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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, Ogishima … See abstract for full author list ➔ Gargano MA, et al. Among authors: perez de nanclares g. Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005. Nucleic Acids Res. 2024. PMID: 37953324 Free PMC article.
Marfan Syndrome Caused by Somatic Mosaicism in an FBN1 Splicing Mutation.
Rekondo J, Robledo-Inarritu M, Vado Y, Pérez de Nanclares G, Arós F. Rekondo J, et al. Among authors: perez de nanclares g. Rev Esp Cardiol (Engl Ed). 2016 May;69(5):520-1. doi: 10.1016/j.rec.2016.01.018. Epub 2016 Mar 30. Rev Esp Cardiol (Engl Ed). 2016. PMID: 27037046 English, Spanish. No abstract available.
No association of CTLA4 gene with celiac disease in the Basque population.
Martín-Pagola A, Pérez de Nanclares G, Vitoria JC, Bilbao JR, Ortiz L, Zubillaga P, Castaño L. Martín-Pagola A, et al. Among authors: perez de nanclares g. J Pediatr Gastroenterol Nutr. 2003 Aug;37(2):142-5. doi: 10.1097/00005176-200308000-00011. J Pediatr Gastroenterol Nutr. 2003. PMID: 12883299
ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation.
Yeste D, González-Niño C, Pérez de Nanclares G, Pérez-Nanclares G, Audi L, Castaño L, Carrascosa A. Yeste D, et al. Among authors: perez de nanclares g, perez nanclares g. Eur J Pediatr. 2009 Jan;168(1):65-9. doi: 10.1007/s00431-008-0710-5. Epub 2008 Apr 15. Eur J Pediatr. 2009. PMID: 18414894
Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients.
Garin I, Rica I, Estalella I, Oyarzabal M, Rodríguez-Rigual M, San Pedro JI, Pérez-Nanclares G, Fernández-Rebollo E, Busturia MA, Castaño L, Pérez de Nanclares G; Spanish MODY Group. Garin I, et al. Among authors: perez de nanclares g, perez nanclares g. Clin Endocrinol (Oxf). 2008 Jun;68(6):873-8. doi: 10.1111/j.1365-2265.2008.03214.x. Epub 2008 Feb 1. Clin Endocrinol (Oxf). 2008. PMID: 18248649
122 results