Works matching AU Torun, Deniz

Results: 29

BDNF and GAD<sub>65</sub> Responses of Primary Auditory Cortex and Inferior Colliculus to Noise Exposure and Cochlear Ablation.

Published in:

Journal of International Advanced Otology, 2012, v. 8, n. 2, p. 187

By:

Erol, Umut;
Satar, Bulent;
Kozan, Salih;
Ates, Kahraman;
Torun, Deniz;
Goksoy, Cuneyt;
Hidir, Yusuf;
Guran, Sefik

Publication type:

Article

High frequency of MEFV gene mutations in patients with myeloid neoplasm.

Published in:

2010

By:

Oktenli, Cagatay;
Sayan, Ozkan;
Celik, Serkan;
Erikci, Alev;
Tunca, Yusuf;
Terekeci, Hakan;
Umur, Elcin;
Sanisoglu, Yavuz;
Torun, Deniz;
Tangi, Fatih;
Sahan, Burak;
Nalbant, Selim;
Erikci, Alev A;
Terekeci, Hakan M;
Umur, Elcin Erkuvan;
Sanisoglu, Yavuz S

Publication type:

journal article

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 1, p. 51, doi. 10.1038/jhg.2014.101

By:

Ozantürk, Ayşegül;
Marshall, Jan D;
Collin, Gayle B;
Düzenli, Selma;
Marshall, Robert P;
Candan, Şükrü;
Tos, Tülay;
Esen, İhsan;
Taşkesen, Mustafa;
Çayır, Atilla;
Öztürk, Şükrü;
Üstün, İhsan;
Ataman, Esra;
Karaca, Emin;
Özdemir, Taha Reşid;
Erol, İlknur;
Eroğlu, Fehime Kara;
Torun, Deniz;
Parıltay, Erhan;
Yılmaz-Güleç, Elif

Publication type:

Article

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 1, p. 1, doi. 10.1038/jhg.2014.85

By:

Ozantürk, Ayşegül;
Marshall, Jan D;
Collin, Gayle B;
Düzenli, Selma;
Marshall, Robert P;
Candan, Şükrü;
Tos, Tülay;
Esen, İhsan;
Taşkesen, Mustafa;
Çayır, Atilla;
Öztürk, Şükrü;
Üstün, İhsan;
Ataman, Esra;
Karaca, Emin;
Özdemir, Taha Reşid;
Erol, İlknur;
Eroğlu, Fehime Kara;
Torun, Deniz;
Parıltay, Erhan;
Yılmaz-Güleç, Elif

Publication type:

Article

POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum.

Published in:

Clinical Genetics, 2023, v. 104, n. 2, p. 186, doi. 10.1111/cge.14353

By:

Rossi, Alessandra;
Blok, Lot Snijders;
Neuser, Sonja;
Klöckner, Chiara;
Platzer, Konrad;
Faivre, Laurence Olivier;
Weigand, Heike;
Dentici, Maria L.;
Tartaglia, Marco;
Niceta, Marcello;
Alfieri, Paolo;
Srivastava, Siddharth;
Coulter, David;
Smith, Lacey;
Vinorum, Kristin;
Cappuccio, Gerarda;
Brunetti‐Pierri, Nicola;
Torun, Deniz;
Arslan, Mutluay;
Lauridsen, Mathilde F.

Publication type:

Article

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.

Published in:

2016

By:

Bayram, Yavuz;
Karaca, Ender;
Akdemir, Zeynep Coban;
Yilmaz, Elif Ozdamar;
Tayfun, Culsen Akay;
Aydin, Hatip;
Torun, Deniz;
Bozdogan, Sevcan Tug;
Cezdirici, Alper;
Isikay, Sedat;
Atik, Mehmed M.;
Cambin, Tomasz;
Harel, Tamar;
El-Hattab, Ayman W.;
Wu-Lin Charng;
Pehlivan, Davut;
Jhangiani, Shalini N.;
Muzny, Donna M.;
Karaman, Ali;
Celik, Tamer

Publication type:

journal article

Gene expression changes in bioceramic paste-treated human dental pulp cells.

Published in:

2016

By:

Torun, Deniz;
Torun, Zeynep Ö.;
Demirkaya, Kadriye;
Sarper, Meral;
Elçi, Mualla P.;
Avcu, Ferit

Publication type:

journal article

Association of retinal vein occlusion, homocysteine, and the thrombophilic mutations in a Turkish population: A case-control study.

