MON-605 Hypothyroidism in Erdheim-Chester Disease: Experience from a Tertiary Care National Referral Center

por Shekhar, Skand, Hannah-Shmouni, Fady, Gahl, William, Estrada-Veras, Juvianee, Brien, Kevin
Publicado 2019

Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities

por Estrada‐Veras, Juvianee I., Cabrera‐Peña, Giselle A., Pérez‐Estrella de Ferrán, Ceila
Publicado 2016

SAT614 Clinical, Laboratory And Imaging Features Associated With Central Diabetes Insipidus (Arginine Vasopressin Deficiency) In Erdheim-Chester Disease (ECD)

por Vaid, Sonal, Estrada-Veras, Juvianee, Gahl, William, Nicholas, Patronas, Dave, Rahul, Gochuico, Bernadette, O'Brien, Kevin, Hannah-Shmouni, Fady, Shekhar, Skand
Publicado 2023

Return of secondary findings in genomic sequencing: Military implications

por Hellwig, Lydia D., Turner, Clesson, Manolio, Teri A., Haigney, Mark, James, Cynthia A., Murray, Brittney, Szpisjak, Dale F., Muldoon, Sheila, Estrada‐Veras, Juvianee, Krokosky, Alyson, De Castro, Mauricio J.
Publicado 2018

Abnormal Pituitary Imaging and Associated Endocrine Dysfunctions in Erdheim-Chester Disease

por Shekhar, Skand, Irizarry-Caro, Jorge A, Sinaii, Ninet, Gahl, William, Estrada-Veras, Juvianee I, Dave, Rahul, Papadakis, Georgios Z, Patronas, Nicholas, Stratakis, Constantine A, O’Brien, Kevin, Hannah-Shmouni, Fady
Publicado 2021

Neurological manifestations of Erdheim–Chester Disease

por Boyd, 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.
Publicado 2020

Clinical and Histopathologic Features of Interstitial Lung Disease in Erdheim–Chester Disease

por Haroutunian, 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 R.
Publicado 2018

Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim–Chester Disease

por Shekhar, 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, Fady
Publicado 2021

Prevalence of Hypothyroidism in Patients With Erdheim-Chester Disease

por Shekhar, Skand, Sinaii, Ninet, Irizarry-Caro, Jorge A., Gahl, William A, Estrada-Veras, Juvianee I., Dave, Rahul, Papadakis, Georgios Z., Tirosh, Amit, Abel, Brent S., Klubo-Gwiezdzinska, Joanna, Skarulis, Monica C., Gochuico, Bernadette R., O’Brien, Kevin, Hannah-Shmouni, Fady
Publicado 2020

PB2208: CLUSTER ANALYSIS UNVEILS THE CLINICAL SPECTRUM OF ERDHEIM-CHESTER DISEASE

por Tesi, Michelangelo, Pegoraro, Francesco, Peyronel, Francesco, Mazzariol, Martina, Gelain, Elena, Koster, Matthew, Go, Ronald, Goyal, Gaurav, Collin, Matthew, Milne, Paul, Pagan, Sarah, Cohen-Aubart, Fleur, Papo, Matthias, Estrada-Veras, Juvianee, Mazor, Roei, Dagna, Lorenzo, Diamond, Eli, Vaglio, Augusto, Haroche, Julien
Publicado 2023

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

por Lin, Sheng-Jia, Vona, Barbara, Barbalho, Patricia G, Kaiyrzhanov, Rauan, Maroofian, Reza, Petree, Cassidy, Severino, Mariasavina, Stanley, Valentina, Varshney, Pratishtha, Bahena, Paulina, Alzahrani, Fatema, Alhashem, Amal, Pagnamenta, Alistair T, Aubertin, Gudrun, Estrada-Veras, Juvianee I, Hernández, Héctor Adrián Díaz, Mazaheri, Neda, Oza, Andrea, Thies, Jenny, Renaud, Deborah L, Dugad, Sanmati, McEvoy, Jennifer, Sultan, Tipu, Pais, Lynn S, Tabarki, Brahim, Villalobos-Ramirez, Daniel, Rad, Aboulfazl, Galehdari, Hamid, Ashrafzadeh, Farah, Sahebzamani, Afsaneh, Saeidi, Kolsoum, Torti, Erin, Elloumi, Houda Z, Mora, Sara, Palculict, Timothy B, Yang, Hui, Wren, Jonathan D, Fowler, Ben, Joshi, Manali, Behra, Martine, Burgess, Shawn M, Nath, Swapan K, Hanna, Michael G, Kenna, Margaret, Merritt, J Lawrence, Houlden, Henry, Karimiani, Ehsan Ghayoor, Zaki, Maha S, Haaf, Thomas, Alkuraya, Fowzan S, Gleeson, Joseph G, Varshney, Gaurav K
Publicado 2021