Eğitim Bilgileri
1993 - 1996
1993 - 1996Tıpta Uzmanlık
Erciyes Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Türkiye
Yönetimsel Görevler
2015 - 2015
2015 - 2015MYO Müdürü
Yüksek İhtisas Üniversitesi
2015 - 2015
2015 - 2015Bölüm Başkanı
Yüksek İhtisas Üniversitesi
Yönetilen Tezler
SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler
2022
2022Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS)
Gökpınar İli E., Taşdelen E., Durmaz C. D., ALTINER Ş., TUNCALI T., Martinez-Glez V., et al.
American Journal of Medical Genetics, Part A
, cilt.188, sa.6, ss.1792-1800, 2022 (SCI-Expanded)
2022
2022A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation
Kilavuz S., Basaranoglu M., Epcacan S., Bako D., Ozer A., Donmez Y. N., et al.
METABOLIC BRAIN DISEASE
, cilt.37, sa.4, ss.1283-1287, 2022 (SCI-Expanded)
2022
2022Niemann-Pick type C disease with a novel intronic mutation: Three Turkish cases from the same family
Klllç Ylldlrlm G., YARAR C., Şeker Yllmaz B., CEYLANER S.
Journal of Pediatric Endocrinology and Metabolism
, cilt.35, ss.535-541, 2022 (SCI-Expanded)
2022
2022Successful therapeutic plasma exchange in a case with extremely severe hypertriglyceridemia secondary to diabetic ketoacidosis concomitant with type IX glycogen storage disease
KİŞİOĞLU M., YEŞİLBAŞ O., GÜVEN B., CEYLANER S., KARAGÜZEL G.
Transfusion and Apheresis Science
, cilt.61, sa.1, 2022 (SCI-Expanded)
2022
2022First Case of MELAS Syndrome Presenting with Local Brain Edema Requiring Decompressive Craniectomy
YEŞİLBAŞ O., Sengenc E., Olbak M. E., Bako D., Nizam O. G., SEYİTHANOĞLU M. H., et al.
Turkish Neurosurgery
, cilt.32, sa.1, ss.155-159, 2022 (SCI-Expanded)
2021
2021Glucose-6-phosphate dehydrogenase gene Ala365Thr mutation in an Iraqi family with confusing clinical differences
Akisin Y. A., Arslan Z., CEYLANER S., Akar N.
Turkish Journal of Biochemistry
, cilt.46, sa.6, ss.729-731, 2021 (SCI-Expanded)
2021
2021Rare slow channel congenital myasthenic syndromes without repetitive compound muscle action potential and dramatic response to low dose fluoxetine
Durmus H., Sticht H., CEYLANER S., Hashemolhosseini S., Deymeer F.
Acta Neurologica Belgica
, cilt.121, sa.6, ss.1755-1760, 2021 (SCI-Expanded)
2021
2021Glycogen storage disease type XII; An ultra rare cause of hemolytic anemia and rhabdomyolysis: One new case report
Kara E., KOR D., Bulut F. D., Hergüner Ö., CEYLANER S., Köşeci B., et al.
Journal of Pediatric Endocrinology and Metabolism
, cilt.34, sa.10, ss.1335-1339, 2021 (SCI-Expanded)
2021
2021Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3)
Durmus H., Mertoğlu E., Sticht H., CEYLANER S., Kulaksızoğlu I. B., Hashemolhosseini S., et al.
Neurological Sciences
, cilt.42, sa.9, ss.3871-3878, 2021 (SCI-Expanded)
2021
2021Retrospective evaluation of patients with X-linked adrenoleukodystrophy with a wide range of clinical presentations: A single center experience
Olgac A., Kasapkara Ç. S., Derinkuyu B., Yüksel D., Çetinkaya S., Aksoy A., et al.
Journal of Pediatric Endocrinology and Metabolism
, cilt.34, sa.9, ss.1169-1179, 2021 (SCI-Expanded)
2021
2021Molecular and clinical findings of Turkish patients with hereditary fructose intolerance
Gunduz M., Ünal-Uzun Ö., Koç N., CEYLANER S., Özaydln E., Kasapkara Ç. S.
Journal of Pediatric Endocrinology and Metabolism
, cilt.34, sa.8, ss.1017-1022, 2021 (SCI-Expanded)
2021
2021Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia
Bayrak H., YILDIZ Y., Olgaç A., Kasapkara Ç. S., Küçükcongar A., Zenciroğlu A., et al.
Metabolic Brain Disease
, cilt.36, sa.6, ss.1213-1222, 2021 (SCI-Expanded)
2021
2021Isolated congenital diaphragm hernia associated with homozygous SLIT3 gene variant in dizygous twins
Kaya T. B., AYDEMİR Ö., CEYLANER S., Ceylaner G., TEKİN A. N.
European Journal of Medical Genetics
, cilt.64, sa.7, 2021 (SCI-Expanded)
2021
2021Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy
Wong H. H., Seet S. H., Maier M., Gurel A., Traspas R. M., Lee C., et al.
American Journal of Human Genetics
, cilt.108, sa.7, ss.1301-1317, 2021 (SCI-Expanded)
2021
2021Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and literature review
Unal E., Demiral M., Yıldırım R., Taş F. F., CEYLANER S., Özbek M. N.
Hormones
, cilt.20, sa.2, ss.293-298, 2021 (SCI-Expanded)
2021
2021Antioxidant Therapy in a Patient with Hyperprolinemia Type 1 Presenting with Mild Neuromotor Retardation and Speech Disturbance
Ersoy M., Yılmaz S., CEYLANER S.
Indian Journal of Pediatrics
, cilt.88, sa.6, ss.601, 2021 (SCI-Expanded)
2021
2021A Novel mRNA Modification Mutation in a Patient With Ligneous Conjunctivitis Coexisting With Heterozygous Familial Mediterranean Fever Mutation
Koseoglu N. D., CEYLANER S., YILDIRIM N.
Cornea
, cilt.40, sa.6, ss.764-768, 2021 (SCI-Expanded)
2021
2021LRBA deficiency: a rare cause of type 1 diabetes, colitis, and severe immunodeficiency
Kardelen A. D., Kara M., Güller D., KARAKILIÇ ÖZTURAN E., Abalı Z. Y., CEYLANER S., et al.
Hormones
, cilt.20, sa.2, ss.389-394, 2021 (SCI-Expanded)
2021
2021More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
Dhooge T., Van Damme T., Syx D., Mosquera L. M., Nampoothiri S., Radhakrishnan A., et al.
Human Mutation
, cilt.42, sa.6, ss.711-730, 2021 (SCI-Expanded)
2021
2021Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patients
GÜL MERT G., ÖZCAN N., Hergüner Ö., ALTUNBAŞAK Ş., İNCECİK F., BİŞGİN A., et al.
Acta Neurologica Belgica
, cilt.121, sa.2, ss.529-534, 2021 (SCI-Expanded)
2021
2021Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Resembling Juvenile Idiopathic Arthritis: A Single-Center Experience from Southern Turkey
Ekinci R. M. K., Balci S., Dogan H., CEYLANER S., Varan C., Erdem S., et al.
Molecular Syndromology
, cilt.12, sa.2, ss.112-117, 2021 (SCI-Expanded)
2021
2021A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing
Cakmak Celik F., Ozlu M. M., CEYLANER S.
Clinical Neurology and Neurosurgery
, cilt.202, 2021 (SCI-Expanded)
2021
2021Is Bioavailable Vitamin D Better Than Total Vitamin D to Evaluate Vitamin D Status in Obese Children?
