Works matching AU Utine, Gülen Eda

Results: 79

Childhood intrathoracic Hodgkin lymphoma with hypertrophic pulmonary osteoarthropathy: a case report and review of the literature.

Published in:

2008

By:

Utine, Eda Gülen;
Yalçın, Bilgehan;
Karnak, İbrahim;
Kale, Gülsev;
Yalçın, Ebru;
Doğru, Deniz;
Kiper, Nural;
Akyüz, Canan;
Büyükpamukçu, Münevver;
Utine, Eda Gülen;
Yalçin, Bilgehan;
Karnak, Ibrahim;
Kale, Gülsev;
Yalçin, Ebru;
Doğru, Deniz;
Akyüz, Canan;
Büyükpamukçu, Münevver

Publication type:

journal article

Recognizing multiple epiphyseal dysplasia in children presenting with joint pain: a commonly overlooked skeletal dysplasia.

Published in:

European Journal of Pediatrics, 2025, v. 184, n. 6, p. 1, doi. 10.1007/s00431-025-06176-8

By:

Daşar, Tuğba;
İmren, Gözde;
Yıldız, Adalet Elçin;
Demir, Gizem Ürel;
Utine, Gülen Eda;
Yılmaz, Güney;
Kiper, Pelin Özlem Şimşek

Publication type:

Article

Enhancing Genetic Insight: Chromosomal Microarray Enhances Understanding of Genetics in Rubinstein-Taybi Syndrome.

Published in:

Molecular Syndromology, 2025, v. 16, n. 3, p. 283, doi. 10.1159/000541941

By:

Erkan, Dilsu Dicle;
Soğukpınar, Merve;
Ürel Demir, Gizem;
Utine, Gülen Eda;
Şimşek-Kiper, Pelin Özlem

Publication type:

Article

Desbuquois dysplasia and cardiovascular complications: a retrospective cohort study.

Published in:

European Journal of Pediatrics, 2025, v. 184, n. 7, p. 1, doi. 10.1007/s00431-025-06231-4

By:

Öztürk, Musa;
Türk, Merve Tanrısever;
Demir, Gizem Ürel;
Ütine, Gülen Eda;
Ertuğrul, İlker;
Aypar, Ebru;
Karagöz, Tevfik;
Alehan, Dursun;
Kiper, Pelin Özlem Şimşek;
Aykan, Hayrettin Hakan

Publication type:

Article

Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort.

Published in:

Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-025-01884-0

By:

Süleyman, Merve;
Cagdas, Deniz;
Kiper, Pelin Özlem Şimşek;
Ütine, Gülen Eda;
Çavdar, Merve Kaşıkcı;
Tezcan, Feyzi İlhan

Publication type:

Article

Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations.

Published in:

Human Mutation, 2013, v. 34, n. 10, p. 1381, doi. 10.1002/humu.22377

By:

Iida, Aritoshi;
Simsek‐Kiper, Pelin Özlem;
Mizumoto, Shuji;
Hoshino, Touma;
Elcioglu, Nursel;
Horemuzova, Eva;
Geiberger, Stefan;
Yesil, Gozde;
Kayserili, Hülya;
Utine, Gülen Eda;
Boduroglu, Koray;
Watanabe, Shigehiko;
Ohashi, Hirofumi;
Alanay, Yasemin;
Sugahara, Kazuyuki;
Nishimura, Gen;
Ikegawa, Shiro

Publication type:

Article

Correction to: Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities.

Published in:

2024

By:

Soğukpınar, Merve;
Demir, Gizem Ürel;
Utine, Gülen Eda;
Gönç, Elmas Nazlı;
Özön, Zeynep Alev;
Şimşek-Kiper, Pelin Özlem

Publication type:

Correction Notice

Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities.

Published in:

European Journal of Pediatrics, 2024, v. 183, n. 9, p. 3819, doi. 10.1007/s00431-024-05643-y

By:

Soğukpınar, Merve;
Demir, Gizem Ürel;
Utine, Gülen Eda;
Gönç, Elmas Nazlı;
Özön, Zeynep Alev;
Şimşek-Kiper, Pelin Özlem

Publication type:

Article

A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings.

