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2. Maternal fetal medicine-perinatology

Author

Tekcan, C., Naki, M. M., Özcan, N., Cebi, M., Kanadikirik, F., Has, R., Aydoadu, M., Frenz, J. P., Schröder, W., Dede, F. S., Kovalak, E. E., Gelisen, O., Dede, H., Sariisik, B., Haberal, A., Caliskan, E., Turkoz, E., Corakci, A., Ozeren, S., Yucesoy, I., Terzioglu, N., Köhler, W., Feige, A., Atad, J., Auslender, R., Bardicef, M., Calderon, I., Leron, E., Abramovici, H., Ertas, I. F., Kahyaoglu, S., Turgay, M., Sut, N., Yilmaz, B., Ozel, M., Danisman, N., Kocak, I., Üstün, C., Bese, E., Ingec, M., Borekci, B., Yilmaz, M., Kadanali, S., Ingec, M., Kadanali, S., Erdogan, F., Kumtepe, Y., Gümüs, I. I., Turhan, N. O., Tamburaci, E., Gunduz, O., Akar, M., Simsek, M., Zorlu, G., Ingec, M., Borekci, B., Kadanali, S., Balci, O., Gezginc, K., Acar, A., Akyürek, C., Kocak, I., Üstün, C., Bese, E., Biri, A., Guler, I., Himmetoglu, O., Karaoguz, M. Y., Balci, Sevim, Tanriverdi, H. A., Usal, D., Cinar, E., Barut, A., Pilanci, B., Imren, A., Öztekin, D., Kurt, S., Tinar, S., Canoruc, N., Kale, A., Kale, E., Yalinkaya, A., Akdeniz, N., Gol, M., Tuna, B., Guclu, S., Altunyurt, S., Demir, N., Biri, A., Ciftci, B., Senol, E., Haznedarohlu, S., Gucuyener, K., Gursoy, R., Kahyaoglu, S., Turgay, I., Gocmen, M., Yilmaz, B., Neslihanoglu, R., Danisman, N., Kahyaoglu, S., Turgay, I., Gocmen, M., Yilmaz, B., Ozel, M., Danisman, N., Kahyaoglu, S., Turgay, I., Kokanali, M. K., Kunt, C., Yapar, E. G., Taskin, S., Yarci, A., Bozaci, E. A., Atabekoglu, C., Söylemez, F., Taskin, S., Seval, M., Bozaci, E. A., Özmen, B., Mammadova, S., Unlü, C., Seval, M., Taskin, S., Özmen, B., Güleryüz, D., Sahincioglu, Ö., Unlü, C., Öztürk, N., Yalvac, S., Caliskan, E., Erten, A., Dölen, I., Haberal, A., Gul, A., Cebeci, A., Gedikbasi, A., Erol, O., Ceylan, Y., Tekirdag, A. I., Onan, M. A., Turp, A., Kurdoglu, M., Gunaydin, G., Kurdoglu, Z., Guler, I., Erdem, A., Himmetoglu, O., Tulumbaci, O., Onan, M. A., Turkoglu, S., Kurdoglu, M., Boyaci, B., Tiras, M. B., Kurdoglu, Z., Gunaydin, G., Kadayifci, O., Demir, S. C., Ürünsak, I. F., Özgünen, T., Evrüke, I. C., Demir, S. C., Evrüke, I. C., Özgünen, T., Kadayifci, O., Güzel, A. B., Urünsak, I. F., Uckuyu, A., Ozcimen, E. E., Nisanoglu, O., Yanik, F., Akgun, S., Kuscu, E., Sayin, N. C., Canda, M. T., Ahmet, N., Kurt, I., Varol, F. G., Erkanli, S., Caliskan, K., Bagis, T., Kilicdag, E., Tarim, E., Kuscu, E., Tutuncu, L., Ardic, N., Mungen, E., Ergur, A. R., Yergok, Y. Z., Cölcimen, N., Sahin, H. G., Kamaci, M., Bezircioglu, I., Bicer, M., Uysal, D., Yigit, S., Baloglu, A., Bezircioglu, I., Bicer, M., Karci, L., Ozder, F., Baloglu, A., Has, R., Yüksel, A., Büyükkurt, S., Tatli, B., Kalelioglu, I., Kesim, M. D., Aydin, Y., Atis, A., Gezer, A., Erkan, S., Simsek, Y., Kahraman, N., Uludag, S., Altinok, T., Kale, A., Erdemoglu, M., Akdeniz, N., Ozcan, Y., Yalinkaya, A., Köse, G., Tuncel, T., Aka, N., Kumru, P., Güven, M. A., Ciragil, P., Tutuncu, L., Ozdemir, E., Mungen, E., Ergur, A. R., Yergok, Y. Z., Güven, M. A., Aktan, E., Bozkurt, K., Güven, M. A., Kilinc, M., Ekerbicer, H., Güven, M. A., Ceylaner, S., Ceylaner, G., Gul, D., Ertas, E., Güven, M. A., Ceylaner, S., Batukan, C., Ozbek, A., Demirpolat, G., Uzel, M., Basaran, A., Bozdag, G., Dagdelen, S., Gürlek, A., Beksac, S., Arici, Özkan