Published in:

Ophthalmic Genetics, 2017, v. 38, n. 4, p. 352, doi. 10.1080/13816810.2016.1235716

By:

Koylu, Mehmet Talay;
Kucukevcilioglu, Murat;
Erdurman, Fazil Cuneyt;
Durukan, Ali Hakan;
Sobacı, Gungor;
Torun, Deniz;
Tunca, Yusuf;
Ayyildiz, Onder

Publication type:

Article

A New Syndrome Associated with Absence of Lower Lid Lacrimal Punctum, Ptosis, Elevation Deficiency of Both Eyes and Mild Facial Dysmorphism.

Published in:

Ophthalmic Genetics, 2009, v. 30, n. 3, p. 146, doi. 10.1080/13816810902988772

By:

Guran, Sefik;
Torun, Deniz;
Mutlu, Fatih Mehmet;
Uysal, Yusuf;
Ugurel, Mehmet Sahin;
Bahce, Muhterem

Publication type:

Article

The relationship between mitochondrial complex I-III gene mRNA levels and clinical features of the patients with schizophrenia.

Published in:

2013

By:

Akarsu, Suleyman;
Torun, Deniz;
Bolu, Abdullah;
Kozan, Salih;
Akar, Hatice;
Uzun, Ozcan

Publication type:

Abstract

Mitochondrial complex I-III mRNA levels in schizophrenia: relationship between gene expressions and psychotic symptomatology.

Published in:

2013

By:

Akarsu, Suleyman;
Uzun, Ozcan;
Torun, Deniz;
Bolu, Abdullah;
Erdem, Murat;
Kozan, Salih;
Akar, Hatice

Publication type:

Abstract

Prenatal diagnosis of Cri-du chat syndrome following high maternal serum human chorionic gonodotrophin and choroid plexus cysts.

Published in:

Prenatal Diagnosis, 2009, v. 29, n. 5, p. 536, doi. 10.1002/pd.2224

By:

Torun, Deniz;
Bahce, Muhterem;
Alanbay, Ibrahim;
Guran, Sefik;
Baser, Iskender

Publication type:

Article

FMF hastalarındaki MEFV gen mutasyon sıklığı ve mutasyonların dağılımı: Tek bir merkezden geniş bir hasta grubunun analizi.

Published in:

Gulhane Medical Journal, 2017, v. 59, n. 1, p. 24, doi. 10.5455/gulhane.261519

By:

Torun, Deniz;
Tekgöz, Emre;
Kavuş, Haluk;
Öztuna, Ali;
Akar, Hatice;
Çınar, Muhammet;
Yılmaz, Sedat;
Güran, Şefik;
Tunca, Yusuf

Publication type:

Article

Boy kısalığı nedeni ile takip edilen kız çocuklarında karyotip analizi sonuçlarımız.

Published in:

Gulhane Medical Journal, 2017, v. 59, n. 1, p. 21, doi. 10.5455/gulhane.260924

By:

Torun, Deniz;
Kavuş, Haluk;
Öztuna, Ali;
Akar, Hatice;
Akın, Onur;
Tunca, Yusuf

Publication type:

Article

Miyelodisplastik sendromlu olguda i(17q): nadir görülen önemli bir kromozomal anomali.

Published in:

Gulhane Medical Journal, 2011, v. 53, n. 4, p. 301

By:

Bahçe, Muhterem;
Beyan, Cengiz;
Erdem, Gökhan;
Ateş, Ömer;
Kozan, Salih;
Torun, Deniz;
Güran, Şefik

Publication type:

Article

Miyelodisplastik sendrom olgularında sitogenetik analiz sonuçlarının hasta prognozuna etkisi.

Published in:

Gulhane Medical Journal, 2011, v. 53, n. 2, p. 104

By:

Güran, Şefik;
Beyan, Cengiz;
Tunca, Yusuf;
Kozan, Salih;
Torun, Deniz;
Ifran, Ahmet;
Kaptan, Kürşat;
Ural, Ali Uğur;
Nevruz, Oral;
Avcu, Ferit;
Çetin, Türker;
Gü, Davut;
Bahçe, Muhterem

Publication type:

Article

Akut miyeloblastik lösemili olguda trizomi 8, trizomi 9 ve trizomi 21 sitogenetik bulgularının birlikteliği.

Published in:

Gulhane Medical Journal, 2010, v. 52, n. 4, p. 287

By:

Kozan, Salih;
Öztürk, Erman;
Torun, Deniz;
BahÇe, Muhterem;
Kaya, Halide;
Beyan, Cengiz;
Güran, Şefik

Publication type:

Article

Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome.

Published in:

Turkish Journal of Pediatrics, 2022, v. 64, n. 5, p. 956, doi. 10.24953/turkjped.2020.3992

By:

Torun, Deniz;
Arslan, Mutluay;
Çavdarlı, Büşranur;
Akar, Hatice;
Cram, David Stephen

Publication type:

Article

A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis.