Published in:

Turkish Journal of Pediatrics, 2013, v. 55, n. 2, p. 207

By:

Ütine, Gülen Eda;
Kılıç, Esra;
Boduroğlu, Koray

Publication type:

Article

Congenital partial arhinia: a rare malformation of the nose coexisting with holoprosencephaly.

Published in:

Turkish Journal of Pediatrics, 2012, v. 54, n. 4, p. 440

By:

Takçı, Şahin;
Korkmaz, Ayşe;
Şimşek-Kiper, Pelin Özlem;
Ütine, Gülen Eda;
Boduroğlu, Koray;
Yurdakök, Murat

Publication type:

Article

A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype.

Published in:

Turkish Journal of Pediatrics, 2011, v. 53, n. 5, p. 558

By:

Şimşek-Kiper, Pelin Özlem;
Ütine, Gülen Eda;
Alanay, Yasemin;
Aktaş, Dilek;
Alikaşifoğlu, Mehmet;
Boduroğlu, Koray

Publication type:

Article

Cowden syndrome with bronchial asthma.

Published in:

Turkish Journal of Pediatrics, 2010, v. 52, n. 3, p. 330

By:

Özsürekci, Yasemin;
Yavuz, Süleyman Tolga;
Alanay, Yasemin;
Ütine, Gülen Eda;
Kalaycı, Ömer

Publication type:

Article

Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients.

Published in:

Turkish Journal of Pediatrics, 2009, v. 51, n. 3, p. 199, doi. 10.24953/turkjped.2009.2288

By:

Ütine, Gülen Eda;
Çelik, Tolga;
Alanay, Yasemin;
Alikaşifoğlu, Mehmet;
Boduroğlu, Koray;
Tunçbilek, Ergül;
Aktaş, Dilek

Publication type:

Article

Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes.

Published in:

Turkish Journal of Pediatrics, 2009, v. 51, n. 3, p. 294

By:

Şimşek, Pelin Özlem;
Ütine, Gülen Eda;
AIikaşifoğlu, Ayfer;
Alanay, Yasemin;
Boduroğlu, Koray;
Kandemir, Nurgün

Publication type:

Article

Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue.

Published in:

Turkish Journal of Pediatrics, 2008, v. 50, n. 4, p. 395

By:

Orhan, Diclehan;
Balcı, Sevim;
Deren, Özgür;
Ütine, Eda Gülen;
Başaran, Ahmet;
Kale, Gülsev

Publication type:

Article

Coexistence of Trisomy 13 and SRY (−) XX Ovotesticular Disorder of Sex Development.

Published in:

2017

By:

Ürel Demir, Gizem;
Doğan, Özlem Akgün;
Şimşek Kiper, Pelin Özlem;
Utine, Gülen Eda;
Boduroğlu, Koray;
Gucer, Safak;
Alikaşifoğlu, Mehmet

Publication type:

Case Study

Stuve-Wiedemann Sendromu: Nadir Bir Klinik Antite.

Published in:

Gazi Medical Journal, 2020, v. 31, n. 4, p. 642, doi. 10.12996/gmj.2020.147

By:

Demir, Gizem Ürel;
Şimşek Kiper, Pelin Özlem;
Utine, Gülen Eda

Publication type:

Article

Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum.

Published in:

Cleft Palate Craniofacial Journal, 2022, v. 59, n. 9, p. 1114, doi. 10.1177/10556656211038115

By:

Güleray, Naz;
Koşukcu, Can;
Oğuz, Sümeyra;
Ürel Demir, Gizem;
Taşkıran, Ekim Z.;
Kiper, Pelin Özlem Şimşek;
Utine, Gülen Eda;
Alanay, Yasemin;
Boduroğlu, Koray;
Alikaşifoğlu, Mehmet

Publication type:

Article

From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated Families.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63950

By:

Daşar, Tuğba;
Ürel Demir, Gizem;
İmren, Gözde;
Utine, Gülen Eda;
Yilmaz, Güney;
Şimşek Kiper, Pelin Özlem

Publication type:

Article

A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63629

By:

Şimşek‐Kiper, Pelin Özlem;
Karaosmanoğlu, Beren;
Taşkıran, Ekim Zihni;
Türer, Özlem Boybeyi;
Utine, Gülen Eda;
Soyer, Tutku

Publication type:

Article

A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1119, doi. 10.1002/ajmg.a.63120

By:

