Search Results - "Topaloglu, R"

MEFV mutations in systemic onset juvenile idiopathic arthritis by Ayaz, N. A., Özen, S., Bilginer, Y., Ergüven, M., Taşkıran, E., Yılmaz, E., Beşbaş, N., Topaloğlu, R., Bakkaloğlu, A.

“…Objectives. Autoinflammatory diseases constitute a large spectrum of monogenic diseases like FMF or cryopyrin-associated periodic syndromes (CAPS) and complex…”
Get full text

Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature by Bilginer, Y, Düzova, A, Topaloğlu, R, Batu, E D, Boduroğlu, K, Güçer, Ş, Bodur, İ, Alanay, Y

“…Spondyloenchondrodysplasia (SPENCD) is a rare autosomal recessive skeletal dysplasia caused by recessive mutations in the ACP5 gene, and it is characterized by…”
Get full text

Impact of Everolimus and Low‐Dose Cyclosporin on Cytomegalovirus Replication and Disease in Pediatric Renal Transplantation by Höcker, B., Zencke, S., Pape, L., Krupka, K., Köster, L., Fichtner, A., Dello Strologo, L., Guzzo, I., Topaloglu, R., Kranz, B., König, J., Bald, M., Webb, N. J. A., Noyan, A., Dursun, H., Marks, S., Ozcakar, Z. B., Thiel, F., Billing, H., Pohl, M., Fehrenbach, H., Schnitzler, P., Bruckner, T., Ahlenstiel‐Grunow, T., Tönshoff, B.

“…In order to investigate the hypothesis that the mammalian target of rapamycin inhibitor everolimus (EVR) shows anticytomegalovirus (CMV) activity in pediatric…”
Get full text

Disparities in Policies, Practices and Rates of Pediatric Kidney Transplantation in Europe by Harambat, J., van Stralen, K. J., Schaefer, F., Grenda, R., Jankauskiene, A., Kostic, M., Macher, M.‐A., Maxwell, H., Puretic, Z., Raes, A., Rubik, J., Sørensen, S. S., Toots, Ü., Topaloglu, R., Tönshoff, B., Verrina, E., Jager, K. J.

“…We aimed to provide an overview of kidney allocation policies related to children and pediatric kidney transplantation (KTx) practices and rates in Europe, and…”
Get full text

Psychiatric morbidity and different treatment modalities in children with chronic kidney disease by Senses Dinc, G., Cak, T., Cengel Kultur, E., Bilginer, Y., Kul, M., Topaloglu, R.

“…Chronic kidney disease (CKD) is a potentially life-threatening condition leading to various psychosocial problems associated with different treatment…”
Get full text

Lupus in a patient with cystinosis: is it drug induced? by Eroglu, F K, Besbas, N, Ozaltin, F, Topaloglu, R, Ozen, S

“…A 9-year-old girl with a diagnosis of cystinosis since 2 years of age, on cysteamine therapy, presented with complaints of serositis and arthritis, and…”
Get full text

Does Lower Urinary Tract Status Affect Renal Transplantation Outcomes in Children? by Aki, F.T, Aydin, A.M, Dogan, H.S, Donmez, M.I, Erkan, I, Duzova, A, Topaloglu, R, Tekgul, S

“…Abstract Background Lower urinary tract dysfunction (LUTD), an important cause of end stage renal disease (ESRD) in children, can adversely affect renal graft…”
Get full text

The CERTAIN Registry: A Novel, Web-Based Registry and Research Platform for Pediatric Renal Transplantation in Europe by Plotnicki, L, Kohl, C.D, Höcker, B, Krupka, K, Rahmel, A, Pape, L, Hoyer, P, Marks, S.D, Webb, N.J.A, Söylemezoglu, O, Topaloglu, R, Szabo, A.J, Seeman, T, Marlies Cornelissen, E.A, Knops, N, Grenda, R, Tönshoff, B

“…Abstract Background The results of pediatric renal transplantation have improved markedly in the last decade. However, a number of relevant clinical problems…”
Get full text

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss by Stover, E H, Borthwick, K J, Bavalia, C, Eady, N, Fritz, D M, Rungroj, N, Giersch, A B S, Morton, C C, Axon, P R, Akil, I, Al-Sabban, E A, Baguley, D M, Bianca, S, Bakkaloglu, A, Bircan, Z, Chauveau, D, Clermont, M-J, Guala, A, Hulton, S A, Kroes, H, Li Volti, G, Mir, S, Mocan, H, Nayir, A, Ozen, S, Rodriguez Soriano, J, Sanjad, S A, Tasic, V, Taylor, C M, Topaloglu, R, Smith, A N, Karet, F E

“…Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic metabolic acidosis in childhood, hypokalaemia, decreased…”
Get full text

