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Items: 1 to 50 of 94

1.

Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry.

Yılmaz Karapınar D, Patıroğlu T, Metin A, Çalışkan Ü, Celkan T, Yılmaz B, Karakaş Z, Karapınar TH, Akıncı B, Özkınay F, Onay H, Yeşilipek MA, Akar HH, Tüysüz G, Tokgöz H, Özdemir GN, Aslan Kıykım A, Karaman S, Kılınç Y, Oymak Y, Küpesiz A, Olcay L, Keskin Yıldırım Z, Aydoğan G, Gökçe M, İleri T, Aral YZ, Bay A, Atabay B, Kaya Z, Söker M, Özdemir Karadaş N, Özbek U, Özsait Selçuk B, Özdemir HH, Uygun V, Tezcan Karasu G, Yılmaz Ş.

Pediatr Blood Cancer. 2019 Oct;66(10):e27923. doi: 10.1002/pbc.27923. Epub 2019 Jul 19.

PMID:
31321910
2.

The relationship between malnutrition and quality of life in haemodialysis and peritoneal dialysis patients.

Günalay S, Öztürk YK, Akar H, Mergen H.

Rev Assoc Med Bras (1992). 2018 Sep;64(9):845-852. doi: 10.1590/1806-9282.64.09.845.

3.

Primary intestinal lymphangiectasia and a review of the current literature.

Altın Z, Atabay Y, Özer S, Karakoyun M, Ekmekçi S, Yürekli EY, Akar H.

Turk J Gastroenterol. 2018 Nov;29(6):714-716. doi: 10.5152/tjg.2018.18596. Review. No abstract available.

4.

The effect of hemodialysis on the body composition and cardiovascular disease markers in recently diagnosed end stage renal disease patients.

Cakiroglu U, Akdam H, Eryilmaz U, Akgullu C, Ozbek O, Büyüköztürk AK, Akar H, Yenicerioglu Y.

Rev Assoc Med Bras (1992). 2018 Apr;64(4):354-360. doi: 10.1590/1806-9282.64.04.354.

5.

The Role of Irisin, Insulin and Leptin in Maternal and Fetal Interaction

Ökdemir D, Hatipoğlu N, Kurtoğlu S, Siraz ÜG, Akar HH, Muhtaroğlu S, Kütük MS.

J Clin Res Pediatr Endocrinol. 2018 Nov 29;10(4):307-315. doi: 10.4274/jcrpe.0096. Epub 2018 May 29.

6.

Hereditary Renal Amyloidosis Associated With a Novel Apolipoprotein A-II Variant.

Prokaeva T, Akar H, Spencer B, Havasi A, Cui H, O'Hara CJ, Gursky O, Leszyk J, Steffen M, Browning S, Rosenberg A, Connors LH.

Kidney Int Rep. 2017 Jul 29;2(6):1223-1232. doi: 10.1016/j.ekir.2017.07.009. eCollection 2017 Nov. No abstract available.

7.

A Rare Cause of Reversible Splenial Lesion Syndrome: A Case Report with Epilepsy.

Piri Çınar B, Akar H, Taylan A.

Balkan Med J. 2018 Jan 20;35(1):122-123. doi: 10.4274/balkanmedj.2017.0733. Epub 2017 Sep 29. No abstract available.

8.

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients.

Chiang SCC, Wood SM, Tesi B, Akar HH, Al-Herz W, Ammann S, Belen FB, Caliskan U, Kaya Z, Lehmberg K, Patiroglu T, Tokgoz H, Ünüvar A, Introne WJ, Henter JI, Nordenskjöld M, Ljunggren HG, Meeths M, Ehl S, Krzewski K, Bryceson YT.

Front Immunol. 2017 Apr 18;8:426. doi: 10.3389/fimmu.2017.00426. eCollection 2017.

9.

JAK2 V617F MUTATION SCANNING IN PATIENTS WITH ADRENAL INCIDENTALOMA.

Ekinci F, Soyaltin UE, Kutbay YB, Yaşar HY, Demirci Yıldırım T, Akar H.

Acta Endocrinol (Buchar). 2017 Apr-Jun;13(2):150-153. doi: 10.4183/aeb.2017.150.

10.

Carborane-layered double hydroxide nanohybrids for potential targeted- and magnetically targeted-BNCT applications.

Ay AN, Akar H, Zaulet A, Viňas C, Teixidor F, Zumreoglu-Karan B.

