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Page 1
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Zhang P, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Tayoun AA, Aiuti A, Darazam IA, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, El Zein L, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Akcan OM, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, Pérez de Diego R, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, von Bernuth H, Lermine A, Vidaud M, Boland… See abstract for full author list ➔ Matuozzo D, et al. Among authors: hatipoglu n. medRxiv [Preprint]. 2022 Oct 25:2022.10.22.22281221. doi: 10.1101/2022.10.22.22281221. medRxiv. 2022. PMID: 36324795 Free PMC article. Updated. Preprint.
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children.
Bastard P, Gervais A, Taniguchi M, Saare L, Särekannu K, Le Voyer T, Philippot Q, Rosain J, Bizien L, Asano T, Garcia-Prat M, Parra-Martínez A, Migaud M, Tsumura M, Conti F, Belot A, Rivière JG, Morio T, Tanaka J, Javouhey E, Haerynck F, Duvlis S, Ozcelik T, Keles S, Tandjaoui-Lambiotte Y, Escoda S, Husain M, Pan-Hammarström Q, Hammarström L, Ahlijah G, Abi Haidar A, Soudee C, Arseguel V, Abolhassani H, Sahanic S, Tancevski I, Nukui Y, Hayakawa S, Chrousos GP, Michos A, Tatsi EB, Filippatos F, Rodriguez-Palmero A, Troya J, Tipu I, Meyts I, Roussel L, Ostrowski SR, Schidlowski L, Prando C, Condino-Neto A, Cheikh N, Bousfiha AA, El Bakkouri J; COVID Clinicians; GEN-COVID Study Group; COVID Human Genetic Effort; Peterson P, Pujol A, Lévy R, Quartier P, Vinh DC, Boisson B, Béziat V, Zhang SY, Borghesi A, Pession A, Andreakos E, Marr N, Mentis AA, Mogensen TH, Rodríguez-Gallego C, Soler-Palacin P, Colobran R, Tillmann V, Neven B, Trouillet-Assant S, Brodin P, Abel L, Jouanguy E, Zhang Q, Martinón-Torres F, Salas A, Gómez-Carballa A, Gonzalez-Granado LI, Kisand K, Okada S, Puel A, Cobat A, Casanova JL. Bastard P, et al. J Exp Med. 2024 Feb 5;221(2):e20231353. doi: 10.1084/jem.20231353. Epub 2024 Jan 4. J Exp Med. 2024. PMID: 38175961 Free PMC article.
Clinical and Laboratory Characteristics of MODY (Maturity Onset Diabetes of Young) Cases, Genetic Mutation Spectrum and Phenotype-genotype Relationship.
Özsu E, Çetinkaya S, Bolu S, Hatipoğlu N, Savaş Erdeve Ş, Evliyaoğlu O, Baş F, Çayır A, Dündar İ, Akbaş ED, Uçaktürk SA, Berberoğlu M, Şıklar Z, Özalkak Ş, Muratoğlu Şahin N, Keskin M, Şiraz ÜG, Turan H, Öztürk AP, Mengen E, Sağsak E, Dursun F, Akyürek N, Odabaşı Guneş S, Aycan Z. Özsu E, et al. Among authors: hatipoglu n. J Clin Res Pediatr Endocrinol. 2024 Apr 26. doi: 10.4274/jcrpe.galenos.2024.2023-10-16. Online ahead of print. J Clin Res Pediatr Endocrinol. 2024. PMID: 38665000 Free article.
High frequency of transient congenital hypothyroidism among infants referred for suspected congenital hypothyroidism from the Turkish National screening program: thyroxine dose may guide the prediction of transients.
