Search Results - "Altunoğlu, Umut"

A New Family with a Novel OTUD6B Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot by Börklü, Esra, Altunoğlu, Umut, Eraslan, Serpil, Kayserili, Hülya

“…OTUD6B, which encodes a member of the ovarian tumor domain-containing deubiquitinating enzyme, has recently been associated with autosomal recessive…”
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Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey by Berkay, Ezgi Gizem, Elkanova, Leyla, Kalaycı, Tuğba, Uludağ Alkaya, Dilek, Altunoğlu, Umut, Cefle, Kıvanç, Mıhçı, Ercan, Nur, Banu, Taşdelen, Elifcan, Bayramoğlu, Zuhal, Karaman, Volkan, Toksoy, Güven, Güneş, Nilay, Öztürk, Şükrü, Palandüz, Şükrü, Kayserili, Hülya, Tüysüz, Beyhan, Uyguner, Zehra Oya

“…Loss or decrease of function in runt‐related transcription factor 2 encoded by RUNX2 is known to cause a rare autosomal‐dominant skeletal disorder,…”
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RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian Disorder by Paul, Franziska, Ng, Calista, Sahari, Umar Bin Mohamad, Nafissi, Shahriar, Nilipoor, Yalda, Tavasoli, Ali Reza, Bonnard, Carine, Wong, Pui-Mun, Nabavizadeh, Nasrinsadat, Altunoğlu, Umut, Estiar, Mehrdad A, Majoie, Charles B, Lee, Hane, Nelson, Stanley F, Gan-Or, Ziv, Rouleau, Guy A, Van Veldhoven, Paul P, Massie, Rami, Hennekam, Raoul C, Kariminejad, Ariana, Reversade, Bruno

“…Rabenosyn (RBSN) is a conserved endosomal protein necessary for regulating internalized cargo. Here, we present clinical, genetic, cellular and biochemical…”
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Clinical and molecular genetic findings of Crisponi/cold‐induced sweating syndrome (CS/CISS) spectrum in patients from Turkey by Yilmaz Gulec, Elif, Turgut, Gozde Tutku, Gezdirici, Alper, Karaman, Volkan, Ozturk, Fatma Nihal, Avci, Sahin, Kalayci, Tugba, Senturk, Leyli, Ayaz, Akif, Kayserili, Hulya, Uyguner, Zehra Oya, Altunoğlu, Umut

“…Crisponi/cold‐induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by episodic hyperthermia, arthrogryposis, impaired…”
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PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency by Kardelen, Aslı Derya, Najafli, Adam, Baş, Firdevs, Karaman, Birsen, Toksoy, Güven, Poyrazoğlu, Şükran, Avcı, Şahin, Altunoğlu, Umut, Yavaş Abalı, Zehra, Öztürk, Ayşe Pınar, Karakılıç Özturan, Esin, Başaran, Seher, Darendeliler, Feyza, Uyguner, Z Oya

“…Recent reports have indicated the role of the prokineticin receptor 2 gene ( ) in the etiology of pituitary hormone deficiencies, suggesting a potential role…”
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Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene by Baş, Firdevs, Toksoy, Güven, Ergun-Longmire, Berrin, Uyguner, Zehra Oya, Abalı, Zehra Yavaş, Poyrazoğlu, Şükran, Karaman, Volkan, Avcı, Şahin, Altunoğlu, Umut, Bundak, Ruveyde, Karaman, Birsen, Başaran, Seher, Darendeliler, Feyza

“…A 3D structure of Cytochrome P450 11B1. Positions of all the coding region mutations in our cases are pointed by arrow, and marked by purple color for easy…”
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Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD by Akcan, Neşe, Uyguner, Oya, Baş, Firdevs, Altunoğlu, Umut, Toksoy, Güven, Karaman, Birsen, Avcı, Şahin, Yavaş Abalı, Zehra, Poyrazoğlu, Şükran, Aghayev, Agharza, Karaman, Volkan, Bundak, Rüveyde, Başaran, Seher, Darendeliler, Feyza

“…Objective: Androgen insensivity syndrome (AIS) and 5[alpha]-reductase deficiency (5[alpha]-RD) present with indistinguishable phenotypes among the 46,XY…”
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Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome by Aksu Uzunhan, Tuğçe, Ertürk, Biray, Aydın, Kürşad, Ayaz, Akif, Altunoğlu, Umut, Yarar, Murat Hakkı, Gezdirici, Alper, İçağasıoğlu, Dilara Füsun, Gökpınar İli, Ezgi, Uyanık, Bülent, Eser, Metin, Kutbay, Yaşar Bekir, Topçu, Yasemin, Kılıç, Betül, Bektaş, Gonca, Arduç Akçay, Ayfer, Ekici, Barış, Chousein, Amet, Avcı, Şahin, Yüksel, Atıl, Kayserili, Hülya

“…Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments…”
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A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations by Kardelen, Aslı Derya, Toksoy, Güven, Baş, Firdevs, Yavaş Abalı, Zehra, Gençay, Genco, Poyrazoğlu, Şükran, Bundak, Rüveyde, Altunoğlu, Umut, Avcı, Şahin, Najaflı, Adam, Uyguner, Oya, Karaman, Birsen, Başaran, Seher, Darendeliler, Feyza

“…17α-hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH), characterized by hypertension and varying degrees of…”
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Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families by Bir, Firdevs Dinçsoy, Dinçkan, Nuriye, Güven, Yeliz, Baş, Firdevs, Altunoğlu, Umut, Kuvvetli, Senem S, Poyrazoğlu, Şükran, Toksoy, Güven, Kayserili, Hülya, Oya Uyguner, Z

