Publications by authors named "Elif Yilmaz Gulec"

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Long-term follow-up of growth and puberty in 3-M syndrome: effects of growth hormone therapy and response variability.
Ayse Pinar Ozturk, Ayca Dilruba Aslanger, Umut Altunoglu, Cagri Gulec, Esin Karakilic Ozturan, Elif Yilmaz Gulec

Endocrine· December 2025

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Revisiting Wiedemann-Steiner Syndrome: Novel Variants and Broadened Clinical Spectrum.
Zehra Manav Yiğit, Aydan Mengübaş Erbaş, Ayberk Türkyılmaz, İsmihan Merve Tekin, Elif Yılmaz Güleç

Balkan Med J· November 2025

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Pi*M Palermo Mutation in Bronchiectasis due to Alpha-1 Antitrypsin Deficiency: A Rare Genetic Cause.
Beyza Yildirimli, Coskun Dogan, Elif Yilmaz Gulec, Gonul Seven Yalcin

Medeni Med J· September 2025

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Two Siblings with Missense Homozygous ABCA3 R43H Mutation Showing Good Response to Glucocorticoid.
Yasemin Mocan Çağlar, Özge Ülgen, Sinem Can Oksay, Deniz Mavi Tortop, Gülay Bilgin

Indian J Pediatr· August 2025

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C-terminal c.914A>G variant in a patient with IgA nephropathy and thrombotic microangiopathy: expanding the clinical and genetic spectrum of IgA nephropathy with microangiopathic lesions.
Ahmet Burak Dirim, Elif Yilmaz Gulec, Ozge Hurdogan, Yasemin Ozluk, Safak Mirioglu

Clin Kidney J· July 2025

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Saturation genome editing of reveals distinct dominant and recessive neurodevelopmental disorders.
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, Elsa Leitão, Ruebena Dawes, Elif Yilmaz Gulec

medRxiv· April 2025

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A New Variant of the Gene: The First Case of Microcephaly, Epilepsy, and Diabetes Syndrome 1 from Turkey.
Elif Söbü, Gül Demet Kaya Özçora, Elif Yılmaz Güleç, Bahtiyar Şahinoğlu, Feride Tahmiscioğlu Bucak

J Clin Res Pediatr Endocrinol· September 2024

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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Elif Yilmaz Gulec

Brain· August 2023

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An intermediate phenotype in IDH related enchondromatosis spectrum.
Elif Yilmaz-Gulec, Pauline Marzin, Céline Huber-Lequesne, Valérie Cormier-Daire

Eur J Med Genet· March 2023

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EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Christin S Adamo, Aude Beyens, Alvise Schiavinato, Douglas R Keene, Sara F Tufa, Elif Yilmaz Gulec

Am J Hum Genet· December 2022

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Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.
Ruizhi Duan, Hadia Hijazi, Elif Yilmaz Gulec, Hatice Koçak Eker, Silvia R Costa

HGG Adv· October 2022

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Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.
Elif Yilmaz Gulec, Gozde Tutku Turgut, Alper Gezdirici, Volkan Karaman, Fatma Nihal Ozturk

Clin Genet· September 2022

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The Effect of Maternal Age on the Incidence of Major Malformations and Operations in Children with Down Syndrome.
Elif Yilmaz Gulec, Alper Gezdirici

Medeni Med J· September 2022

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Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Ariadne R Lima, Barbara M Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Elif Yilmaz-Gulec

Hum Mutat· July 2022

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Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers.
Akif Ayaz, Alper Gezdirici, Elif Yilmaz Gulec, Ozge Ozalp, Abdullah Huseyin Koseoglu

Medeni Med J· June 2022

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The evaluation of potential global impact of the N501Y mutation in SARS-COV-2 positive patients.
Selen Zeliha Mart Komurcu, Yakup Artik, Nevra Pelin Cesur, Arzu Tanriverdi, Derya Cakir Erdogan, Elif Yilmaz Gulec

J Med Virol· March 2022

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How to Manage Low Estriol Levels in Pregnancies, One Center Experience.
Elif Yilmaz Gulec, Alper Gezdirici, Akif Ayaz, Fatma Nihal Ozturk, Ibrahim Polat

Medeni Med J· March 2022

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Common Polymorphisms of Growth Hormone: Growth Hormone Receptor Axis in Turkish Children with Short Stature.
Elif Yılmaz Güleç, Oya Ercan, Servet Erdal Adal, Ayşe Nur Buyru, Metin Yıldız

Turk Arch Pediatr· March 2022

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Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features.
Elif Yilmaz Gulec, Bassam R Ali, Anne John, Beyhan Tuysuz

Mol Syndromol· February 2022

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Effect of different storage conditions on COVID-19 RT-PCR results.
Elif Yilmaz Gulec, Nevra P Cesur, Gonca Yesilyurt Fazlioğlu, Cemal Kazezoğlu

J Med Virol· December 2021

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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Lore Pottie, Christin S Adamo, Aude Beyens, Steffen Lütke, Piyanoot Tapaneeyaphan, Elif Yilmaz Gulec

Am J Hum Genet· December 2021

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SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Marialetizia Motta, Giulia Fasano, Sina Gredy, Julia Brinkmann, Adeline Alice Bonnard, Elif Yilmaz Gulec

Am J Hum Genet· November 2021

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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Tadahiro Mitani, Sedat Isikay, Alper Gezdirici, Elif Yilmaz Gulec, Jaya Punetha

Am J Hum Genet· October 2021

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Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
Stephanie Efthymiou, Isabella Herman, Fatima Rahman, Najwa Anwar, Reza Maroofian, Elif Yilmaz Gulec

Am J Med Genet A· July 2021

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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Lore Pottie, Christin S Adamo, Aude Beyens, Steffen Lütke, Piyanoot Tapaneeyaphan, Elif Yilmaz Gulec

Am J Hum Genet· June 2021

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