Personal information

clinical genetics, dysmorphology, pediatrics, prenatal diagnosis, genetic counselling
Türkiye

Activities

Employment (1)

Istanbul Medeniyet University: Istanbul, TR

2021-09-14 to present | Associate Associate Professor, Head of the department (Department of Medical Genetics)
Employment
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Elif Yilmaz Gulec

Education and qualifications (1)

Istanbul University Cerrahpasa Medical School (English Section): Istanbul, TR

2000-06-14 to 2010-04-14 | Specialist (Pediatrics and Medical Genetics)
Education
Source: Self-asserted source
Elif Yilmaz Gulec

Works (50 of 68)

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A Case of Primary Ciliary Dyskinesia Syndrome with Situs Ambiguous

Respiratory Case Reports
2024 | Journal article
Contributors: Deniz Bilici; Coşkun Doğan; Elif Yilmaz Gulec; Hatice İrem Uzun
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An intermediate SMARCA2-related phenotype with non-compaction hypertrophic cardiomyopathy

European Journal of Human Genetics
2024 | Journal article
Contributors: Gulec, Elif Yilmaz; Cetin, Sena; Tosun, Oyku; Yildiz, Metin
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Koolen-de Vries syndrome: Two patients with 17q21.31 microdeletion and de novo KANSL1 variant

European Journal of Human Genetics
2024 | Journal article
Contributors: Cetin, Sena; Karatoprak, Elif Yuksel; Ozkan, Ceren Melis; Ozen, Filiz; Gulec, Elif Yilmaz
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A unique COL2A1 phenotype as a result of partial gene deletion

European Journal of Human Genetics
2023 | Journal article
Contributors: Cetin, Sena; Gunes, Mustafa; Ozen, Filiz; Gulec, Elif Yilmaz
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Familial and bilateral Poland Syndrome with hepatic hemangioma

European Journal of Human Genetics
2023 | Journal article
Contributors: Gunes, Mustafa; Cetin, Sena; Ozen, Filiz; Gulec, Elif Yilmaz
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NF1 Variants and Related Various Phenotypes

European Journal of Human Genetics
2023 | Journal article
Contributors: Gulec, Elif Yilmaz; Gezdirici, Alper
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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Brain
2023 | Journal article
Contributors: Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar et al.
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An intermediate phenotype in IDH related enchondromatosis spectrum

European Journal of Medical Genetics
2023-03 | Journal article
Contributors: Elif Yilmaz-Gulec; Pauline Marzin; Céline Huber-Lequesne; Valérie Cormier-Daire
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<i>EMILIN1</i> deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis

The American Journal of Human Genetics
2022 | Journal article
Contributors: Adamo, Christin S.; Beyens, Aude; Schiavinato, Alvise; Keene, Douglas R.; Tufa, Sara F.; Morgelin, Matthias; Brinckmann, Jurgen; Sasaki, Takako; Niehoff, Anja; Dreiner, Maren et al.
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A New Variant of the IER3IP1 Gene: The First Case of Microcephaly, Epilepsy, and Diabetes Syndrome 1 from Turkey

JCRPE Journal of Clinical Research in Pediatric Endocrinology
2022 | Journal article
Contributors: Sobu, Elif; Kaya Ozcora, Gul Demet; Yilmaz Gulec, Elif; Sahinoglu, Bahtiyar; Tahmiscioglu Bucak, Feride
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Bi-allelic loss-of-function variants in <i>LTBP1</i>cause autosomal recessive cutis laxa syndrome

European Journal of Human Genetics
2022 | Journal article
Contributors: Pottie, Lore; Adamo, Christin S.; Beyens, Aude; Luetke, Steffen; Tapaneeyaphan, Piyanoot; De Clercq, Adelbert; Salmon, Phil; De Rycke, Riet; Gezdirici, Alper; Gulec, Elif Yilmaz et al.
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Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey

Clinical Genetics
2022 | Journal article
Contributors: Gulec, Elif Yilmaz; Turgut, Gozde Tutku; Gezdirici, Alper; Karaman, Volkan; Ozturk, Fatma Nihal; Avci, Sahin; Kalayci, Tugba; Senturk, Leyli; Ayaz, Akif; Kayserili, Hulya et al.
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Common Polymorphisms of Growth Hormone: Growth Hormone Receptor Axis in Turkish Children with Short Stature

Turkish Archives of Pediatrics
2022 | Journal article
Contributors: Gulec, Elif Yilmaz; Ercan, Oya; Adal, Servet Erdal; Buyru, Ayse Nur; Yildiz, Metin; Deviren, Ayhan
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Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

