Aslı ECE SOLMAZ

Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Anabilim Dalı

Araştırma alanları: Sağlık Bilimleri, Tıp, Dahili Tıp Bilimleri, Tıbbi Genetik, İç Hastalıkları, Temel Bilimler, Yaşam Bilimleri, Moleküler Biyoloji ve Genetik, Cerrahi Tıp Bilimleri, Çocuk Sağlığı ve Hastalıkları

Yayınlar

• The pivotal role of etiology in managing Non-CAH primary adrenal insufficiency in pediatric and adolescent populations: A Single-Center study (2026)
• Breast cancer subtypes in CHEK2, ATM, and other non-BRCA germline carriers in Turkey (2026)
• Predicting Immune-Related Adverse Events in Patients with Melanoma: The Role of Interleukin-7 rs16906115 Polymorphism and Lymphocyte Dynamics (2025)
• Predicting Immune-Related Adverse Events in Patients with Melanoma: The Role of Interleukin-7 rs16906115 Polymorphism and Lymphocyte Dynamics (2025)
• The incidence and clinical outcomes following prophylactic risk-reducing salpingo-oophorectomy in BRCA mutation carriers: a single-center retrospective study (2025)
• Transition from assigned sex at birth to individual gender identity in cases of differences of sex development (2025)
• Detection of copy number variations by chromosomal microarray analysis in disorders of sex development of unexplained molecular etiology and association with clinical findings (2025)
• Predicting immune-related adverse events in patients with melanoma: the role of interleukin-7 rs16906115 polymorphism and lymphocyte dynamics (2025)
• A Rare Case of Lhermitte Duclos Disease Associated with Somatic PTEN and Germline SUFU Variants (2025)
• Identifying a rare mechanism: double parallel trisomy rescue leading to combined segmental and whole-chromosome mosaicism in an IVF-derived embryo (2025)
• Investigating the effects of PTEN mutations on cGAS-STING pathway in glioblastoma tumours (2024)
• SUFU: A potential novel gene responsible for Lhermitte Duclos disease (2024)
• A rare cause of primary amenorrhea: LHCGR gene mutations (2022)
• Prevalence of lipoprotein lipase mutation in patients with severe hypertriglyceridemia and the characteristic features of hypertriglyceridemic pancreatitis (2022)
• 20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey (2021)
• MOLEKÜLER TANIDA ZORLUK YAŞANAN CİNSİYET GELİŞİM BOZUKLUĞU OLGUSU: NR5A1 GENİNDE YENİ VARYANT (2021)
• Gorlin Sendromlu olgularda saptanan üç yeni PTCH1 varyantı (2021)
• Clinical and Molecular Spectrum of Tuberous Sclerosis Complex Patients: Identification of Three Novel Mutations (2021)
• A case of gender developmental disorder with difficulty in molecular diagnosis: new variant in NR5A1 gene (2021)
• Clinical Contribution of Next-Generation Sequencing Multigene Panel Testing for BRCA Negative High-Risk Patients With Breast Cancer (2021)
• A novel bi-allelic variant in the SDHB gene causes a severe mitochondrial complex II deficiency: a case report (2021)
• Mutation spectrum of the NF1 gene and genotype–phenotype correlations in Turkish patients: Seventeen novel pathogenic variants (2021)
• Akut miyeloid lösemi (AML) hastalarında sitogenetik, moleküler sitogenetik, moleküler genetik ve klinik sonuçların retrospektif analizi; tek merkezden 4 yıllık veri analizi (2020)
