Search Results - "OGUR, Gönül"

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly by Jerber, Julie, Zaki, Maha S., Al-Aama, Jumana Y., Rosti, Rasim Ozgur, Ben-Omran, Tawfeg, Dikoglu, Esra, Silhavy, Jennifer L., Caglar, Caner, Musaev, Damir, Albrecht, Beate, Campbell, Kevin P., Willer, Tobias, Almuriekhi, Mariam, Çağlayan, Ahmet Okay, Vajsar, Jiri, Bilgüvar, Kaya, Ogur, Gonul, Abou Jamra, Rami, Günel, Murat, Gleeson, Joseph G.

“…Cobblestone lissencephaly (COB) is a severe brain malformation in which overmigration of neurons and glial cells into the arachnoid space results in the…”
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Vesicourethral reflux-induced renal failure in a patient with ICF syndrome due to a novel DNMT3B mutation by Kutluğ, Seyhan, Ogur, Gönül, Yilmaz, Aysegül, Thijssen, Peter E., Abur, Ummet, Yildiran, Alisan

“…ICF syndrome is a primary immunodeficiency disease characterized by hypo‐ or agammaglobulinemia, centromeric instability mainly on chromosomes 1, 9, and 16 and…”
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Genetic burden and outcome of cystic hygromas detected antenatally: Results of 93 pregnancies from a single center in the Northern Region of Turkey by Aymelek, Huri, Oğur, Gönül, Tosun, Miǧraci, Abur, mmet, Altundaǧ, Engin, Çelik, Handan, Kurtoǧlu, Emel, Malatyalıoǧlu, Erdal, Akar, Ömer, Alper, Tayfun

“…Objective: Genetic burden, fetal malformations, and fetal outcomes of 93 fetuses with cystic hygroma (CH) are reported from a single center in Turkey. Patients…”
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Impact of Fluorescent In Situ Hybridization Aberrations and CLLU1 Expression on the Prognosis of Chronic Lymphocytic Leukemia: Presentation of 156 Patients from Turkey by Abur, Ümmet, Oğur, Gönül, Akar, Ömer Salih, Altundağ, Engin, Aymelek, Huri Sema, Özatlı, Düzgün, Turgut, Mehmet

“…This study evaluates the impact of CLLU1 expression and fluorescent in situ hybridization (FISH) analysis of a group of Turkish chronic lymphocytic leukemia…”
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t(6;9)(p23;q34) presenting acute myeloid leukemia in a child with an unsuspected 45,X/46,X,derY [?t(Yp;Yq)] chromosomal constitution: yet another Y chromosome overdosage and malignancy association by Ogur, Gönül, Duru, Feride, Ozyurek, Emel, Fisgin, Tunc

“…Development of leukemia in patients with sexual chromosome abnormalities is relatively rare and mostly involves cases of monosomy X, Turner syndrome. Here, we…”
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Premature ovarian failure due to tetrasomy X in an adolescent girl by Kara, Cengiz, Üstyol, Ala, Yılmaz, Ayşegül, Altundağ, Engin, Oğur, Gönül

“…Tetrasomy X associated with premature ovarian failure has been described in a few patients, and the parental origin of the extra X chromosomes has not been…”
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Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum by Sukalo, Maja, Fiedler, Ariane, Guzmán, Celina, Spranger, Stephanie, Addor, Marie-Claude, Mcheik, Jiad N., Oltra Benavent, Manuel, Cobben, Jan M., Gillis, Lynette A., Shealy, Amy G., Deshpande, Charu, Bozorgmehr, Bita, Everman, David B., Stattin, Eva-Lena, Liebelt, Jan, Keller, Klaus-Michael, Bertola, Débora Romeo, van Karnebeek, Clara D.M., Bergmann, Carsten, Liu, Zhifeng, Düker, Gesche, Rezaei, Nima, Alkuraya, Fowzan S., Oğur, Gönül, Alrajoudi, Abdullah, Venegas-Vega, Carlos A., Verbeek, Nienke E., Richmond, Erick J., Kirbiyik, Özgür, Ranganath, Prajnya, Singh, Ankur, Godbole, Koumudi, Ali, Fouad A. M., Alves, Crésio, Mayerle, Julia, Lerch, Markus M., Witt, Heiko, Zenker, Martin

“…ABSTRACT Johanson–Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features,…”
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Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Patients in the Black Sea Region of Turkey by Yıldıran, Alişan, Çeliksoy, Mehmet Halil, Borte, Stephan, Güner, Şükrü Nail, Elli, Murat, Fışgın, Tunç, Özyürek, Emel, Sancak, Recep, Oğur, Gönül

“…Hematopoietic stem cell transplantation is a promising curative therapy for many combined primary immunodeficiencies and phagocytic disorders. We…”
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Absence of the lateral and third ventricles associated with holoprosencephaly by Ciftcioglu, Engin, Ozyurek, Hamit, Nural, Mehmet Selim, Kopuz, Cem, Incesu, Lutfi, Ogur, Gonul

“…We describe a 6-month-old boy suffering from motor and mental retardation. All radiological features were suggestive of holoprosencephaly with no identifiable…”
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A Retrospective Evaluation of the Patients with Congenital Heart Disease in Neonatal Intensive Care Unit by Yurdakul Ertürk, Emine, Küçüködük, Sükrü, Baysal, Kemal, Ayyildiz, Pelin, Yilmaz, Aysegül, Ogur, Gönül

