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Page 1
The Human Phenotype Ontology in 2024: phenotypes around the world.
Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI Jr, Og… See abstract for full author list ➔ Gargano MA, et al. Among authors: cruz rojo j. Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005. Nucleic Acids Res. 2024. PMID: 37953324 Free PMC article.
The p.R56* mutation in PTHLH causes variable brachydactyly type E.
Pereda A, Garzon-Lorenzo L, Garin I, Cruz-Rojo J, Sanchez Del Pozo J, Perez de Nanclares G. Pereda A, et al. Am J Med Genet A. 2017 Mar;173(3):816-819. doi: 10.1002/ajmg.a.38067. Am J Med Genet A. 2017. PMID: 28211986 No abstract available.
GATA4 mutations are a cause of neonatal and childhood-onset diabetes.
Shaw-Smith C, De Franco E, Lango Allen H, Batlle M, Flanagan SE, Borowiec M, Taplin CE, van Alfen-van der Velden J, Cruz-Rojo J, Perez de Nanclares G, Miedzybrodzka Z, Deja G, Wlodarska I, Mlynarski W, Ferrer J, Hattersley AT, Ellard S. Shaw-Smith C, et al. Diabetes. 2014 Aug;63(8):2888-94. doi: 10.2337/db14-0061. Epub 2014 Apr 2. Diabetes. 2014. PMID: 24696446 Free PMC article.
International Analysis of Electronic Health Records of Children and Youth Hospitalized With COVID-19 Infection in 6 Countries.
Bourgeois FT, Gutiérrez-Sacristán A, Keller MS, Liu M, Hong C, Bonzel CL, Tan ALM, Aronow BJ, Boeker M, Booth J, Cruz Rojo J, Devkota B, García Barrio N, Gehlenborg N, Geva A, Hanauer DA, Hutch MR, Issitt RW, Klann JG, Luo Y, Mandl KD, Mao C, Moal B, Moshal KL, Murphy SN, Neuraz A, Ngiam KY, Omenn GS, Patel LP, Jiménez MP, Sebire NJ, Balazote PS, Serret-Larmande A, South AM, Spiridou A, Taylor DM, Tippmann P, Visweswaran S, Weber GM, Kohane IS, Cai T, Avillach P; Consortium for Clinical Characterization of COVID-19 by EHR (4CE). Bourgeois FT, et al. JAMA Netw Open. 2021 Jun 1;4(6):e2112596. doi: 10.1001/jamanetworkopen.2021.12596. JAMA Netw Open. 2021. PMID: 34115127 Free PMC article.
Making EHRs Trustable: A Quality Analysis of EHR-Derived Datasets for COVID-19 Research.
Pedrera-Jimenez M, Garcia-Barrio N, Rubio-Mayo P, Maestro G, Lalueza A, Garcia-Reyne A, Zamorro MJ, Pons A, Sanchez-Martin MJ, Cruz-Rojo J, Quiros V, Aguado JM, Cruz-Bermudez JL, Bernal JL, Merson L, Lumbreras C, Serrano P. Pedrera-Jimenez M, et al. Stud Health Technol Inform. 2022 May 25;294:164-168. doi: 10.3233/SHTI220430. Stud Health Technol Inform. 2022. PMID: 35612049
Multinational characterization of neurological phenotypes in patients hospitalized with COVID-19.
Le TT, Gutiérrez-Sacristán A, Son J, Hong C, South AM, Beaulieu-Jones BK, Loh NHW, Luo Y, Morris M, Ngiam KY, Patel LP, Samayamuthu MJ, Schriver E, Tan ALM, Moore J, Cai T, Omenn GS, Avillach P, Kohane IS; Consortium for Clinical Characterization of COVID-19 by EHR (4CE); Visweswaran S, Mowery DL, Xia Z. Le TT, et al. Sci Rep. 2021 Oct 12;11(1):20238. doi: 10.1038/s41598-021-99481-9. Sci Rep. 2021. PMID: 34642371 Free PMC article.
Outcomes and patterns of treatment in chronic myeloid leukemia, a global perspective based on a real-world data global network.
Sanz A, Ayala R, Hernández G, Lopez N, Gil-Alos D, Gil R, Colmenares R, Carreño-Tarragona G, Sánchez-Pina J, Alonso RA, García-Barrio N, Pérez-Rey D, Meloni L, Calbacho M, Cruz-Rojo J, Pedrera-Jiménez M, Serrano-Balazote P, de la Cruz J, Martínez-López J. Sanz A, et al. Blood Cancer J. 2022 Jun 24;12(6):94. doi: 10.1038/s41408-022-00692-8. Blood Cancer J. 2022. PMID: 35750670 Free PMC article. No abstract available.
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.
Quesada-Espinosa JF, Garzón-Lorenzo L, Lezana-Rosales JM, Gómez-Rodríguez MJ, Sánchez-Calvin MT, Palma-Milla C, Gómez-Manjón I, Hidalgo-Mayoral I, Pérez de la Fuente R, Arteche-López A, Álvarez-Mora MI, Camacho-Salas A, Cruz-Rojo J, Lázaro-Rodríguez I, Morales-Conejo M, Nuñez-Enamorado N, Bustamante-Aragones A, Simón de Las Heras R, Gomez-Cano MA, Ramos-Gómez P, Sierra-Tomillo O, Juárez-Rufián A, Gallego-Merlo J, Rausell-Sánchez L, Moreno-García M, Sánchez Del Pozo J. Quesada-Espinosa JF, et al. Neurogenetics. 2021 Oct;22(4):343-346. doi: 10.1007/s10048-021-00660-7. Epub 2021 Jul 23. Neurogenetics. 2021. PMID: 34296368
39 results