• Çocukluk çağı akut lenfoblastik lösemide FISH yöntemi ile kromozomal yeniden düzenlenmelerin tespiti (2020)
• COL7A1 GENİNDE HOMOZİGOT SİNONİM MUTASYON: EPİDERMOLİZİS BÜLLOZA KLİNİĞİ (2020)
• Multipl Skleroz ve Epigenetik (2020)
• BRCA1-BRCA2 mutation analysis results in 910 individuals: Mutation distribution and 8 novel mutations (2020)
• Clinical and molecular aspects of PTEN mutations in 10 pediatric patients (2020)
• A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia (2020)
• Copy number variation analysis from targeted next generation sequencing panel data (2019)
• Ciddi Boy Kısalığı İle Başvuran Büyüme Hormon Duyarsızlığı Olgusu: GHR Novel Mutasyonu (2019)
• 3-Beta-Hidroksisteroid Dehidrogenaz (HSD3B2) Enzim Eksikliği Olan 2 Farkli Olgu Yeni Bir Mutasyon (2019)
• Primer hipertrigliseridemili vakalarımızda LPL mutasyonu ön analiz sonuçlarımız (2019)
• Investigation of FBN1 gene mutations in clinically diagnosed Marfan's syndrome patients (2019)
• Nörolojik bulguların eşlik ettiği cinsiyet gelişim bozukluğu olgusu: tüm ekzom dizi analizi ile saptanan RERE mutasyonu (2019)
• Akromegali Hastalarımızda AIP Mutasyonu Sonuçlarımız (2019)
• MARFAN SENDROMU KLİNİK TANILI 10 PEDİATRİK OLGUDA FBN1GEN MUTASYONLARININ ARAŞTIRILMASI (2018)
• Diminished ovarian reserve in a newly diagnosed breast cancer patient with heterozygote Ataxia Telengiectasia mutated (ATM) gene mutation (2018)
• DIMINISHED OVARIAN RESERVE IN A NEWLY DIAGNOSED BREAST CANCER PATIENT WITH HETEROZYGOTE ATAXIA TELENGIECTTASIA MUTATED (ATM) GENE MUTATION (2018)
• AKUT LÖSEMİ OLGULARINDA C-KİT GEN MUTASYON SPEKTRUMU (2018)
• TİAMİN YANITLI MEGALOBLASTİK ANEMİ SENDROMULU BİR OLGUSUNUMU (2018)
• PRENATAL TANIDA HBB GENİNDE C.17_18DELCT VE C.-78AG MUTASYONLARININ BİRLİKTELİĞİ (2018)
• ALFA GLOBİN GENİNDE NADİR BİR VARYANT: HB AGRİNİO (2018)
• HB F YÜKSEKLİĞİNİN NADİR BİR NEDENİ OLAN HOMOZİGOTDELTA BETA TALASEMİLİ BİR OLGU (2018)
• PgmNr 714/W: Evaluation of a 94-gene inherited cancer panel across 248 families referred for testing to a reference molecular diagnostic laboratory.PgmNr 714 (2018)
• The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients (2018)
• NÖROFİBROMATOSİS-NOONAN SENDROMU TANILI BİR HASTADA DIŞ GENİTAL ORGANLARDA VİRİLİZASYON (2017)
• The mutation spectrum of DHCR7 gene and two novel mutations (2017)
• H. Onay, A.E. Solmaz, L. Yeniay, E. Gökmen, N. Özdemir, S. Alanyalı, A. Oktay, Z. Özsaran, M. Kapkaç, F. Özkınay. Meme kanserli 737 olguda brca1-brca2 mutasyon analizi sonuçlarımız: mutasyon dağılımımız ve 12 yeni mutasyon. Ulusal Kanser Kongresi 19-23 Nisan 2017. (2017)
• Smith Lemli Opitz Sendromu’ndan Sorumlu DHCR7 Geni Mutasyon Spektrumu ve İki Yeni Mutasyon (2017)
• GENEMETRIC: BULUT TABANLI GENETİK BİYOMETRİK TANIMAMA SİSTEMİ (2017)
• Tetrasomy Xq in a Primary Infertile Case (2017)
• Hastalıklara Yatkınlıklar (2017)
• PRENATAL DIAGNOSIS OF A FETUS CARRYING INV (12): CASE REPORT (2017)
• Sendromik veya İzole Kraniyosinostoz Öntanıları Olan Olgularda Saptanan FGFR2 Gen Mutasyonları (2017)
• POPÜLASYON GENETİĞİ (2017)
