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Öğe Clinical and molecular aspects of PTEN mutations in pediatric population: A retrospective study(Nature Publishing Group, 2019) Isik, E.; Simsir, O. S.; Onay, H.; Atik, T.; Aykut, A.; Durmaz, A.; Özkınay, Ferda[No abstract available]Öğe Clinical and molecular aspects of the patients with Berardinelli-Seip congenital lipodystrophy types 1 and 4(Nature Publishing Group, 2019) Gunes, N.; Erkan, T.; Kutlu, T.; Onay, H.; Atik, T.; Tuysuz, B.[No abstract available]Öğe CONGENITAL ABSENCE OF THE PORTAL VEIN IN A CHILD WITH TURNER SYNDROME(Medecine Et Hygiene, 2015) Sahin, O. N. Atan; Atik, T.; Özkınay, FerdaÖğe The development of a fast newborn screening method for common neonatal metabolic disorders based on nanopore sequencing technology(Nature Publishing Group, 2019) Onay, H.; Akgun, B.; Yalcinkaya, T.; Dilsizoglu, E.; Kaya, A. B.; Tasar, O.; Atik, T.[No abstract available]Öğe GENETIC COUNSELLING IN FEINGOLD SYNDROME AND A NOVEL MUTATION(Medecine Et Hygiene, 2016) Atik, T.; Guvenc, M. S.; Onay, H.; Özkınay, Ferda; Cogulu, O.Genetic counselling in Feingold syndrome and a novel mutation: Feingold syndrome (FS) is an autosomal dominant hereditary disorder characterised by finger and toe abnormalities, microcephaly, facial dysmorphism, gastrointestinal atresias such primarily as oesophageal and/or duodenal atresia and mild to moderate mental retardation. Approximately 60% of cases have an affected parent. MYCN is the only gene in which mutations are known to cause FS. In this report, we present a case with Feingold Syndrome having a novel mutation in MYCN gene and discuss genetic counselling and prenatal diagnosis due to pregnancy of the patient's mother.Öğe HOXC4 gene is possibly responsible for Lin-Gettig syndrome(Nature Publishing Group, 2018) Atik, T.; Isik, E.; Ozen, S.; Akgun, B.; Onay, H.; Cogulu, O.; Ozkinay, F.[No Abstract Available]Öğe Identification of the molecular etiology in early epileptic encephalopathy using whole exome sequencing(Springernature, 2020) Isik, E.; Atik, T.; Yilmaz, S. Keskin; Aktan, G.; Onay, H.; Gokben, S.; Ozkinay, F.[No Abstract Available]Öğe Intracranial bleeding in a female hemophilia patient: molecular analysis of factor 8 and determination of a novel mutation(Wiley, 2018) Gunes, B. T.; Sivis, Z. O.; Ataseven, E.; Malbora, B.; Turker, M.; Atabay, B.; Belen, F. B.; Atik, T.; Isik, E.; Özkınay, FerdaÖğe Investigation of androgen receptor (AR) gene mutation spectrum in the turkish patients with disorder of sex development(Nature Publishing Group, 2018) Onay, H.; Ozen, S.; Turk, T. Sozen; Darcan, S.; Atik, T.; Anik, A.; Guven, A.[No Abstract Available]Öğe Investigation of FBN1 gene mutations in clinically diagnosed Marfan's syndrome patients(Nature Publishing Group, 2019) Ceylan, E.; Isik, E.; Solmaz, A. Ece; Atik, T.; Özkınay, Ferda; Cogulu, O.; Onay, H.[No abstract available]Öğe MEGALOCORNEA SHOULD BE INVESTIGATED IN CASES WITH HYPOTONIA AND MENTAL RETARDATION: NEUHAUSER SYNDROME - AN EASILY MISSED DIAGNOSIS(Medecine Et Hygiene, 2015) Atik, T.; Atik, S. Sahin; Cogulu, O.; Özkınay, FerdaÖğe Molecular diagnosis in patients with monogenic diabetes mellitus, and detection of a novel candidate gene(Elsevier Ireland Ltd, 2023) Goksen, D.; Evin, F.; Isik, E.; Ozen, S.; Atik, T.; Ozkinay, F.; Akcan, N.Aim: We aimed to investigate molecular genetic basis of monogenic diabetes (DM) and novel responsible candidate genes with targeted Next Generation Sequencing (NGS) and Whole Exome Sequencing (WES). Methods: A hundred cases presenting with clinical findings and a family history of monogenic DM were included in the study. Molecular analysis was performed using an NGS panel including 14 genes. Following targeted NGS, WES was planned in cases in whom no variant was detected. Results: Thirty different disease-causing variants in seven different genes were detected in thirty-five (35 %) cases with targeted NGS approach. Most common