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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1977 1
1978 1
1979 2
1980 1
1981 3
1982 2
1983 4
1984 2
1985 4
1986 1
1987 2
1989 3
1990 7
1991 4
1992 5
1993 4
1994 4
1995 4
1996 8
1997 4
1998 5
1999 8
2000 9
2001 5
2002 8
2003 9
2004 6
2005 2
2006 8
2007 7
2008 6
2009 8
2010 4
2011 10
2012 11
2013 8
2014 8
2015 9
2016 9
2017 7
2018 5
2019 2
2021 4
2022 3
2023 1
2024 1

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211 results

Results by year

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Page 1
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
Neonatal tuberculosis.
Gögüş S, Umer H, Akçören Z, Sanal O, Osmanlioglu G, Cimbiş M. Gögüş S, et al. Among authors: sanal o. Pediatr Pathol. 1993 May-Jun;13(3):299-304. doi: 10.3109/15513819309048216. Pediatr Pathol. 1993. PMID: 8516224
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: sanal o. Immunol Rev. 2015 Mar;264(1):103-20. doi: 10.1111/imr.12272. Immunol Rev. 2015. PMID: 25703555 Free PMC article. Review.
Diversity in Serine/Threonine Protein Kinase-4 Deficiency and Review of the Literature.
Cagdas D, Halacli SO, Tan C, Esenboga S, Karaatmaca B, Cetinkaya PG, Balcı-Hayta B, Ayhan A, Uner A, Orhan D, Boztug K, Ozen S, Topaloglu R, Sanal O, Tezcan I. Cagdas D, et al. Among authors: sanal o. J Allergy Clin Immunol Pract. 2021 Oct;9(10):3752-3766.e4. doi: 10.1016/j.jaip.2021.05.032. Epub 2021 Jun 17. J Allergy Clin Immunol Pract. 2021. PMID: 34146746 Review.
Hematologically important mutations: leukocyte adhesion deficiency (first update).
van de Vijver E, Maddalena A, Sanal Ö, Holland SM, Uzel G, Madkaikar M, de Boer M, van Leeuwen K, Köker MY, Parvaneh N, Fischer A, Law SK, Klein N, Tezcan FI, Unal E, Patiroglu T, Belohradsky BH, Schwartz K, Somech R, Kuijpers TW, Roos D. van de Vijver E, et al. Among authors: sanal o. Blood Cells Mol Dis. 2012 Jan 15;48(1):53-61. doi: 10.1016/j.bcmd.2011.10.004. Epub 2011 Nov 30. Blood Cells Mol Dis. 2012. PMID: 22134107 Free PMC article. Review.
Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.
Karaatmaca B, Cagdas D, Esenboga S, Erman B, Tan C, Turul Ozgur T, Boztug K, van der Burg M, Sanal O, Tezcan I. Karaatmaca B, et al. Among authors: sanal o. Clin Exp Immunol. 2024 Feb 7;215(2):160-176. doi: 10.1093/cei/uxad110. Clin Exp Immunol. 2024. PMID: 37724703 Free PMC article.
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: sanal o. 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.
CVID Associated with Systemic Amyloidosis.
Esenboga S, Çagdas Ayvaz D, Saglam Ayhan A, Peynircioglu B, Sanal O, Tezcan I. Esenboga S, et al. Among authors: sanal o. Case Reports Immunol. 2015;2015:879179. doi: 10.1155/2015/879179. Epub 2015 Aug 4. Case Reports Immunol. 2015. PMID: 26346511 Free PMC article.
211 results