Human Genetics and Genomics Advances
2022 | Journal article
Contributors: Duan, Ruizhi; Hijazi, Hadia; Gulec, Elif Yilmaz; Eker, Hatice Kocak; Costa, Silvia R.; Sahin, Yavuz; Ocak, Zeynep; Isikay, Sedat; Ozalp, Ozge; Bozdogan, Sevcan et al.
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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

Medeniyet Medical Journal
2022 | Journal article
Contributors: Ayaz, Akif; Gezdirici, Alper; Gulec, Elif Yilmaz; Ozalp, Ozge; Koseoglu, Abdullah Huseyin; Dogru, Zeynep; Yalcintepe, Sinem
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EFFECTS OF CHROMOSOMAL TRANSLOCATIONS ON SPERM COUNT IN AZOOSPERMIC AND OLIGOSPERMIC CASES

Journal of Basic and Clinical Health Sciences
2022 | Journal article
Contributors: Ayaz, Akif; Yalcintepe, Sinem; Ozalp, Ozge; Gulec, Elif Yilmaz; Gezdirici, Alper; Akcay, Ebru Perim; Koseoglu, Abdullah Huseyin; Sahin, Yavuz
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Erkek İnfertilitesi ile Başvuran Hastalarda Spermiogram, Hormonal Profil ve Genetik Analiz Sonuçlarının Karşılaştırmalı Analizi: Tek Merkez Deneyimi

Value in Health Sciences
2022 | Journal article
Contributors: Alper GEZDİRİCİ; Işık ÜNAL; Recep ERÖZ; Elif YILMAZ GÜLEÇ; İbrahim Orkunt AYAZ; Gülsemin ÇİÇEK
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How to Manage Low Estriol Levels in Pregnancies, One Center Experience

Medeniyet Medical Journal
2022 | Journal article
Contributors: Gulec, Elif Yilmaz; Gezdirici, Alper; Ayaz, Akif; Ozturk, Fatma Nihal; Polat, Ibrahim
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Phenotypic and mutational spectrum of <i>ROR2</i>-related Robinow syndrome

Human Mutation
2022 | Journal article
Contributors: Lima, Ariadne R.; Ferreira, Barbara M.; Zhang, Chaofan; Jolly, Angad; Du, Haowei; White, Janson J.; Dawood, Moez; Lins, Tulio C.; Chiabai, Marcela A.; Beusekom, Ellen et al.
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Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases

Frontiers in Genetics
2022 | Journal article
Contributors: Antony, Dinu; Gulec Yilmaz, Elif; Gezdirici, Alper; Slagter, Lennart; Bakey, Zeineb; Bornaun, Helen; Tanidir, Ibrahim Cansaran; Van Dinh, Tran; Brunner, Han G.; Walentek, Peter et al.
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Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features

Molecular Syndromology
2022 | Journal article
Contributors: Elif Yilmaz Gulec; Bassam R. Ali; Anne John; Beyhan Tuysuz
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The Effect of Maternal Age on the Incidence of Major Malformations and Operations in Children with Down Syndrome

Medeniyet Medical Journal
2022 | Journal article
Contributors: Gulec, Elif Yilmaz; Gezdirici, Alper
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The evaluation of potential global impact of the N501Y mutation in SARS‐COV‐2 positive patients

Journal of Medical Virology
2022-03 | Journal article
Contributors: Selen Zeliha Mart Komurcu; Yakup Artik; Nevra Pelin Cesur; Arzu Tanriverdi; Derya Cakir Erdogan; Sule Celik; Elif Yilmaz Gulec
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An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants

Journal of Human Genetics
2021 | Journal article
Contributors: Gezdirici, Alper; Terali, Kerem; Gulec, Elif Yilmaz; Bornaun, Helen; Dogan, Mustafa; Eroz, Recep
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Bi-allelic premature truncating variants in <i>LTBP1</i> cause cutis laxa syndrome

The American Journal of Human Genetics
2021 | Journal article
Contributors: Pottie, Lore; Adamo, Christin S.; Beyens, Aude; Luetke, Steffen; Tapaneeyaphan, Piyanoot; De Clercq, Adelbert; Salmon, Phil L.; De Rycke, Riet; Gezdirici, Alper; Gulec, Elif Yilmaz et al.
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Bi-allelic premature truncating variants in <i>LTBP1</i> cause cutis laxa syndrome (vol 108, pg 1095, 2021)

The American Journal of Human Genetics
2021 | Journal article
Contributors: Pottie, Lore; Adamo, Christin S.; Beyens, Aude; Lutke, Steffen; Tapaneeyaphan, Piyanoot; De Clercq, Adelbert; Salmon, Phil L.; De Rycke, Riet; Gezdirici, Alper; Gulec, Elif Yilmaz et al.
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Effect of different storage conditions on COVID-19 RT-PCR results

