Works by Demir, Gizem Ürel

Results: 24

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

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

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

Further defining the molecular spectrum and long‐term follow‐up of 17 patients with Dyggve–Melchior–Clausen and Smith–McCort dysplasia type 2.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63785

By:

Akalın, Akçahan;
Ayaz, Ercan;
Soğukpınar, Merve;
Avcı‐Durmuşalioğlu, Enise;
Ürel‐Demir, Gizem;
Yıldız, Adalet Elçin;
Atik, Tahir;
Elcioglu, Nursel H.;
Eda Utine, Gulen;
Şimşek‐Kiper, Pelin Özlem

Publication type:

Article

Ultrasonographic Screening and the Determination of Risk Factors involved in Developmental Dysplasia of the Hip.

Published in:

Journal of Pediatric Research, 2020, v. 7, n. 1, p. 52, doi. 10.4274/jpr.galenos.2019.68095

By:

Demir, Gizem Ürel;
San, Eyüp;
Karademir, Selmin;
Üner, Çiğdem;
Yıldız, Yasemin Taşcı;
Onay, Ulaş;
Bekmez, Şenol

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

Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report.

Published in:

Turkish Journal of Pediatrics, 2023, v. 65, n. 6, p. 1025, doi. 10.24953/turkjped.2022.187

By:

Büyükyılmaz, Gönül;
Adıgüzel, Keziban Toksoy;
Aksoy, Özlem Yüksel;
Kasapkara, Çiğdem Seher;
Demir, Gizem Ürel;
Demir, Engin;
Ergun, Şule Berk;
Gürbüz, Fatih;
Boyraz, Mehmet

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

Clinical and molecular spectrum along with genotype–phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey.

Published in:

European Journal of Pediatrics, 2025, v. 184, n. 1, p. 1, doi. 10.1007/s00431-024-05855-2

By:

Akalın, Akçahan;
Özalkak, Şervan;
Yıldırım, Ruken;
Karakaya, Amine Aktar;
Kolbaşı, Barış;
Durmuşalioğlu, Enise Avcı;
Kökali, Funda;
Ürel-Demir, Gizem;
Öz, Veysel;
Ünal, Edip;
Atik, Tahir;
Şimşek-Kiper, Pelin Özlem;
Elcioglu, Nursel H.

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

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

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

Clinical Evaluation of Pediatric Patients with Hereditary Angioedema.

Published in:

Tohoku Journal of Experimental Medicine, 2024, v. 262, n. 1, p. 23, doi. 10.1620/tjem.2023.J083

By:

Aydoğdu, Ayşe Kırmızıtaş;
Demir, Gizem Ürel

Publication type:

Article

Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with GSX2 and PCDH12 Variants.

Published in:

Molecular Syndromology, 2024, v. 15, n. 4, p. 275, doi. 10.1159/000537831

By:

Ürel-Demir, Gizem;
Başer, Burak;
Göçmen, Rahşan;
Şimşek-Kiper, Pelin Özlem;
Utine, Gülen Eda;
Haliloğlu, Göknur

Publication type:

Article

Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum.

Published in:

Molecular Syndromology, 2021, v. 12, n. 2, p. 106, doi. 10.1159/000513078

By:

Ürel-Demir, Gizem;
Aydın, Büşra;
Karaosmanoğlu, Beren;
Akgün-Doğan, Özlem;
Taşkıran, Ekim Zihni;
Şimşek-Kiper, Pelin Özlem;
Utine, Gülen Eda;
Boduroğlu, Koray

Publication type:

Article

Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20).

Published in:

Molecular Syndromology, 2020, v. 11, n. 1, p. 38, doi. 10.1159/000505141

By:

Ürel-Demir, Gizem;
akgün-Doğan, Özlem;
Oğuz, Sümeyra;
Güleray-Lafcı, Naz;
Şimşek-Kiper, Pelin Özlem;
Eda Utine, Gülen;
alikaşifoğlu, Mehmet;
Boduroğlu, Koray

Publication type:

Article

EXTL3-Associated Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities: A Lethal Phenotype.

Published in:

Pediatric Allergy, Immunology & Pulmonology, 2023, v. 36, n. 4, p. 147, doi. 10.1089/ped.2023.0079

By:

Demir, Engin;
Adım, Filiz;
Döğen, Mehmet Ercüment;
Aydoğdu, Ayşe;
Yeşil, Edanur;
Mermer, Serdar;
Başer, Burak;
Ürel Demir, Gizem

Publication type:

Article