Akalın, Akçahan;
Şimşek‐Kiper, Pelin Özlem;
Taşkıran, Ekim Z.;
Karaosmanoğlu, Beren;
Utine, Gülen Eda;
Boduroğlu, Koray

Publication type:

Article

Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3427, doi. 10.1002/ajmg.a.62462

By:

Soyer, Tutku;
Karaosmanoglu, Beren;
Taskiran, Ekim Z.;
Kiper, Pelin Özlem Şimşek;
Karnak, İbrahim;
Boduroğlu, Koray;
Utine, Gülen Eda

Publication type:

Article

Experience of a skeletal dysplasia registry in Turkey: A five-years retrospective analysis.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2065, doi. 10.1002/ajmg.a.37122

By:

Kurt‐Sukur, Eda Didem;
Simsek‐Kiper, Pelin Ozlem;
Utine, Gülen Eda;
Boduroglu, Koray;
Alanay, Yasemin

Publication type:

Article

A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 919, doi. 10.1002/ajmg.a.36955

By:

Kilic, Esra;
Yigit, Gökhan;
Utine, Gülen Eda;
Wollnik, Bernd;
Mihci, Ercan;
Nur, Banu Güzel;
Boduroglu, Koray

Publication type:

Article

A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type.

Published in:

Journal of Pediatric Research, 2022, v. 9, n. 3, p. 297, doi. 10.4274/jpr.galenos.2022.51482

By:

Daşar, Tuğba;
Donkervoort, Sandra;
Kiper, Pelin Özlem Şimşek;
Göçmen, Rahşan;
Utine, Gülen Eda;
Boduroğlu, Koray;
Bonnemann, Carsten;
Haliloğlu, Göknur

Publication type:

Article

Gorlin Syndrome in Eleven Patients.

Published in:

Journal of Pediatric Research, 2017, v. 4, n. 2, p. 63, doi. 10.4274/jpr.09326

By:

Utine, Gülen Eda;
Alanay, Yasemin;
Aktaş, Dilek;
Boduroğlu, Koray;
Alikaşifoğlu, Mehmet;
Tunçbilek, Ergül

Publication type:

Article

Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing.

Published in:

Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2021, v. 51, n. 2, p. 107, doi. 10.4274/tjo.galenos.2020.08377

By:

Şekeroğlu, Hande Taylan;
Utine, Gülen Eda

Publication type:

Article

A Baseline Algorithm for Molecular Diagnosis of Genetic Eye Diseases: Ophthalmologist's Perspective.

Published in:

Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2016, v. 46, n. 6, p. 299, doi. 10.4274/tjo.59375

By:

Şekeroğlu, Hande Taylan;
Utine, Gülen Eda;
Alikaşifoğlu, Mehmet

Publication type:

Article

Psychometric and Psychosocial Evaluation of Adolescents with Turner Syndrome in a Multidisiplinary Approach: A Preliminary Study.

Published in:

Journal of Current Pediatrics / Guncel Pediatri, 2021, v. 19, n. 3, p. 363, doi. 10.4274/jcp.2021.04864

By:

Karakök, Burak;
Akdemir, Devrim;
Yalçın, Sıddıka;
Özusta, Hacer Seniz;
Utine, Gülen Eda;
Doğan, Özlem;
Şimşek Kiper, Pelin Özlem;
Demir, Gizem Ürel

Publication type:

Article

Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome.

Published in:

Turkish Journal of Pediatrics, 2024, v. 66, n. 2, p. 205, doi. 10.24953/turkjpediatr.2024.4511

By:

Daşar, Tuğba;
Gönen, Hasibe Nesligül;
Kösemehmetoğlu, Kemal;
Tekşam, Özlem;
Boduroğlu, Koray;
Utine, Gülen Eda;
Kiper, Pelin Özlem Şimşek

Publication type:

Article

The Turkish Journal of Pediatrics: a year of transition for the Journal.

Published in:

Turkish Journal of Pediatrics, 2023, v. 65, n. 2, p. vi

By:

Düzova, Ali;
Akgül, Sinem;
Utine, Gülen Eda;
Yıldız, Yılmaz

Publication type:

Article

The Türkiye-Syria Earthquake: a response from the editors of the Turkish Journal of Pediatrics.