Özer Y, Anık A, Sayılı U, Tercan U, Deveci Sevim R, Güneş S, Buhur Pirimoğlu M, Elmaoğulları S, Dündar I, Ökdemir D, Besci Ö, Jalilova A, Çiçek D, Singin B, Ulu ŞE, Turan H, Albayrak S, Kocabey Sütçü Z, Eklioğlu BS, Eren E, Çetinkaya S, Savaş-Erdeve Ş, Esen I, Demir K, Darcan Ş, Hatipoğlu N, Parlak M, Dursun F, Şıklar Z, Berberoğlu M, Keskin M, Orbak Z, Tezel B, Yürüker E, Keskinkılıç B, Kara F, Erginöz E, Darendeliler F, Evliyaoğlu O. Özer Y, et al. Among authors: hatipoglu n. J Endocrinol Invest. 2024 Mar 28. doi: 10.1007/s40618-024-02348-9. Online ahead of print. J Endocrinol Invest. 2024. PMID: 38546931
Adherence to Growth Hormone Treatment in Children During COVID-19 Pandemic.
Eren E, Çetinkaya S, Denkboy Ongen Y, Tercan U, Darcan Ş, Turan H, Aydın M, Yavuzyılmaz F, Kilci F, Selver Eklioğlu B, Hatipoğlu N, Yuksek Acinikli K, Orbak Z, Çamtosun E, Savaş Erdeve Ş, Arslan E, Ercan O, Darendeliler F. Eren E, et al. Among authors: hatipoglu n. J Clin Res Pediatr Endocrinol. 2024 Mar 15. doi: 10.4274/jcrpe.galenos.2024.2023-10-8. Online ahead of print. J Clin Res Pediatr Endocrinol. 2024. PMID: 38488049 Free article.
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Tayoun AA, Aiuti A, Darazam IA, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, Zein LE, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Akcan OM, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, von Bernut… See abstract for full author list ➔ Matuozzo D, et al. Among authors: hatipoglu n. Genome Med. 2024 Jan 6;16(1):6. doi: 10.1186/s13073-023-01278-0. Genome Med. 2024. PMID: 38184654 Free PMC article. No abstract available.
Evaluation of 601 children with multisystem inflammatory syndrome (Turk MISC study).
Yilmaz D, Ekemen Keles Y, Emiroglu M, Duramaz BB, Ugur C, Aldemir Kocabas B, Celik T, Ozdemir H, Bayturan S, Turel O, Erdeniz EH, Cakici O, Cakmak Taskin E, Erbas İC, Genceli M, Sari EE, Caymaz C, Kizil MC, Sutcu M, Demirbuga A, Alkan G, Bagcı Z, Timurtas Dayar G, Ozkan EA, Tekin Yilmaz A, Akca M, Yesil E, Kara SS, Akturk H, Yasar B, Umit Z, Uygun H, Erdem N, Buyukcam A, Karadag Oncel E, Tuter Oz SK, Cetin HS, Anil AB, Yilmaz R, Zengin N, Uzuner S, Albayrak H, Borakay O, Topal S, Arslan G, Yazar A, Ozer A, Kendirli T, Kara EM, Demirkol D, Battal F, Kosker M, Metin Akcan O, Kihtir HS, Gul D, Zararci K, Alakaya M, Kula N, Celik E, Petmezci E, Evren G, Kara Aksay A, Konca C, Sert A, Arslan D, Bornaun H, Tekeli O, Bal A, Sahin IO, Demir S, Sap F, Akyol MB, Tanidir IC, Donmez YN, Ucar T, Coban S, Arga G, Hancerli Torun S, Karpuz D, Celik SF, Varan C, Elmali F, Oncel S, Belet N, Hatipoglu N, Dalgic Karabulut N, Turgut M, Somer A, Kuyucu N, Dinleyici EC, Ciftci E, Kara A. Yilmaz D, et al. Among authors: hatipoglu n. Eur J Pediatr. 2023 Dec;182(12):5531-5542. doi: 10.1007/s00431-023-05207-6. Epub 2023 Oct 2. Eur J Pediatr. 2023. PMID: 37782350
218 results