Published in:

Turkish Journal of Pediatrics, 2011, v. 53, n. 3, p. 346

By:

Karaer, Kadri;
Rosti, Rasim Özgür;
Torun, Deniz;
Sanal, Hatice Tuba;
Bahçe, Muhterem;
Güran, Şefik

Publication type:

Article

Cerebrotendinous xanthomatosis with a novel mutation in CYP27A1 gene in a Turkish patient.

Published in:

Annals of Medical of Research, 2020, v. 27, n. 8, p. 2200, doi. 10.5455/annalsmedres.2020.03.254

By:

Dikbas, Oguz;
Torun, Deniz;
Ilgezdi, Irem;
Eyuboglu, Ilker;
Unlu, Burcu

Publication type:

Article

Coexistence of severe developmental delay, epilepsy, and hemangioma in Snijders Blok‐Fisher syndrome suggests the presence of a POU3F3‐related SNIBFIS endophenotype: A case report.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1554, doi. 10.1002/ajmg.a.62135

By:

Torun, Deniz;
Arslan, Mutluay;
Yüksel, Zafer

Publication type:

Article

Gorlin-chaudhry-moss syndrome revisited: Expanding the phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1737, doi. 10.1002/ajmg.a.35954

By:

Rosti, Rasim O.;
Karaer, Kadri;
Karaman, Birsen;
Torun, Deniz;
Guran, Sefik;
Bahce, Muhterem

Publication type:

Article

Rheumatic and Autoimmune Diseases May Have a Role in Disease Progression of Myelodysplastic Syndrome.

Published in:

Turkiye Klinikleri Journal of Medical Sciences, 2012, v. 32, n. 4, p. 910, doi. 10.5336/medsci.2011-24201

By:

Kozan, Salih;
Torun, Deniz;
Tunca, Yusuf;
Beyan, Cengiz;
İfran, Ahmet;
Kaptan, M. Kürşat;
Ural, Ali Uğur;
Nevruz, Oral;
Avcu, Ferit;
Çetın, A. Türker;
Kürekçı, Ahmet Emin;
Gül, Davut;
Terzı, Yunus Kasım;
Çoban, Zehra Dilşad;
Bahçe, Muhterem;
Güran, Şefik

Publication type:

Article

ÜÇ ADET HEMİFASİYAL MİKROSOMİA HASTASI VE LİTERATÜRÜN GÖZDEN GEÇİRİLMESİ.

Published in:

Anatolian Journal of Clinical Investigation, 2009, v. 3, n. 4, p. 252

By:

Uludag, Ahmet;
Tepeli, Emre;
Koç, Altug;
Kozan, Salih;
Torun, Deniz;
Güran, Šefik;
Bahçe, Muhterem

Publication type:

Article

Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 10, p. 1349, doi. 10.1515/jpem-2020-0117

By:

Olgac, Asburce;
Kasapkara, Cigdem Seher;
Kilic, Mustafa;
Keskin, Ebru Yılmaz;
Sandal, Gonca;
Cram, David Stephen;
Haberle, Johannes;
Torun, Deniz

Publication type:

Article

Is Turkey a prothrombin gene mutation region similar to the Mediterranean countries?

Published in:

2016

By:

Buğan, Barış;
Yıldırım, Erkan;
Torun, Deniz;
Kozan, Salih;
Çelik, Murat;
Çelik, Turgay

Publication type:

Letter to the Editor

Rare chromosomal complement of trisomy 21 in a boy conceived only by IVF.

Published in:

2010

By:

Guran, Sefik;
Rosti, Rasim Ozgur;
Sarici, Serdar Ümit;
Torun, Deniz;
Kozan, Salih;
Bahçe, Muhterem

Publication type:

Letter

Venöz tromboembolili hastalarda anjiyotensin dönüştürücü enzim I/D ve plazminojen aktivatör inhibitör-1 4G/5G gen polimorfizmlerinin araştırılması.

Published in:

Tuberculosis & Thorax / Tuberkoloz ve Toraks, 2013, v. 61, n. 2, p. 88, doi. 10.5578/tt.5185

By:

KAYA, Halide;
KARKUCAK, Mutlu;
SALİFOĞLU, Hatice;
TORUN, Deniz;
KOZAN, Salih;
TUNCA, Yusuf

Publication type:

Article

Methylation of SOCS3 in Myeloproliferative Neoplasms and Secondary Erythrocytosis/Thrombocythemia.

Published in:

Turkish Journal of Hematology, 2013, v. 30, n. 1, p. 13, doi. 10.4274/tjh.98474

By:

Torun, Deniz;
Nevruz, Oral;
Akyol, Mesut;
Kozan, Salih;
Bahçe, Muhterem;
Güran, Şefik;
Beyan, Cengiz

Publication type:

Article