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Genome‐Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim‐Chester DiseaseMartínez‐López, Javier ; Márquez, Ana ; Pegoraro, Francesco ; Ortiz‐Fernández, Lourdes ; Acosta‐Herrera, Marialbert ; Kerick, Martin ; Gelain, Elena ; Diamond, Eli L. ; Durham, Benjamin H. ; Abdel‐Wahab, Omar ; Go, Ronald S. ; Koster, Matthew J. ; Dagna, Lorenzo ; Campochiaro, Corrado ; Collin, Matthew ; Milne, Paul ; Estrada‐Veras, Juvianee I. ; O'Brien, Kevin ; Papo, Matthias ; Cohen‐Aubar, Fleur ; Amoura, Zahir ; Haroche, Julien ; Martín, Javier ; Vaglio, AugustoArthritis & rheumatology (Hoboken, N.J.), 2024-01, Vol.76 (1), p.141-145 [Periódico revisado por pares]Boston, USA: Wiley Periodicals, IncTexto completo disponível |
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Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular eraGoyal, Gaurav ; Heaney, Mark L. ; Collin, Matthew ; Cohen-Aubart, Fleur ; Vaglio, Augusto ; Durham, Benjamin H. ; Hershkovitz-Rokah, Oshrat ; Girschikofsky, Michael ; Jacobsen, Eric D. ; Toyama, Kazuhiro ; Goodman, Aaron M. ; Hendrie, Paul ; Cao, Xin-xin ; Estrada-Veras, Juvianee I. ; Shpilberg, Ofer ; Abdo, André ; Kurokawa, Mineo ; Dagna, Lorenzo ; McClain, Kenneth L. ; Mazor, Roei D. ; Picarsic, Jennifer ; Janku, Filip ; Go, Ronald S. ; Haroche, Julien ; Diamond, Eli L.Blood, 2020-05, Vol.135 (22), p.1929-1945 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Neurological manifestations of Erdheim–Chester DiseaseBoyd, Louisa C. ; O’Brien, Kevin J. ; Ozkaya, Neval ; Lehky, Tanya ; Meoded, Avner ; Gochuico, Bernadette R. ; Hannah‐Shmouni, Fady ; Nath, Avindra ; Toro, Camilo ; Gahl, William A. ; Estrada‐Veras, Juvianee I. ; Dave, Rahul H.Annals of clinical and translational neurology, 2020-04, Vol.7 (4), p.497-506 [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |
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The clinical spectrum of Erdheim-Chester disease: an observational cohort studyEstrada-Veras, Juvianee I. ; O'Brien, Kevin J. ; Boyd, Louisa C. ; Dave, Rahul H. ; Durham, Benjamin H. ; Xi, Liqiang ; Malayeri, Ashkan A. ; Chen, Marcus Y. ; Gardner, Pamela J. ; Alvarado Enriquez, Jhonell R. ; Shah, Nikeith ; Abdel-Wahab, Omar ; Gochuico, Bernadette R. ; Raffeld, Mark ; Jaffe, Elaine S. ; Gahl, William A.Blood advances, 2017-02, Vol.1 (6), p.357-366 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunitiesEstrada‐Veras, Juvianee I. ; Cabrera‐Peña, Giselle A. ; Pérez‐Estrella de Ferrán, CeilaMolecular genetics & genomic medicine, 2016-05, Vol.4 (3), p.243-256 [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Erdheim-Chester disease with tendon and muscle involvement: Reports of a rare presentationGolagha, Mahshid ; Dehghani Firouzabadi, Fatemeh ; Millo, Corina ; Nikpanah, Moozhan ; Ahlman, Mark A. ; Dave, Rahul H. ; Estrada-Veras, Juvianee I. ; O'Brien, Kevin ; Malayeri, Ashkan A.Radiology case reports, 2024-05, Vol.19 (5), p.1866-1871 [Periódico revisado por pares]Netherlands: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim–Chester DiseaseShekhar, Skand ; Irizarry-Caro, Jorge A. ; Sinaii, Ninet ; Gahl, William A. ; Estrada-Veras, Juvianee I. ; Dave, Rahul H. ; Gochuico, Bernadette R. ; Papadakis, Georgios Z. ; Patronas, Nicholas ; Stratakis, Constantine A. ; O’Brien, Kevin ; Hannah-Shmouni, FadyCancers, 2021-08, Vol.13 (16), p.4126 [Periódico revisado por pares]Basel: MDPI AGTexto completo disponível |
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Material Type: Artigo
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Clinical and Histopathologic Features of Interstitial Lung Disease in Erdheim⁻Chester DiseaseHaroutunian, Sara G ; O'Brien, Kevin J ; Estrada-Veras, Juvianee I ; Yao, Jianhua ; Boyd, Louisa C ; Mathur, Kavya ; Gahl, William A ; Mirmomen, S Mojdeh ; Malayeri, Ashkan A ; Kleiner, David E ; Jaffe, Elaine S ; Gochuico, Bernadette RJournal of clinical medicine, 2018-08, Vol.7 (9), p.243 [Periódico revisado por pares]Switzerland: MDPITexto completo disponível |
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Material Type: Artigo
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Skeletal involvement in Erdheim-Chester disease: Multimodality imaging features and association with the BRAFV600E mutationNikpanah, Moozhan ; Dehghani Firouzabadi, Fatemeh ; Farhadi, Faraz ; Mirmomen, S. Mojdeh ; Ahlman, Mark A. ; Huda, Fahimul ; Millo, Corina ; Saboury, Babak ; Paschall, Anna K. ; Gahl, William A. ; Estrada-Veras, Juvianee I. ; Turkbey, Evrim ; Jones, Elizabeth C. ; O'Brien, Kevin ; Malayeri, Ashkan A.Clinical imaging, 2024-02, Vol.106, p.110067-110067, Article 110067 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humansBai, Renkui ; Cui, Hong ; Devaney, Joseph M. ; Allis, Katrina M. ; Balog, Amanda M. ; Liu, Xinyue ; Schnur, Rhonda E. ; Shapiro, Faye L. ; Brautbar, Ariel ; Estrada-Veras, Juvianee I. ; Hochstetler, Laurel ; McConkie-Rosell, Allyn ; McDonald, Marie T. ; Solomon, Benjamin D. ; Hofherr, Sean ; Richard, Gabriele ; Suchy, Sharon F.Genetics in medicine, 2021-08, Vol.23 (8), p.1514-1521 [Periódico revisado por pares]United States: Elsevier IncSem texto completo |