Published in:

Turkish Journal of Pediatrics, 2023, v. 65, n. 1, p. 1, doi. 10.24953/turkjped.2023.E001

By:

Düzova, Ali;
Akgül, Sinem;
Utine, Gülen Eda;
Yıldız, Yılmaz

Publication type:

Article

A very rare case of a newborn with tetrasomy 9p and literature review.

Published in:

Turkish Journal of Pediatrics, 2022, v. 64, n. 1, p. 171, doi. 10.24953/turkjped.2021.685

By:

Süleyman, Merve;
Oğuz, Sümeyra;
Kaykı, Gözdem;
Çelik, Hasan Tolga;
Şimsek Kiper, Pelin Özlem;
Utine, Gülen Eda;
Yiğit, Şule

Publication type:

Article

The rare reason of pain in hip girdle: Mucolipidosis type 3 gamma.

Published in:

Turkish Journal of Pediatrics, 2021, v. 63, n. 6, p. 1091, doi. 10.24953/turkjped.2021.06.019

By:

Kolkıran, Abdulkerim;
Karaosmanoğlu, Beren;
Taşkıran, Zihni Ekim;
Kiper, Pelin Özlem Şimşek;
Utine, Gülen Eda

Publication type:

Article

Peters Plus syndrome: a recognizable clinical entity.

Published in:

Turkish Journal of Pediatrics, 2020, v. 62, n. 1, p. 136, doi. 10.24953/turkjped.2020.01.020

By:

Demir, Gizem Ürel;
Lafcı, Naz Güleray;
Doğan, Özlem Akgün;
Şimşek Kiper, Pelin Özlem;
Utine, Gülen Eda

Publication type:

Article

Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome.

Published in:

Turkish Journal of Pediatrics, 2018, v. 60, n. 5, p. 506, doi. 10.24953/turkjped.2018.05.006

By:

Bilgin, Burçak;
Kabaçam, Serkan;
Taşkıran, Ekim;
Şimşek-Kiper, Pelin Özlem;
Alanay, Yasemin;
Boduroğlu, Koray;
Utine, Gülen Eda

Publication type:

Article

Non-immune hydrops fetalis: A retrospective analysis of 151 autopsies performed at a single center.

Published in:

Turkish Journal of Pediatrics, 2018, v. 60, n. 5, p. 471, doi. 10.24953/turkjped.2018.05.001

By:

Kaykı, Gözdem;
Güçer, Şafak;
Akçören, Zuhal;
Orhan, Diclehan;
Talim, Beril;
Yurdakök, Murat;
Yiğit, Şule;
Boduroğlu, Osman Koray;
Utine, Gülen Eda;
Örgül, Gökçen;
Beksaç, M. Sinan

Publication type:

Article

Anauxetic dysplasia: A rare clinical entity.

Published in:

Turkish Journal of Pediatrics, 2018, v. 60, n. 1, p. 89, doi. 10.24953/turkjped.2018.01.014

By:

Akgün-Doğan, Özlem;
Şimsek-Kiper, Pelin Özlem;
Eda Utine, Gülen;
Boduroğlu, Koray

Publication type:

Article

Clinical and molecular evaluation of 16 patients with Rett syndrome.

Published in:

Turkish Journal of Pediatrics, 2018, v. 60, n. 1, p. 1, doi. 10.24953/turkjped.2018.01.001

By:

Zengin-Akkuş, Pınar;
Taşkıran, Ekim Z.;
Kabaçam, Serkan;
Özlem Şimşek-Kiper, Pelin;
Haliloğlu, Göknur;
Boduroğlu, Koray;
Eda Utine, Gülen

Publication type:

Article

Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndrome.

Published in:

Turkish Journal of Pediatrics, 2017, v. 59, n. 6, p. 619, doi. 10.24953/turkjped.2017.06.001

By:

Çetinkaya, Arda;
Taşkıran, Ekim;
Soyer, Tutku;
Şimşek-Kiper, Pelin Özlem;
Utine, Gülen Eda;
Tunçbilek, Gökhan;
Boduroğlu, Koray;
Alikaşifoğlu, Mehmet

Publication type:

Article

Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome.