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Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas by HEIMANN, Pierre, EL HOUSNI, Hakim, OGUR, Gönül, WETERMAN, Marian A. J, PETTY, Elizabeth M, VASSART, Gilbert

“…A subset of childhood and young adult renal cell carcinomas displays a recurrent translocation t(X;17)(p11;q25) as the sole cytogenetic abnormality. In two…”
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A rarely seen fetal anomaly: Fraser syndrome by ÇETİNKAYA, Mehmet B, KÖKÇÜ, Arif, AYDIN, Oğuz, ULUSOY, Özlem, TOSUN, Miğraci, OĞUR, Gönül

“…Fraser Sendrom'u tespit edilen yayınlanmış yaklaşık 200 vaka sunumu ve birkaç kapsamlı inceleme vardır. Fraser Sendromu' nun kardeşler arasında %25 tekrarlama…”
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The Δccr5 Mutation Conferring Protection Against HIV-1 in Caucasian Populations Has a Single and Recent Origin in Northeastern Europe by Libert, Frédérick, Cochaux, Pascale, Beckman, Gunhild, Samson, Michel, Aksenova, Marina, Cao, Antonio, Czeizel, Andrew, Claustres, Mireille, de la Rúa, Concepción, Ferrari, Maurizio, Ferrec, Claude, Glover, Guillermo, Grinde, Bjorn, Güran, Sefik, Kucinskas, Vaidutis, Lavinha, Joao, Mercier, Bernard, Ogur, Gönül, Peltonen, Leena, Rosatelli, Cristina, Schwartz, Marianne, Spitsyn, Victor, Timar, Laszlo, Beckman, Lars, Parmentier, Marc, Vassart, Gilbert

“…The chemokine receptor CCR5 is encoded by the CMKBR5 gene located on the p21.3 region of human chromosome 3, and constitutes the major co-receptor for the…”
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Germ cell tumor showing partial trisomy 1 in a gonadectomized intersex child with monosomy X and double Y mosaicism by Ogur, Gönül, Pinarli, Faruk Güçlü, Dağdemir, Ayhan, Artan, Sevilhan, Artürk, Ender, Elli, Murat, Sezer, Ozlem Türkeli, Okten, Gülsen

“…High incidence of germ cell tumors arising from dysgenetic gonads in patients with sexual chromosome abnormalities has been described, especially in patients…”
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Prenatal diagnosis of trisomy 8 mosaicism: A case report by MALATYALIOĞLU, Erdal, ÇETİNKAYA, Mehmet B, EKİCİ, Fatma, ENSARİ, Eren, TOSUN, Miğraci, OĞUR, Gönül

“…Bu vaka sunumunda, ultrason ile tespit edilen lateral ventrikül genişliği nedeniyle kliniğimize sevk edilen parsiyel trizomi 8 vakası sunulmuştur. 26'ıncı…”
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Prenatal diagnosis of fryns syndrome: A case report by MALATYALIOĞLU, Erdal, ÇETİNKAYA, Mehmet B, TÜRE, Mehmet, TOSUN, Miğraci, ÇELİK, Handan, BEŞE, Emre, OĞUR, Gönül

“…Fryns sendromu (FS) nadir görülen bir malformasyondur. En önemli tanı kriterleri konjenital diafragmatik herni, distal ekstremite ve tırnak hipoplazisi ve…”
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Multiscale analysis of SRY‐positive 46,XX testicular disorder of sex development: Presentation of nine cases by Akar, Omer Salih, Gunes, Sezgin, Abur, Ummet, Altundag, Engin, Asci, Ramazan, Onat, Onur Emre, Ozcelik, Tayfun, Ogur, Gonul

“…46,XX testicular disorder of sex development (46,XX TDSD) is a relatively rare condition characterised by the presence of testicular tissue with 46,XX…”
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Chromosomal and Y‐chromosome microdeletion analysis in 1,300 infertile males and the fertility outcome of patients with AZFc microdeletions by Abur, Ummet, Gunes, Sezgin, Ascı, Ramazan, Altundag, Engin, Akar, Omer S., Ayas, Bulent, Karadag Alpaslan, Mediniye, Ogur, Gonul

“…The present study investigated the frequency of chromosome aberrations and AZF microdeletions in infertile patients with nonobstructive azoospermia (NOA) or…”
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A Retrospective Evaluation of the Patients with Congenital Heart Disease in Neonatal Intensive Care Unit by Ertürk, Emine Yurdakul, Küçüködük, Sükrü, Baysal, Kemal, Ayyildiz, Pelin, Yilmaz, Aysegül, Ogur, Gönül

“…Introduction: Congenital heart disease (CHD) is the most common congenital anomaly in newborns. In this study it was aimed to investigate the demographic…”
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Could familial Mediterranean fever gene mutations be related to PFAPA syndrome? by Celiksoy, Mehmet H., Ogur, Gonul, Yaman, Elif, Abur, Ummet, Fazla, Semanur, Sancak, Recep, Yildiran, Alisan

“…Background The cause and pathophysiology of PFAPA syndrome is unknown. The aim of this study was to determine all MEFV gene variants relevant to familial…”
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