Travaux scientifiques

Prof. Dr. Ferah Genel

185 publications. La source de l’information est indiquée à côté de chaque publication.

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  1. CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis

    Blood, 2019

    DOI 10.1182/blood.2019000644 PMID 31501153 66 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  2. SKIG kullanım ilkeleri nelerdir? SKIG dozu ve sıklığı nasıl belirlenmelidir?

    2019

    Source : OpenAlex

  3. Bax Gene Polymorphism in Childhood Acute Lymphoblastic Leukemia and Evaluation of Apoptosis with Conventional Dose-Prednisolone Treatment

    Acta Oncologica Turcica, 2019

    DOI 10.5505/aot.2019.29981 Texte intégral en libre accèsSource : OpenAlex

  4. Late diagnosis of leukocyte adhesion deficiency type II and Bombay blood type in a child: a rare case report

    Central European Journal of Immunology, 2019

    DOI 10.5114/ceji.2019.87073 PMID 31530991 3 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  5. Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13

    Journal of Pediatric Endocrinology and Metabolism, 2019

    DOI 10.1515/jpem-2019-0377 PMID 31809266 12 citations (OpenAlex) Source : OpenAlex

  6. Characteristics of the patients followed with the diagnosis of common variable immunodeficiency and the complications

    Central European Journal of Immunology, 2019

    DOI 10.5114/ceji.2019.87060 PMID 31530980 9 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  7. Mutations affecting the actin regulator WD repeat–containing protein 1 lead to aberrant lymphoid immunity

    Journal of Allergy and Clinical Immunology, 2018

    DOI 10.1016/j.jaci.2018.04.023 PMID 29751004 79 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  8. Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

    Proceedings of the National Academy of Sciences, 2018

    DOI 10.1073/pnas.1805437115 PMID 30072435 45 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  9. Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages

    Scandinavian Journal of Immunology, 2018

    DOI 10.1111/sji.12737 PMID 30506560 23 citations (OpenAlex) Source : OpenAlex

  10. Familial inheritance and screening of first-degree relatives in common variable immunodeficiency and immunoglobulin A deficiency patients

    International Journal of Immunopathology and Pharmacology, 2018

    DOI 10.1177/2058738418779458 PMID 29978731 19 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  11. Neurodevelopmental evaluation of children with cyanotic congenital heart disease

    Minerva Pediatrics, 2018

    DOI 10.23736/s0026-4946.17.04265-7 PMID 26041003 6 citations (OpenAlex) Source : OpenAlex

  12. The Significance of B-cell Subsets in Patients with Unclassified Hypogammaglobulinemia and Association with Intravenous Immunoglobulin Replacement Requirement.

    PubMed, 2018

    DOI 10.22034/iji.2018.39336 PMID 29549228 6 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  13. The relationship between hypernatremia and breast milk sodium levels in newborns with hypernatremic dehydration

    The European Research Journal, 2018

    DOI 10.18621/eurj.373386 3 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  14. Inherited Classical and Alternative Pathway Complement Deficiencies in Children: A Single Center Experience.

    PubMed, 2018

    DOI 10.22034/iji.2018.39400 PMID 30593745 2 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  15. Evaluation of symptomatic cytomegalovirus infections in our hospital between 2004 and 2009

    Journal of Dr Behcet Uz Children s Hospital, 2018

    DOI 10.5222/buchd.2018.15010 Texte intégral en libre accèsSource : OpenAlex

  16. Neurodevelopmental outcome of children with congenital hypothyroidism diagnosed in a national screening program in Turkey

    Indian Pediatrics, 2017

    DOI 10.1007/s13312-017-1111-5 PMID 28368265 14 citations (OpenAlex) Source : OpenAlex

  17. A harmless clinical condition presenting with dramatic elevation of alkaline phosphatase: bening transient hyperphosphatasemia of childhood

    The Anatolian Journal of General Medical Research, 2017

    DOI 10.5222/terh.2017.061 2 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  18. Tuberculosis masked by immunodeficiency: a review of two cases diagnosed with chronic granulomatous disease

    Tuberkuloz ve Toraks, 2017

    DOI 10.5578/tt.22093 PMID 28621249 1 citation (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  19. SIDE EFFECTS AND CONTRIBUTING FACTORS OF INTRAVENOUS IMMUNOGLOBULIN REPLACEMENT THERAPY IN PATIENTS WITH PRIMARY IMMUNODEFICIENCIES

    2017

    DOI 10.26226/morressier.594a7d48d462b8028d893983 Source : OpenAlex

  20. Parameters indicative of persistence of valvular pathology at initial diagnosis in acute rheumatic carditis: the role of albumin and CD19 expression

    Jornal de Pediatria, 2016

    DOI 10.1016/j.jped.2016.01.013 PMID 27553592 3 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  21. Parameters indicative of persistence of valvular pathology at initial diagnosis in acute rheumatic carditis: the role of albumin and CD19 expression

    Jornal de Pediatria (Versão em Português), 2016

    DOI 10.1016/j.jpedp.2016.08.014 Texte intégral en libre accèsSource : OpenAlex

  22. Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes TH17 cell differentiation

    Journal of Allergy and Clinical Immunology, 2016

    DOI 10.1016/j.jaci.2016.04.023 PMID 27350570 96 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  23. Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases

    Case Reports in Immunology, 2016

    DOI 10.1155/2016/5459029 PMID 27699073 26 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  24. STAT3 mutation presenting with atopic dermatitis

    Journal of Clinical & Cellular Immunology, 2016

    DOI 10.4172/2155-9899.c1.028 4 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  25. Five years of experience in transient hypogammaglobulinemia of infancy

