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IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.
van de Vosse E, Haverkamp MH, Ramirez-Alejo N, Martinez-Gallo M, Blancas-Galicia L, Metin A, Garty BZ, Sun-Tan Ç, Broides A, de Paus RA, Keskin Ö, Çağdaş D, Tezcan I, Lopez-Ruzafa E, Aróstegui JI, Levy J, Espinosa-Rosales FJ, Sanal Ö, Santos-Argumedo L, Casanova JL, Boisson-Dupuis S, van Dissel JT, Bustamante J. van de Vosse E, et al. Among authors: metin a. Hum Mutat. 2013 Oct;34(10):1329-39. doi: 10.1002/humu.22380. Epub 2013 Aug 8. Hum Mutat. 2013. PMID: 23864330 Free PMC article. Review.
Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.
Köker MY, Camcıoğlu Y, van Leeuwen K, Kılıç SŞ, Barlan I, Yılmaz M, Metin A, de Boer M, Avcılar H, Patıroğlu T, Yıldıran A, Yeğin O, Tezcan I, Sanal Ö, Roos D. Köker MY, et al. Among authors: metin a. J Allergy Clin Immunol. 2013 Nov;132(5):1156-1163.e5. doi: 10.1016/j.jaci.2013.05.039. Epub 2013 Jul 31. J Allergy Clin Immunol. 2013. PMID: 23910690
Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.
Boisson-Dupuis S, Bustamante J, El-Baghdadi J, Camcioglu Y, Parvaneh N, El Azbaoui S, Agader A, Hassani A, El Hafidi N, Mrani NA, Jouhadi Z, Ailal F, Najib J, Reisli I, Zamani A, Yosunkaya S, Gulle-Girit S, Yildiran A, Cipe FE, Torun SH, Metin A, Atikan BY, Hatipoglu N, Aydogmus C, Kilic SS, Dogu F, Karaca N, Aksu G, Kutukculer N, Keser-Emiroglu M, Somer A, Tanir G, Aytekin C, Adimi P, Mahdaviani SA, Mamishi S, Bousfiha A, Sanal O, Mansouri D, Casanova JL, Abel L. Boisson-Dupuis S, et al. Among authors: metin a. Immunol Rev. 2015 Mar;264(1):103-20. doi: 10.1111/imr.12272. Immunol Rev. 2015. PMID: 25703555 Free PMC article. Review.
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.
Oleaga-Quintas C, Deswarte C, Moncada-Vélez M, Metin A, Krishna Rao I, Kanik-Yüksek S, Nieto-Patlán A, Guérin A, Gülhan B, Murthy S, Özkaya-Parlakay A, Abel L, Martínez-Barricarte R, Pérez de Diego R, Boisson-Dupuis S, Kong XF, Casanova JL, Bustamante J. Oleaga-Quintas C, et al. Among authors: metin a. Hum Mol Genet. 2019 Feb 1;28(3):524. doi: 10.1093/hmg/ddy357. Hum Mol Genet. 2019. PMID: 30329057 Free PMC article. No abstract available.
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.
Oleaga-Quintas C, Deswarte C, Moncada-Vélez M, Metin A, Krishna Rao I, Kanık-Yüksek S, Nieto-Patlán A, Guérin A, Gülhan B, Murthy S, Özkaya-Parlakay A, Abel L, Martínez-Barricarte R, Pérez de Diego R, Boisson-Dupuis S, Kong XF, Casanova JL, Bustamante J. Oleaga-Quintas C, et al. Among authors: metin a. Hum Mol Genet. 2018 Nov 15;27(22):3919-3935. doi: 10.1093/hmg/ddy275. Hum Mol Genet. 2018. PMID: 31222290 Free PMC article.
229 results