Journal of Medical Virology
2021 | Journal article
Contributors: Gulec, Elif Yilmaz; Cesur, Nevra P.; Fazlioglu, Gonca Yesilyurt; Kazezoglu, Cemal
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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

The American Journal of Human Genetics
2021 | Journal article
Contributors: Mitani, Tadahiro; Isikay, Sedat; Gezdirici, Alper; Gulec, Elif Yilmaz; Punetha, Jaya; Fatih, Jawid M.; Herman, Isabella; Akay, Gulsen; Du, Haowei; Calame, Daniel G. et al.
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SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

The American Journal of Human Genetics
2021 | Journal article
Contributors: Motta, Marialetizia; Fasano, Giulia; Gredy, Sina; Brinkmann, Julia; Bonnard, Adeline Alice; Simsek-Kiper, Pelin Ozlem; Gulec, Elif Yilmaz; Essaddam, Leila; Utine, Gulen Eda; Prandi, Ingrid Guarnetti et al.
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The clinical significance of<i>A2ML1</i>variants in Noonan syndrome has to be reconsidered

European Journal of Human Genetics
2021 | Journal article
Contributors: Brinkmann, Julia; Lissewski, Christina; Pinna, Valentina; Vial, Yoann; Pantaleoni, Francesca; Lepri, Francesca; Daniele, Paola; Burnyte, Birute; Cuturilo, Goran; Fauth, Christine et al.
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Two novel bi-allelic <i>KDELR2</i> missense variants cause osteogenesis imperfecta with neurodevelopmental features

American Journal of Medical Genetics Part A
2021 | Journal article
Contributors: Efthymiou, Stephanie; Herman, Isabella; Rahman, Fatima; Anwar, Najwa; Maroofian, Reza; Yip, Janice; Mitani, Tadahiro; Calame, Daniel G.; Hunter, Jill V.; Sutton, V. Reid et al.
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Loss-of-Function Variants in <i>EFEMP1</i> Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations

Genes
2021-03 | Journal article | Author
Contributors: Maxim Verlee; Aude Beyens; Alper Gezdirici; Elif Yilmaz Gulec; Lore Pottie; Silke De Feyter; Michiel Vanhooydonck; Piyanoot Tapaneeyaphan; Sofie Symoens; Bert Callewaert
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Elucidating the molecular mechanism underlying laterality defects

European Journal of Human Genetics
2020 | Journal article
Contributors: Antony, D.; Maver, A.; Deardorff, M. A.; Slagter, L.; Wu, K.; Bakey, Z.; Gulec, E.; Gezdirici, A.; Brunner, H.; Schmidts, M.
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Elucidating the molecular mechanism underlying laterality defects

European Journal of Human Genetics
2020 | Journal article
Contributors: Antony, D.; Maver, A.; Deardorff, M. A.; Slagter, L.; Wu, K.; Bakey, Z.; Gulec, E. Y.; Gezdirici, A.; Brunner, H.; Schmidts, M.
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Homozygous EMILIN1 loss-of-function variants impair both elastin and collagen fiber formation and cause a novel entity with arterial tortuosity and osteopenia

European Journal of Human Genetics
2020 | Journal article
Contributors: Beyens, A.; Adamo, C.; Gulec, E. Yilmaz; Gezdirici, A.; Bonaldo, P.; Bornaun, H.; Brauchle, E.; Brinckmann, J.; Devine, W. P.; Gangaram, B. et al.
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Left subclavian artery originating from left pulmonary artery in DiGeorge syndrome

Turkish Journal of Thoracic and Cardiovascular Surgery
2020 | Journal article
Contributors: Tang, Nazlican Civilibal; Alacam, Nida Celik; Bornaun, Helen; Erdem, Abdullah; Gulec, Elif Yilmaz
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The role of A2ML1 variants in Noonan syndrome remains unverified

European Journal of Human Genetics
2020 | Journal article
Contributors: Brinkmann, J.; Lissewski, C.; Pinna, V.; Vial, Y.; Pantaleoni, F.; Lepri, F.; Daniele, P.; Burnyte, B.; Cuturilo, G.; Fauth, C. et al.
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ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype

Experimental Dermatology
2019 | Journal article
Contributors: Beyens, Aude; Moreno-Artero, Ester; Bodemer, Christine; Cox, Helen; Gezdirici, Alper; Gulec, Elif Yilmaz; Kahloul, Najoua; Van Kien, Philippe Khau; Ogur, Gonul; Harroche, Annie et al.
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Crisponi / Cold-induced sweating syndrome: Seven new cases and two novel mutations

