Yazar "Vatansever, U." seçeneğine göre listele
Listeleniyor 1 - 9 / 9
Sayfa Başına Sonuç
Sıralama seçenekleri
Öğe A CASE OF TREACHER COLLINS SYNDROME(Macedonian Acad Sciences Arts, 2013) Ulusal, S.; Gurkan, H.; Vatansever, U.; Kurkcu, K.; Tozkir, H.; Acunas, B. A.Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c. 1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c. 1021_1022delAG mutation.Öğe A CASE WITH EMANUEL SYNDROME: EXTRA DERIVATIVE 22 CHROMOSOME INHERITED FROM THE MOTHER(Macedonian Acad Sciences Arts, 2015) Atli, Ikbal E.; Gurkan, H.; Vatansever, U.; Ulusal, S.; Tozkir, H.Emanuel syndrome (ES) is a rare chromosomal disorder that is characterized by multiple congenital anomalies and developmental disabilities. Affected children are usually identified in the newborn period as the offspring of balanced (11; 22) translocation carriers. Carriers of this balanced translocation usually have no clinical symptoms and are often identified after the birth of offspring with an unbalanced form of the translocation, the supernumerary der(22) t(11; 22) syndrome. We report a 3-year-old boy with the t(11;22)(q23;q11) chromosome, transmitted in an unbalanced fashion from his mother. He has several developmental delays; he is not independently ambulatory and language is significantly impaired. Using his peripheral blood, karyotyping was performed to define his multiple congenital anomalies, revealing the following chromosomal abnormality: 47,XY,+der(22)t(11;22)(q23.3;q11.2). To ascertain the origin and trait of this supernumerary marker chromosome [der(22)t(11;22)(q23.3;q11.2)], karyotyping of his parents was performed. The mother was found to be a balanced carrier: 46,XX,t(11;22)(q23.3;q11.2).Öğe Deletion of macro domain containing 2(MACRO D2) associated with transient hydrops fetalis(Elsevier Taiwan, 2018) Cilingir, I. Uzun; Sayin, Niyazi Cenk; Gurkan, H.; Ciftdemir, N. A.; Atli, E.; Inan, C.; Erzincan, S.; Sutcu, H.; Vatansever, U.; Varol, FusunMacro Domain Containing 2 (MACRO D2) gene is a gene from macro family which is highly expressed in the ventriculer zone of the brain during embryonic development. Association between Autism spectrum disorders and MACRO D2 gene polymorphisms has been reported before [1] . Deletion in MACRO D2 gene has also been associated with Kabuki Syndrome which is a well described congential anomaly syndrome [2] .Öğe THE EFFECT OF ANTENATAL STEROID ADMINISTRATION TIME ON POSTNATAL BLOOD PRESSURE IN VERY LOW BIRTH WEIGHT INFANTS(Springer, 2013) Yakar, Y. Cinar; Duran, R.; Acunas, B.; Ciftdemir, N. Aladag; Vatansever, U.; Sut, N.[Abstract Not Available]Öğe THE EFFECTS OF NOISE REDUCTION BY EARMUFFS ON THE PHYSIOLOGIC AND BEHAVIORAL RESPONSES IN VERY LOW BIRTHWEIGHT PRETERM INFANTS(Springer, 2013) Duran, R.; Ciftdemir, N. Aladag; Vatansever, U.; Berberoglu, U.; Durankus, F.; Sut, N.; Acunas, B.[Abstract Not Available]Öğe Neurodevelopmental and psychiatric assessments at 1-3 years of age conceived through assisted reproductive therapy(Wiley-Blackwell, 2010) Gorker, I; Vatansever, U.; Acunas, B.[Abstract Not Available]Öğe Neurodevelopmental and psychiatric assessments at corrected 1-3 years of age in very preterm infants(Wiley-Blackwell, 2010) Gorker, I; Vatansever, U.; Acunas, B.[Abstract Not Available]Öğe Scintigraphic evaluation of small intestinal transit in the streptozotocin induced diabetic rats(Lithographia, 2011) Durmus-Altun, G.; Vatansever, U.; Arzu, Vardar S.; Altaner, S.; Dirlik, B.Aim: Small intestine (SI) transit in the streptozotocin (STZ) induced diabetic rats were examined by using 99mTc-mebrofenin scintigraphy. Materials and methods: Wistar albino rats (mean body weight: 220 +/- 12 g) were studied for both control (n=10) and diabetes mellitus (DM) (n=10) groups. Diabetes was induced by a single intraperitoneal injection of streptozotocin (50 mg kg(-1) body weight. SI transit time was assessed by measuring arrival times of 99mTc-mebrofenin from duodenum to caecum. Results: The mean transit time of 99mTc-mebrofenin was 67.8 +/- 11 min in control group. The mean transit time of SI was prolonged in STZ induced diabetic animals with (111.9 +/- 12.5, p=0.01). There was significant correlation between small intestinal transit time and blood glucose level (r: 0.73, p=0.01). Conclusion: We observed that SI transit was prolonged in diabetic animals using 99mTc-mebrofenin, and additionally this technique is a readily available method for the detection of transit abnormalities in animal experiment. Hippokratia 2011; 15 (3): 262-264Öğe SERUM TAU AND S-100B PROTEIN LEVELS IN NEWBORN INFANTS WITH HYPERBILIRUBINEMIA(Springer, 2013) Vatansever, S. Yeldan; Duran, R.; Acunas, B.; Vatansever, U.; Ciftdemir, N. Aladag[Abstract Not Available]