“…Abstract Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by skeletal anomalies such as delayed closure of the cranial sutures,…”
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Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy by Rüstemoğlu, Burcu Sevinç, Samanci, Bedia, Tepgeç, Fatih, Kürtüncü, Murat, Altunoglu, Umut, Gündüz, Tuncay, Yeşil, Gözde, Avcı, Şahin, Gürvit, Hakan, Bilgiç, Başar, Toksoy, Güven, Eraksoy, Mefkure, Hanağası, Haşmet, Uyguner, Zehra Oya

“…Objective: Most lacunar strokes are sporadic, and hypertension, diabetes, smoking, and cardiovascular diseases are among its main risk factors. Strokes caused…”
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Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD by Akcan, Neşe, Uyguner, Oya, Baş, Firdevs, Altunoğlu, Umut, Toksoy, Güven, Karaman, Birsen, Avcı, Şahin, Yavaş Abalı, Zehra, Poyrazoğlu, Şükran, Aghayev, Agharza, Karaman, Volkan, Bundak, Rüveyde, Başaran, Seher, Darendeliler, Feyza

“…Androgen insensivity syndrome (AIS) and 5α-reductase deficiency (5α-RD) present with indistinguishable phenotypes among the 46,XY disorders of sexual…”
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Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey by Toksoy, Güven, Uludağ Alkaya, Dilek, Bagirova, Gülendam, Avcı, Şahin, Aghayev, Agharza, Günes, Nilay, Altunoğlu, Umut, Alanay, Yasemin, Başaran, Seher, Berkay, Ezgi G., Karaman, Birsen, Celkan, Tiraje T., Apak, Hilmi, Kayserili, Hülya, Tüysüz, Beyhan, Uyguner, Zehra O.

“…Fanconi anemia (FA) is a rare multigenic chromosomal instability syndrome that predisposes patients to life-threatening bone marrow failure, congenital…”
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Association between HBA locus copy number gains and pathogenic HBB gene variants by Toksoy, Güven, Akay, Nergis, Aghayev, Agharza, Karaman, Volkan, Avcı, Şahin, Kalayci, Tugba, Altunoğlu, Umut, Karakaş, Zeynep, Zehra Oya Uyguner

“…INTRODUCTION: Alpha (α) and beta (β) thalassemia are the most prevalent genetic hematological disorders. The co-occurrence of silent β-thalassemia with excess…”
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FETAL BRAIN SHRINKAGE: A RARE, MYSTIFYING ANOMALY by Türkyılmaz, Gürcan, Avcı, Şahin, Altunoğlu, Umut, Ertürk, Emircan, Cantürk, Melis, Sivrikoz, Tuğba, Kalelioğlu, İbrahim, Has, Recep, Yüksel, Atıl

“…Objective: Brain shrinkage in fetal life is a dismal, misunderstood anomaly. In this report, we described a rare case of severe brain shrinkage diagnosed in…”
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MOLECULAR ANALYSIS OF FGFR1-3, TWIST1, MSX2, POR, FREM1 AND RAB23 GENES IN SYNDROMIC AND NON-SYNDROMIC CRANIOSYNOSTOSIS CASES by Karaman, Volkan, Toksoy, Güven, Karaman, Birsen, Kayserili Karabey, Hülya, Başaran, Seher, Altunoğlu, Umut, Avcı, Şahin, Uyguner, Zehra Oya

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A classical phenotype of Duchenne muscular dystrophy in a girl with X; autosome translocation by Uzunhan, Tuğce Aksu, Altunoğlu, Umut, Yıldız, Edibe Pembegul, Aydınlı, Nur

“…Dear Sir, Dystrophinopathies are diseases that affect skeletal muscles and are caused by mutations of the dystrophin gene at locus Xp21, with Duchenne muscular…”
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Sendromik ve non-sendromik kraniyosinostoz olgularında FGFR1-3, TWIST1, MSX2, POR, FREM1 ve RAB23 genlerinin moleküler analizi by Karaman,Volkan, Toksoy,Güven, Karaman,Birsen, Kayserili-Karabey,Hülya, Altunoğlu,Umut, Avcı,Şahin, Uyguner,Zehra Oya

“…Amaç: Sendromik (SCS) ve non-sendromik kraniyosinostozlu (NSCS) olgularda, kraniyosinostoz tipleriyle ilişkilendirilmiş genlerde (FGFR1-3, TWIST1, MSX2, POR,…”
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Prenatal sonographic and cytogenetic/molecular findings of 22q11.2 microdeletion syndrome in 48 confirmed cases in a single tertiary center by Sarac Sivrikoz, Tugba, Basaran, Seher, Has, Recep, Karaman, Birsen, Kalelioglu, Ibrahim Halil, Kirgiz, Melike, Altunoglu, Umut, Yuksel, Atil

“…Purpose We aimed to present the fetal ultrasound, cytogenetic/molecular testing and postmortem or postnatal clinical findings of cases with 22q11.2DS diagnosed…”
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Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey by Akinci, Baris, Onay, Huseyin, Demir, Tevfik, Ozen, Samim, Kayserili, Hulya, Akinci, Gulcin, Nur, Banu, Tuysuz, Beyhan, Nuri Ozbek, Mehmet, Gungor, Adem, Yildirim Simsir, Ilgin, Altay, Canan, Demir, Leyla, Simsek, Enver, Atmaca, Murat, Topaloglu, Haluk, Bilen, Habib, Atmaca, Hulusi, Atik, Tahir, Cavdar, Umit, Altunoglu, Umut, Aslanger, Ayca, Mihci, Ercan, Secil, Mustafa, Saygili, Fusun, Comlekci, Abdurrahman, Garg, Abhimanyu

“…Context: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near-total lack of body fat. Objective: We aimed to…”
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