Works matching AU Şimşek Kiper, Pelin Özlem

Results: 58

Aortic root dilatation and mitral valve prolapse in three siblings with dental anomalies and short stature syndrome due to a homozygous novel LTBP3 variant.

Published in:

Cardiology in the Young, 2025, v. 35, n. 5, p. 1046, doi. 10.1017/S1047951125001520

By:

Biçer, Bilgehan Betül;
Aykan, Hayrettin Hakan;
Soğukpınar, Merve;
Şimşek Kiper, Pelin Özlem

Publication type:

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

Kniest Dysplasia without Ocular and Auditory Abnormalities in a Boy of 12 Months.

Published in:

Molecular Syndromology, 2025, v. 16, n. 3, p. 247, doi. 10.1159/000541135

By:

Kolkıran, Abdulkerim;
Daşar, Tuğba;
Kablan, Ahmet;
Şimşek-Kiper, Pelin Özlem

Publication type:

Article

Complex Congenital Cardiac Defect Associated with the Combination of 5p Deletion and 4q Duplication in a Newborn: A Case Report.

Published in:

Cytogenetic & Genome Research, 2025, v. 165, n. 1, p. 31, doi. 10.1159/000543591

By:

Kırman, Ülkü Nur;
Aliyev, Ferid;
Soğukpınar, Merve;
Şimşek Kiper, Pelin Özlem;
Aykan, Hayrettin Hakan;
Çelik, Hasan Tolga

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

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

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

Emergency room management of acute bronchiolitis: a randomized trial of nebulized epinephrine.

Published in:

Turkish Journal of Pediatrics, 2011, v. 53, n. 6, p. 651

By:

Şimşek-Kiper, Pelin Özlem;
Kiper, Naural;
Hasçelik, GülşFen;
Dolgun, Anıl;
Yalçın, Ebru;
Doğru-Ersöz, Deniz;
Özçelik, Uğur

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

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

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

Spondyloepimetaphyseal dysplasia EXTL3‐deficient type: Long‐term follow‐up and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3104, doi. 10.1002/ajmg.a.62378

By:

Akalın, Akçahan;
Taskiran, Ekim Z.;
Şimşek‐Kiper, Pelin Özlem;
Utine, Eda;
Alanay, Yasemin;
Özçelik, Uğur;
Boduroğlu, 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

Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report.

Published in:

2022

By:

Şahin, Ezgi Aysu;
Taşkıran, Ekim Zihni;
Kiper, Pelin Özlem Şimşek;
Aydın, Burça;
Utine, Eda

Publication type:

Case Study

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

Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-60

By:

Ahmet Arman;
Abdullah Bereket;
Ajda Coker;
Pelin Özlem Şimşek Kiper;
Tülay Güran;
Behzat Özkan;
Zeynep Atay;
Teoman Akçay;
Belma Haliloğlu;
Koray Boduroğlu;
Yasemin Alanay;
Serap Turan

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 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

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

A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures.

Published in:

Turkish Journal of Pediatrics, 2016, v. 58, n. 1, p. 97, doi. 10.24953/turkjped.2016.01.015

By:

Bekircan-Kurt, Can Ebru;
Şimşek-Kiper, Pelin Özlem;
Boduroğlu, Koray;
Dericioğlu, Neşe

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

Associated Congenital Abnormalities and Physical Phenotype in Patients with Diamond–Blackfan Anemia May Be Overlooked.

Published in:

Turkish Archives of Pediatrics, 2024, v. 59, n. 4, p. 364, doi. 10.5152/TurkArchPediatr.2024.23193

By:

Soltanova, Gulare;
Oral, Nihan Avcu;
Gümrük, Fatma;
Şimşek Kiper, Pelin Özlem;
Ünal, Şule

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

Akalvarya birlikteliği ile giden Patau sendromu (Trizomi 13): Bir vaka takdimi.

Published in:

Cocuk Sagligi ve Hastaliklari Dergisi, 2021, v. 64, n. 1/2, p. 13

By:

Elbayiyev, Sarkhan;
Büyükeren, Melek;
Kiper, Pelin Özlem Şimşek;
Yurdakök, Murat

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

3M sendromu.

Published in:

Cocuk Sagligi ve Hastaliklari Dergisi, 2017, v. 60, n. 2, p. 56

By:

Şimşek Kiper, Pelin Özlem;
Utine, Gülen Eda;
Boduroğlu, Koray

Publication type:

Article

Mikrodelesyon sendromları.

Published in:

Cocuk Sagligi ve Hastaliklari Dergisi, 2012, v. 55, n. 1, p. 42

By:

Ütine, Gülen Eda;
Şimşek-Kiper, Pelin Özlem;
Boduroğlu, Koray

Publication type:

Article

Noonan Sendromunda Göz Bulguları: İki Olgu ve Literatürün Gözden Geçirilmesi.

Published in:

Journal of Glaucoma-Cataract / Glokom-Katarakt, 2017, v. 12, n. 3, p. 229

By:

TAYLAN ŞEKEROĞLU, Hande;
ERKAN TURAN, Kadriye;
ŞİMŞEK KİPER, Özlem Pelin;
ÇOLAK, Dilan;
UTİNE, Gülen Eda;
BODUROĞLU, Koray

Publication type:

Article

Mozaik Trizomi 8 Sendromu Tanılı Beş Olgunun Klinik Özelliklerinin Değerlendirilmesi: Olgu Serisi.

Published in:

Turkiye Klinikleri Journal of Pediatrics / Türkiye Klinikleri Pediatri Dergisi, 2023, v. 32, n. 2, p. 91, doi. 10.5336/pediatr.2023-95733

By:

DAŞAR, Tuğba;
SOĞUKPINAR, Merve;
ŞİMŞEK KİPER, Pelin Özlem;
UTİNE, Gülen Eda;
BODUROĞLU, Koray

Publication type:

Article

EVALUATION OF A GIRL WITH 16p13.11 MICRODUPLICATION SYNDROME ACCORDING TO THE INTERNATIONAL CLASSIFICATION OF FUNCTIONING, DISABILITY AND HEALTH PERSPECTIVES.

Published in:

Sanamed, 2022, v. 17, n. 3, p. 189, doi. 10.5937/sanamed0-40595

By:

Hande, Fidan;
Mintaze, Kerem Günel;
Göknur, Haliloğlu;
Eda, Ütine Gülen;
Şimşek, Kiper Pelin Özlem

Publication type:

Article

A Case of Opsismodysplasia with a Novel INPPL1 Variant.

Published in:

Molecular Syndromology, 2025, v. 16, n. 1, p. 49, doi. 10.1159/000540189

By:

Daşar, Tuğba;
Aypar, Ebru;
Utine, Gülen Eda;
Şimşek-Kiper, Pelin Özlem

Publication type:

Article

A Novel ZBTB20 Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features.

Published in:

Molecular Syndromology, 2024, v. 15, n. 4, p. 347, doi. 10.1159/000537952

By:

Soğukpınar, Merve;
Karaosmanoğlu, Beren;
Utine, Gülen Eda;
Boduroğlu, Koray;
Şimşek-Kiper, Pelin Özlem

Publication type:

Article