Klein C, Bressman SB, Schmand B, Tijssen MA, Ozelius LJ, Silverman JM. Doheny DO, et al. Neurology. 2002 Oct 22;59(8):1187-96. doi: 10.1212/wnl.59.8.1187. Neurology. 2002. PMID: 12391346

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