Dalton Trans. 2017 Mar 7;46(10):3303-3310. doi: 10.1039/c7dt00100b.

PMID:
28225126
11.

Fludarabine Treatment of Patient with Chronic Lymphocytic Leukemia Induces a Digital Ischemia.

Soyaltin UE, Yuce Yildirim D, Yildirim M, Ugur MC, Ekinci F, Ceylan C, Akar H.

Case Rep Hematol. 2016;2016:7362791. Epub 2016 Nov 3.

12.

Increased plasma soluble human leukocyte antigen-G in persistent wheezy infants.

Tahan F, Eke Gungor H, Akar HH, Saraymen B.

Pediatr Int. 2017 May;59(5):530-533. doi: 10.1111/ped.13207. Epub 2017 Feb 28.

PMID:
27880031
13.

Acute ischemic stroke and severe multiorgan dysfunction due to multiple bee stings.

Guzel M, Akar H, Erenler AK, Baydin A, Kayabas A.

Turk J Emerg Med. 2016 Sep 29;16(3):126-128. eCollection 2016 Sep.

14.

Screening Fabry's disease in chronic kidney disease patients not on dialysis: a multicenter study.

Yeniçerioğlu Y, Akdam H, Dursun B, Alp A, Sağlam Eyiler F, Akın D, Gün Y, Hüddam B, Batmazoğlu M, Gibyeli Genek D, Pirinççi S, Ersoy İR, Üzüm A, Soypaçacı Z, Tanrısev M, Çolak H, Demiral Sezer S, Bozkurt G, Akyıldız UO, Akyüz Ünsal Aİ, Ünübol M, Uslu M, Eryılmaz U, Günel C, Meteoğlu İ, Yavaşoğlu İ, Ünsal A, Akar H, Okyay P.

Ren Fail. 2017 Nov;39(1):104-111. doi: 10.1080/0886022X.2016.1254656. Epub 2016 Nov 10.

15.

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.

Walne AJ, Collopy L, Cardoso S, Ellison A, Plagnol V, Albayrak C, Albayrak D, Kilic SS, Patıroglu T, Akar H, Godfrey K, Carter T, Marafie M, Vora A, Sundin M, Vulliamy T, Tummala H, Dokal I.

Haematologica. 2016 Oct;101(10):1180-1189. Epub 2016 Sep 9.

16.

Plasma glutamine and cystine are decreased and negatively correlated with endomysial antibody in children with celiac disease.

Sevinc E, Sevinc N, Akar HH, Ozelcoskun BD, Sezgin GC, Arslan D, Kendirci M.

Asia Pac J Clin Nutr. 2016;25(3):452-6. doi: 10.6133/apjcn.092015.09.

17.

Exogenously administered adenosine attenuates renal damage in streptozotocin-induced diabetic rats.

Taşkıran E, Erbaş O, Yiğittürk G, Meral A, Akar H, Taşkıran D.

Ren Fail. 2016 Sep;38(8):1276-82. doi: 10.1080/0886022X.2016.1207054. Epub 2016 Jul 14.

PMID:
27418253
18.

DOCK8 deficiency in a boy who presented with a giant aortic aneurysm between aortic root and iliac bifurcation.

Patıroğlu T, Akar HH, Doğan MS, Üzüm K.

Turk Kardiyol Dern Ars. 2016 Jun;44(4):342-5. doi: 10.5543/tkda.2015.26511.

19.

XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination.

IJspeert H, Rozmus J, Schwarz K, Warren RL, van Zessen D, Holt RA, Pico-Knijnenburg I, Simons E, Jerchel I, Wawer A, Lorenz M, Patıroğlu T, Akar HH, Leite R, Verkaik NS, Stubbs AP, van Gent DC, van Dongen JJ, van der Burg M.

Blood. 2016 Aug 4;128(5):650-9. doi: 10.1182/blood-2016-02-701029. Epub 2016 Jun 8.

20.

PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY.

Patiroglu T, Akar HH, Unal E, Chiang SC, Schlums H, Tesi B, Ozkars MY, Karakukcu M.

Genet Couns. 2016;27(1):67-76.

PMID:
27192893
21.

Combined immunodeficiencies: twenty years experience from a single center in Turkey.

Akar HH, Patiroglu T, Hershfield M, van der Burg M.

Cent Eur J Immunol. 2016;41(1):107-15. doi: 10.5114/ceji.2015.56168. Epub 2016 Jan 20.

