Asude DURMAZ

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

Araştırma alanları: Sağlık Bilimleri, Tıp, Dahili Tıp Bilimleri, Tıbbi Genetik, Çocuk Sağlığı ve Hastalıkları, Temel Bilimler, Yaşam Bilimleri, Temel Tıp Bilimleri, İç Hastalıkları, Pediatrik İmmünoloji ve Allerji

Yayınlar

Unclassified Inborn Errors of Immunity Patients without any Pathogenic Variant in Targeted Next-Generation Sequencing: Long-Term Follow-up and Whole Exome Sequencing Results (2026)
Low IgM Levels in Adult IEI: Classification Challenges and Clinical Implications (2026)
Beyond Type 1 Diabetes: Clinical and Genetic Clues to Glucokinase Maturity-Onset Diabetes of the Young in Children (2026)
Insights into skeletal involvement in adult Gaucher disease: a single-center experience (2025)
Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes (2025)
Nutritional management and geno-phenotyping of clinical nutrition in patients with glycogen storage diseases type VI and IX (2025)
Neonatal/infantile‐onset genetic epilepsies: The utility of genetic testing for molecular etiology‐specific diagnosis concerning therapeutic implications (2025)
EVALUATION OF EXPERIENCED CLINICAL EVENTS IN POMPE DISEASE BASED ON REAL-LIFE DATA. (2025)
Genotype–Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study (2025)
Next generation sequencing in children with isolated congenital cataract (2025)
Novel Missense Variant in the PAN2 Gene Associated With Congenital Anomalies and Neurodevelopmental Delay: Expanding the Phenotypic and Mutational Spectrum of PAN2‐Related Disorders (2025)
Genotype-specific neoplastic risk profiles in patients with VHL disease (2025)
A novel pathogenic variant of the glucocorticoid receptor gene, causing generalized glucocorticoid resistance: a case report and review of the literature (2025)
O-17 FAMILIAL HYPOCALCIURIC HYPERCALCEMIA AND PRIMARY HYPERPARATHYROIDISM: A CASE REPORT OF AN UNUSUAL ASSOCIATION (2025)
Neonatal/infantile‐onset genetic epilepsies: The utility of genetic testing for molecular etiology‐specific diagnosis concerning therapeutic implications (2025)
A novel pathogenic variant of the glucocorticoid receptor gene, causing generalized glucocorticoid resistance: a case report and review of the literature (2025)
Expanding the genetic spectrum of short rib polydactyly syndrome: Novel DYNC2H1 variants and functional insights (2025)
How narrow is narrow QRS in premature ventricular contractions? A novel variant of SCN5A-associated MEPPC (2025)
Leber’s Hereditary Optic Neuropathy from a Rare Variant, m.3700 G > A, in the MT-ND1 Gene in a Family (2025)
Bi‐Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype–Phenotype Correlations From 61 Patients (2025)
Familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a case report of an unusual association and literature review (2025)
Genotype–phenotype associations in a robust cohort of 69 patients with xeroderma pigmentosum across Türkiye: a multicentre study (2025)
Cross‐Sectional Analysis of Metabolic Tumor Burden Detected by F‐18 FDG PET/CT and Circulating Tumor DNA in Advanced Breast Cancer (2025)
Malignancy in Adults with Inborn Errors of Immunity: A Retrospective Single-Center Study (2025)
CARD9 Mutations in Patients with Invasive Fungal Infections (2025)
Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants (2024)
Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl (2024)
P-15 A rare case of Trichorhinophalangeal Syndrome Type I (2024)
Anaplastik Tiroit Kanserinde Somatik Mutasyonların Hastaların Sağkalımına Etkisi (2024)
Assessment of MMP levels in reversible and irreversible pulpitis and a randomized controlled trial comparing clinical success of two different calcium-silicate cements in pulpotomy treatment of primary molars with an 18-month follow-up (2024)
Uniparental Disomy of Chromosome 4: A Case of Whole Chromosome UPD Presenting with LRBA Deficiency (2024)
P.126: Recurrence of aa amyloidosis in kidney transplant recipients. (2024)
Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application (2024)
Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey (2023)
Current genetic defects in common variable immunodeficiency patients on the geography between Europe and Asia: a single-center experience (2023)
An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission (2023)
Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl (2023)
Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey (2023)
Current genetic defects in common variable immunodeficiency patients on the geography between Europe and Asia: a single-center experience (2023)
Yaygın Değişken İmmün Yetmezlikte Tanımlanan Genetik Defektler (2023)
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG (2023)
A Rare Case of Monogenic Obesity due to a Novel Variant in the ADCY3 Gene: Challenges in Follow-up and Treatment (2023)
Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form (2023)
Current Genetic Defects in Common Variable Immune Deficiency Patients on the Geography Between Europe and Asia (2023)
Expanding the spectrum of short rib thoracic dysplasia case with a novel nonsynonymous and a synonymous variant in DYNC2H1 (2023)
A Rare Cause of Developmental Epileptic Encephalopathy: D-Bifunctional Protein Deficiency with a Novel Pathogenic Variant (2023)
Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants (2022)
LSM1 is the new candidate gene for neurodevelopmental disorder (2022)
The role of matrix metalloproteinases in the primary teeth pulpotomy treatments with MTA and Biodentine (2022)
