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SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler
Dysregulation of mTOR signalling is a converging mechanism in lissencephaly.
A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability
Management of rare and undiagnosed diseases: insights from researchers and healthcare professionals in Türkiye
Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients.
Clinical and Molecular Analysis in Patients with Peutz-Jeghers Syndrome
Phenotypic comparison of a novel variant (p.P164R) and A founder mutation (c.748+1G>A) in Warburg Micro syndrome
Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey
Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center
International Journal of Developmental Neuroscience
, cilt.83, sa.5, ss.456-465, 2023 (SCI-Expanded)
MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in <i>SAMD9</i>
Unexpected finding in kidney biopsy of a child with nephrotic proteinuria: Answers
Unexpected finding in kidney biopsy of a child with nephrotic proteinuria: Questions
Hemoglobin A(1C) can differentiate subjects with GCK mutations among patients suspected to have MODY.
Journal of pediatric endocrinology & metabolism : JPEM
, cilt.35, sa.12, ss.1528-1536, 2022 (SCI-Expanded)
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome.
Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations.
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
Importance of multigene panel test in patients with consanguineous marriage and family history of breast cancer
Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation sequencing panel and MLPA analysis in Turkey
Familial clustering of nasopharyngeal carcinoma in the family of an adolescent with nasopharyngeal carcinoma
Cerebral developmental venous anomalies in children with mismatch repair deficiency.
Clinical Features, Treatment and Outcome of Childhood Glial Tumors.
A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability.
Peripheral Expression of MACROD2 Gene Is Reduced Among a Sample of Turkish Children with Autism Spectrum Disorder
PSYCHIATRY AND CLINICAL PSYCHOPHARMACOLOGY
, cilt.31, sa.3, ss.261-269, 2021 (SCI-Expanded)
<i>Biallelic ZNF335</i> mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy.
METAP1mutation is a novel candidate for autosomal recessive intellectual disability
Nasopharyngeal carcinoma in a child with Kartagener's syndrome
COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome
Biallelic loss of human CTNNA2, encoding alpha N-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration
Schaffer A. E., Breuss M. W., ÇAĞLAYAN A. O., Al-Sanaa N., Al-Abdulwahed H. Y., Kaymakcalan H., et al.
NATURE GENETICS
, cilt.50, sa.8, ss.1093-1107, 2018 (SCI-Expanded)
PlumX Metrics
- Citations
- Citation Indexes: 62
- Policy Citations: 1
- Captures
- Readers: 96
- Mentions
- Blog Mentions: 2
- News Mentions: 6
Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families
Biallelic mutations in the 3 ' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder
CELL
, cilt.167, sa.6, ss.1481-1512, 2016 (SCI-Expanded)
PlumX Metrics
- Citations
- Citation Indexes: 263
- Captures
- Readers: 510
- Mentions
- Blog Mentions: 5
- News Mentions: 8
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.99, sa.2, ss.501-510, 2016 (SCI-Expanded)
PlumX Metrics
- Citations
- Citation Indexes: 64
- Captures
- Readers: 110
- Mentions
- Blog Mentions: 2
- News Mentions: 8
A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP
Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population
Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy
A rare case of congenital fibrosis of extraocular muscle type IA due to KIF2IA mutation with Marcus Gunn jaw-winking phenomenon
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
, cilt.19, sa.6, ss.743-746, 2015 (SCI-Expanded)
The Effects of Ketogenic Diet on Seizures, Cognitive Functions, and Other Neurological Disorders in Classical Phenotype of Glucose Transporter 1 Deficiency Syndrome
Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy
Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors
Brain Malformations Associated With Knobloch Syndrome-Review of Literature, Expanding Clinical Spectrum, and Identification of Novel Mutations
Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, cilt.164, sa.7, ss.1677-1685, 2014 (SCI-Expanded)
CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration
CELL
, cilt.157, sa.3, ss.651-663, 2014 (SCI-Expanded)
PlumX Metrics
- Citations
- Citation Indexes: 210
- Policy Citations: 1
- Captures
- Readers: 279
- Mentions
- News Mentions: 1
Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum
Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO
SCIENCE
, cilt.339, sa.6123, ss.1077-1080, 2013 (SCI-Expanded)
PlumX Metrics
- Citations
- Citation Indexes: 716
- Patent Family Citations: 1
- Policy Citations: 3
- Captures
- Readers: 384
- Mentions
- References: 1
Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
, cilt.110, sa.9, ss.3489-3494, 2013 (SCI-Expanded)
A new syndrome of microtia with unilateral renal agenesis and short stature
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, cilt.158A, sa.8, ss.1837-1840, 2012 (SCI-Expanded)
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey
Idiopathic hirsutism: local and peripheral expression of aromatase (CYP19A) and 5 alpha-reductase genes (SRD5A1 and SRD5A2)
Recessive LAMC3 mutations cause malformations of occipital cortical development
The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis
Magnetic Resonance Spectroscopy in Two Siblings with Chorea-Acanthocytosis
Different aspects of atrial fibrillation genetics
INTERACTIVE CARDIOVASCULAR AND THORACIC SURGERY
, cilt.11, sa.6, ss.779-783, 2010 (SCI-Expanded)
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex
Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
, cilt.52, sa.9, ss.868-872, 2010 (SCI-Expanded)
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
NATURE
, cilt.467, sa.7312, ss.207-211, 2010 (SCI-Expanded)
PlumX Metrics
- Citations
- Citation Indexes: 420
- Policy Citations: 3
- Captures
- Readers: 500
- Mentions
- References: 4
MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study
NEPHROLOGY DIALYSIS TRANSPLANTATION
, cilt.25, sa.8, ss.2520-2523, 2010 (SCI-Expanded)
A Very Rare Neurocutaneous Disorder in 2 Siblings: Sjogren-Larsson Syndrome
Are heterochromatin polymorphisms associated with recurrent miscarriage?
JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH
, cilt.36, sa.4, ss.774-776, 2010 (SCI-Expanded)
Genetic causes of syndromic and non-syndromic autism
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
, cilt.52, sa.2, ss.130-138, 2010 (SCI-Expanded)
PlumX Metrics
- Citations
- Citation Indexes: 83
- Policy Citations: 3
- Clinical Citations: 1
- Captures
- Readers: 269
- Mentions
- News Mentions: 4
Expression of WT1 gene in multiple myeloma patients at diagnosis: is WT1 gene expression a useful marker in multiple myeloma?
The Deletion Polymorphism of the Angiotensin-Converting Enzyme Gene Is Associated with Acute Aortic Dissection
TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE
, cilt.219, sa.1, ss.33-37, 2009 (SCI-Expanded)
Detection of p16 promotor hypermethylation in "Maras powder" and tobacco users
Frank-ter Haar syndrome with unusual clinical features
Inherited diseases and syndromes leading to aortic aneurysms and dissections
EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY
, cilt.35, sa.6, ss.931-940, 2009 (SCI-Expanded)
The Relationship Between Slow Coronary Flow and Angiotensin Converting Enzyme and ATIIR1 Gene Polymorphisms
JOURNAL OF THE NATIONAL MEDICAL ASSOCIATION
, cilt.101, sa.1, ss.40-45, 2009 (SCI-Expanded)
Apolipoprotein E3/E3 Genotype Decreases the Risk of Pituitary Dysfunction after Traumatic Brain Injury due to Various Causes: Preliminary Data
Holt-Oram syndrome in two generations with translocation t(9;15)(p12;q11.2)