22.

The Frequency of HLA-A, HLA-B, and HLA-DRB1 Alleles in Patients with Acute Lymphoblastic Leukemia in the Turkish Population: A Case-Control Study.

Patıroğlu T, Akar HH.

Turk J Haematol. 2016 Dec 1;33(4):339-345. doi: 10.4274/tjh.2016.0102. Epub 2016 Apr 18.

23.

Increased Postexercise Lipoxin A4 Levels in Exhaled Breath Condensate in Asthmatic Children With Exercise-Induced Bronchoconstriction.

Tahan F, Eke GH, Bicici E, Saraymen B, Akar H H.

J Investig Allergol Clin Immunol. 2016;26(1):19-24.

24.

Hematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience.

Patiroglu T, Akar HH, Unal E, Ozdemir MA, Karakukcu M.

Exp Clin Transplant. 2017 Jun;15(3):337-343. doi: 10.6002/ect.2015.0233. Epub 2016 Mar 21.

26.

A deliberately swallowed foreign body: money package.

Akay S, Günay S, Binicier ÖB, Paköz ZB, Akar H.

Endoscopy. 2015;47 Suppl 1:E602-3. doi: 10.1055/s-0035-1569668. Epub 2015 Dec 29. No abstract available.

PMID:
26714144
27.

Three faces of recombination activating gene 1 (RAG1) mutations.

Patiroglu T, Akar HH, Van Der Burg M.

Acta Microbiol Immunol Hung. 2015 Dec;62(4):393-401. doi: 10.1556/030.62.2015.4.4.

PMID:
26689875
28.

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.

Tesi B, Lagerstedt-Robinson K, Chiang SC, Ben Bdira E, Abboud M, Belen B, Devecioglu O, Fadoo Z, Yeoh AE, Erichsen HC, Möttönen M, Akar HH, Hästbacka J, Kaya Z, Nunes S, Patiroglu T, Sabel M, Saribeyoglu ET, Tvedt TH, Unal E, Unal S, Unuvar A, Meeths M, Henter JI, Nordenskjöld M, Bryceson YT.

Genome Med. 2015 Dec 18;7:130. doi: 10.1186/s13073-015-0244-1.

29.

THE INFLUENCE OF HLA-DQ2 HETERODIMERS ON THE CLINICAL FEATURES AND LABORATORY OF PATIENTS WITH CELIAC DISEASE.

Akar HH, Yıldız M, Sevinc E, Sokucu S.

Nutr Hosp. 2015 Dec 1;32(6):2594-9. doi: 10.3305/nh.2015.32.6.9733.

30.

Autosomal recessive hyper IgM syndrome associated with activation-induced cytidine deaminase gene in three Turkish siblings presented with tuberculosis lymphadenitis - Case report.

Patiroglu T, Akar HH, van der Burg M, Unal E.

Acta Microbiol Immunol Hung. 2015 Sep;62(3):267-74. doi: 10.1556/030.62.2015.3.4.

PMID:
26551569
31.
33.
34.

A case of XLF deficiency presented with diffuse large B cell lymphoma in the brain.

Patiroglu T, Akar HH, van der Burg M, Kontas O.

Clin Immunol. 2015 Dec;161(2):394-5. doi: 10.1016/j.clim.2015.06.009. Epub 2015 Jun 26. No abstract available.

PMID:
26119972
35.

Mitochondrial complex I and III mRNA levels in bipolar disorder.

Akarsu S, Torun D, Erdem M, Kozan S, Akar H, Uzun O.

J Affect Disord. 2015 Sep 15;184:160-3. doi: 10.1016/j.jad.2015.05.060. Epub 2015 Jun 10.

PMID:
26093828
36.

Acute kidney injury after near drowning: The way from the beach to hemodialysis.

Alp A, Akdam H, Meteoğlu İ, Ünsal A, Akar H, Yeniçerioğlu Y.

Hemodial Int. 2016 Jan;20(1):E1-4. doi: 10.1111/hdi.12321. Epub 2015 Jun 8.

PMID:
26058785
38.

Silent brain infarcts in two patients with zeta chain-associated protein 70 kDa (ZAP70) deficiency.

Akar HH, Patiroglu T, Akyildiz BN, Tekerek NU, Doğan MS, Doğanay S, van der Burg M, Dusunsel R.

