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Doheny D 's Articles

[30071891] Many pitfalls in diagnosis of acute intermittent porphyria: a case report.

Indika N L R , Kesavan T , Dilanthi H W , Jayasena K L S P K M , Chandrasiri N D P D , Jayasinghe I N , Piumika U M T , Vidanapathirana D M , Gunarathne K D A V , Dissanayake M , Jasinge E , Arachchi W Kodikara , Doheny D , Desnick R J ,

[29782964] An in vitro approach for prioritization and evaluation of chemical effects on glucocorticoid receptor mediated adipogenesis.

Hartman Jessica K , Beames Tyler , Parks Bethany , Doheny Daniel , Song Gina , Efremenko Alina , Yoon Miyoung , Foley Briana , Deisenroth Chad , McMullen Patrick D , Clewell Rebecca A ,

[29330335] Fabry Disease: prevalence of affected males and heterozygotes with pathogenic mutations identified by screening renal, cardiac and stroke clinics, 1995-2017.

Doheny Dana , Srinivasan Ram , Pagant Silvere , Chen Brenden , Yasuda Makiko , Desnick Robert J ,

[28688718] 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 Andrea , Chimenti Cristina , Doheny Dana , Desnick Robert J ,

[27503385] Editor's Highlight: Development of an In vitro Assay Measuring Uterine-Specific Estrogenic Responses for Use in Chemical Safety Assessment.

Miller Michelle M , Alyea Rebecca A , LeSommer Caroline , Doheny Daniel L , Rowley Sean M , Childs Kristin M , Balbuena Pergentino , Ross Susan M , Dong Jian , Sun Bin , Andersen Melvin A , Clewell Rebecca A ,

[27769855] Acute Intermittent Porphyria in children: A case report and review of the literature.

Balwani Manisha , Singh Preeti , Seth Anju , Debnath Ekta Malik , Naik Hetanshi , Doheny Dana , Chen Brenden , Yasuda Makiko , Desnick Robert J ,

[27664422] Editor's Highlight: Screening ToxCast Prioritized Chemicals for PPARG Function in a Human Adipose-Derived Stem Cell Model of Adipogenesis.

Foley Briana , Doheny Daniel L , Black Michael B , Pendse Salil N , Wetmore Barbara A , Clewell Rebecca A , Andersen Melvin E , Deisenroth Chad ,

[27539938] Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.

Chen Brenden , Solis-Villa Constanza , Hakenberg Jörg , Qiao Wanqiong , Srinivasan Ramakrishnan R , Yasuda Makiko , Balwani Manisha , Doheny Dana , Peter Inga , Chen Rong , Desnick Robert J ,

[24029542] Warfarin pharmacogenetics: a controlled dose-response study in healthy subjects.

Kadian-Dodov Daniella L , van der Zee Sarina A , Scott Stuart A , Peter Inga , Martis Suparna , Doheny Dana O , Rothlauf Elizabeth B , Lubitz Steven A , Desnick Robert J , Halperin Jonathan L ,

[23364466] 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 Manisha , Doheny Dana , Bishop David F , Nazarenko Irina , Yasuda Makiko , Dailey Harry A , Anderson Karl E , Bissell D Montgomery , Bloomer Joseph , Bonkovsky Herbert L , Phillips John D , Liu Lawrence , Desnick Robert J , ,

[22412388] A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.

Kenny Eimear E , Pe'er Itsik , Karban Amir , Ozelius Laurie , Mitchell Adele A , Ng Sok Meng , Erazo Monica , Ostrer Harry , Abraham Clara , Abreu Maria T , Atzmon Gil , Barzilai Nir , Brant Steven R , Bressman Susan , Burns Edward R , Chowers Yehuda , Clark Lorraine N , Darvasi Ariel , Doheny Dana , Duerr Richard H , Eliakim Rami , Giladi Nir , Gregersen Peter K , Hakonarson Hakon , Jones Michelle R , Marder Karen , McGovern Dermot P B , Mulle Jennifer , Orr-Urtreger Avi , Proctor Deborah D , Pulver Ann , Rotter Jerome I , Silverberg Mark S , Ullman Thomas , Warren Stephen T , Waterman Matti , Zhang Wei , Bergman Aviv , Mayer Lloyd , Katz Seymour , Desnick Robert J , Cho Judy H , Peter Inga ,

[21548950] Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study.

