الأستاذ الدكتور Adnan YÜKSEL

A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole-exome sequencing

New genetic approaches for early diagnosis and treatment of autism spectrum disorders

ASC-1 is a cell cycle regulator associated with severe and mild forms of myopathy

Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome

Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease

Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis

Whole-exome sequencing revealed two novel mutations in Usher syndrome

Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype and literature review

Demographic and clinical findings of cerebral palsy patients in Istanbul: a multicenter study

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

Therapeutic plasma exchange for malignant refractory status epilepticus: a case report

The effect of genetic polymorphisms of cytochrome P450 CYP2C9, CYP2C19 and CYP2D6 on drug-resistant epilepsy in Turkish children

Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis

Report of a patient with Temple-Baraitser syndrome

The drug-transporter gene MDR1 C3435T and G2677T/A polymorphisms and the risk of multidrug-resistant epilepsy in Turkish children

Melatonin attenuates phenytoin sodium-induced DNA damage

A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication

MicroRNA profiling in lymphocytes and serum of tyrosinemia type-I patients

Effects of memantine and melatonin on signal transduction pathways, vascular leakage and brain injury after focal cerebral ischemia in mice

Deficiency of selenium and zinc as a causative factor for idiopathic intractable epilepsy

Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder

Involvement of the corpus callosum splenium in a case with SSPE: magnetic resonance spectroscopy findings

Circumferential skin folds and multiple anomalies

A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia

Evidence that membrane-bound G protein-coupled melatonin receptors MT1 and MT2 are not involved in the neuroprotective effects of melatonin in focal cerebral ischemia

The very rare aglossia-adactylia syndrome with a novel finding of mental retardation

A new syndrome presenting with dysmorphic facies, oculocutaneous albinism, glaucoma, cryptorchidism and mental retardation

Intracranial ultrasound abnormalities and fetal cytomegalovirus infection: report of 8 cases and review of the literature

Glutathione S-transferase M1, GSTT1 and GSTP1 genetic polymorphisms and the risk of age-related macular degeneration

Spondyloepimetaphyseal dysplasia and Joubert syndrome in the same case: co-incidence, overlapping genetic locus or a novel feature for Joubert syndrome?

A family with three cases of two different skeletal dysplasia syndromes that represent the opposite ends of a spectrum

A rare variant of Michelin tire syndrome in a girl of first cousins

Polymorphisms of the DNA repair genes XPD and XRCC1 and the risk of age-related macular degeneration

Marked improvement in Segawa syndrome after L-dopa and selegiline treatment

Analysis of two patients with Desbuquois dysplasia

A case of hemiparesis, hemihypoplasia and athetoid posture with unilateral vision loss — an example of a very rare disorder: familial porencephaly

Identification of a unique translocation in a patient with Rubinstein-Taybi syndrome

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

In a girl with facial dysmorphism and mental/motor retardation

Sudden vision loss in a mucopolysaccharidosis I patient receiving enzyme replacement therapy

Expanding CEP290 mutational spectrum in ciliopathies

Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome

Mutational screening of BASP1 and transcribed processed pseudogene TPΨg-BASP1 in patients with Möbius syndrome

Magnetic resonance imaging, magnetic resonance spectroscopy and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation

Spontaneous intracranial hypotension syndrome in a patient with Marfan syndrome and autosomal dominant polycystic kidney disease

Cytogenetic findings in Joubert syndrome

Supernumerary chromosome der(22)t(11;22) Emanuel syndrome associates with novel feature

Molecular and cytogenetic results of 13 patients with Joubert syndrome

A patient with mental retardation and mild visual loss: Susac syndrome

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Evaluation of mental retardation — Part 1: etiologic classification of 4659 patients with mental retardation or multiple congenital abnormality and mental retardation

Evaluation of mental retardation — Part 2: the factors that elucidate the etiologic diagnosis of the patients with mental retardation or multiple congenital abnormality and mental retardation

Warburg Micro syndrome in a Turkish boy

Proteus syndrome with agenesis of the rectus abdominis

Facial dysmorphism in Leigh syndrome with SURF-1 mutation and COX deficiency

The effects of vigabatrin on rat liver antioxidant status

Mosaic supernumerary r(8) syndrome

Joubert syndrome co-existing with partial Xp trisomy: review of the literature

Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)

