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The copy number variation landscape of congenital anomalies of the kidney and urinary tract.
Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, Mitrotti A, Fasel DA, Batourina E, Sampson MG, Bodria M, Werth M, Kao C, Martino J, Capone VP, Vivante A, Shril S, Kil BH, Marasà M, Zhang JY, Na YJ, Lim TY, Ahram D, Weng PL, Heinzen EL, Carrea A, Piaggio G, Gesualdo L, Manca V, Masnata G, Gigante M, Cusi D, Izzi C, Scolari F, van Wijk JAE, Saraga M, Santoro D, Conti G, Zamboli P, White H, Drozdz D, Zachwieja K, Miklaszewska M, Tkaczyk M, Tomczyk D, Krakowska A, Sikora P, Jarmoliński T, Borszewska-Kornacka MK, Pawluch R, Szczepanska M, Adamczyk P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Dobson MG, Darlow JM, Puri P, Barton DE, Furth SL, Warady BA, Gucev Z, Lozanovski VJ, Tasic V, Pisani I, Allegri L, Rodas LM, Campistol JM, Jeanpierre C, Alam S, Casale P, Wong CS, Lin F, Miranda DM, Oliveira EA, Simões-E-Silva AC, Barasch JM, Levy B, Wu N, Hildebrandt F, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Zhang F, Hakonarson H, Papaioannou VE, Mendelsohn CL, Gharavi AG, Sanna-Cherchi S. Verbitsky M, et al. Among authors: perez a. Nat Genet. 2019 Jan;51(1):117-127. doi: 10.1038/s41588-018-0281-y. Epub 2018 Dec 21. Nat Genet. 2019. PMID: 30578417 Free PMC article.
Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.
Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, Mitrotti A, Fasel DA, Batourina E, Sampson MG, Bodria M, Werth M, Kao C, Martino J, Capone VP, Vivante A, Shril S, Kil BH, Marasa M, Zhang JY, Na YJ, Lim TY, Ahram D, Weng PL, Heinzen EL, Carrea A, Piaggio G, Gesualdo L, Manca V, Masnata G, Gigante M, Cusi D, Izzi C, Scolari F, van Wijk JAE, Saraga M, Santoro D, Conti G, Zamboli P, White H, Drozdz D, Zachwieja K, Miklaszewska M, Tkaczyk M, Tomczyk D, Krakowska A, Sikora P, Jarmoliński T, Borszewska-Kornacka MK, Pawluch R, Szczepanska M, Adamczyk P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Dobson MG, Darlow JM, Puri P, Barton DE, Furth SL, Warady BA, Gucev Z, Lozanovski VJ, Tasic V, Pisani I, Allegri L, Rodas LM, Campistol JM, Jeanpierre C, Alam S, Casale P, Wong CS, Lin F, Miranda DM, Oliveira EA, Simoes-E-Silva AC, Barasch JM, Levy B, Wu N, Hildebrandt F, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Zhang F, Hakonarson H, Papaioannou VE, Mendelsohn CL, Gharavi AG, Sanna-Cherchi S. Verbitsky M, et al. Among authors: perez a. Nat Genet. 2019 Apr;51(4):764. doi: 10.1038/s41588-019-0376-0. Nat Genet. 2019. PMID: 30816350
Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies.
Martino J, Liu Q, Vukojevic K, Ke J, Lim TY, Khan A, Gupta Y, Perez A, Yan Z, Milo Rasouly H, Vena N, Lippa N, Giordano JL, Saraga M, Saraga-Babic M, Westland R, Bodria M, Piaggio G, Bendapudi PK, Iglesias AD, Wapner RJ, Tasic V, Wang F, Ionita-Laza I, Ghiggeri GM, Kiryluk K, Sampogna RV, Mendelsohn CL, D'Agati VD, Gharavi AG, Sanna-Cherchi S. Martino J, et al. Among authors: perez a. Genet Med. 2023 Dec;25(12):100983. doi: 10.1016/j.gim.2023.100983. Epub 2023 Sep 21. Genet Med. 2023. PMID: 37746849
Pathologic and molecular responses to neoadjuvant trastuzumab and/or lapatinib from a phase II randomized trial in HER2-positive breast cancer (TRIO-US B07).
Hurvitz SA, Caswell-Jin JL, McNamara KL, Zoeller JJ, Bean GR, Dichmann R, Perez A, Patel R, Zehngebot L, Allen H, Bosserman L, DiCarlo B, Kennedy A, Giuliano A, Calfa C, Molthrop D, Mani A, Chen HW, Dering J, Adams B, Kotler E, Press MF, Brugge JS, Curtis C, Slamon DJ. Hurvitz SA, et al. Among authors: perez a. Nat Commun. 2020 Nov 17;11(1):5824. doi: 10.1038/s41467-020-19494-2. Nat Commun. 2020. PMID: 33203854 Free PMC article. Clinical Trial.
Metabolic dysfunction-associated steatohepatitis (MASLD) and metabolic dysfunction-associated steatohepatitis (MASH) require urgent attention by primary care physicians and endocrinologists.
Mauricio D, Escalada J, Pérez A, Romero-Gómez M, Cusi K, Younoussi ZM, Lazarus JV. Mauricio D, et al. Among authors: perez a. Endocrinol Diabetes Nutr (Engl Ed). 2024 Apr;71(4):149-151. doi: 10.1016/j.endien.2024.01.007. Endocrinol Diabetes Nutr (Engl Ed). 2024. PMID: 38735676 No abstract available.
EEG before chimeric antigen receptor T-cell therapy and early after onset of immune effector cell-associated neurotoxicity syndrome.
Hernani R, Aiko M, Victorio R, Benzaquén A, Pérez A, Piñana JL, Hernández-Boluda JC, Amat P, Pastor-Galán I, Remigia MJ, Ferrer-Lores B, Micó M, Carbonell N, Ferreres J, Blasco-Cortés ML, Santonja JM, Dosdá R, Estellés R, Campos S, Martínez-Ciarpaglini C, Ferrández-Izquierdo A, Goterris R, Gómez M, Teruel A, Saus A, Ortiz A, Morello D, Martí E, Carretero C, Calabuig M, Tormo M, Terol MJ, Cases P, Solano C. Hernani R, et al. Among authors: perez a. Clin Neurophysiol. 2024 Apr 30;163:132-142. doi: 10.1016/j.clinph.2024.04.014. Online ahead of print. Clin Neurophysiol. 2024. PMID: 38733703 Free article.
Are any specific respiratory viruses more severe than others in recipients of allogeneic stem cell transplantation? A focus on lower respiratory tract disease.
Pérez A, Gómez D, Montoro J, Chorão P, Hernani R, Guerreiro M, Villalba M, Albert E, Carbonell-Asins JA, Hernández-Boluda JC, Navarro D, Solano C, Piñana JL. Pérez A, et al. Bone Marrow Transplant. 2024 May 10. doi: 10.1038/s41409-024-02304-4. Online ahead of print. Bone Marrow Transplant. 2024. PMID: 38730040
4,442 results