Karacan Küçükali G., GÜLBAHAR Ö., Özalkak Ş., Dağlı H., CEYLANER S., AYCAN Z., et al.
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.13, sa.4, ss.391-399, 2021 (SCI-Expanded)
2021
2021An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment
Koç Yekedüz M., DOĞULU N., Öncül Ü., KÖSE E., CEYLANER S., EMİNOĞLU F. T.
Molecular Syndromology
, 2021 (SCI-Expanded)
2021
2021Novel mutations in trpm6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report
Papez J., Starha J., Slaba K., Hubacek J. A., Pecl J., Aulicka S., et al.
Biomedical Papers
, cilt.165, sa.4, ss.454-457, 2021 (SCI-Expanded)
2021
2021Clinical and genetic characteristics of patients with corticosterone methyloxidase deficiency type 2: Novel mutations in cyp11b2
Turan H., Çakır A. D., Özer Y., Tarçın G., Özcabi B., CEYLANER S., et al.
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.13, sa.2, ss.232-238, 2021 (SCI-Expanded)
2021
2021Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia
Şeker Yilmaz B., Kor D., Bulut F. D., Kilavuz S., CEYLANER S., Önenli Mungan H. N.
Turkish Journal of Medical Sciences
, cilt.51, sa.3, ss.1220-1228, 2021 (SCI-Expanded)
2021
2021Brown Vialetto Van Laere syndrome: Presenting with left ventricular non-compaction and mimicking mitochondrial disorders
Yılmaz B. Ş., CEYLANER S., Mungan N. Ö.
Turkish Journal of Pediatrics
, cilt.63, sa.2, ss.314-318, 2021 (SCI-Expanded)
2021
2021Treatment difficulties in hypomagnesemia secondary to the transient receptor potential melastatin 6 gene: A case report with novel mutation
Yücel H., Sel Ç. G., Kasapkara Ç. S., Küçükali G. K., Savas-Erdeve S., Öztoprak Ü., et al.
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.13, sa.1, ss.114-118, 2021 (SCI-Expanded)
2021
2021Genetic management algorithm in high-risk fabry disease cases; especially in female indexes with mutations
Sezer O., CEYLANER S.
Endocrine, Metabolic and Immune Disorders - Drug Targets
, cilt.21, sa.2, ss.324-337, 2021 (SCI-Expanded)
2020
2020Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency
Ghosh S., Bal S. K., Edwards E. S., Pillay B., Heredia R. J., Cipe F. E., et al.
Blood
, cilt.136, sa.23, ss.2638-2655, 2020 (SCI-Expanded)
2020
2020Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family
Gun Bilgic D., Gerik Celebi H. B., Aydin Gumus A., Bilgic A., YAZICI H., CEYLANER S., et al.
Journal of Clinical Neuroscience
, cilt.82, ss.214-218, 2020 (SCI-Expanded)
2020
2020Mild lamellar ichthyosis with a truncated homozygous TGM1 mutation in a pediatric patient from Turkey
İmren I. G., Tanacan E., CEYLANER S., Sumer G., Eksioglu M.
Dermatologic Therapy
, cilt.33, sa.6, 2020 (SCI-Expanded)
2020
2020Aceruloplasminemia Presenting with Asymmetric Chorea Due to a Novel Frameshift Mutation
Aydemir S. T., BULUT O., CEYLANER S., AKBOSTANCI M. C.
Movement Disorders Clinical Practice
, cilt.7, sa.S3, 2020 (SCI-Expanded)
2020
2020A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in CYP17A1 gene
Unal E., Yıldırım R., Taş F. F., Tekin S., CEYLANER S., Haspolat Y. K.
Gynecological Endocrinology
, cilt.36, sa.8, ss.739-742, 2020 (SCI-Expanded)
2020
2020A novel mutation which causes a frameshift in the PHOX2B gene causes Haddad syndrome
Guzoglu N., Aslan M. K., Gunay Y. D., Atasoy P., CEYLANER S., Aliefendioglu D.
Clinical Dysmorphology
, cilt.29, ss.152-154, 2020 (SCI-Expanded)
2020
2020Clinical, immunological features and follow up of 20 patients with dedicator of cytokinesis 8 (DOCK8) deficiency
Haskologlu S., Kostel Bal S., Islamoglu C., Aytekin C., Guner S., Sevinc S., et al.
Pediatric Allergy and Immunology
, cilt.31, sa.5, ss.515-527, 2020 (SCI-Expanded)
2020
2020Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome
Dagdeviren Cakir A., Saidov S., Turan H., CEYLANER S., Özer Y., KUTLU H. T., et al.
Molecular Syndromology
, cilt.11, sa.2, ss.90-96, 2020 (SCI-Expanded)
2020
2020A Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due to TBX19 Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature
Kardelen Al A. D., Poyrazoǧlu Ş., Aslanger A., YEŞİL SAYIN G., CEYLANER S., BAŞ F., et al.
Hormone Research in Paediatrics
, cilt.92, sa.6, ss.395-403, 2020 (SCI-Expanded)
2020
2020Early-onset progressive encephalopathy associated with NAXE gene variants: a case report of a Turkish child
İNCECİK F., CEYLANER S.
Acta Neurologica Belgica
, cilt.120, sa.3, ss.733-735, 2020 (SCI-Expanded)
2020
2020Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe
YILDIZ Y., Arslan M., Çelik G., Kasapkara Ç. S., CEYLANER S., DURSUN A., et al.
American Journal of Medical Genetics, Part A
, cilt.182, sa.4, ss.705-712, 2020 (SCI-Expanded)
2020
2020Hypokalemia and hearing loss in a 3-year-old boy: Questions
Aksoy O. Y., Cayci F. S., CEYLANER S., Tokgoz S. A., Kaplan G., Bayrakci U. S.
Pediatric Nephrology
, cilt.35, sa.4, ss.615, 2020 (SCI-Expanded)
2020
2020Cardiac Tamponade in Gorham-Stout Syndrome Associated with GATA2 Mutation
Oguz M. M., OĞUZ B., Dogan V., Aydin B., Eyuboglu T. S., Yesil S., et al.
Indian Journal of Pediatrics
, cilt.87, sa.3, ss.239-240, 2020 (SCI-Expanded)
2020
2020First observation of hemoglobin G-Norfolk in the Turkish population
Ünal H., Atay A., Yücel M., Narin F., CEYLANER S., Canatan D.
Turkish Journal of Biochemistry
, cilt.46, sa.1, ss.95-100, 2020 (SCI-Expanded)
2020
2020Ectopic posterior pituitary, polydactyly, midfacial hypoplasia and multiple pituitary hormone deficiency due to a novel heterozygous IVS11-2A>C(c.1957-2A>C) mutation in the GLI2 gene
Demiral M., DEMİRBİLEK H., Unal E., Durmaz C. D., CEYLANER S., Özbek M. N.
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.12, sa.3, ss.319-328, 2020 (SCI-Expanded)
2020
2020A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation
Olgac A., Öztoprak Ü., Kasapkara Ç. S., Klllç M., Yüksel D., Derinkuyu E. B., et al.
Journal of Pediatric Endocrinology and Metabolism
, cilt.33, sa.1, ss.165-170, 2020 (SCI-Expanded)
2020
2020Importance of dna sequencing for abnormal hemoglobins detected by hplc screening Hplc ile tanımlanan anormal hemoglobinler için dna dizilemenin önemi
Canatan D., Çim A., Delibaş S., Altunsoy E., CEYLANER S.
