Works matching AU Duff, Jennifer

Results: 21

Homozygous TAF1C variants are associated with a novel childhood‐onset neurological phenotype.

Published in:

Clinical Genetics, 2020, v. 98, n. 5, p. 493, doi. 10.1111/cge.13827

By:

Knuutinen, Oula;
Pyle, Angela;
Suo‐Palosaari, Maria;
Duff, Jennifer;
Froukh, Tawfiq;
Lehesjoki, Anna‐Elina;
Kangas, Salla M.;
Cassidy, James;
Maraqa, Latifa;
Keski‐Filppula, Riikka;
Kokkonen, Hannaleena;
Uusimaa, Johanna;
Horvath, Rita;
Vieira, Päivi

Publication type:

Article

Perspectives on death and dying: a study of resident comfort with End-of-life care.

Published in:

BMC Medical Education, 2016, v. 16, p. 1, doi. 10.1186/s12909-016-0819-6

By:

Schmit, Jessica M.;
Meyer, Lynne E.;
Duff, Jennifer M.;
Yunfeng Dai;
Fei Zou;
Close, Julia L.

Publication type:

Article

Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.

Published in:

Journal of Neurology, 2025, v. 272, n. 2, p. 1, doi. 10.1007/s00415-025-12893-9

By:

Iruzubieta, Pablo;
Verdú-Díaz, José;
Töpf, Ana;
Luce, Leonela;
Claeys, Kristl G.;
De Ridder, Willem;
González-Quereda, Lidia;
de Fuenmayor-Fernández de la Hoz, Carlos Pablo;
Poza, Juan José;
Zulaica, Miren;
de Jonghe, Peter;
Duff, Jennifer;
Mroczek, Magdalena;
Martín-Jiménez, Paloma;
Hernández-Laín, Aurelio;
Domínguez-González, Cristina;
Baets, Jonathan;
Gallano, Pia;
Díaz-Manera, Jordi;
Straub, Volker

Publication type:

Article

Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization.

Published in:

Journal of Neurogenetics, 2013, v. 27, n. 4, p. 176, doi. 10.3109/01677063.2013.831094

By:

Pyle, Angela;
Griffin, Helen;
Duff, Jennifer;
Bennett, Shona;
Zwolinski, Simon;
Smertenko, Tania;
Yu-Wai Man, Patrick;
Santibanez-Koref, Mauro;
Horvath, Rita;
Chinnery, Patrick F.

Publication type:

Article

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies.

Published in:

JAMA: Journal of the American Medical Association, 2014, v. 312, n. 1, p. 68, doi. 10.1001/jama.2014.7184

By:

Taylor, Robert W.;
Pyle, Angela;
Griffin, Helen;
Blakely, Emma L.;
Duff, Jennifer;
Langping He;
Smertenko, Tania;
Alston, Charlotte L.;
Neeve, Vivienne C.;
Best, Andrew;
Yarham, John W.;
Kirschner, Janbernd;
Schara, Ulrike;
Talim, Beril;
Topaloglu, Haluk;
Baric, Ivo;
Holinski-Feder, Elke;
Abicht, Angela;
Czermin, Birgit;
Kleinle, Stephanie

Publication type:

Article

CASE REPORT ABSTRACTS.

Published in:

Annals of Pharmacotherapy, 2012, v. 46, n. 1, p. 141, doi. 10.1345/aph.1Q467

By:

Duff, Jennifer M;
Moreb, Jan S.;
Muwalla, Firas

Publication type:

Article

Pervanadate Mimics IFNγ-Mediated Induction of ICAM-1 Expression via Activation of STAT Proteins.

Published in:

Journal of Investigative Dermatology, 1997, v. 108, n. 3, p. 295, doi. 10.1111/1523-1747.ep12286465

By:

Duff, Jennifer L.;
Quinlan, Kimberly L.;
Paxton, Lani L. L.;
Naik, Shubhada M.;
Caughman, S. Wright

Publication type:

Article

Clinical presentation and proteomic signature of patients with TANGO2 mutations.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 297, doi. 10.1002/jimd.12156

By:

Mingirulli, Nadja;
Pyle, Angela;
Hathazi, Denisa;
Alston, Charlotte L.;
Kohlschmidt, Nicolai;
O'Grady, Gina;
Waddell, Leigh;
Evesson, Frances;
Cooper, Sandra B. T.;
Turner, Christian;
Duff, Jennifer;
Topf, Ana;
Yubero, Delia;
Jou, Cristina;
Nascimento, Andrés;
Ortez, Carlos;
García‐Cazorla, Angels;
Gross, Claudia;
O'Callaghan, Maria;
Santra, Saikat

Publication type:

Article

Comparative Effectiveness of Preoperative Treatment Regimens in Patients With Potentially Resectable Esophageal Cancer.

Published in:

2017

By:

Duff, Jennifer M.;
Peters, H. Charles;
Zingarelli, William;
Ben-David, Kfir;
Sarosi, George A.;
Thomas, Ryan M.

Publication type:

Letter

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells.

Published in:

Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-30143-z

By:

Trifunov, Selena;
Pyle, Angela;
Valentino, Maria Lucia;
Liguori, Rocco;
Yu-Wai-Man, Patrick;
Burté, Florence;
Duff , Jennifer;
Kleinle, Stephanie;
Diebold, Isabel;
Rugolo, Michela;
Horvath, Rita;
Carelli, Valerio

Publication type:

Article

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.