A., Isparta, T., Dikis, F. C., Civas, S. B., Ispahi, C., Kalelioalu, I. K., Has, R., Yüksel, A., Gilbaz, E., Ibrahimoglu, L., Ermis, H., Yildirim, A., Dane, B., Yayla, M., Dane, C., Özek, M., Kalelioglu, I. K., Has, R., Yüksel, A., Gilbaz, E., Ibrahimoglu, L., Ermis, H., Yildirim, A., Dane, B., Yayla, M., Cem, Dane, Salih, Dural, Dane, C., Yayla, M., Dane, B., Cetin, A., Kiray, M., Dane, B., Yayla, M., Dane, C., Ataoglu, E., Döventas, Y., Delier, H., Has, R., Kalelioglu, I., Büyükkurt, S., Has, R., Kalelioglu, I. K., Yüksel, A., Gilbaz, E., Ibrahimoglu, L., Ermis, H., Yildirim, A., Has, R., Kalelioglu, I. K., Yüksel, A., Gilbaz, E., Ibrahimoglu, L., Ermis, H., Yildirim, A., Yildiz, A., Köksal, A., Celik, N., Yetimalar, H., Keklik, A., Ivit, H., Cukurova, K., Hizli, D., Dilbaz, S., Acer, N., Deveci, S., Dilbaz, B., Haberal, A., Cukurova, K., Köksal, A., Yilmaz, S., Ivit, H., Yildiz, A., Yetimalar, H., Keklik, A., Bicer, Bulbul M., Karakaya, E., Pehlivan, M., Baloglu, A., Caliskan, E., Doger, E., Duman, C., Turker, G., Ozeren, S., Yucesoy, I., Caliskan, E., Doger, E., Cakiroglu, Y., Corakci, A., Ozeren, S., Caliskan, E., Turkoz, E., Ozeren, S., Corakci, A., Ozkan, S., Yucesoy, I., Caliskan, E., Cakiroglu, Y., Dundar, D., Doger, E., Caliskan, S., Ozeren, S., Cukurova, K., Köksal, A., Ivit, H., Yetimalar, H., Yildiz, A., Keklik, A., Aksakalli, V., Cukurova, K., Köksal, A., Önal, G., Yildiz, A., Ivit, H., Keklik, A., Yetimalar, H., Kesim, M. D., Demirkaya, B. Ö., Atis, A., Yavuz, M., Bozkurt, T., Ozyuncu, O., Bozdag, G., Salman, M. C., Durukan, T., Beksac, S., Onderoglu, L., Deren, O., Ayhan, A., Tufekci, C., Karalök, H., Ilter, E., Cil, L., Karalök, A. E., Akyol, H., Kesim, M. D., Demirkaya, B. Ö., Atis, A., Oruc, Ö., Ekin, M., Ülku, M., Caglar, P., Demirel, C., Güngör, T., Mollamahmutoglu, L., Usta, T., Özdemir, B., Ates, U., Numanoglu, N., Seyhan, A., Sidal, B., Akdeniz, N., Kale, A., Erdemoglu, M., Ozcan, Y., Yalinkaya, A., Ozdemir, B., Numanoglu, N., Usta, T., Ortakuz, S., Seyhan, A., Sidal, B., Seyhan, A., Numanoglu, N., Usta, T., Ortakuz, S., Öztarhan, A., Özdemir, B., Dogan, O., Ilbaz, S., Kovalak, E. E., Tarcan, A., Sariisik, B., Sivaslioglu, A., Haberal, A., Cinar, E., Tanriverdi, H. A., Akbulut, V., Sade, H., Barut, A., Dede, A., Özel, M., Günaydin, S., Ertas, E., Danisman, N., Mollamahmutoglu, L., Ates, U., Seyhan, A., Atmaca, U., Ortakuz, S., Ata, B., Akar, S., Sidal, B., Tanriverdi, H. A., Akbulut, V., Usal, D., Cinar, E., Barut, A., Vural, B., Özkan, S., Costur, P., Dalcik, H., Filiz, S., Yücesoy, I., Erdemoglu, E., Kolusari, A., Sahin, H. G., Kamaci, M., Sahin, A. V., Vural, B., Özkan, S., Tas, A., Dalcik, C., Dalcik, H., Yücesoy, G., Unlubilgin, E., Caliskan, E., Demir, B., Dilbaz, S., Sonmezer, M., Haberal, A., Erdem, M., Turp, A., Gunaydin, G., Erdem, A., Sade, H., Tanriverdi, H. A., Gezer, S., Bayar, Ü., Barut, A., Demir, B., Demir, F., Yayla, M., Api, O., Aygün, E., Kars, B., Cengizoglu, B., Bulut, S., Turan, C., Unal, O., Api, O., Ünal, O., Karageyim, Y. K., Balcik, O., Kara, Ö., Dogance, U., Akil, A., Api, M., Balsak, D., Avci, M. E., Elveren, B., Hanhan, M., Kayhan, K., Tinar, S., Ispahi, C., Mollamahmutoglu, L., Güngör, T., Özdal, B., Cavkaytar, S., Özat, M., Demirel, C., Aksakal, O., Caliskan, E., Unlubilgin, E., Cakiroglu, Y., Dilbaz, B., Dilbaz, S., Dilbaz, S., Caliskan, E., Dilbaz, B., Ozdas, E., Filiz, T., Haberal, A., Asian, E., Tarim, E., Kilicdag, E., Haydardedeoglu, B., Kuscu, E., Asian, E., Kilicdag, E., Simsek, E., Bolat, F., Haydardedeoglu, B., Ocak, S., Zeteroglu, S., Deveci, A., Gungoren, A., Borazan, E., Hakverdi, A., Zeteroglu, S., Ocak, S., Deveci, A., Gungoren, A., Andi, A., and Hakverdi, A.

