Search Results - "Bulut,Derya"

Mutations within The Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency by Bulut, Fatma Derya, Özdemir Dilek, Semine, Kotan, Damla, Mengen, Eda, Gürbüz, Fatih, Yüksel, Bilgin

“…Mutations of genes encoding transcription factors which play important roles in pituitary morphogenesis, differentiation and maturation lead to combined…”
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GM2 gangliosidoses: Evaluation of clinical, biochemical and genetic findings of patients with three novel mutations by Bilginer Gürbüz,Berrak, Bulut,Fatma Derya, Koç Uçar,Habibe, Sarıgeçili,Esra, Sarıkepe,Bilge, Yüreğir,Özge Özalp

“…Purpose: The aim of this study is to evaluate the diagnosis characteristics, clinic findings, phenotypical and genotypical features of children with GM2…”
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Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign by Inan, Ayse Hitay, Yilmaz, Berna Seker, Bulut, Fatma Derya, Kilavuz, Sebile, Kor, Deniz, Karakas, Mehmet, Mungan, Halise Neslihan Onenli

“…Mucopolysaccharidosis type-II (MPS-II) is an X-linked lysosomal storage disorder. Here, we report an 8-year-old boy with pebbling sign in the scapular region,…”
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Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series by Kılavuz, Sebile, Basaran, Sibel, Kor, Deniz, Bulut, Fatma Derya, Erdem, Sevcan, Ballı, Hüseyin Tuğsan, Dağkıran, Muhammed, Bisgin, Atil, Mungan, Halise Neslihan Önenli

“…This case series includes longitudinal clinical data of ten patients with Morquio A syndrome from south and southeastern parts of Turkey, which were…”
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Mukopolisakkaridozlu hastalarda vitamin B12 düzeyleri by Kor,Deniz, Bulut,Derya, Şeker Yılmaz,Berna, Kılavuz,Sebile, Önenli Mungan,Halise Neslihan

“…Amaç: Bu çalışmada farklı tiplerinde değişen oranlarda multisistemik tutuluma, nörolojik bulguların da eşlik ettiği mukopolisakkaridozlu hastalarda, serum…”
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Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy by Kalkan Uçar, Sema, Yazıcı, Havva, Canda, Ebru, Er, Esra, Bulut, Fatma Derya, Eraslan, Cenk, Onay, Hüseyin, Bax, Bridget Elizabeth, Çoker, Mahmut

“…Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive mitochondrial disorder characterized by cumulative and progressive…”
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Hiperkarotenemi by Nefise Hilal Cansever Övetti, Halise Neslihan Önenli Mungan, Berna Şeker Yılmaz, Fatma Derya Bulut

“…Bir Olgu Nedeni İle Hiperkarotenemi…”
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Evaluation of bone health in patients with mucopolysaccharidosis by Kor, Deniz, Bulut, Fatma Derya, Kılavuz, Sebile, Şeker Yılmaz, Berna, Köşeci, Burcu, Kara, Esra, Kaya, Ömer, Başaran, Sibel, Seydaoğlu, Gülşah, Önenli Mungan, Neslihan

“…Introduction This study aimed to evaluate the relationship between clinical findings, height and weight standard deviation scores, 25-hydroxyvitamin D 3…”
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Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience by Kilavuz, Sebile, Bulut, Fatma Derya, Kor, Deniz, Yilmaz, Berna Seker, Basaran, Sibel, Sarpel, Tunay, Mungan, Neslihan Onenli

“…Aim: Alkaptonuria (AKU) is an autosomal recessively inherited disease caused by a deficiency of homogentisate 1,2-dioxygenase. This enzyme converts…”
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A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome by Bulut, Fatma Derya, Kor, Deniz, Yilmaz, Berna Seker, Yilmaz, Mustafa, Altintas, Derya Ufuk, Ceylaner, Serdar, Kilavuz, Sebile, Mungan, Neslihan Onenli

“…Typical features of Netherton syndrome are congenital ichthyosiform erythroderma, atopic diathesis and trichorrhexis nodosa. Here in this report, we present a…”
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Tekrarlayan Fasiyal Paralizili bir olgu: Melkersson-Rosenthal Sendromu by Bulut, Derya Fatma, Mert, Gülen Gül, İncecik, Faruk, Hergüner, Özlem Mihriban, Altunbaşak, Şakir