Turkish Journal of Hematology
, cilt.37, sa.2, ss.134-135, 2020 (SCI-Expanded)
2020
2020A novel mutation in the GP1BA gene in Bernard-Soulier syndrome
ÖZDEMİR Z. C., Düzenli Kar Y., CEYLANER S., BÖR Ö.
Blood Coagulation and Fibrinolysis
, cilt.31, sa.1, ss.83-86, 2020 (SCI-Expanded)
2020
2020Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13
Köse M. D., Kagnici M., Özdemir T. R., Erdur C. B., Erdemir G., Karakoyun M., et al.
Journal of Pediatric Endocrinology and Metabolism
, cilt.33, sa.1, ss.157-163, 2020 (SCI-Expanded)
2020
2020Clinical features and outcomes of 23 patients with wiskottaldrich syndrome: A single-center experience Wiskott-aldrich sendromlu 23 hastanın klinik özellikleri ve sonuçları: Tek merkez deneyimi
Haskoloğlu Ş., Öztürk A., Öztürk G., Bal S. K., İslamoğlu C., Baskın K., et al.
Turkish Journal of Hematology
, cilt.37, sa.4, ss.271-281, 2020 (SCI-Expanded)
2019
2019The prevalence of fabry disease among turkish patients with non-obstructive hypertrophic cardiomyopathy: Insights from a screening study
BARMAN H. A., İKİTİMUR B., Avcı B. K., DURMAZ E., Atıcı A., Aslan S., et al.
Balkan Medical Journal
, cilt.36, sa.6, ss.354-358, 2019 (SCI-Expanded)
2019
2019Analysis of TP53 gene in uterine myomas: No mutations but P72R polymorphism is associated with myoma development
Altinkaya S. O., Avcioglu S. N., Sezer S. D., CEYLANER S.
Journal of Obstetrics and Gynaecology Research
, cilt.45, sa.10, ss.2088-2094, 2019 (SCI-Expanded)
2019
2019Clinical, Histochemical, and Molecular Study of Three Turkish Siblings Diagnosed with H Syndrome, and Literature Review
ŞİMŞEK E., ŞİMŞEK T., Eren M., YILMAZ E., ARIK D., ÇİLİNGİR O., et al.
Hormone Research in Paediatrics
, cilt.91, sa.5, ss.346-355, 2019 (SCI-Expanded)
2019
2019A novel homozygous cyp19a1 gene mutation: Aromatase deficiency mimicking congenital adrenal hyperplasia in an infant without obvious maternal virilisation
Dursun F., CEYLANER S.
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.11, sa.2, ss.196-201, 2019 (SCI-Expanded)
2019
2019Novel mutation in MASP1 gene in a new family with 3MC syndrome
Basdemirci M., Sen A., CEYLANER S.
Clinical Dysmorphology
, cilt.28, sa.2, ss.91-93, 2019 (SCI-Expanded)
2019
2019Association of vitamin D receptor gene polymorphisms with osteosarcoma risk and prognosis
KURUCU N., Şahin G., Sarı N., CEYLANER S., İlhan İ. E.
Journal of Bone Oncology
, cilt.14, 2019 (SCI-Expanded)
2019
2019A Very Rare Etiology of Hypotonia and Seizures: Congenital Glutamine Synthetase Deficiency
Ünal O., CEYLANER S., Akln R.
Neuropediatrics
, cilt.50, sa.1, ss.51-53, 2019 (SCI-Expanded)
2019
2019Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis
Değerliyurt A., Gündüz M., CEYLANER S., Ünal Ö., Ünal S.
Turkish Journal of Pediatrics
, cilt.61, sa.2, ss.261-266, 2019 (SCI-Expanded)
2019
2019Clinical features of 27 Turkish propionic acidemia patients with 12 novel mutations
KOR D., Şeker-Yılmaz B., Bulut F. D., Kılavuz S., Öktem M., CEYLANER S., et al.
Turkish Journal of Pediatrics
, cilt.61, sa.3, ss.330-336, 2019 (SCI-Expanded)
2019
2019Ataxia, tremor, intellectual disability: A case of STXBP1 encephalopathy with a new mutation
Değerliyurt A., Kesen G. G., CEYLANER S.
Turkish Journal of Pediatrics
, cilt.61, sa.5, ss.757-759, 2019 (SCI-Expanded)
2018
2018Nonketotic hyperglycinemia: Clinical range and outcome of a rare neurometabolic disease in a single-center
Genç Sel Ç., Kılıç M., Yüksel D., Aksoy A., Kasapkara Ç. S., CEYLANER S., et al.
Brain and Development
, cilt.40, sa.10, ss.865-875, 2018 (SCI-Expanded)
2018
2018A rare mutation in the EPG5 gene causes Vici syndrome
Demiral E., Sen A., Esener Z., CEYLANER S., TEKEDERELİ İ.
Clinical Dysmorphology
, cilt.27, sa.4, ss.145-147, 2018 (SCI-Expanded)
2018
2018Arare cause of fever of unknown origin: Hypohidrotic ectodermal dysplasia with a splice site mutation
Oguz M. M., Akcaboy M., Gurkan A., Acoglu E. A., Zorlu P., CEYLANER S., et al.
Minerva Pediatrica
, cilt.70, sa.5, ss.493-495, 2018 (SCI-Expanded)
2018
2018Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia
Yucel H., Kasapkara Ç. S., Akcaboy M., Aksoy E., Sahin G. E., Derinkuyu B. E., et al.
Metabolic Brain Disease
, cilt.33, sa.5, ss.1775-1778, 2018 (SCI-Expanded)
2018
2018Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey
BULUT F. D., KOR D., Şeker-Yılmaz B., Hergüner Ö., CEYLANER S., Özkınay F., et al.
Metabolic Brain Disease
, cilt.33, sa.4, ss.1223-1227, 2018 (SCI-Expanded)
2018
2018Identification of a new de novo mutation underlying regressive episodic ataxia type I
Karalok Z. S., Megaro A., Cenciarini M., Guven A., Hasan S. M., Taskin B. D., et al.
Frontiers in Neurology
, cilt.9, sa.JUL, 2018 (SCI-Expanded)
2018
2018Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: A report of 203 patients from the southeastern part of Turkey
Yilmaz B. S., Mungan N. O., Kor D., Bulut D., Seydaoglu G., Öktem M., et al.
Journal of Pediatric Endocrinology and Metabolism
, cilt.31, sa.3, ss.339-343, 2018 (SCI-Expanded)
2018
2018A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and precocious puberty
Ozsu E., Sen A., CEYLANER S.
Journal of Pediatric Endocrinology and Metabolism
, cilt.31, sa.1, ss.95-99, 2018 (SCI-Expanded)
2017
2017A mutation in INSR in a child presenting with severe acanthosis nigricans
Tuhan H., CEYLANER S., Nalbantoğlu Ö., Acar S., ABACI A., BÖBER E., et al.
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.9, sa.4, ss.371-374, 2017 (SCI-Expanded)
2017
2017Early-onset severe obesity due to complete deletion of the leptin gene in a boy
Ozsu E., CEYLANER S., Onay H.
Journal of Pediatric Endocrinology and Metabolism
, cilt.30, sa.11, ss.1227-1230, 2017 (SCI-Expanded)
2017
2017A novel genetic mutation in a Turkish family with GCK-MODY
Ahmet Ucakturk S., Gunindi F., CEYLANER S., Mengen E., Elmaogulları S., YÜKSEL B.
