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High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.
Gergics P, Smith C, Bando H, Jorge AAL, Rockstroh-Lippold D, Vishnopolska SA, Castinetti F, Maksutova M, Carvalho LRS, Hoppmann J, Martínez Mayer J, Albarel F, Braslavsky D, Keselman A, Bergadá I, Martí MA, Saveanu A, Barlier A, Abou Jamra R, Guo MH, Dauber A, Nakaguma M, Mendonca BB, Jayakody SN, Ozel AB, Fang Q, Ma Q, Li JZ, Brue T, Pérez Millán MI, Arnhold IJP, Pfaeffle R, Kitzman JO, Camper SA. Gergics P, et al. Among authors: ozel ab. Am J Hum Genet. 2021 Jul 12:S0002-9297(21)00237-8. doi: 10.1016/j.ajhg.2021.06.013. Online ahead of print. Am J Hum Genet. 2021. PMID: 34270938
Clinical features and outcomes of 76 patients with COVID-19-related multi-system inflammatory syndrome in children.
Haslak F, Barut K, Durak C, Aliyeva A, Yildiz M, Guliyeva V, Varol SE, Cebeci SO, Aygun F, Varli YZ, Ozel A, Onan SH, Kocoglu U, Erol M, Karagozlu F, Ulug N, Dedeoglu R, Sahin S, Adrovic A, Oztunc F, Kasapcopur O. Haslak F, et al. Among authors: ozel a. Clin Rheumatol. 2021 Jun 5:1-12. doi: 10.1007/s10067-021-05780-x. Online ahead of print. Clin Rheumatol. 2021. PMID: 34089099 Free PMC article.
The phenotypic spectrum associated with OTX2 mutations in humans.
Gregory LC, Gergics P, Nakaguma M, Bando H, Patti G, McCabe MJ, Fang Q, Ma Q, Ozel AB, Li JZ, Poina MM, Jorge AAL, Benedetti AFF, Lerario AM, Arnhold IJP, Mendonca BB, Maghnie M, Camper SA, Carvalho LRS, Dattani MT. Gregory LC, et al. Among authors: ozel ab. Eur J Endocrinol. 2021 May 25;185(1):121-135. doi: 10.1530/EJE-20-1453. Eur J Endocrinol. 2021. PMID: 33950863
FGL1 as a modulator of plasma D-dimer levels: Exome-wide marker analysis of plasma tPA, PAI-1, and D-dimer.
Thibord F, Song C, Pattee J, Rodriguez BAT, Chen MH, O'Donnell CJ, Kleber ME, Delgado GE, Guo X, Yao J, Taylor KD, Ozel AB, Brody JA, McKnight B, Gyorgy B, Simonsick E, Leonard HL, Carrasquilla GD, Guindo-Martinez M, Silveira A, Temprano-Sagrera G, Yanek LR, Becker DM, Mathias RA, Becker LC, Raffield LM, Kilpeläinen TO, Grarup N, Pedersen O, Hansen T, Linneberg A, Hamsten A, Watkins H, Sabater-Lleal M, Nalls MA, Trégouët DA, Morange PE, Psaty BM, Tracy RP, Smith NL, Desch KC, Cushman M, Rotter JI, de Vries PS, Pankratz ND, Folsom AR, Morrison AC, März W, Tang W, Johnson AD. Thibord F, et al. Among authors: ozel ab. J Thromb Haemost. 2021 Aug;19(8):2019-2028. doi: 10.1111/jth.15345. Epub 2021 May 30. J Thromb Haemost. 2021. PMID: 33876560
Maternal and perinatal outcomes in high compared to low risk pregnancies complicated by severe acute respiratory syndrome coronavirus 2 infection (phase 2): the World Association of Perinatal Medicine working group on coronavirus disease 2019.
D'Antonio F, Sen C, Mascio DD, Galindo A, Villalain C, Herraiz I, Arisoy R, Ovayolu A, Eroğlu H, Canales MG, Ladella S, Cojocaru L, Turan O, Turan S, Hadar E, Brzezinski-Sinai NA, Dollinger S, Uyaniklar O, Ocakouglu SR, Atak Z, Premru-Srsen T, Kornhauser-Cerar L, Druškovič M, Ples L, Gündüz R, Ağaçayak E, Schvartzman JA, Malbran MN, Liberati M, Sebastiano FD, Oronzi L, Cerra C, Buca D, Cagnacci A, Ramone A, Barra F, Carosso A, Benedetto C, Cosma S, Pintiaux A, Daelemans C, Costa E, Özel A, Muhçu M, Lopez JSJ, Alvarado C, Piqueras AL, Oliva DE, Schera GBL, Volpe N, Frusca T, Samardjiski I, Simeonova S, Papestiev IA, Hojman J, Turkcuoglu I, Cromi A, Laganà AS, Ghezzi F, Sirico A, Familiari A, Scambia G, Sukhikh ZKGT, Gorina KA, de Sa RAM, Vaz M, Feuerschuette OHM, Gatta AND, Youssef A, Donna GD, Martinez-Varea A, Loscalzo G, Morales Roselló J, Stefanovic V, Nupponen I, Nelskylä K, Ayala R, Molpeceres RG, Vázquez AP, Sandri F, Cataneo I, Lenzi M, Haberal ET, Huertas E, Sanchez A, Arango P, Bermejo A, Alcantara MMG, Göynümer G, Okuyan E, Madalina C, Guisan AC, Schulte AM, Esposito V, De Robertis V, Zdjelar S, Lackovic M, Mihajlovic S, Jekova N, Saccone G, Aslan MM, Dedda MCD, Chalid M, Canache JEM, Daskalakis G, Antsaklis P, Vega EC, Cueto E, Taccaliti C, Aykanat Y, Özlem Genç Ş, Froessler B, Radulova PA, Morano D, Bianchi B, Marino MGL, Meccariello G, Rohatgi B, Schiattarella A, Morlando M, Colacurci N, Villasco A, Biglia N, Marques ALS, Gatti A, Luvero D, Angioli R, Pittaro A, Lila A, Zlatohlávková B; On the behalf of the World Association of Perinatal Medicine working group on coronavirus disease 2019. D'Antonio F, et al. Among authors: ozel a. Am J Obstet Gynecol MFM. 2021 Jul;3(4):100329. doi: 10.1016/j.ajogmf.2021.100329. Epub 2021 Feb 20. Am J Obstet Gynecol MFM. 2021. PMID: 33621713 Free PMC article.
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