“…Melkersson-Rosenthal sendromu (MRS), tekrarlayan fasiyal paralizi, orofasiyal ödem, dilde fissürle karakterize nadir bir nöromukokütanöz sendromdur…”
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First case report of Gaucher disease and Graves' thyroiditis by Mungan, Neslihan Önenli, Kor, Deniz, Kılavuz, Sebile, Bulut, Derya, Yılmaz, Berna Şeker

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Curcumin prevented human autocrine growth hormone (GH) signaling mediated NF-κB activation and miR-183-96-182 cluster stimulated epithelial mesenchymal transition in T47D breast cancer cells by Coker-Gurkan, Ajda, Bulut, Derya, Genc, Recep, Arisan, Elif-Damla, Obakan-Yerlikaya, Pınar, Palavan-Unsal, Narcin

“…Autocrine growth hormone (GH) signaling is a promoting factor for breast cancer via triggering abnormal cell growth, proliferation, and metastasis, drug…”
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Taliglucerase-alfa experience with 34 Gaucher disease patients from Turkey by Mungan, Neslihan Onenli, Coker, Mahmut, Yildirim, Gonca Kilic, Uzun, Ozlem Unal, Ersoy, Melike, Zeybek, Ayse Cigdem Aktuglu, Gunes, Seda, Arslan, Nur, Tümer, Leyla, Kilic, Mustafa, Eminoglu, Tuba, Gunduz, Mehmet, Keskin, Mehmet, Kor, Deniz, Canda, Ebru, Bulut, Derya, Ucar, Sema Kalkan

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Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients by Staufner, Christian, Peters, Bianca, Wagner, Matias, Alameer, Seham, Barić, Ivo, Broué, Pierre, Bulut, Derya, Church, Joseph A., Crushell, Ellen, Dalgıç, Buket, Das, Anibh M., Dick, Anke, Dikow, Nicola, Dionisi-Vici, Carlo, Distelmaier, Felix, Bozbulut, Neslihan Ekşi, Feillet, François, Gonzales, Emmanuel, Hadzic, Nedim, Hauck, Fabian, Hegarty, Robert, Hempel, Maja, Herget, Theresia, Klein, Christoph, Konstantopoulou, Vassiliki, Kopajtich, Robert, Kuster, Alice, Laass, Martin W., Lainka, Elke, Larson-Nath, Catherine, Leibner, Alexander, Lurz, Eberhard, Mayr, Johannes A., McKiernan, Patrick, Mention, Karine, Moog, Ute, Mungan, Neslihan Onenli, Riedhammer, Korbinian M., Santer, René, Palafoll, Irene Valenzuela, Vockley, Jerry, Westphal, Dominik S., Wiedemann, Arnaud, Wortmann, Saskia B., Diwan, Gaurav D., Russell, Robert B., Prokisch, Holger, Garbade, Sven F., Kölker, Stefan, Hoffmann, Georg F., Lenz, Dominic

“…Pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause an autosomal recessive disorder with a wide range of symptoms affecting liver, skeletal…”
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Early onset alpha-mannosidosis: A Turkish case by Mungan, Neslihan, Yilmaz, Berna Seker, Kor, Deniz, Bulut, Derya, Kılavuz, Sebile, Erdem, Sevcan

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A case with Pallister-Killian syndrome misdiagnosed as mucopolysaccharidosis by Mungan, Neslihan, Kılavuz, Sebile, Bulut, Derya, Kör, Deniz, Yılmaz, Berna, Ceylaner, Serdar

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Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey by Seker Yilmaz, Berna, Mungan, Neslihan Onenli, Kor, Deniz, Bulut, Derya, Seydaoglu, Gülşah, Öktem, Murat, Ceylaner, Serdar

“…Biotinidase deficiency (BD) is an autosomal recessive inborn error of metabolism characterized by neurologic and cutaneous symptoms and can be detected by…”
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Chanarin-Dorfman syndrome: A case report by Mungan, Neslihan Onenli, Tuncez, Ebru, Yilmaz, Berna Seker, Leblebisatan, Goksel, Kunt, Zeynep, Bulut, Derya, Kor, Deniz

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Successful cardiovascular surgery experience and enzyme replacement therapy in type 3C Gaucher disease by Mungan, Neslihan, Bulut, Derya, Salih, Orhan, Gulcan, Oner, Deniz, Ali, Erdem, Sevcan, Kor, Deniz, Yılmaz, Berna, Acar, Sebile, Ozbarlas, Nazan

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