International Journal of Diabetes in Developing Countries
, cilt.37, sa.3, ss.323-326, 2017 (SCI-Expanded)
2017
2017Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation
Muratoǧlu Sahin N., Bilici M. E., Kurnaz E., Pala Akdoǧan M., CEYLANER S., AYCAN Z.
Journal of Pediatric Endocrinology and Metabolism
, cilt.30, sa.8, ss.889-892, 2017 (SCI-Expanded)
2017
2017Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose
KOR D., Yilmaz B. Ş., BULUT F. D., CEYLANER S., Mungan N. Ö.
Journal of Pediatric Endocrinology and Metabolism
, cilt.30, sa.7, ss.713-718, 2017 (SCI-Expanded)
2017
2017Congenital Glucose–Galactose Malabsorption in a Turkish Newborn: A Novel Mutation of Na+/Glucose Cotransporter Gene
Atay F. Y., Derme T., Uras N., CEYLANER G., CEYLANER S., Sari F. N., et al.
Digestive Diseases and Sciences
, cilt.62, sa.1, ss.280-281, 2017 (SCI-Expanded)
2016
2016A case of vitamin d-dependent rickets type 1a with a novel mutation in the uzbek population
Özcabı B., Bucak F. T., Jaferova S., Oruç Ç., Adrovic A., CEYLANER S., et al.
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.8, sa.4, ss.484-489, 2016 (SCI-Expanded)
2016
2016Crouzonodermoskeletal syndrome with hypoplasia of corpus callosum and inferior vermis
Gürbüz F., CEYLANER S., TOPALOĞLU A. K., YÜKSEL B.
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.8, sa.3, ss.373-374, 2016 (SCI-Expanded)
2016
2016Excellent response to deep brain stimulation in a young girl with GNAO1-related progressive choreoathetosis
YILMAZ SÜSLÜER S., Turhan T., CEYLANER S., GÖKBEN S., TEKGÜL H., Serdaroglu G.
Child's Nervous System
, cilt.32, sa.9, ss.1567-1568, 2016 (SCI-Expanded)
2016
2016Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia
Ural U. M., CEYLANER S.
Taiwanese Journal of Obstetrics and Gynecology
, cilt.55, sa.4, ss.613-615, 2016 (SCI-Expanded)
2016
2016Cystinosis in Eastern Turkey
Doǧan M., Bulan K., Kaba S., Cesur Y., CEYLANER S., Ustyol L.
Journal of Pediatric Endocrinology and Metabolism
, cilt.29, sa.8, ss.965-969, 2016 (SCI-Expanded)
2016
2016Sertoli cell only syndrome with ambiguous genitalia
Gurbuz F., CEYLANER S., ERDOĞAN Ş., TOPALOĞLU A. K., YÜKSEL B.
Journal of Pediatric Endocrinology and Metabolism
, cilt.29, sa.7, ss.849-852, 2016 (SCI-Expanded)
2016
2016Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation
Taskin B. D., Karalok Z. S., Gurkas E., Aydin K., Aydogmus U., CEYLANER S., et al.
Journal of Child Neurology
, cilt.31, sa.7, ss.938-941, 2016 (SCI-Expanded)
2016
2016Maturity onset diabetes of youth (MODY) in Turkish children: Sequence analysis of 11 causative genes by next generation sequencing
Aǧladioǧlu S. Y., AYCAN Z., Çetinkaya S., Baş V. N., Önder A., Peltek Kendirci H. N., et al.
Journal of Pediatric Endocrinology and Metabolism
, cilt.29, sa.4, ss.487-496, 2016 (SCI-Expanded)
2016
2016Combination of two different homozygote mutations in Pompe disease
Arslan A., Poyrazoʇlu H. G., Kiraz A., ÖZCAN A., Işik H., Ergul A. B., et al.
Pediatrics International
, cilt.58, sa.3, ss.241-243, 2016 (SCI-Expanded)
2016
2016Coexistence of kabuki syndrome and autoimmune thyroiditis
Gürbüz F., Yüreğir Ö. Ö., CEYLANER S., TOPALOĞLU A. K., YÜKSEL B.
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.8, sa.1, ss.105-106, 2016 (SCI-Expanded)
2016
2016Brown-Vialetto-Van Laere syndrome: Two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin
Horoz O. O., Mungan N. O., Yildizdas D., Hergüner Ö., CEYLANER S., KOR D., et al.
Journal of Pediatric Endocrinology and Metabolism
, cilt.29, sa.2, ss.227-231, 2016 (SCI-Expanded)
2016
2016KEPT in mind infantile neuroaxonal dystrophy
Karalok Z., Taskin B., Aydogmus U., CEYLANER S., Karaer K., Yilmaz C.
Genetic Counseling
, cilt.27, sa.2, ss.279-282, 2016 (SCI-Expanded)
2016
2016Vici syndrome in siblings born to consanguineous parents
Tasdemir S., ŞAHİN İ., Cayir A., Yuce I., CEYLANER S., TATAR A.
American Journal of Medical Genetics, Part A
, cilt.170, sa.1, ss.220-225, 2016 (SCI-Expanded)
2015
2015Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing
Anlk A., Cątll G., Abacl A., Sarl E., Yeşilkaya E., Korkmaz H. A., et al.
Journal of Pediatric Endocrinology and Metabolism
, cilt.28, sa.11-12, ss.1265-1271, 2015 (SCI-Expanded)
2015
2015Mitochondrial Membrane Protein-Associated Neurodegeneration
YILMAZ SÜSLÜER S., GÖKBEN S., CEYLANER S.
Pediatric Neurology
, cilt.53, sa.4, ss.373-374, 2015 (SCI-Expanded)
2015
2015Primary systemic carnitine deficiency: A Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up
Yilmaz B. S., KOR D., Mungan N. O., Erdem S., CEYLANER S.
Journal of Pediatric Endocrinology and Metabolism
, cilt.28, sa.9-10, ss.1179-1181, 2015 (SCI-Expanded)
2015
2015Testotoxicosis: Report of two cases, one with a novel mutation in LHCGR gene
Özcabı B., Bucak F. T., CEYLANER S., ÖZCAN R., Büyükünal C., ERCAN O., et al.
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.7, sa.3, ss.242-248, 2015 (SCI-Expanded)
2015
2015A rare cause of fatal pulmonary alveolar proteinosis: Niemann-Pick disease type C2 and a novel mutation
Yaman A., Eminoʇlu F. T., KENDİRLİ T., Ödek Ç., CEYLANER S., KANSU TANCA A., et al.
Journal of Pediatric Endocrinology and Metabolism
, cilt.28, sa.9-10, ss.1163-1167, 2015 (SCI-Expanded)
2015
2015Giant axonal disease: Report of eight cases
İNCECİK F., Herguner O. M., CEYLANER S., ZORLUDEMİR S., ALTUNBAŞAK Ş.
Brain and Development
, cilt.37, sa.8, ss.803-807, 2015 (SCI-Expanded)
2015
2015Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature
Mert G. G., İNCECİK F., Özlem Hergüner M., CEYLANER S., ALTUNBAŞAK Ş.
Turkish Journal of Pediatrics
, cilt.57, sa.4, ss.394-397, 2015 (SCI-Expanded)
2015
2015Two Novel Missense Mutations in Nonketotic Hyperglycinemia
Yilmaz B. S., KOR D., CEYLANER S., Mert G. G., İNCECİK F., Kartal E., et al.
Journal of Child Neurology
, cilt.30, sa.6, ss.789-792, 2015 (SCI-Expanded)
2015
2015Three cases of Wolfram syndrome with different clinical aspects
Çamtosun E., ŞIKLAR Z., Kocaay P., CEYLANER S., Flanagan S. E., Ellard S., et al.