European Journal of Human Genetics
2019 | Journal article
Contributors: Gulec, E. Yilmaz; Gezdirici, A.; Ayaz, A.; Altunoglu, U.; Uyguner, Z. O.
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Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease

The Journal of Clinical Endocrinology & Metabolism
2019 | Journal article
Contributors: Jolly, Angad; Bayram, Yavuz; Turan, Serap; Aycan, Zehra; Tos, Tulay; Abali, Zehra Yavas; Hacihamdioglu, Bulent; Akdemir, Zeynep Hande Coban; Hijazi, Hadia; Bas, Serpil et al.
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Frequency of enzyme deficiencies in patients with congenital adrenal hyperplasia: A single-center experience with 145 patients

Istanbul Kanuni Sultan Süleyman Tip Dergisi (IKSST)
2019 | Journal article
Contributors: Melek Yıldız; Hasan Önal; Banu Aydın; Alper Gezdirici; Abdurrahman Akgün; Elif Yılmaz Güleç; Beyza Belde Doğan; Erdal Adal
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Genetic screening of 3 major genes (KCNQ1, KCNH2, SCN5A) in 72 Turkish patients with long QT syndrome: single cardiac center experience

European Journal of Human Genetics
2019 | Journal article
Contributors: Gezdirici, A.; Gulec, E. Y.; Ayaz, A.; Kafali, H.; Tanidir, I.; Ergul, Y.; Guzeltas, A.
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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

The American Journal of Human Genetics
2019 | Journal article
Contributors: Pehlivan, Davut; Bayram, Yavuz; Gunes, Nilay; Akdemir, Zeynep Coban; Shukla, Anju; Bierhals, Tatjana; Tabakci, Burcu; Sahin, Yavuz; Gezdirici, Alper; Fatih, Jawid M. et al.
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Genotypic and phenotypic evaluation of 40 patients with marfan syndrome: 7 novel mutations

European Journal of Human Genetics
2018 | Journal article
Contributors: Gezdirici, A.; Gulec, E.
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Homozygous loss-of-function mutations in <i>MNS1</i> cause laterality defects and likely male infertility

PLOS Genetics
2018 | Journal article
Contributors: Ta-Shma, Asaf; Hjeij, Rim; Perles, Zeev; Dougherty, Gerard W.; Abu Zahira, Ibrahim; Letteboer, Stef J. F.; Antony, Dinu; Darwish, Alaa; Mans, Dorus A.; Spittler, Sabrina et al.
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Phenotypic expansion in <i>DDX3X</i> - a common cause of intellectual disability in females

Annals of Clinical and Translational Neurology
2018 | Journal article
Contributors: Wang, Xia; Posey, Jennifer E.; Rosenfeld, Jill A.; Bacino, Carlos A.; Scaglia, Fernando; Immken, LaDonna; Harris, Jill M.; Hickey, Scott E.; Mosher, Theresa M.; Slavotinek, Anne et al.
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Recessive <i>DNAH9</i> Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

The American Journal of Human Genetics
2018 | Journal article
Contributors: Loges, Niki T.; Antony, Dinu; Maver, Ales; Deardorff, Matthew A.; Gulec, Elif Yylmaz; Gezdirici, Alper; Noethe-Menchen, Tabea; Hoeben, Inga M.; Jelten, Lena; Frank, Diana et al.
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The comparison of the mrna expressions of tgfbeta1, bfgf, igf-1, ngf and matrix metalloprotease iii genes in cervical and lumbar disc tissues

Annals of Medical Research
2018 | Journal article
Contributors: Seyho Yucetas; Atilla Yilmaz; Elif Gülec; Cem Ozic
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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

The American Journal of Human Genetics
2018 | Journal article
Contributors: White, Janson J.; Mazzeu, Juliana F.; Coban-Akdemir, Zeynep; Bayram, Yavuz; Bahrambeigi, Vahid; Hoischen, Alexander; van Bon, Bregje W. M.; Gezdirici, Alper; Gulec, Elif Yilmaz; Ramond, Francis et al.
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Late termination of pregnancy due to fetal abnormalities: An analysis of 229 cases

Istanbul Kanuni Sultan Süleyman Tip Dergisi (IKSST)
2017 | Journal article
Contributors: Ahmet Tayyar; Deniz Kanber Acar; Uğur Turhan; Zeynep Gedik Özköse; Ali Ekiz; Alper Gezdirici; Elif Yılmaz Güleç; İbrahim Polat
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Peer review (7 reviews for 4 publications/grants)

Review activity for American journal of medical genetics. (1)
Review activity for Microbiology spectrum. (1)
Review activity for Molecular genetics & genomic medicine. (4)
Review activity for Turkish archives of pediatrics. (1)