Investigation of Genetic Defects in Severe Combined Immunodeficiency Patients from Turkey by Targeted Sequencing
Erman, B., Bilic, I., Hirschmugl, T., Salzer, E., Boztug, H., Sanal, Ö., Çağdaş Ayvaz, D., Tezcan, I., Boztug, K.
Published in Scandinavian journal of immunology (01.03.2017)
Published in Scandinavian journal of immunology (01.03.2017)
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Journal Article
Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia
Devgan, S S, Sanal, O, Doil, C, Nakamura, K, Nahas, S A, Pettijohn, K, Bartek, J, Lukas, C, Lukas, J, Gatti, R A
Published in Cell death and differentiation (01.09.2011)
Published in Cell death and differentiation (01.09.2011)
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Journal Article
Clinical and genetic features of the patients with X‐Linked agammaglobulinemia from Turkey: Single‐centre experience
Esenboga, S., Cagdas, D., Ozgur, T. T., Gur Cetinkaya, P., Turkdemir, L. M., Sanal, O., VanDerBurg, M., Tezcan, I.
Published in Scandinavian journal of immunology (01.03.2018)
Published in Scandinavian journal of immunology (01.03.2018)
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Journal Article
Course of IL-2-inducible T-cell kinase deficiency in a family: lymphomatoid granulomatosis, lymphoma and allogeneic bone marrow transplantation in one sibling; and death in the other
Çağdaş, D, Erman, B, Hanoğlu, D, Tavil, B, Kuşkonmaz, B, Aydın, B, Akyüz, C, Uçkan, D, Sanal, Ö, Tezcan, I
Published in Bone marrow transplantation (Basingstoke) (01.01.2017)
Published in Bone marrow transplantation (Basingstoke) (01.01.2017)
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Journal Article
Cernunnos deficiency: a case report
Turul, T, Tezcan, I, Sanal, O
Published in Journal of investigational allergology & clinical immunology (2011)
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Published in Journal of investigational allergology & clinical immunology (2011)
Journal Article
Reduced memory B cells in patients with hyper IgE syndrome
Speckmann, C, Enders, A, Woellner, C, Thiel, D, Rensing-Ehl, A, Schlesier, M, Rohr, J, Jakob, T, Oswald, E, Kopp, M.V, Sanal, O, Litzman, J, Plebani, A, Pietrogrande, M.C, Franco, J.L, Espanol, T, Grimbacher, B, Ehl, S
Published in Clinical immunology (Orlando, Fla.) (01.12.2008)
Published in Clinical immunology (Orlando, Fla.) (01.12.2008)
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Journal Article
H2AX gene does not have a modifier effect on ataxia-telangiectasia phenotype
Mesci, L., Ozdag, H., Yel, L., Ozgur, T. T., Tan, C., Sanal, Ö.
Published in International journal of immunogenetics (01.06.2011)
Published in International journal of immunogenetics (01.06.2011)
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Journal Article
Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene
Griscelli, Claude, Pastural, Elodie, Jabado, Nada, Fischer, Alain, Basile, Geneviève de Saint, Barrat, Franck J, Dufourcq-Lagelouse, Rémi, Sanal, Ozden, Seger, Reinhard, Certain, Stéphanie
Published in Nature genetics (01.07.1997)
Published in Nature genetics (01.07.1997)
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Journal Article
Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease
Grant, Audrey V, Boisson-Dupuis, Stéphanie, Herquelot, Eléonore, de Beaucoudrey, Ludovic, Filipe-Santos, Orchidée, Nolan, Daniel K, Feinberg, Jacqueline, Boland, Anne, Al-Muhsen, Saleh, Sanal, Ozden, Camcioglu, Yildiz, Palanduz, Ayse, Kilic, Sara Sebnem, Bustamante, Jacinta, Casanova, Jean-Laurent, Abel, Laurent
Published in Journal of medical genetics (01.08.2011)
Published in Journal of medical genetics (01.08.2011)
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Journal Article
Lymphoproliferative disorders in patients with primary immuno-deficiencies
Cinel, G, Yalcin, E, Dogru, D, Ozcelik, U, Kiper, N, Tezcan, I, Sanal, O, Ali, V, Orhan, D, Akcoren, Z, Kale, G, Oguz, B, Haliloglu, M
Published in Paediatric respiratory reviews (2011)
Published in Paediatric respiratory reviews (2011)
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Journal Article
Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease
Köker, M. Y., Van Leeuwen, K., De Boer, M., Çelmeli, F., Metin, A., Özgür, T. T., Tezcan, İ., Sanal, Ö., Roos, D.
Published in European journal of clinical investigation (01.04.2009)
Published in European journal of clinical investigation (01.04.2009)
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Journal Article
Mutations of chronic granulomatous disease in Turkish families
Köker, M. Y., Sanal, Ö., De Boer, M., Tezcan, İ., Metin, A., Ersoy, F., Roos, D.
Published in European journal of clinical investigation (01.07.2007)
Published in European journal of clinical investigation (01.07.2007)
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Journal Article
Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations
Köker, M. Y., Sanal, Ö., Van Leeuwen, K., De Boer, M., Metin, A., Patıroğlu, T., Özgür, T. T., Tezcan, I., Roos, D.
Published in European journal of clinical investigation (01.10.2009)
Published in European journal of clinical investigation (01.10.2009)
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Journal Article
Toward gene therapy for human CD3 deficiencies
Pacheco-Castro, A, Martín-Fernández, J M, Millán, R, Sanal, O, Allende, L, Regueiro, J R
Published in Human gene therapy (20.11.2003)
Published in Human gene therapy (20.11.2003)
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Journal Article
An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder)
Sanal, O, Yel, L, Kucukali, T, Gilbert-Barnes, E, Tardieu, M, Texcan, I, Ersoy, F, Metin, A, de Saint Basile, G
Published in Journal of neurology (01.07.2000)
Published in Journal of neurology (01.07.2000)
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Journal Article
Impaired IgG antibody production to pneumococcal polysaccharides in patients with ataxia-telangiectasia
SANAL, O, ERSOY, F, ZEGERS, B. J. M, YEL, L, TEZCAN, I, METIN, A, ÖZYÜREK, H, GARIBOGLU, S, FIKRIG, S, BERKEL, A. I, RIJKERS, G. T
Published in Journal of clinical immunology (01.09.1999)
Published in Journal of clinical immunology (01.09.1999)
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Journal Article
Development of systemic lupus erythematosus in a patient with selective complete C1q deficiency
BERKEL, A. I, PETRY, F, SANAL, Ö, TINAZTEPE, K, ERSOY, F, BAKKALOGLU, A, LOOS, M
Published in European journal of pediatrics (01.02.1997)
Published in European journal of pediatrics (01.02.1997)
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