Epilepsy in vacuolating megalencephalic leukoencephalopathy with subcortical cysts

Dysmorphic face in two siblings with infantile neuroaxonal dystrophy

A case of acampomelic campomelic dysplasia

A family with reciprocal 4;7 translocation

Neuroblastoma in a dysmorphic girl with a partial duplication of 2p caused by an unbalanced translocation

A case of symbrachydactyly with oligodactyly

Changes in the antioxidant system in epileptic children receiving antiepileptic drugs: two-year prospective studies

A variant of Cenani-Lenz type syndactyly

Infantile-onset megalencephalic leucoencephalopathy in two siblings

Siblings with cystic leukoencephalopathy and megalencephaly

The effects of carbamazepine and valproic acid on the erythrocyte glutathione, glutathione peroxidase, superoxide dismutase and serum lipid peroxidation in epileptic children

Erythrocyte glutathione, glutathione peroxidase, superoxide dismutase and serum lipid peroxidation in epileptic children with valproate and carbamazepine monotherapy

Two female siblings with a previously unreported MCA/MR syndrome: pre- and postnatal growth retardation, iris colobomata, spasticity, facial dysmorphism and dilated ventricles

Neuroimaging findings of four patients with Sandhoff disease

N-acetyl-β-glucosaminidase and β-galactosidase activity in children receiving antiepileptic drugs

Prenatal diagnosis in IVF pregnancies: an indication for preimplantation genetics?

A family presenting Goltz syndrome (focal dermal hypoplasia) in three generations

Effects of carbamazepine and valproate on brainstem auditory evoked potentials in epileptic children

Influence of long-term carbamazepine treatment on thyroid function

Serum thyroid hormones and pituitary response to thyrotropin-releasing hormone in epileptic children receiving anti-epileptic medication

Tissue factor pathway inhibitor and coronary heart disease

Aglossia-adactyly syndrome with mental retardation

Clinical findings, MR imagings and cytogenetic studies in a series of 45 corpus callosum dysgenesis patients born to consanguineous parents

Combined L-dopa and selegiline therapy greatly improves the clinical picture in Segawa syndrome: a follow-up study on three siblings with a novel c.1475G mutation in the tyrosine hydroxylase (TH) gene

Type 3 rhizomelic chondrodysplasia punctata in a patient: a case report of a very rare disorder

Genotoxicity evaluation in chronic renal patients undergoing hemodialysis and peritoneal dialysis using the micronucleus test

A series of patients with Rubinstein-Taybi syndrome: review of clinical features

Neuhauser syndrome with novel findings: a case report of a rare disorder

DNA repair gene polymorphisms in dialysis patients

Novel tyrosine hydroxylase gene mutation in three Turkish siblings with dopamine-responsive dystonia

Corpus callosum agenesis in three patients with Moebius syndrome

Benign lymphoepithelial lesion of parotid gland in a patient with Keutel syndrome and her two sibs with classic Keutel syndrome

Cytochrome C oxidase deficiency and SURF1 gene mutation in Leigh syndrome

Warburg Micro syndrome

Factor V Leiden and prothrombin G20210A mutations in children with cerebral palsy

Two female siblings with pre- and postnatal growth retardation, iris colobomata, spasticity, facial dysmorphism and dilated ventricles

A case of synbrachydactyly with oligodactyly

Russell-Silver syndrome: a follow-up study

Urinary lysosomal enzyme activities in children receiving antiepileptic drugs

Neuroblastoma in a dysmorphic girl with de novo 2p trisomy and 17q monosomy

Two brothers with partial trisomy 9p

The erythrocyte glutathione, glutathione peroxidase, superoxide dismutase and serum lipid peroxidation levels in children receiving carbamazepine and valproate

Effects of carbamazepine and valproate on evoked potentials in epileptic children

A case of Lowe syndrome associated with maladaptive behaviours

Galactosidase and glucosidase enzyme levels in healthy Turkish children

Two brothers with ataxia telangiectasia, one with t(14;14) finding

Evoked potentials in partial epileptic children

Single photon emission computed tomography in partial epilepsy

Gene therapy (chapter in "Molecular Biology and Genetics: Advanced Applications in Health and Biotechnology", Turkish Academy of Sciences Publications, Science and Thought Series No. 49, pp. 453-477, ISBN 978-625-8352-16-0)