Clinical and radiographic delineation of odontochondrodysplasia
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, cilt.146A, sa.6, ss.770-778, 2008 (SCI-Expanded)
The effect of maras powder on DNA methylation and micronucleus formation in human buccal tissue
JOURNAL OF TOXICOLOGY AND ENVIRONMENTAL HEALTH-PART A-CURRENT ISSUES
, cilt.71, sa.6, ss.396-404, 2008 (SCI-Expanded)
Molybdenum cofactor deficiency: Clinical features in a Turkish patient
Sacrococcygeal teratoma in a fetus with prenatally diagnosed partial trisomy 10q (10q24.3 -> qter) and partial monosomy 17p (p13.3 -> pter)
Prenatal diagnosis of a fetus with partial trisomy 7p
Diğer Dergilerde Yayınlanan Makaleler
A female case with multicystic dysplastic kidney: new findings, genetic counseling, and literature review
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler
A RARE CAUSE OF COMBINED HEPATIC AND RENAL FAILURE: NPHP19 DUE TO A NOVEL DCDC2 VARIANT IN TWO SIBLINGS
54th ESPN Annual Meeting, Ljubljana, Slovenia, Slovenya, 22 - 25 Haziran 2022, cilt.37, ss.2854-2855, (Özet Bildiri)
Pathogenic variations of MUTYH gene in hereditary cancer cases
V. International Participated Erciyes Medical Genetics Days Congress, Nevşehir, Türkiye, 20 - 22 Şubat 2020, ss.78, (Tam Metin Bildiri)
MACROD2 gene expression profile in autism spectrum disorder: a case-control study
11th International Congress on Psychopharmacology 7th International Symposium on Child and Adolescent Psychopharmacology, 18 - 21 Nisan 2019, cilt.29, ss.1-112, (Tam Metin Bildiri)
Severe speech delay in Cohen Syndrome: three novel mutations and the long-term follow-up of nine patients
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, İtalya, 16 - 19 Haziran 2018, cilt.27, ss.315-316, (Özet Bildiri)
Novel gene identification via whole exome sequencing in patients diagnosed with primary autosomal recessive primary microcephaly
International Participated Erciyes Medical Genetics Days 2019, Türkiye, 21 - 23 Şubat 2019, (Özet Bildiri)
A NOVEL CENTROMERE PROTEIN F MUTATION IN A PEDIATRIC PATIENT WITH PRESENTATION OF MOTOR AND MENTAL RETARDATION, MICROCEPHALY AND DRUG-RESISTANT EPILEPSY
32nd International Epilepsy Congress, Barcelona, İspanya, 2 - 06 Eylül 2017, cilt.58, (Özet Bildiri)
Severe Walker Warburg syndrome associated with new mutation in ISPD gene identified with whole exome sequencing
21st International Congress of the World-Muscle-Society, Granada, Nikaragua, 4 - 08 Ekim 2016, cilt.26, (Özet Bildiri)
Constitutive mismatch repair defect syndrome: New insights from whole exome sequencing data and functional studies
European Biotechnology Conference, Letonya, 5 - 07 Mayıs 2016, cilt.231, (Özet Bildiri)
FBOX07 mutation with juvenile Parkinsonism and behavioral disorders
20th International Congress of Parkinson's Disease and Movement Disorders, Berlin, Almanya, 19 - 23 Haziran 2016, cilt.31, (Özet Bildiri)
THE CLASSICAL PHENOTYPE OF GLUCOSE TRANSPORTER-1 DEFICIENCY SYNDROME (GLUT-1 DS): DIFFERENT CLINICAL EXPRESSION AND KETOGENIC DIET RESULTS OF PEDIATRIC PATIENTS
31st International Epilepsy Congress, İstanbul, Türkiye, 5 - 09 Eylül 2015, cilt.56, ss.87, (Özet Bildiri)
Exomic sequencing in cortical malformations
European Biotechnology Congress, İstanbul, Türkiye, 28 Eylül - 01 Ekim 2011, cilt.22, (Özet Bildiri)
No significant expression of Wt1 gene in multiple myeloma patients at diagnosis: Is Wt1 gene expression useful marker for minimal residual disease in multiple myeloma?
49th Annual Meeting of the American-Society-of-Hematology, Georgia, Amerika Birleşik Devletleri, 8 - 11 Aralık 2007, cilt.110, (Özet Bildiri)
Circulating testosterone regulates the local GnRH-II expression in peripheral lymphocytes: An in vivo interaction in patients with idiopathic hypogonadotrophic hypogonadism (IHH)
6th International Congress of Neuroendocrinology, Pennsylvania, Amerika Birleşik Devletleri, 19 - 22 Haziran 2006, cilt.27, ss.107, (Özet Bildiri)
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