Published
2005
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3. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis

Author

Hanks, Sandra, Adams, Sarah, Douglas, Jenny, Arbour, Laura, Atherton, David J., Balci, Sevim, Bode, Harald, Campbell, Mary E., Feingold, Murray, Keser, Gokhan, Kleijer, Wim, Mancini, Grazia, McGrath, John A., Muntoni, Francesco, Nanda, Arti, Teare, M. Dawn, Warman, Matthew, Pope, F. Michael, Superti-Furga, Andrea, Futreal, P. Andrew, and Rahman, Nazneen

Subjects
Gene mutations -- Research, Chromosome abnormalities -- Research, Hyaline membrane disease -- Genetic aspects, Biological sciences
Published
2003

5. A Specific Mutation in the Distant Sonic Hedgehog (SHH) Cis-Regulator (ZRS) Causes Werner Mesomelic Syndrome (WMS) While Complete ZRS Duplications Underlie Haas Type Polysyndactyly and Preaxial Polydactyly (PPD) With or Without Triphalangeal Thumb

Author

Wieczorek, Dagmar, Pawlik, Barbara, Li, Yun, Akarsu, Nurten A., Caliebe, Almuth, May, Klaus J.W., Schweiger, Bernd, Vargas, Fernando R., Balci, Sevim, Gillessen-Kaesbach, Gabriele, and Wollnik, Bernd

Published
2010
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7. ALX4 dysfunction disrupts craniofacial and epidermal development

Author

Kayserili, Hulya, Uz, Elif, Niessen, Carien, Vargel, Ibrahim, Alanay, Yasemin, Tuncbilek, Gokhan, Yigit, Gokhan, Uyguner, Oya, Candan, Sukru, Okur, Hamza, Kaygin, Serkan, Balci, Sevim, Mavili, Emin, Alikasifoglu, Mehmet, Haase, Ingo, Wollnik, Bernd, and Akarsu, Nurten Ayse