Journal of Pediatric Endocrinology and Metabolism
, cilt.28, sa.3-4, ss.433-438, 2015 (SCI-Expanded)
2015
2015Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Romani M., Mancini F., Micalizzi A., Poretti A., Miccinilli E., Accorsi P., et al.
Human Genetics
, cilt.134, sa.1, ss.123-126, 2015 (SCI-Expanded)
2015
2015A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings
Tos T., Alp M., Aksoy A., CEYLANER S., Uer A.
Genetic Counseling
, cilt.26, sa.1, ss.47-52, 2015 (SCI-Expanded)
2015
2015Turkish cases of early infantile epileptic encephalopathy: Two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene
GÖKBEN S., Serdaroğlu G., Yılmaz S., Bienvenu T., CEYLANER S.
Turkish Journal of Pediatrics
, cilt.57, sa.3, ss.272-276, 2015 (SCI-Expanded)
2015
2015Reversible clinical and magnetic resonance imaging findings in late-onset cobalamin C defect
Gurkas E., Kartal A., Aydin K., Kucukçongar A., Dilber C., CEYLANER S.
Genetic Counseling
, cilt.26, sa.4, ss.425-430, 2015 (SCI-Expanded)
2015
2015Unilateral ectrodactyly in a newborn with trisomy 18 syndrome: An unusual association
Kislal F. M., Altuntas N., Ozdemir O., CEYLANER S., Kislal M. H., Andiran N.
Journal of the College of Physicians and Surgeons Pakistan
, cilt.25, sa.8, ss.619-620, 2015 (SCI-Expanded)
2015
2015Citrin deficiency: An infant incidentally detected by phenylketonuria screening with a novel mutation in SLC25A 13 gene
AKTUĞLU ZEYBEK A. Ç., KIYKIM E., ZÜBARİOĞLU T., CANSEVER M. Ş., CEYLANER S., Erkan T.
Genetic Counseling
, cilt.26, sa.4, ss.409-413, 2015 (SCI-Expanded)
2015
2015Single median maxillary central incisor syndrome and its clinical importance
Aydemr H., Aydemr S., BEZGİN T., CEYLANER S., Senel S.
Genetic Counseling
, cilt.25, sa.4, ss.453-455, 2015 (SCI-Expanded)
2014
2014Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene
Gündüz M., Ekici F., Özaydın E., CEYLANER S., Perez B.
European Journal of Pediatrics
, cilt.173, sa.12, ss.1707-1710, 2014 (SCI-Expanded)
2014
2014X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptoms
İNCECİK F., HERGÜNER M., Mert G., Önenli-Mungan N., CEYLANER S., KOR D., et al.
Turkish Journal of Pediatrics
, cilt.56, sa.6, ss.651-653, 2014 (SCI-Expanded)
2014
2014A novel missense mutation in HSD17B3 gene in a 46, XY adolescent presenting with primary amenorrhea and virilization at puberty
Tuhan H. U., Anik A., Catli G., CEYLANER S., Dundar B., BÖBER E., et al.
Clinica Chimica Acta
, cilt.438, ss.154-156, 2014 (SCI-Expanded)
2014
2014Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion
Zamani A. G., Acar A., Durakbasi-Dursun G., Yildirim M. S., CEYLANER S., Tuncez E.
American Journal of Medical Genetics, Part A
, cilt.164, sa.5, ss.1239-1244, 2014 (SCI-Expanded)
2014
2014Chronic lymphocytic leukemia in a child: A challenging diagnosis in pediatric oncology practice
Demir H. A., Bayhan T., ÜNER A., KURTULAN O., Karakuş E., Emir S., et al.
Pediatric Blood and Cancer
, cilt.61, sa.5, ss.933-935, 2014 (SCI-Expanded)
2014
2014A novel heterozygous mutation in steroidogenic factor-1 in pubertal virilization of a 46,XY female adolescent
ŞIKLAR Z., BERBEROĞLU M., CEYLANER S., Çamtosun E., Kocaay P., GÖLLÜ BAHADIR G., et al.
Journal of Pediatric and Adolescent Gynecology
, cilt.27, sa.2, ss.98-101, 2014 (SCI-Expanded)
2014
2014Cytokine concentrations in pediatric patients with Crimean-Congo hemorrhagic fever
TEZER H., Ozkaya-Parlakay A., Kizilgün M., Kaya A., Gulhan B., Yüksek S. K., et al.
Pediatric Infectious Disease Journal
, cilt.33, sa.11, ss.1185-1187, 2014 (SCI-Expanded)
2013
2013Are low maternal estriol levels a predictor for pro-opiomelanocortin (POMC) deficiency caused by POMC mutation during pregnancy?
Aldemir O., ÖZEN S., Sanlialp C., CEYLANER S.
Prenatal Diagnosis
, cilt.33, sa.13, ss.1297-1298, 2013 (SCI-Expanded)
2013
2013Prenatal diagnosis of goldenhar syndrome with unusual features by 3D ultrasonography
Guzelmansur I., CEYLANER G., CEYLANER S., CEYLAN N., Daplan T.
Genetic Counseling
, cilt.24, sa.3, ss.319-325, 2013 (SCI-Expanded)
2013
2013Acromesomelic dysplasia with cardiac and neurologic abnormalities: An association by chance, new features of Maroteaux type or a new syndrome?
Kurt F., CEYLANER S., Yakut H.
Genetic Counseling
, cilt.24, sa.1, ss.75-80, 2013 (SCI-Expanded)
2013
2013Primary adrenal insufficiency caused by a novel mutation in DAX1 gene
EVLİYAOĞLU S. O., Dokurel I., Bucak F., Özcabi B., ERCAN O., CEYLANER S.
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.5, sa.1, ss.55-57, 2013 (SCI-Expanded)
2013
2013Nephron-sparing surgery for renal cell carcinoma of the allograft after renal transplantation: Report of two cases
TÜZÜNER A., Çakir F., AKYOL C., Çelebi Z., CEYLANER S., CEYLANER G., et al.
Transplantation Proceedings
, cilt.45, sa.3, ss.958-960, 2013 (SCI-Expanded)
2013
2013Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders
Travaglini L., Brancati F., Silhavy J., Iannicelli M., Nickerson E., Elkhartoufi N., et al.
European Journal of Human Genetics
, cilt.21, sa.10, ss.1074-1078, 2013 (SCI-Expanded)
2012
2012Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome
Hakan N., Eminoglu F. T., Aydin M., Zenciroglu A., Karadag N. N., Dursun A., et al.
Congenital Anomalies
, cilt.52, sa.4, ss.216-218, 2012 (SCI-Expanded)
2012
2012A 7q11.23 microduplication patient with cerebral palsy and facial dysmorphism
Deǧerliyurt A., CEYLANER S., ÖZDAĞ SEVGİLİ H.
Genetic Counseling
, cilt.23, sa.2, ss.263-267, 2012 (SCI-Expanded)
2012
2012A new family with autosomal dominant porencephaly with a novel COL4A1 mutation. Are arachnoid cysts related to COL4A1 mutations?
Deǧerliyurt A., CEYLANER G., Koçak H., Bilginer Gürbüz B., Cihan B., Rizzu P., et al.
Genetic Counseling
, cilt.23, sa.2, ss.185-193, 2012 (SCI-Expanded)
2012
2012Hydranencephaly, pituitary hypoplasia, and anophthalmia in a male infant
Köstü M., Tuncer O., CEYLANER S., Çaksen H.