Published in:

Acta Neuropathologica, 2023, v. 145, n. 1, p. 127, doi. 10.1007/s00401-022-02510-8

By:

Weihl, Conrad C.;
Töpf, Ana;
Bengoechea, Rocio;
Duff, Jennifer;
Charlton, Richard;
Garcia, Solange Kapetanovic;
Domínguez-González, Cristina;
Alsaman, Abdulaziz;
Hernández-Laín, Aurelio;
Franco, Luis Varona;
Sanchez, Monica Elizabeth Ponce;
Beecroft, Sarah J.;
Goullee, Hayley;
Daw, Jil;
Bhadra, Ankan;
True, Heather;
Inoue, Michio;
Findlay, Andrew R.;
Laing, Nigel;
Olivé, Montse

Publication type:

Article

Satisfaction of General Versus Specialized Continuity Clinic in Hematology Oncology Fellowship Training: A Survey.

Published in:

Journal of Medical Education & Curricular Development, 2021, p. 1, doi. 10.1177/23821205211025870

By:

Ilyas, Sama;
Murphy, Martina;
Duff, Jennifer;
Close, Julia

Publication type:

Article

Satisfaction of General Versus Specialized Continuity Clinic in Hematology Oncology Fellowship Training: A Survey.

Published in:

Journal of Medical Education & Curricular Development, 2021, p. 1, doi. 10.1177/23821205211025870

By:

Ilyas, Sama;
Murphy, Martina;
Duff, Jennifer;
Close, Julia

Publication type:

Article

The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

Published in:

2015

By:

Bansagi, Boglarka;
Griffin, Helen;
Ramesh, Venkateswaran;
Duff, Jennifer;
Pyle, Angela;
Chinnery, Patrick F.;
Horvath, Rita;
Rossor, Alexander M.;
Oates, Emily C.;
Salter, Hannah K.;
Yang Liu;
Murphy, Sinead M.;
Schule, Rebecca;
Gonzales, Michael A.;
Scoto, Mariacristina;
Phadke, Rahul;
Sewry, Caroline A.;
Houlden, Henry;
Jordanova, Albena;
Tournev, Iyailo

Publication type:

Letter

Exome sequencing in undiagnosed inherited and sporadic ataxias.

Published in:

Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. 276, doi. 10.1093/brain/awu348

By:

Pyle, Angela;
Smertenko, Tania;
Bargiela, David;
Griffin, Helen;
Duff, Jennifer;
Appleton, Marie;
Douroudis, Konstantinos;
Pfeffer, Gerald;
Santibanez-Koref, Mauro;
Eglon, Gail;
Yu-Wai-Man, Patrick;
Ramesh, Venkateswaran;
Horvath, Rita;
Chinnery, Patrick F.

Publication type:

Article

Impact of Palliative Chemotherapy and Travel Distance on Hospice Referral in Patients With Stage IV Pancreatic Cancer: A Retrospective Analysis Within a Veterans Administration Medical Center.

Published in:

American Journal of Hospice & Palliative Medicine, 2018, v. 35, n. 6, p. 875, doi. 10.1177/1049909117746390

By:

Duff, Jennifer M.;
Thomas, Ryan M.

Publication type:

Article

A Multicentered Academic Medical Center Experience of a Simulated Root Cause Analysis (RCA) for Hematology/Oncology Fellows.

Published in:

Journal of Cancer Education, 2022, v. 37, n. 4, p. 911, doi. 10.1007/s13187-020-01899-8

By:

Wallace, Danielle;
Cochran, Denise;
Duff, Jennifer;
Close, Julia;
Murphy, Martina;
Baran, Andrea;
Patel, Arpan

Publication type:

Article

Adequacy of Published Oncology Randomized Controlled Trials to Provide Therapeutic Details Needed for Clinical Application.

Published in:

JNCI: Journal of the National Cancer Institute, 2010, v. 102, n. 10, p. 702, doi. 10.1093/jnci/djq117

By:

Duff, Jennifer M.;
Leather, Helen;
Walden, Edmund O.;
LaPlant, Kourtney D.;
George Jr., Thomas J.

Publication type:

Article

Real-World Use of AI for Coding of Adverse Events in Clinical Trials: Study evaluates the real-world use of medical coding module supported by artificial intelligence.

Published in:

Applied Clinical Trials, 2022, v. 31, n. 7/8, p. 20

By:

South, Brett R.;
Willis, Van C.;
Bradham, Walker;
Duff, Jennifer;
Hekmat, Rezzan;
Snowdon, Jane L.;
Weeraratne, Dilhan

Publication type:

Article

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.

Published in:

PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006620

By:

Connor, Thomas M.;
Hoer, Simon;
Mallett, Andrew;
Gale, Daniel P.;
Gomez-Duran, Aurora;
Posse, Viktor;
Antrobus, Robin;
Moreno, Pablo;
Sciacovelli, Marco;
Frezza, Christian;
Duff, Jennifer;
Sheerin, Neil S.;
Sayer, John A.;
Ashcroft, Margaret;
Wiesener, Michael S.;
Hudson, Gavin;
Gustafsson, Claes M.;
Chinnery, Patrick F.;
Maxwell, Patrick H.

Publication type:

Article

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 7, p. 1186, doi. 10.1093/hmg/ddy033

By:

Bartsakoulia, Marina;
Pyle, Angela;
Troncoso-Chandía, Diego;
Vial-Brizzi, Josefa;
Paz-Fiblas, Marysol V.;
Duff, Jennifer;
Griffin, Helen;
Boczonadi, Veronika;
Lochmüller, Hanns;
Kleinle, Stephanie;
Chinnery, Patrick F.;
Grünert, Sarah;
Kirschner, Janbernd;
Eisner, Verónica;
Horvath, Rita

Publication type:

Article