Published
2009

22. Correlation Between Down Syndrome and the Level of Placental Alkaline Phosphatase in Amniotic Fluid

Author

UÇAR, Canan, BALCI, Sevim, TUNÇBİLEK, Ergül, and ÜNSAL, İbrahim

Subjects
PLAP (placental alkaline phosphatase),Down syndrome,amniotic fluid, embryonic structures
Abstract

The aim of this study was to investigate the correlation between Down syndrome and the level of placental alkaline phosphatase (PLAP) in amniotic fluid. A total of 279 amniotic fluid samples taken between 14 and 24 gestational weeks were investigated in this study. Karyotype analysis was made in all samples. In 10 samples trisomy 21 was determined, in one sample trisomy 18, in two samples 47,XXY, in six samples various structural chromosomal anomalies and in 260 samples normal karyotype. PLAP was measured using a fluorometric heat inactivation assay. Mean PLAP multiples of normal gestational median (MOM) value in samples with Down syndrome was 0.44 MOM, and in those with normal karyotype was 1.14 MOM. In fetuses with Down syndrome, amniotic fluid PLAP levels were significantly reduced (p = 0.002). There was no difference between mean PLAP MOM values in samples with normal karyotype and in those with structural chromosomal abnormality (p = 0.47). When 0.37 MOM was accepted as a cut-off value of PLAP activity in amniotic fluid, detection rate (sensitivity) of the test was 50%, specificity was 94%, and false-positive rate was 5.8%. We conclude that PLAP levels are reduced in the amniotic fluid of women carrying a fetus with Down syndrome.

Published
2014

23. Holoprosensefali Anomalili Üç Yenidoğan Olgusunun Klinik Radyolojik ve Postmortem Bulgularının Sunulması

Author

AYDOĞDU, Sultan Durmuş, YAKUT, Ayten, IŞIKSOY, Serap, TEKİN, Neslihan, DÜNDAR, Emine, and BALCI, Sevim

Abstract

Holoprosencephaly is a congenital defect of median structures of the brain and face The more severe face abnormalities is usually associated with the severe brain defects Three patients admitted because of nasal agenesis cleft lip and palate and two of them were diagnosed as semilobar and one lobar holoprosencephaly with postmortem examination Anomalies of other organs were not found at any of them Key words: Holoprosencephaly Nasal Agenesis Premaxiller Agenesis Arrhinencephaly, Holoprosensefali anomalisi yüz ve beynin orta hat oluşumlarını kapsayan bir gelişim anomalisidir Ağır yüz anomalilerine genellikle ağır beyin anomalileri eşlik eder Burun ve filtrum yokluğu yarık dudak ve damağı ile premaksiller agenezis gösteren üç olgunun postmortem incelemesi ile ikisinde semilobar birinde alobar holoprosensefali olduğu görüldü Olguların hiçbirinde ekstrakranial anomali saptanmadı Anahtar kelimeler: Holoprosensefali Nazal Agenezis Premaksiller Agenezis Arhinensefali

Published
2014

26. Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report

Author

Balci, Sevim, Bartsch, Oliver, Yueksel-Konuk, E. Berrin, and ERGÜN, MEHMET ALİ

Abstract

We report on a six-year-old boy with typical Rubinstein-Taybi syndrome (RSTS) phenotype. Clinical findings included mental and motor retardation, patent ductus arteriosus (PDA), undescended testes, hirsutism, broad thumbs with radial angulation and broad toes, and inguinal hernia. His karyotype was normal (46, XY) and fluorescence in situ hybridization (FISH) showed no deletion of the CREBBP [cAMP response element-binding (CREB) binding protein] gene on chromosome 16p13.3. CREBBP gene sequencing also revealed normal results. We wish to present this case because this patient had typical RSTS phenotype, but normal FISH and CREBBP gene sequencing results. It could be possible that genetic heterogeneity is related with novel mutations in other genes. With the publication of such cases, their significance will be brought to the attention of researchers in this field.