Gene therapy in childhood neurological diseases (chapter in "Temel Pediatrik Nöroloji Tanı ve Tedavi", Vol. 1, Akademisyen Kitabevi, ISBN 9786258299168)

The use of genetic tests in pediatric neurology practice (chapter in "Temel Pediatrik Nöroloji Tanı ve Tedavi", Vol. 1, Akademisyen Kitabevi, ISBN 9786258299168)

Temel Genetik Ders Kitabı (textbook, Istanbul University Publications)

Nöroloji ve Genetik (textbook, Alp Ofset)

Tıbbi Biyoloji Ders Notları 1 (textbook, Nobel Tıp Kitabevi)

Rett syndrome: from mutation to clinic

Effects of long-term carbamazepine treatment on thyroid functions in children with complex partial epilepsy

Clinical features of Guillain-Barré syndrome in childhood

Tc99m-HMPAO brain SPECT in childhood epilepsies

A case of optic glioma presenting with diencephalic syndrome

Prenatal and perinatal risk factors in children with cerebral palsy

Evaluation and development of electrophysiological findings from the newborn period through childhood

The effect of antiepileptic drug use on glutathione, glutathione peroxidase, SOD and lipid peroxidation

Focal dermal hypoplasia (Goltz syndrome) associated with giant papillomas and hypogammaglobulinaemia

Carnitine levels in children with Down syndrome

Electrophysiological and cerebral imaging features of two cases of GM2 gangliosidosis 0 variant (Sandhoff disease)

The effect of antiepileptic drugs on N-acetyl-β-glucosaminidase and β-galactosidase activity in epileptic children

Four-year prospective follow-up of the neurological development of normal-term infants with Down syndrome

Dubowitz syndrome in two sisters

A syndrome variant

The effect of antiepileptic drugs on N-acetyl-β-glucosaminidase and β-galactosidase activity in epileptic children

Endothelium-derived proteins and hyperhomocysteinaemia

The role of the fibrinolytic system in the pathogenesis of atherosclerosis

Leukoencephalopathy beginning in infancy: presentation of two sibling cases

Platelet cell functions in coronary artery disease

Evaluation of visual functions with cerebral imaging and visual evoked potential studies in children with cerebral palsy

Two sisters with mental retardation, spasticity, ventricular dilatation and facial dysmorphism

Antioxidant system changes in epileptic children receiving carbamazepine and valproate

Head circumference, height and weight percentiles of Turkish children with Down syndrome

Tissue factor inhibitors in coronary heart disease

Vitamin and mineral status of patients with Down syndrome

Metabolic disturbances developing during status epilepticus and ammonia metabolism

The effects of antiepileptic treatment on serum thyroid hormones and the hypothalamic-pituitary axis in children

Risk factors in febrile convulsion

A case of Aicardi syndrome presenting with convulsion

Brainstem audiometry in preterm infants receiving aminoglycosides

Vestibular rehabilitation in children with pervasive developmental disorder: a case report

Three cases of Moebius syndrome: is corpus callosum agenesis a component of Moebius syndrome?

Three siblings with Segawa syndrome accompanied by facial dysmorphism: a novel mutation p.P492R in the tyrosine hydroxylase gene

A case report of Micro syndrome

Three case reports of pseudorheumatoid dysplasia

Joubert syndrome

Cerebral imaging and facial findings in two cases of Leigh syndrome

Clinical signs, aetiology and pathogenesis of specific learning disorders

Autism and genetics

Early diagnosis in cerebral palsy

The effects of vigabatrin on rat foetuses

Antioxidant system changes in epileptic children: a two-year prospective study

Clinicopathological features of four siblings with gamma sarcoglycanopathy

Specific genetic diagnosis rates in 3025 children with mental retardation

Specific genetic diagnosis rates in the multiple congenital anomaly / mental retardation group examined in the genetics outpatient clinic

A case report of synbrachydactyly and oligodactyly

Clinical and biochemical evaluation of teratogenic effects due to gestational use of antiepileptic drugs

Trisomy 9p syndrome in two brothers with new clinical findings and review of the literature