Metrikler
Yayın
192
Açık Erişim
45
BM Sürdürülebilir Kalkınma Amaçları
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
2025
20251. Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor
Koç Yekedüz M., YILMAZ R., Abali T., Kibrit S. N., Karacan A. V., Unutmaz E. Y., et al.
Neurological Sciences
, cilt.46, sa.9, ss.4361-4373, 2025 (SCI-Expanded)
2025
20252. A case with a novel GATA1 variant mimicking immune thrombocytopenia attacks
Aktekin E. H., CEYLANER S., Beşen Ş., Erbay A., Yazıcı N.
Platelets
, cilt.36, sa.1, 2025 (SCI-Expanded)
2022
20223. Phenotypic 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
20224. Niemann-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
20225. A 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
20226. Successful 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
20227. First 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
20218. Rare 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
20219. Glucose-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
202110. Glycogen 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
202111. Episodic 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
202112. Retrospective 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
202113. Molecular 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
202114. Genotypic 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
202115. Loss 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
202116. Isolated 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
202117. Antioxidant 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
202118. LRBA 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
202119. More 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
202120. A 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
202121. Cytochrome 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
202122. Camptodactyly-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
202123. Congenital 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
202124. A 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
202125. Clinical 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
202126. An 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
202127. Novel 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
202128. Clinical 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
202129. Is 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
202130. Treatment 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
202131. Brown 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
202132. Genetic 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
202033. Extended 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
202034. Coinheritance 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
202035. Mild 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
202036. Aceruloplasminemia 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
202037. A 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
202038. Clinical, 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
202039. A 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
202040. Two 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
202041. Early-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
202042. A 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
202043. Genotypes 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
202044. Hypokalemia 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
202045. Cardiac 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
202046. First 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
202047. Clinical 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)
2020
202048. Ectopic 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
202049. Clinical 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
202050. Importance 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
202051. A 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
202052. A 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)
2019
201953. The 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
201954. Analysis 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
201955. Clinical, 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
201956. A 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
201957. Novel 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
201958. Association 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
201959. A 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
201960. Clinical 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
201961. Ataxia, 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)
2019
201962. Neonatal 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)
2018
201863. Nonketotic 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
201864. A 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
201865. Arare 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
201866. Recurrent 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
201867. Four 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
201868. Identification 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
201869. Twenty-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
201870. A 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
201771. A 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
201772. Early-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
201773. A 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
201774. Type 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
201775. Improved 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
201776. Congenital 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
201677. A 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
201678. Crouzonodermoskeletal 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
201679. Excellent 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
201680. Rodriguez 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
201681. Cystinosis 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
201682. Sertoli 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
201683. Early-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
201684. Maturity 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
201685. Coexistence 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
201686. Combination 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
201687. Brown-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
201688. KEPT 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
201689. Vici 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
201590. Molecular 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
201591. Mitochondrial Membrane Protein-Associated Neurodegeneration
YILMAZ SÜSLÜER S., GÖKBEN S., CEYLANER S.
Pediatric Neurology
, cilt.53, sa.4, ss.373-374, 2015 (SCI-Expanded)
2015
201592. Giant 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
201593. Primary 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
201594. Testotoxicosis: 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
201595. A 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
201596. Pyridoxine-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
201597. Two 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
201598. Three 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
201599. Reversible 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
2015100. Oral-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
2015101. Turkish 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
2015102. A 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
2015103. Citrin 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
2015104. Single 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)
2015
2015105. Unilateral 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)
2014
2014106. Reversible 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
2014107. X-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
2014108. A 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
2014109. Cytokine 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)
2014
2014110. A 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
2014111. Recurrent 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
2014112. Chronic 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)
2013
2013113. Are 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
2013114. Prenatal 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
2013115. Acromesomelic 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
2013116. Primary 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
2013117. Nephron-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
2013118. Phenotypic 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
2012119. Novel 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
2012120. A 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
2012121. A 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
2012122. Hydranencephaly, 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
2012123. Genetic 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)
2012
2012124. High 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
2012125. The 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)
2011
2011126. Ovulation 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
2011127. A 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
2011128. Coexistence 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
2011129. A 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
2011130. Vascular 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
2011131. An 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
2010132. A 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
2010133. Sporadic 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
2010134. A 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
2010135. Carmi 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
2010136. Lumbocostovertebral 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
2010137. Partial 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
2010138. Mutations 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
2010139. Genetic 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
2009140. Multiple 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
2009141. A 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
2009142. Prenatal 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
2009143. Prenatal 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
2009144. A 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
2009145. Hypomelanosis 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
2009146. Results 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
2008147. A 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
2008148. Goldenhar 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
2008149. Apparent 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
2008150. GJB2 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
2008151. Y 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
2008152. Autosomal 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
2007153. Chromosomal 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
2007154. Neu-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
2007155. Evaluation 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
2007156. Correspondence: 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
2007157. Proteus 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
2007158. Prenatal 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
2006159. Prenatal 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
2006160. Extremely 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
2006161. An 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
2006162. Prenatal 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
2006163. Postmortem 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
2006164. A 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
2005165. SALL4 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
2005166. Craniosynostosis 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
2005167. A 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
2004168. Prenatal 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
2004169. Three 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
2003170. Empty 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
2002171. Evaluation 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
2001172. Cutis 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
1995173. A 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
20251. Coexistence 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
20232. Allojeneik 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
20203. Further 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
20194. Prenatal 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
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2019
20195. A 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
20196. When 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
20197. A 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
20188. MaFOS-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
20169. Mitochondrial 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
201510. Merosin-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
201411. Stimulus-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
201112. A 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
201113. Histopathological 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
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Journal of the Turkish German Gynecology Association
, cilt.12, sa.2, ss.75-79, 2011 (ESCI)
2010
201014. A 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
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2009
200915. A prenatally diagnosed pentalogy of cantrell case with encephaloce: A rare variant Prenatal tanisi konmuş Cantrell Pentaloji̇si̇olgusu: Ensefaloseli̇n eşli̇k etti̇ǧi̇nadi̇r ḃir varyant
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Turk Jinekoloji ve Obstetrik Dernegi Dergisi
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2008
200816. A 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
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2005
200517. A 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
200418. CHARGE 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