Published
2008

31. The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random

Author

Maas, Nicole, Van Vooren, Steven, Hannes, Femke, Van Buggenhout, Griet, Mysliwiec, Michał, Moreau, Yves, Fagan, Kerry, Midro, Alina, Engiz, Özlem, Balci, Sevim, Parker, Marie Claire, Sznajer, Yves, Devriendt, Koen, Fryns, Jean-Pierre, Vermeesch, Joris Robert, Maas, Nicole, Van Vooren, Steven, Hannes, Femke, Van Buggenhout, Griet, Mysliwiec, Michał, Moreau, Yves, Fagan, Kerry, Midro, Alina, Engiz, Özlem, Balci, Sevim, Parker, Marie Claire, Sznajer, Yves, Devriendt, Koen, Fryns, Jean-Pierre, and Vermeesch, Joris Robert

Abstract

The t(4;8)(p16;p23) is the second most common constitutional chromosomal translocation and is caused by an ectopic meiotic recombination between the olfactory receptor gene clusters (ORGC), located on chromosome 4p and 8p. Given that ORGCs are scattered across the genome and make-up about 0.1% of the human genome we reasoned that translocations between 4p16 and other chromosomes might be mediated by ectopic recombination between different ORGC. In 13 patients, we mapped the breakpoints of either a balanced or unbalanced translocation between chromosome 4p16 and different chromosomes. For all four t(4;8) cases, the breakpoints fall within the 4p and 8pter ORGC, confirming that non-allelic homologous recombination (NAHR) between the ORGC is the main mechanism of the t(4;8) formation. For the nine other translocations, the breakpoints on chromosome 4 mapped to different loci, one of them within the ORGC and in two flanking the ORGC. In these three cases, the translocation breakpoint at the reciprocal chromosome did not contain ORGC sequences. We conclude that only the t(4;8) is mediated by NAHR between ORGC., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2007

32. Intussusception due to Inflammatory Fibroid Polyp of the Ileum. A Report of Two Cases from Türkiye

Author

Atalay, Fuat, Balci, Sevim, Kirimlioğlu, Vedat, and Dağli, Ülkü

Subjects
Benign fibrohistiocytic tumors, Inflammatory fibroid polyp of the ileum, digestive system, digestive system diseases
Abstract

Intussusception due to inflammatory fibroid polyps is a very rare entity. In this article two cases of inflammatory fibroid polyps of the ileum (A 32-year old man and a 50-year old woman) in Türkiye are described. Both patients were admitted to the hospital because of acute intestinal obstruction as a result of an intussusception caused by a polyp. The lesions were characterized by an eozinophil containing loosely structured fibrous tissue comprising an onion-skin like arrangement of reticular fibers with spindle-shaped nuclei localised in the submucosa and the base of the mucosa, and variable proliferation of fibroblasts and small vessels. The aetiology of these polyps remains obscure but they appear to be a reactive process (allergic or foreign body reaction) rather than neoplastic. Nkanze et al reported 12 cases of intussusception due to fibroid polyps in Africa. Our two cases are the first cases in Türkiye.

Published
1995

35. Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

Author

Uz, Elif, primary, Alanay, Yasemin, additional, Aktas, Dilek, additional, Vargel, Ibrahim, additional, Gucer, Safak, additional, Tuncbilek, Gokhan, additional, von Eggeling, Ferdinand, additional, Yilmaz, Engin, additional, Deren, Ozgur, additional, Posorski, Nicole, additional, Ozdag, Hilal, additional, Liehr, Thomas, additional, Balci, Sevim, additional, Alikasifoglu, Mehmet, additional, Wollnik, Bernd, additional, and Akarsu, Nurten A., additional

Published
2010
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37. A specific mutation in the distant sonic hedgehog (SHH)cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb

Author

Wieczorek, Dagmar, primary, Pawlik, Barbara, additional, Li, Yun, additional, Akarsu, Nurten A., additional, Caliebe, Almuth, additional, May, Klaus J.W., additional, Schweiger, Bernd, additional, Vargas, Fernando R., additional, Balci, Sevim, additional, Gillessen-Kaesbach, Gabriele, additional, and Wollnik, Bernd, additional

Published
2010
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46. Aberrant splicing is a common mutational mechanism inMKS1, a key player in Meckel-Gruber syndrome

Author

Frank, Valeska, primary, Ortiz Brüchle, Nadina, additional, Mager, Silke, additional, Frints, Susanna G. M., additional, Bohring, Axel, additional, du Bois, Gabriele, additional, Debatin, Irmgard, additional, Seidel, Heide, additional, Senderek, Jan, additional, Besbas, Nesrin, additional, Todt, Unda, additional, Kubisch, Christian, additional, Grimm, Tiemo, additional, Teksen, Fulya, additional, Balci, Sevim, additional, Zerres, Klaus, additional, and Bergmann, Carsten, additional

Published
2007
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