Clinical Dysmorphology
, cilt.21, sa.3, ss.155-156, 2012 (SCI-Expanded)
2012
2012High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey
Kalb S., ÇAĞLAYAN A. O., Degerliyurt A., Schmid S., CEYLANER S., HATİPOĞLU N., et al.
Clinical Genetics
, cilt.81, sa.6, ss.598-601, 2012 (SCI-Expanded)
2012
2012The earlier described mutation (c.307C> T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype
ŞİMŞEK E., Binay C., CEYLANER S.
Journal of Pediatric Endocrinology and Metabolism
, cilt.25, sa.5-6, ss.543-545, 2012 (SCI-Expanded)
2012
2012Genetic evaluation of severe male factor infertility in Turkey: A cross-sectional study
Cavkaytar S., Batioglu S., Gunel M., CEYLANER S., KARAER A.
Human Fertility
, cilt.15, sa.2, ss.100-106, 2012 (SCI-Expanded)
2011
2011Ovulation induction with gonadotropins causes increased sister chromatid exchanges
Tonguç E., CEYLANER G., Var T., Zülfikaroǧlu E., CEYLANER S.
Genetic Counseling
, cilt.22, sa.2, ss.193-198, 2011 (SCI-Expanded)
2011
2011A new variant of a known mutation in two siblings with permanent neonatal diabetes mellitus
AYCAN Z., Çetinkaya S., Oǧuz Ş. S., CEYLANER S.
Journal of Pediatric Endocrinology and Metabolism
, cilt.24, sa.5-6, ss.373-375, 2011 (SCI-Expanded)
2011
2011Coexistence of borderline ovarian epithelial tumor, primary pelvic hydatid cyst, and lymphoepithelioma-like gastric carcinoma
Gungor T., Altinkaya S. O., Sirvan L., Lafuente R. A., CEYLANER S.
Taiwanese Journal of Obstetrics and Gynecology
, cilt.50, sa.2, ss.201-204, 2011 (SCI-Expanded)
2011
2011A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome
Senel S., CEYLANER S., CEYLANER G., Hanli Sahin A., Andrieux J., Delaunoy J.
Genetic Counseling
, cilt.22, sa.1, ss.21-24, 2011 (SCI-Expanded)
2011
2011Vascular endothelial growth factor +405 C/G polymorphism is highly associated with an increased risk of endometriosis in Turkish women
Altinkaya S. O., Ugur M., CEYLANER G., Ozat M., Gungor T., CEYLANER S.
Archives of Gynecology and Obstetrics
, cilt.283, sa.2, ss.267-272, 2011 (SCI-Expanded)
2011
2011An uncommon complementary isochromosome of 46,XY, i(9)(p10),i(9)(q10) in an infertile oligoasthenoteratozoospermic man
Guvendag Guven E. S., Dilbaz S., CEYLANER S., Acar H., Cinar O., Ozdegirmenci O., et al.
Fertility and Sterility
, cilt.95, sa.1, 2011 (SCI-Expanded)
2010
2010Sporadic nonautoimmune neonatal hyperthyroidism due to A623V germline mutation in the thyrotropin receptor gene
AYCAN Z., Aǧladioǧlu S. Y., CEYLANER S., Çetinkaya S., Baş V. N., Kendirci H. N. P.
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.2, sa.4, ss.168-172, 2010 (SCI-Expanded)
2010
2010A case of lower mesodermal defects sequence
Tos T., Aktas S., Ikbal M., Avci M., Senel S., CEYLANER S.
Genetic Counseling
, cilt.21, sa.4, ss.381-384, 2010 (SCI-Expanded)
2010
2010A case of otocephaly with anencephaly and meningomyelocele
Tos T., CEYLANER S., Senel S., Aktas S., Alp Y.
Genetic Counseling
, cilt.21, sa.3, ss.325-328, 2010 (SCI-Expanded)
2010
2010Carmi syndrome with congenital heart defects
Aydin M., Zenciroglu A., Yaman A., Orun U. A., Arda N., Colak A. G., et al.
American Journal of Medical Genetics, Part A
, cilt.152, sa.8, ss.2120-2122, 2010 (SCI-Expanded)
2010
2010Lumbocostovertebral syndrome in an infant of a diabetic mother
Okumus N., Bas A. Y., Demirel N., Zenciroglu A., Surmeli S., CEYLANER S.
American Journal of Medical Genetics, Part A
, cilt.152, sa.6, ss.1374-1377, 2010 (SCI-Expanded)
2010
2010Partial trisomy due to a de novo duplication 22q11.1-22q13.1: A cat-eye syndrome variant with brain anomalies
Karcaaltincaba D., CEYLANER S., CEYLANER G., Dalkilic S., Karli-Oguz K., Kandemr O.
Genetic Counseling
, cilt.21, sa.1, ss.19-24, 2010 (SCI-Expanded)
2010
2010Mutations in SLC29a3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease
Morgan N. V., Morris M. R., Cangul H., Gleeson D., Straatman-Iwanowska A., Davies N., et al.
PLoS Genetics
, cilt.6, sa.2, 2010 (SCI-Expanded)
2010
2010Genetic abnormalities in Turkish women with premature ovarian failure
CEYLANER G., Altinkaya S. O., Mollamahmutoglu L., CEYLANER S.
International Journal of Gynecology and Obstetrics
, cilt.110, sa.2, ss.122-124, 2010 (SCI-Expanded)
2009
2009Multiple pterygium syndrome: A case report, comparison with fetal akinesia sequence and pterygium syndrome Multiple pterygium sendromu: Olgu sunumu, fetal akinezi sekansi ve pterygium sendromu ile karşilaştirilmasi
Kişlal F. M., Pinar R., CEYLANER S., Dilmen U., Cörüt N.
Guncel Pediatri
, cilt.7, sa.2, ss.101-103, 2009 (SCI-Expanded)
2009
2009A Feingold syndrome case with previously undescribed features and a new mutation
Koçak H., Özaydin E., Köse G., Marcelis C., Kamsteeg E., CEYLANER S.
Genetic Counseling
, cilt.20, sa.3, ss.261-267, 2009 (SCI-Expanded)
2009
2009Prenatal diagnosis of a case with anencephaly-omphalocele-unilateral absent radial ray
CEYLANER S., CEYLANER G., Altun M., Coşkun A., Danişman N.
Genetic Counseling
, cilt.20, sa.2, ss.189-193, 2009 (SCI-Expanded)
2009
2009Prenatal diagnosis of a case probably with oral-facial-digital syndrome - Gabrielli type
Güven M., CEYLANER G., CEYLANER S., ÜZEL M., Coskun A.
Genetic Counseling
, cilt.20, sa.2, ss.167-172, 2009 (SCI-Expanded)
2009
2009A boy with trisomy 13 presenting with a subtle clinical picture and metopic synostosis
ÜNAL S., Celik F. C., Soy D., CEYLANER S., Ceylaner G.
American Journal of Medical Genetics, Part A
, cilt.149, sa.7, ss.1608-1609, 2009 (SCI-Expanded)
2009
2009Hypomelanosis of Ito and Sturge-Weber Syndrome Without Facial Nevus: An Association or a New Syndrome?
Deǧerliyurt A., Kantar A., CEYLANER S., Aysun S.
Pediatric Neurology
, cilt.40, sa.5, ss.395-397, 2009 (SCI-Expanded)
2009
2009Results of ICSI in severe oligozoospermic and azoospermic patients with AZF microdeletions
Kilic S., Yuksel B., Yilmaz N., Ozdemir E., Ozturk U., CEYLANER S., et al.