Published in:

Turkish Journal of Pediatrics, 2017, v. 59, n. 1, p. 80, doi. 10.24953/turkjped.2017.01.014

By:

Hızarcıoğlu-Gülşen, Hayriye;
Kılıç, Esra;
Dominguez-Garrido, Elena;
Aydemir, Yusuf;
Utine, Gülen Eda;
Saltık-Temizel, İnci Nur

Publication type:

Article

Jervell and Lange-Nielsen syndrome with homozygous missense mutation of the KCNQ1 gene.

Published in:

Turkish Journal of Pediatrics, 2014, v. 56, n. 5, p. 542

By:

Kılıç, Esra;
Ertuğrul, İlker;
Özer, Sema;
Alikaşifoğlu, Mehmet;
Aktaş, Dilek;
Boduroğlu, Koray;
Ütine, Gülen Eda

Publication type:

Article

Celiac disease in Williams-Beuren syndrome.

Published in:

Turkish Journal of Pediatrics, 2014, v. 56, n. 2, p. 154

By:

Şimşek-Kiper, Pelin Özlem;
Şahin, Yavuz;
Arslan, Umut;
Alanay, Yasemin;
Boduroğlu, Koray;
Orhan, Diclehan;
Özen, Hasan;
Ütine, Gülen Eda

Publication type:

Article

A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism.

Published in:

Turkish Journal of Pediatrics, 2014, v. 56, n. 1, p. 80

By:

Şimşek-Kiper, Pelin Özlem;
Bayram, Yavuz;
Ütine, Gülen Eda;
Alanay, Yasemin;
Boduroğlu, Koray

Publication type:

Article

Prader-Willi sendromu bulunan hastalarda plazma ghrelin, oksitosin ve brain-derived nörotrofik faktör düzeyleri.

Published in:

Cocuk Sagligi ve Hastaliklari Dergisi, 2022, v. 65, n. 3, p. 82

By:

Utine, Gülen Eda;
Doğan, Özlem Akgün;
Demir, Gizem Ürel;
Şimşek Kiper, Pelin Özlem;
Özön, Alev;
A., Ayfer Alikaşifoğlu;
Boduroğlu, Koray

Publication type:

Article

Akondroplazili süt çocuğunda solunum sıkıntısı.

Published in:

Cocuk Sagligi ve Hastaliklari Dergisi, 2019, v. 62, n. 3/4, p. 67

By:

Akalın, Akçahan;
Kiper, Pelin Özlem Şimşek;
Utine, Gülen Eda

Publication type:

Article

Cockayne sendromu tanısı konan bir hastada klasik ve prenatal tiplerin örtüşen kliniği.

Published in:

Cocuk Sagligi ve Hastaliklari Dergisi, 2019, v. 62, n. 3/4, p. 61

By:

Kolkıran, Abdulkerim;
Aydın, Büşra;
Atar, Süleyman;
Demir, Gizem Ürel;
Doğan, Özlem Akgün;
Taşkıran, Ekim;
Kiper, Pelin Özlem Şimşek;
Utine, Gülen Eda;
Alikaşifoğlu, Mehmet;
Boduroğlu, Koray

Publication type:

Article

Beckwith-Wiedemann sendromunun farklı moleküler tiplerinde doğum ağırlıklarının karşılaştırılması.

Published in:

Cocuk Sagligi ve Hastaliklari Dergisi, 2019, v. 62, n. 3/4, p. 56

By:

Daşar, Tuğba Nur;
Kiper, Pelin Özlem Şimşek;
Utine, Gülen Eda

Publication type:

Article

Down sendromunda ortalama anne yaşı ve doğuştan kalp hastalıklarının sıklığı.

Published in:

Cocuk Sagligi ve Hastaliklari Dergisi, 2019, v. 62, n. 3/4, p. 51

By:

Demir, Gizem Ürel;
Ertuğrul, İlker;
Kiper, Pelin Özlem Şimşek;
Utine, Gülen Eda;
Alehan, Dursun;
Alikaşifoğlu, Mehmet;
Boduroğlu, Koray

Publication type:

Article

Akondroplazide baba yaşı: İleri baba yaşı kaçtır?

Published in:

Cocuk Sagligi ve Hastaliklari Dergisi, 2019, v. 62, n. 1/2, p. 7

By:

Atar, Süleyman;
Demir, Gizem Ürel;
Kiper, Pelin Özlem Şimşek;
Utine, Gülen Eda;
Boduroğlu, Osman Koray

Publication type:

Article