pathogenic variant was found in GCK gene in 25 (25 %) cases. Four different variants were detected in 4 (4 %) patients in ABCC8 gene. In 45 of 65 cases; WES analyses were done. A heterozygous c.2635C > T(p.Gln879Ter) variant was detected in IFIH1 gene in a patient with incidental hyperglycemia. In the segregation analysis affected mother was shown to be heterozygous for the same variant. Conclusion: Molecular etiology was determined in 35 % cases with the NGS targeted panel. Seventeen novel variants in monogenic DM genes have been identified. A candidate gene determined by WES analysis in a case that could not be diagnosed with NGS panel in this study. © 2023 Elsevier B.V.Öğe The mutation spectrum of DHCR7 gene and two novel mutations(Nature Publishing Group, 2018) Isik, E.; Onay, H.; Akgun, B.; Atik, T.; Aykut, A.; Durmaz, A.; Elmas, M.[No Abstract Available]Öğe Mutation spectrum of F8 gene in Turkish hemophilia A patients: identification of 14 novel mutations(Wiley, 2018) Atik, T.; Isik, E.; Akgun, B.; Onay, H.; Kavakli, K.; Ozbek, N. Y.; Evim, M.; Balkan, C.; Gunes, A. M.; Culha, V.; Unal, E.; Belen, F. B.; Sahin, F.; Özkınay, FerdaÖğe NEXT GENERATION SEQUENCING ANALYSIS IN NEONATAL/EARLY EPILEPTIC ENCEPHALOPATHY(Wiley-Blackwell, 2015) Yilmaz, S.; Onay, H.; Gokben, S.; Serdaroglu, G.; Atik, T.; Tekin, H.; Özkınay, FerdaÖğe A nonsense mutation in the first exon of CHD8 causes a multi-organ disease phenotype: Is it a novel syndrome or a detection of an additional gene resulting in CHARGE syndrome(Springernature, 2020) Atik, T.; Simsir, S.; Isik, E.; Ozkinay, F.[No Abstract Available]Öğe A NOVEL MOLECULAR INDICATOR FOR INHIBITOR DEVELOPMENT IN HEMOPHILIA A(Wiley, 2020) Atik, T.; Mehdiyeva, H.; Akgun, B.; Özkınay, Ferda; Kavakli, K.[No abstract available]Öğe PARTIAL TRISOMY 2p24 -> pter AND MONOSOMY 18q22.1 -> pter RESULTING FROM PARENTAL TRANSLOCATION(Medecine Et Hygiene, 2013) Atik, T.; Durmaz, B.; Yorganci, O. U.; Cogulu, O.; Kioutsouk, M.; Özkınay, FerdaPartial trisomy 2p24 -> pter and monosomy 18q22.1 -> qter resulting from parental translocation: This is a report of a 6 month-old boy with a partial trisomy 2p24 -> pter and monosomy 18q22 -> qter. This is the first case presenting this unbalanced translocation with phenotypic features. The patient had growth and developmental retardation, facial dysmorphism, cleft palate, congenital cardiopathy, hypospadias, evantration of diaphragm and deafness. Cranial MRI showed mild ventricular dilatation. Cytogenetic analysis of the patient and his parents revealed a karyotype 46,XY, der(18), t(2;18)(p24;q22)mat in the patient. Subtelomeric FISH analysis confirmed the cytogenetic findings. Phenotypic features were consistent with either partial trisomy 2p or deletion 18q.Öğe PARTIAL TRISOMY 2p24 -> pter AND MONOSOMY 18q22.1 -> pter RESULTING FROM PARENTAL TRANSLOCATION(Medecine Et Hygiene, 2013) Atik, T.; Durmaz, B.; Yorganci, O. U.; Cogulu, O.; Kioutsouk, M.; Özkınay, FerdaPartial trisomy 2p24 -> pter and monosomy 18q22.1 -> qter resulting from parental translocation: This is a report of a 6 month-old boy with a partial trisomy 2p24 -> pter and monosomy 18q22 -> qter. This is the first case presenting this unbalanced translocation with phenotypic features. The patient had growth and developmental retardation, facial dysmorphism, cleft palate, congenital cardiopathy, hypospadias, evantration of diaphragm and deafness. Cranial MRI showed mild ventricular dilatation. Cytogenetic analysis of the patient and his parents revealed a karyotype 46,XY, der(18), t(2;18)(p24;q22)mat in the patient. Subtelomeric FISH analysis confirmed the cytogenetic findings. Phenotypic features were consistent with either partial trisomy 2p or deletion 18q.Öğe POU1F1 and PROP1 gene mutations in 4 cases of combined pituitary hormone deficiency(Nature Publishing Group, 2018) Cengisiz, Z. Karademir; Akgun, B.; Isik, E.; Darcan; Atik, T.; Aykut, A.; Ozkinay, F.[No Abstract Available]