Clin Immunol. 2015 May;158(1):88-91. doi: 10.1016/j.clim.2015.03.014. Epub 2015 Mar 22.

PMID:
25805655
39.

Exhaled breath condensate annexin A5 levels in exercise-induced bronchoconstriction in asthma: A preliminary study.

Tahan F, Akar HH, Saraymen B.

Allergol Immunopathol (Madr). 2015 Nov-Dec;43(6):538-42. doi: 10.1016/j.aller.2014.10.003. Epub 2015 Mar 18.

PMID:
25796304
40.

X-linked agammaglobulinemia in two siblings with a novel mutation in the BTK gene who presented with polyarticular juvenile idiopathic arthritis.

Patiroglu T, Akar HH, Gunduz Z, Sisko S, Ng YY.

Scand J Rheumatol. 2015;44(2):168-70. doi: 10.3109/03009742.2014.995699. No abstract available.

PMID:
25757060
41.

A patient developing anaphylaxis and sensitivity to two different GnRH analogues and a review of literature.

Ökdemir D, Hatipoğlu N, Akar HH, Gül Ü, Akın L, Tahan F, Kurtoğlu S.

J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):923-5. doi: 10.1515/jpem-2014-0402. Review.

PMID:
25719301
42.

Mitochondrial complex I and III gene mRNA levels in schizophrenia, and their relationship with clinical features.

Akarsu S, Torun D, Bolu A, Erdem M, Kozan S, Ak M, Akar H, Uzun Ö.

J Mol Psychiatry. 2014 Dec 10;2(1):6. doi: 10.1186/s40303-014-0006-9. eCollection 2014.

43.

Eosinophilic esophagitis in a girl with pollen allergy who showed trachealization.

Akar HH, Sevinc E, Akgun H, Özcan SS, Arslan D, Tahan F.

Turk J Gastroenterol. 2015 Jan;26(1):69-70. doi: 10.5152/tjg.2015.6139. No abstract available.

44.

The effects of single hemodialysis session on arterial stiffness in hemodialysis patients.

Öğünç H, Akdam H, Alp A, Gencer F, Akar H, Yeniçerioğlu Y.

Hemodial Int. 2015 Jul;19(3):463-71. doi: 10.1111/hdi.12277. Epub 2015 Feb 4.

PMID:
25650022
45.

Polyarteritis nodosa complicated by posterior reversible encephalopathy syndrome: a case report.

Alp A, Akdam H, Akar H, Koseoglu K, Ozkul A, Meteoglu I, Yenicerioglu Y.

Nefrologia. 2014 Nov 17;34(6):789-96. doi: 10.3265/Nefrologia.pre2014.Sep.12510. Epub 2014 Jun 8. English, Spanish.

46.

Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review.

Patiroglu T, Akar HH, Gilmour K, Ozdemir MA, Bibi S, Henriquez F, Burns SO, Unal E.

J Clin Immunol. 2014 Oct;34(7):792-5. doi: 10.1007/s10875-014-0077-5. Epub 2014 Aug 8. Review.

PMID:
25104208
47.

Prurigo simplex subacuta or prurigo simplex acuta?

Akar HH, Tahan F, Balkanli S, Sadet Özcan S.

Eur Ann Allergy Clin Immunol. 2014 Jul;46(4):152-3.

PMID:
25053633
48.

A selective IgA deficiency in a boy who presented recurrent parotitis.

Akar HH, Patıroglu T, Duman L.

Eur J Microbiol Immunol (Bp). 2014 Jun;4(2):144-6. doi: 10.1556/EuJMI.4.2014.2.8. Epub 2014 May 21.

49.

An association of hypochondroplasia and immune deficiency.

Patıroglu T, Akar HH, Okdemir D, Kurtoglu S.

J Pediatr Endocrinol Metab. 2014 Jul;27(7-8):783-6. doi: 10.1515/jpem-2013-0468.

PMID:
24756051
50.

Congenital IL-12R1β receptor deficiency and thrombophilia in a girl homozygous for an IL12RB1 mutation and compound heterozygous for MTFHR mutations: A case report and literature review.

Akar HH, Kose M, Ceylan O, Patiroglu T, Bustamante J, Casanova JL, Akyildiz BN, Doganay S.

Eur J Microbiol Immunol (Bp). 2014 Mar;4(1):83-7. doi: 10.1556/EuJMI.4.2014.1.8. Epub 2014 Mar 14.

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