    Journal of Dr Behcet Uz Children s Hospital, 2016

    DOI 10.5222/buchd.2016.209 Texte intégral en libre accèsSource : OpenAlex

  26. PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY WITH TUBERCULOSIS AND CLINICAL OUTCOME AFTER HEMATOPOIETIC STEM CELL TRANSPLANTATION

    2016

    DOI 10.26226/morressier.57bc1757d462b80290b4ced2 Source : OpenAlex

  27. DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients

    Journal of Clinical Immunology, 2015

    DOI 10.1007/s10875-014-0126-0 PMID 25627830 320 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  28. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

    Journal of Allergy and Clinical Immunology, 2015

    DOI 10.1016/j.jaci.2014.12.1945 PMID 25724123 200 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  29. Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency

    Journal of Autoimmunity, 2015

    DOI 10.1016/j.jaut.2015.06.002 PMID 26119135 46 citations (OpenAlex) Source : OpenAlex

  30. Case report Asplenia in children with congenital heart disease as a cause of poor outcome

    Central European Journal of Immunology, 2015

    DOI 10.5114/ceji.2015.52841 PMID 26557043 8 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  31. Adenosine Deaminase-Deficient Severe Combined Immunodeficiency and Diffuse Large B-Cell Lymphoma

    Pediatric Allergy Immunology and Pulmonology, 2015

    DOI 10.1089/ped.2014.0478 6 citations (OpenAlex) Source : OpenAlex

  32. Case report Coexistence of hereditary angioedema in a case of familial Mediterranean fever with partial response to colchicine

    Central European Journal of Immunology, 2015

    DOI 10.5114/ceji.2015.50843 PMID 26155193 3 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  33. Abdominal Tuberculosis in a Child With Interleukin-12 Receptor Beta 1 Deficiency

    Infectious Diseases in Clinical Practice, 2015

    DOI 10.1097/ipc.0000000000000304 1 citation (OpenAlex) Source : OpenAlex

  34. INTRAKRANİAL HEMORAJİ İLE İLİŞKİLİ CANDİDA MENENJİTİ

    DergiPark (Istanbul University), 2015

    Texte intégral en libre accèsSource : OpenAlex

  35. Do Elevated Serum IgM Levels Have to Be Included in Probable Diagnosis Criteria of Patients with Ataxia-Telangiectasia?

    International Journal of Immunopathology and Pharmacology, 2014

    DOI 10.1177/039463201402700312 PMID 25280033 16 citations (OpenAlex) Source : OpenAlex

  36. The Extended Clinical Phenotype of 58 Patients with Dock8 Deficiency

    UCL Discovery (University College London), 2014

    DOI 10.25405/ncl.34244802 4 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  37. Two Cases with Pseudohypoaldosteronism

    Güncel Pediatri, 2014

    DOI 10.4274/jcp.66376 2 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  38. An infant presenting with acute gastroenteritis and intestinal edema and diagnosed as Kawasaki disease: Case report

    Journal of Dr Behcet Uz Children s Hospital, 2014

    DOI 10.5222/buchd.2014.148 2 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  39. PS-024 Neurodevelopmental Examination By Bayley Scale Of Infant Development-ii In Children With Cyanotic Congenital Heart Disease

    Congenital Heart Disease, 2014

    DOI 10.1136/archdischild-2014-307384.319 1 citation (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  40. C1q deficient individuals have a wide variety of clinical presentation, quality of life and life expectancy

    Data Archiving and Networked Services (DANS), 2014

    Source : OpenAlex

  41. The Extended Clinical Phenotype of 58 Patients with Dock8 Deficiency

    Bursa Uludag University - AVESIS, 2014

    Source : OpenAlex

  42. The clinical importance of myeloid antigen coexpression and TEL-AML1 mutation in patients with childhood acute lymphoblastic leukemia

    Journal of Clinical and Experimental Investigations, 2013

    DOI 10.5799/ahinjs.01.2013.01.0240 Texte intégral en libre accèsSource : OpenAlex

  43. Transfusion reactions in neonates

    Journal of Dr Behcet Uz Children s Hospital, 2013

    DOI 10.5222/buchd.2013.117 Source : OpenAlex

  44. The demographic datas of chronic granulomatous disease patients and the comparation of the clinical datas before and after interferon-gamma treatment in our country

    Bursa Uludag University - AVESIS, 2013

    2 citations (OpenAlex) Source : OpenAlex

  45. Diagnostic value of platelet parameters in neonatal sepsis

    Journal of Dr Behcet Uz Children s Hospital, 2013

    DOI 10.5222/buchd.2012.010 1 citation (OpenAlex) Source : OpenAlex

  46. Developmental problems in infants diagnosed as congenital cytomegalovirus infection

    Journal of Dr Behcet Uz Children s Hospital, 2013

    DOI 10.5222/buchd.2013.049 Source : OpenAlex

  47. Ülkemizde kronik granülomatöz hastalık tanılı olguların demografik verileri ve interferon-gama tedavisi öncesi ve sonrası klinik verilerinin karşılaştırılması

    Bursa Uludag University - AVESIS, 2013

    Source : OpenAlex

  48. Evaluation of adhesion molecules CD64, CD11b and CD62L in neutrophils and monocytes of peripheral blood for early diagnosis of neonatal infection

    World Journal of Pediatrics, 2012

    DOI 10.1007/s12519-011-0304-6 PMID 21874613 33 citations (Europe PMC) Source : ORCID

  49. Case of purine nucleoside phosphorylase deficiency presented with hematuria

    Open Journal of Pediatrics, 2012

    DOI 10.4236/ojped.2012.24044 3 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  50. Molecular Analysis and Clinical Findings of Griscelli Syndrome Patients

    Journal of Pediatric Hematology/Oncology, 2012

    DOI 10.1097/mph.0b013e31826781ad PMID 22983416 15 citations (OpenAlex) Source : OpenAlex