• Nörofibromatosis-Noonan Sendromu Tanılı Bir Hastada Dış Genital Organlarda Virilizasyon (2017)
• Tetrasomy Xq in a Primary Infertile Case (2017)
• GENEMETRIC: Bulut Tabanlı Genetik Biyometrik Tanımlama Sistemi (2017)
• S. Alanyalı, B. Şen, Ö. Duran, A. Solmaz, Z. Özsaran. Meme Kanserli Hastaların Brca1–2 GenetiK testleri HaKKındaKi FarKındalıKlarının ve BaKış açılarının değerlendirilmesi. Ulusal Kanser Kongresi 19-23 Nisan 2017.(DS:0.9 puan) (2017)
• PREIMPLANTATION GENETIC DIAGNOSIS FOR T(25)(q37.1q35.1): CASE REPORT (2017)
• EXOME RESULTS IN UNDIAGNOSED 46, XY DISORDER OF SEX DEVELOPMENT CASES WITH TARGETED NEXT-GENERATION SEQUENCING. (2017)
• Von Hippel-Lindau Disease: The Importance of Retinal Hemangioblastomas in Diagnosis (2017)
• POMPE HASTALIĞINDA ETİYOLOJİDEN SORUMLU GAA GENİNDE BELİRLENEN MUTASYON SPEKTRUMU VE SEKİZ YENİ MUTASYON (2016)
• A further patient of pure 15q deletion: Clinical and molecular cytogenetic findings (2016)
• Good Clinical Practice Increases Efficiency And Reduces Cost Of Targeted NGS Use Of Targeted NGSFor Genetic Diagnosis Of 40 Families (2016)
• Marker kromozom tesbit edilen olgunun konvansiyonel sitogenetik ve mikroarray ile incelenmesi (2016)
• PRENATAL DİAGNOSİS PALLISTER KILLIAN SYNDROME MOSAİC TETROSMY 12P (2016)
• Sekans Analizi Yorumlanması (2016)
• A FURTHER PATIENT OF PURE 15Q DELETION: CLINICAL AND MOLECULAR CYTOGENETIC FINDINGS (2016)
• Prematür Over Yetmezliği Olgusunda Mikroarray ile Saptanan kompleks X Y Translokasyonu (2016)
• Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment (2016)
• Klinik Ön Tanı Hedeflenmiş Yeni Nesil Dizi Analizi Tekniğinin Başarısını Artırıp Maliyeti Düşürmektedir 40 Ailede Tanı Deneyimi (2016)
• Marker Kromozomu Tespit Edilen Olgunun Konvansiyonel Sitogenetik ve Mikroarray ile incelenmesi (2016)
• NF type 1 a single center s experience in the Aegean region of Turkey (2016)
• MLPA YÖNTEMİ İLE ANTİ LEPORE HB P NİLOTİC TANISI KONULAN BİR OLGU (2016)
• EXOME RESULTS IN UNDIAGNOSED 46,XY DISORDER OF SEX DEVELOPMENT CASES WITH TARGETED NEXTGENERATION SEQUENCING. (2016)
• FANKONİ ANEMİLİ HASTALARDA MUTASYON SPEKTRUMU SEKİZ MUTASYONUN İLK DEFA TANIMLANMASI (2016)
• Mutation spectrum of the VHL gene mutations (2016)
• Optic disc drusen mimicking papilledema in an infant with Joubert syndrome (2015)
• RAB3GAP1 geninde homozigot mutasyon belirlenen birWarburg Micro Sendromu olgusu (2015)
• Bardet Biedel Sendromlu Hastalarda Moleküler Analiz ile Fenotip Genotip Korelasyonu (2015)
• Optıc Dısc Drusen Mımıckıng Papılledema In An Infant Wıth Joubert Syndrome (2015)
• Nadir görülen bir hastalık Filippi sendromu (2015)
• Molecular spectrum of alpha-globin gene mutations in the Aegean region of Turkey: first observation of three alpha-globin gene mutations in the Turkish population (2015)
• Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes (2015)
• OPTIC DISC DRUSEN MIMICKING PAPILLEDEMA IN AN INFANT WITH JOUBERT SYNDROME (2015)
• Molecular Basis of beta-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation (2015)
• Klinik ve Genetik Özellikleriyle Mandibuloakral Displazili Bir Olgu (2013)

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