Iranian Journal of Reproductive Medicine
, cilt.7, sa.2, ss.79-84, 2009 (SCI-Expanded)
2008
2008A prenatally diagnosed case of sirenomelia with polydactyly and vestigial tail
Guven M., ÜZEL M., CEYLANER S., Coskun A., CEYLANER G., Gungoren A.
Genetic Counseling
, cilt.19, sa.4, ss.419-424, 2008 (SCI-Expanded)
2008
2008Goldenhar syndrome associated with growth hormone deficiency
Yusufoǧlu A., Çetinkaya E., CEYLANER S., AYCAN Z., Kibar E., Ekici F., et al.
Genetic Counseling
, cilt.19, sa.2, ss.173-176, 2008 (SCI-Expanded)
2008
2008Apparent Lenz microphthalmia syndrome: A patient with unusual manifestations
Okumus N., Zenciroglu A., Demrel N., Bas A., CEYLANER S.
Genetic Counseling
, cilt.19, sa.2, ss.177-182, 2008 (SCI-Expanded)
2008
2008GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals
Baysal E., Bayazit Y., CEYLANER S., Alatas N., Donmez B., CEYLANER G., et al.
Journal of Genetics
, cilt.87, sa.1, ss.53-57, 2008 (SCI-Expanded)
2008
2008Y chromosome azoospermia factor region microdeletions and recurrent pregnancy loss
Karaer A., Karaer K., Ozaksit G., CEYLANER S., PERÇİN F. E.
American Journal of Obstetrics and Gynecology
, cilt.199, sa.6, 2008 (SCI-Expanded)
2008
2008Autosomal dominant inheritance of congenital dislocation of the hip in 16 members of a family Bir ailenin 16 üyesinde otozomal dominant kalıtım gösteren gelişimsel kalça çıkıǧı
CEYLANER G., CEYLANER S., Ustunkan F., Inan M.
Acta Orthopaedica et Traumatologica Turcica
, cilt.42, sa.4, ss.289-291, 2008 (SCI-Expanded)
2007
2007Chromosomal heteromorphisms may help for the diagnosis of uniparental disomy (UPD): A case report
CEYLANER G., CEYLANER S., Danişman N., Ergün A., Ekici E., Schinzel A., et al.
Prenatal Diagnosis
, cilt.27, sa.11, ss.1072-1074, 2007 (SCI-Expanded)
2007
2007Neu-Laxova syndrome, grossly appearing normal on 20 weeks ultrasonographic scan, that manifested late in pregnancy: A case report
Kahyaoglu S., Turgay I., Ertas I. E., CEYLANER S., Danisman N.
Archives of Gynecology and Obstetrics
, cilt.276, sa.4, ss.367-370, 2007 (SCI-Expanded)
2007
2007Evaluation of 2407 fetuses in a Turkish population
CEYLANER G., CEYLANER S., Günyeli I., Ekici E., Celasun B., Danişman N.
Prenatal Diagnosis
, cilt.27, sa.9, ss.800-807, 2007 (SCI-Expanded)
2007
2007Correspondence: Is it a Proteus syndrome? [3]
Senel S., Senel E., CEYLANER S.
Journal of Pediatric Orthopaedics Part B
, cilt.16, sa.5, ss.385, 2007 (SCI-Expanded)
2007
2007Proteus Syndrome in the aetiology of carpal tunnel syndrome
Senel S., Okumus N., CEYLANER S.
Acta Orthopaedica Belgica
, cilt.73, sa.4, ss.548, 2007 (SCI-Expanded)
2007
2007Prenatal diagnosis of a Turkish Bartsocas-Papas syndrome case with upper limb pterigia
CEYLANER G., Güven M. A., CEYLANER S., ÜZEL M., Müftüoǧlu K.
Prenatal Diagnosis
, cilt.27, sa.6, ss.563-565, 2007 (SCI-Expanded)
2006
2006Prenatal diagnosis of Meckel Gruber syndrome presenting with renal agenesis: report of a case.
Guven M., CEYLANER S., CEYLANER G., Gul D., Ertas L.
Genetic counseling (Geneva, Switzerland)
, cilt.17, sa.1, ss.65-68, 2006 (SCI-Expanded)
2006
2006Extremely skewed X-chromosome inactivation patterns in women with recurrent spontaneous abortion
Bagislar S., Ustuner I., Cengiz B., Soylemez F., Akyerli C. B., CEYLANER S., et al.
Australian and New Zealand Journal of Obstetrics and Gynaecology
, cilt.46, sa.5, ss.384-387, 2006 (SCI-Expanded)
2006
2006An infant with diaphragmatic hernia, anophthalmia and cardiac defect: Evaluation by magnetic resonance imaging autopsy
CEYLANER S., Gozer H., CEYLANER G., Ertas I., Kizilates S., Edguer T.
Genetic Counseling
, cilt.17, sa.2, ss.231-236, 2006 (SCI-Expanded)
2006
2006Prenatal and postnatal findings in a case with the autosomal recessive type of Robinow syndrome
Guven M. A., Batukan C., CEYLANER S., ÜZEL M., Ozbek A., Demirpolat G.
Fetal Diagnosis and Therapy
, cilt.21, sa.4, ss.386-389, 2006 (SCI-Expanded)
2006
2006Postmortem evaluation of 220 prenatally diagnosed fetuses with neural tube defects: Detection of associated anomalies in a Turkish population
CEYLANER S., CEYLANER G., Günyeli I., Ekici E., Tuǧ M., Taner D., et al.
Prenatal Diagnosis
, cilt.26, sa.2, ss.147-153, 2006 (SCI-Expanded)
2006
2006A case of fetal anticonvulsant syndrome with severe bilateral upper limb defect
Guven M. A., Batukan C., CEYLANER S., CEYLANER G., ÜZEL M.
Journal of Maternal-Fetal and Neonatal Medicine
, cilt.19, sa.2, ss.115-117, 2006 (SCI-Expanded)
2005
2005SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders
Kohlhase J., Chitayat D., Kotzot D., CEYLANER S., Froster U. G., Fuchs S., et al.
Human Mutation
, cilt.26, sa.3, ss.176-183, 2005 (SCI-Expanded)
2005
2005Craniosynostosis and ectopia lentis in a propositus whose parents are cousins [4]
Güven D., Kalayci D., Hasiripi H., CEYLANER S., CEYLANER G.
American Journal of Medical Genetics
, cilt.134 A, sa.2, ss.231, 2005 (SCI-Expanded)
2005
2005A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an ehlers-danlos VIA patient
Walker L. C., Overstreet M. A., Siddiqui A., De Paepe A., CEYLANER G., Malfait F., et al.
Journal of Investigative Dermatology
, cilt.124, sa.5, ss.914-918, 2005 (SCI-Expanded)
2004
2004Prenatal sonographic findings in a case of Varadi-Papp syndrome
Guven M. A., CEYLANER S., Prefumo F., ÜZEL M.
Prenatal Diagnosis
, cilt.24, sa.12, ss.989-991, 2004 (SCI-Expanded)
2004
2004Three new cases of disorganizationlike syndrome: One with accessory extrophia vesicalis
Ilkehan H., ÇOBAN Y. K., Guven M. A., CEYLANER S.
Journal of Pediatric Surgery
, cilt.39, sa.9, 2004 (SCI-Expanded)
2003
2003Empty follicle syndrome in two sisters with three cycles: Case report
Önalan G., Pabuçcu R., Önalan R., CEYLANER S., Selam B.