Peter Inga , Mitchell Adele A , Ozelius Laurie , Erazo Monica , Hu Jianzhong , Doheny Dana , Abreu Maria T , Present Daniel H , Ullman Thomas , Benkov Keith , Korelitz Burton I , Mayer Lloyd , Desnick Robert J , ,

[21305660] Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease.

Dobrovolny Robert , Nazarenko Irina , Kim Jungmin , Doheny Dana , Desnick Robert J ,

[20128861] Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population.

Lubitz S A , Scott S A , Rothlauf E B , Agarwal A , Peter I , Doheny D , Van Der Zee S , Jaremko M , Yoo C , Desnick R J , Halperin J L ,

[18175340] Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.

Raymond Deborah , Saunders-Pullman Rachel , de Carvalho Aguiar Patricia , Schule Birgitt , Kock Norman , Friedman Jennifer , Harris Juliette , Ford Blair , Frucht Steven , Heiman Gary A , Jennings Danna , Doheny Dana , Brin Mitchell F , de Leon Brin Deborah , Multhaupt-Buell Trisha , Lang Anthony E , Kurlan Roger , Klein Christine , Ozelius Laurie , Bressman Susan ,

[12853230] Mutation at the SCA17 locus is not a common cause of parkinsonism.

Hernandez Dena , Hanson Melissa , Singleton Amanda , Gwinn-Hardy Katrina , Freeman Jason , Ravina Bernard , Doheny Dana , Gallardo Marisol , Weiser Roberto , Hardy John , Singleton Andrew ,

[12402271] Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.

Klein Christine , Liu Liu , Doheny Dana , Kock Norman , Müller Birgitt , de Carvalho Aguiar Patricia , Leung Joanne , de Leon Deborah , Bressman Susan B , Silverman Jeremy , Smith Christopher , Danisi Fabio , Morrison Chris , Walker Ruth H , Velickovic Miodrag , Schwinger Eberhard , Kramer Patricia L , Breakefield Xandra O , Brin Mitchell F , Ozelius Laurie J ,

[12391355] Clinical findings of a myoclonus-dystonia family with two distinct mutations.

Doheny D , Danisi F , Smith C , Morrison C , Velickovic M , De Leon D , Bressman S B , Leung J , Ozelius L , Klein C , Breakefield X O , Brin M F , Silverman J M ,

[12391346] Phenotypic features of myoclonus-dystonia in three kindreds.

Doheny D O , Brin M F , Morrison C E , Smith C J , Walker R H , 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 S B , Schmand B , Tijssen M A J , Ozelius L J , Silverman J M ,

[11523564] Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.

Leung J C , Klein C , Friedman J , Vieregge P , Jacobs H , Doheny D , Kamm C , DeLeon D , Pramstaller P P , Penney J B , Eisengart M , Jankovic J , Gasser T , Bressman S B , Corey D P , Kramer P , Brin M F , Ozelius L J , Breakefield X O ,

[11022010] A major locus for myoclonus-dystonia maps to chromosome 7q in eight families.

Klein C , Schilling K , Saunders-Pullman R J , Garrels J , Breakefield X O , Brin M F , deLeon D , Doheny D , Fahn S , Fink J S , Forsgren L , Friedman J , Frucht S , Harris J , Holmgren G , Kis B , Kurlan R , Kyllerman M , Lang A E , Leung J , Raymond D , Robishaw J D , Sanner G , Schwinger E , Tabamo R E , Tagliati M ,

[10220438] Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.

Klein C , Brin M F , Kramer P , Sena-Esteves M , de Leon D , Doheny D , Bressman S , Fahn S , Breakefield X O , Ozelius L J ,

 

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