Investigation of miRNA and cytokine expressions in latent tuberculosis infection and active tuberculosis (2022)
Investigation of miRNA and cytokine expressions in latent tuberculosis infection and active tuberculosis (2022)
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium (2022)
A Remarkable Case of Autoimmune Polyendocrinopathy, Candidiasis and Ectodermal Dystrophy Syndrome (APECED) misdiagnosed as Juvenile Idiopathic Arthritis on admission (2022)
Clinical and molecular evaluation of <i>MEFV</i> gene variants in the Turkish population: a study by the National Genetics Consortium (2022)
Propolis Extract Regulates microRNA Expression in Glioblastoma and Brain Cancer Stem Cells. (2022)
A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years (2022)
A novel Mecom gene mutation associated with amegakaryocytic thrombocytopenia in a premature infant (2022)
Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl (2022)
A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years (2022)
Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variants (2022)
The association between genetic polymorphisms in matrix metalloproteinases and caries experience (2021)
Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA-2; PLCG2): Striking clinical phenotypic overlap and difference (2021)
Matriks metalloproteinazları genleri polimorfizmleri ve diş çürükleri ilişkisi (2021)
20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey (2021)
Erratum: X-linked agammaglobulinemia: investigation of clinical and laboratory findings, novel gene mutations and prevention of infective complications in long-term follow-up. (2021)
YENİDOĞAN BEBEKLERDE NEKROTİZAN ENTEROKOLİT OTOİNFLAMATUAR HASTALIĞIN GÖSTERGESİ MİDİR ? (2021)
The first reported case of Arboleda-Tham Syndrome from Turkey with a de novo mutation in KAT6A gene (2021)
MOLEKÜLER TANIDA ZORLUK YAŞANAN CİNSİYET GELİŞİM BOZUKLUĞU OLGUSU: NR5A1 GENİNDE YENİ VARYANT (2021)
A NOVEL MUTATION IN CRTAP CAUSING OSTEOGENESIS IMPERFECTA TYPE VII IN AN INFANT WITH LONG-TERM FOLLOW-UP DATA (2021)
Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: A novel finding in whole exome sequencing (2021)
A Novel Homozygous TRNT1 Mutation in a Child with an Early Diagnosis of Common Variable Immunodeficiency Leading to Mild Hypogammaglobulinemia and Hemolytic Anemia (2021)
Combined immunodeficiency with marginal zone lymphoma due to a novel homozygous mutation in IL-21R gene and successful treatment with hematopoietic stem cell transplantation (2021)
X-linked agammaglobulinemia: investigation of clinical and laboratory findings, novel gene mutations and prevention of infective complications in long-term follow-up (2021)
A New Cause of Obesity Syndrome Associated with a Mutation in Carboxypeptidase (CPE) Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism (2021)
X-linked agammaglobulinemia: ınvestigation of clinical and laboratory findings, novel gene mutations and prevention of ınfective complications in long-term follow-up. (2021)
Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA-2; PLCG2 ): striking clinical phenotypic overlap and difference (2021)
X-linked agammaglobulinemia: ınvestigation of clinical and laboratory findings, novel gene mutations and prevention of ınfective complications in long-term follow-up (2021)
A case of gender developmental disorder with difficulty in molecular diagnosis: new variant in NR5A1 gene (2021)
Human immune disorder associated with homozygous hypomorphic mutation affecting MALT1B splice variant (2021)
The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum (2021)
20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey (2021)
Different clinical entities of the same mutation: a case report of three sisters with Wolfram syndrome and efficacy of dipeptidyl peptidase-4 inhibitor therapy (2021)
A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism (2021)
Cerebral folate transporter deficiency: a potentially treatable neurometabolic disorder (2021)
TYR GENİNDE DELESYON SAPTANAN OKÜLOKÜTANÖZ ALBİNİZMLİ BİR OLGU (2020)
Progressive Multifocal Leukoencephalopathy Associated with Idiopathic CD4+Lymphocytopenia in a Patient with Heterozygous STAT4 Mutation (2020)
Dirençli Epilepsinin Tedavi Edilebilir Bir Nedeni: Piridoksin Bağımlı Epilepsi (2020)
Clinical and molecular aspects of PTEN mutations in 10 pediatric patients (2020)
Co-occurrences of polymorphic heterochromatin regions of chromosomes and effect on reproductive failure (2020)
Akut miyeloid lösemi (AML) hastalarında sitogenetik, moleküler sitogenetik, moleküler genetik ve klinik sonuçların retrospektif analizi; tek merkezden 4 yıllık veri analizi (2020)
Co-occurrences of polymorphic heterochromatin regions of chromosomes and effect on reproductive failure. (2020)
Co-occurrences of polymorphic heterochromatin regions of chromosomes and effect on reproductive failure (2020)
Kanserde Genetik Tabanlı Tarama Testleri (2020)
RECURRENT GENITAL WARTS RELATED WITH MUTATION OF PIK3R1 GENE (2020)
Çocukluk çağı akut lenfoblastik lösemide FISH yöntemi ile kromozomal yeniden düzenlenmelerin tespiti (2020)
COL7A1 GENİNDE HOMOZİGOT SİNONİM MUTASYON: EPİDERMOLİZİS BÜLLOZA KLİNİĞİ (2020)
Tüm Ekzom Dizi Analizi ile MMP21 Mutasyonu Saptanan Otozomal Visseral Heterotaksi Ailesi (2020)
SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey (2020)
Human immune disorder associated with homozygous hypomorphic mutation affecting MALT1B splice variant (2020)
Dirençli Epilepsinin Tedavi Edilebilir Bir Nedeni: Piridoksin Bağımlı Epilepsi (2020)

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