Human Reproduction
, cilt.18, sa.9, ss.1864-1867, 2003 (SCI-Expanded)
2002
2002Evaluation of segregation patterns of 21;21 Robertsonian translocation along with sex chromosomes and interchromosomal effects in sperm nuclei of carrier by FISH technique
Acar H., Yildirim M. S., Çora T., CEYLANER S.
Molecular Reproduction and Development
, cilt.63, sa.2, ss.232-236, 2002 (SCI-Expanded)
2001
2001Cutis laxa with growth and developmental delay [2]
Karakurt C., Sipahi T., CEYLANER S., Şenocak F., Karademir S., Becer M.
Clinical Pediatrics
, cilt.40, sa.7, ss.422-423, 2001 (SCI-Expanded)
1995
1995A large Turkish kindred with syndactyly type II (synpolydactyly). 1 Field investigation, clinical and pedigree data
Sayli B. S., Akarsu A. N., Sayli U., AKHAN O., CEYLANER S., Sarfarazi M.
Journal of Medical Genetics
, cilt.32, sa.6, ss.421-434, 1995 (SCI-Expanded)
Diğer Dergilerde Yayınlanan Makaleler
2025
2025Coexistence of a Leaky SCID Phenotype With Hyperphenylalaninemia in an Adult Case
Musabak U., Erdogan T., Akcay M. S., CEYLANER S.
Case Reports in Immunology
, cilt.2025, sa.1, 2025 (ESCI)
2023
2023Allojeneik Hematopoetik Kök Hücre Nakli Sonrası Aseptik Nekroz Gelişen Olgularda Vitamin D Reseptör Gen Polimorfizmi
SOYDAN E., ŞAHİN U., CEYLANER S., GÖKMEN A., DOĞAN H., OKCU M. K., et al.
Türkiye'de Lösemi Lenfoma Miyelom Araştırmaları
, cilt.7, sa.2, ss.51-56, 2023 (Hakemli Dergi)
2020
2020Further observation of Hemoglobin Fontainebleau (a21(B2) Ala-Pro) in a Turkish family
Akar N., CEYLANER S., Akisin Y. A., Tastan G. S.
Egyptian Journal of Medical Human Genetics
, cilt.21, sa.1, 2020 (ESCI)
2019
2019Prenatal Diagnosis of Osteogenesis Imperfecta Type III
Canda M. T., CEYLANER S., Doganay Caglayan L., Demir A. B., Demir N.
Journal of Obstetrics and Gynecology of India
, cilt.69, sa.4, ss.374-376, 2019 (ESCI)
2019
2019A rare case of prolidase deficiency with situs inversus totalis, identified by a novel mutation in the PEPD gene
Kiratli Nalbant E., Karaosmanoglu N., Kutlu O., CEYLANER S., Eksioglu H. M.
JAAD Case Reports
, cilt.5, sa.5, ss.436-438, 2019 (Scopus)
2019
2019When a common symptom of a neonate become an unusual diagnosis: A case report of HMG-CoA lyase deficiency with a novel mutation
Kasapkara C. S., Akar M., Ozbek M. N., Tuzun H., Akcaboy M., CEYLANER S.
Gazi Medical Journal
, cilt.30, sa.3, ss.298-299, 2019 (ESCI)
2019
2019A rare structural myopathy: Nemaline myopathy Nadir bir yapisal miyopati: Nemalin miyopatisi
Yeşilbaş O., Şevketoğlu E., Kihtir H. S., Ersoy M., Petmezci M. T., Akkuş C. H., et al.
Turk Pediatri Arsivi
, cilt.54, sa.1, ss.49-52, 2019 (ESCI)
2018
2018MaFOS-GDM trial: Maternal fish oil supplementation in women with gestational diabetes and cord blood DNA methylation at insulin like growth factor-1 (IGF-1) gene
Dilli D., Doğan N. N., İpek M. Ş., Çavuş Y., CEYLANER S., Doğan H., et al.
Clinical Nutrition ESPEN
, cilt.23, ss.73-78, 2018 (ESCI)
2016
2016Mitochondrial membrane protein-associated neurodegeneration in a Turkish patient
İNCECİK F., Hergüner O., Besen S., CEYLANER S.
Journal of Pediatric Neurosciences
, cilt.11, sa.3, ss.288-289, 2016 (ESCI)
2015
2015Merosin-negative congenital muscular dystrophy: Report of five cases
İNCECİK F., Herguner O. M., CEYLANER S., ALTUNBAŞAK Ş.
Journal of Pediatric Neurosciences
, cilt.10, sa.4, ss.346-349, 2015 (ESCI)
2014
2014Stimulus-induced myoclonus treated effectively with clonazepam in genetically confirmed Coffin-Lowry syndrome
Arslan E. A., CEYLANER S., Turanli G.
Epilepsy and Behavior Case Reports
, cilt.2, ss.196-198, 2014 (ESCI)
2011
2011A child with XYY karyotype and epilepsy
Deǧerliyurt A., CEYLANER G., CEYLANER S.
Journal of Pediatric Neurology
, cilt.9, sa.2, ss.255-258, 2011 (ESCI)
2011
2011Histopathological analysis of the placental lesions in pregnancies complicated with iugr and stillbirths in comparison with noncomplicated pregnancies Iugr ve ölü doǧumlarla komplike olmuş gebeliklerde plasental lezyonların histopatolojik analizi ve nonkomplike gebeliklerle karşılaştırılması
GÜNYELİ İ., ERDEMOĞLU E., CEYLANER S., Zergeroǧlu S., Mungan T.
Journal of the Turkish German Gynecology Association
, cilt.12, sa.2, ss.75-79, 2011 (ESCI)
2010
2010A Smith Lemli Opitz syndrome patient diagnosed with mild symptoms Hafif klinik belirtilerle tani alan bir Smith Lemli Opitz sendromu olgusu
Deǧerliyurt A., KILIÇ YILDIRIM G., AYCAN Z., CEYLANER S.
Turkiye Klinikleri Pediatri
, cilt.19, sa.2, ss.191-194, 2010 (Scopus)
2009
2009A prenatally diagnosed pentalogy of cantrell case with encephaloce: A rare variant Prenatal tanisi konmuş Cantrell Pentaloji̇si̇olgusu: Ensefaloseli̇n eşli̇k etti̇ǧi̇nadi̇r ḃir varyant
Güven M. A., CEYLANER G., CEYLANER S., Coşkun A., Bayazit H.
Turk Jinekoloji ve Obstetrik Dernegi Dergisi
, cilt.6, sa.2, ss.123-127, 2009 (Scopus)
2008
2008A case of rhizomelic chondrodysplasia punctata complicated with fetal arrhythmia
Dilli D., Yasar H., Baydar Z., Dilmen U., CEYLANER S., Altuǧ N., et al.
Erciyes Tip Dergisi
, cilt.30, sa.4, ss.278-283, 2008 (ESCI)
2005
2005A case with dextrocardia and multiple cardiac anomalies in a family with congenital heart malformations
CEYLANER S., Güven M. A., CEYLANER G., Çiragil G., Tuǧ M., Ertaş I. E.
Journal of the Turkish German Gynecology Association
, cilt.6, sa.2, ss.158-160, 2005 (ESCI)
2004
2004CHARGE association: A case report CHARGE asosi̇asyonu: Bi̇r olgu sunumu
Dilli D., CEYLANER S., Bostanci I., Tök Ö., Dallar Y.
Gulhane Medical Journal
, cilt.46, sa.3, ss.260-263, 2004 (Scopus)
2003
2003