The distribution of juvenile idiopathic arthritis in the eastern Mediterranean: results from the registry of the Turkish Paediatric Rheumatology Association by DEMIRKAYA, E, OZEN, S, AKMAN, S, BALAT, A, CAVKAYTAR, O, KAYA, B, DUZOVA, A, OZALTIN, F, TOPALOGLU, R, BESBAS, N, BAKKALOGLU, A, ARISOY, N, BILGINER, Y, OZDOGAN, H, BAKKALOGLU, S, TURKER, T, AYAZ, N. A, MAKAY, B. B, UNSAL, E, ERGUVEN, M, POYRAZOGLU, H, KASAPCOPUR, O, GOK, F

“…To analyse the demographics, main clinical and laboratory features and subtype distribution of juvenile idiopathic arthritis (JIA) in an eastern Mediterranean…”
Get full text

Anti-interleukin 1 treatment in secondary renal amyloidosis associated with autoinflammatory diseases by Topaloglu, R, Batu, ED, Orhan, D, Ozen, S, Besbas, N

Get full text

Interferon-gamma assays for the diagnosis of tuberculosis infection before using tumour necrosis factor-alpha blockers by COBANOGLU, N, OZCELIK, U, KOSE, M, TOPALOGLU, R, BESBAS, N, BAKKALOGLU, A, KIPER, N, KALYONCU, U, OZEN, S, KIRAZ, S, GURCAN, N, KAPLAN, M, DOGRU, D, YALCIN, E, PEKCAN, S

“…OBJECTIVES: Patients who receive tumour necrosis factor-alpha (TNF-α) blockers are mostly immunosuppressed. A study was performed to investigate whether an…”
Get full text

A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis by Borthwick, K J, Kandemir, N, Topaloglu, R, Kornak, U, Bakkaloglu, A, Yordam, N, Ozen, S, Mocan, H, Shah, G N, Sly, W S, Karet, F E

“…The rare bone thickening disease osteopetrosis occurs in various forms, one of which is accompanied by renal tubular acidosis (RTA), and is known as…”
Get full text

C1q deficient individuals have a wide variety of clinical presentation, quality of life and life expectancy by van Schaarenburg, R. A., Schejbel, L., Truedsson, L., Topaloglu, R., Al-Mayouf, S. M., Riordan, A., Simon, A., Kallel-Sellami, M., Arkwright, P. D., Ahlin, A., Hagelberg, S., Nielsen, S., Shayesteh, Alexander, Morales, A., Tam, S., Genel, F., Berg, S., van den Berg, J. M., Kuijpers, T. W., Olsson, R., Huizinga, T. W. J., Lankester, A. C., Trouw, L. A.

Get full text

Follow-Up of Patients With Juvenile Nephronophthisis After Renal Transplantation: A Single Center Experience by Tayfur, A.C, Besbas, N, Bilginer, Y, Ozaltin, F, Duzova, A, Bakkaloglu, M, Aki, F.T, Ozen, S, Topaloglu, R, Bakkaloglu, A

“…Abstract Background Nephronophthisis (NPHP) is the most common genetic cause of end-stage renal disease (ESRD) in the first 3 decades of life. Treatment of…”
Get full text

Mucolipidosis type III in an adolescent presenting with atypical facial features and skeletal deformities by Simsek-Kiper, P O, Topaloglu, R, Sahin, Y, Utine, G E, Boduroglu, K

“…Mucolipidosis type III (MLIII) (MIM# 252600) is an uncommon autosomal recessive disorder that results from deficiency of the multimeric enzyme,…”
Get more information

Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis by Aganna, E, Hawkins, P N, Ozen, S, Pettersson, T, Bybee, A, McKee, S A, Lachmann, H J, Karenko, L, Ranki, A, Bakkaloglu, A, Besbas, N, Topaloglu, R, Hoffman, H M, Hitman, G A, Woo, P, McDermott, M F

“…We investigated the hypothesis that low-penetrance mutations in genes (TNFRSF1A, MEFV and NALP3/CIAS1) associated with hereditary periodic fever syndromes…”
Get full text

Hyperimmunoglobulinemia D and Periodic Fever Syndrome: The Clinical Spectrum in a Series of 50 Patients by DRENTH, JOOST P.H., HAAGSMA, CEES J., VAN DER MEER, JOS W.M.

Get full text

Familial Mediterranean fever in children: report of a large series and discussion of the risk and prognostic factors of amyloidosis by SAATCI, Ü, OZEN, S, ÖZDEMIR, S, BAKKALOGLU, A, BESBAS, N, TOPALOGLU, R, ARSLAN, S

“…Familial Mediterranean fever (FMF) is a genetically transmitted disease characterized by recurrent attacks of fever and serositis. The most important…”
Get full text

Renal Transplantation in Children With Lower Urinary Tract Dysfunction of Different Origin: A Single-Center Experience by Bilginer, Y, Aki, F.T, Topaloglu, R, Tekgul, S, Demirkaya, E, Düzova, A, Besbas, N, Ozen, S, Erkan, İ, Bakkaloglu, A, Bakkaloglu, M

“…Abstract Introduction Renal transplantation in patients with lower urinary tract dysfunction (LUTD) of various origins is a challenging issue in the field of…”
Get full text