Serdar Ceylaner

Publications (58) View all

• Article: High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.

  S Kalb, A O Caglayan, A Degerliyurt, S Schmid, S Ceylaner, N Hatipoglu, K Hinderhofer, H Rehder, S Kurtoglu, G Ceylaner, J Zschocke, M Witsch-Baumgartner
  Clinical Genetics 12/2011; 81(6):598-601. · 3.13 Impact Factor
• Article: A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome.

  S Senel, S Ceylaner, G Ceylaner, A Hanli Sahin, J Andrieux, J P Delaunoy
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  ABSTRACT: Coffin-Lowry syndrome is an X-linked disorder characterized by mental retardation, characteristic facial features, skeletal abnormalities, and tapering fingers. Herein we report a novel missense mutation in exon 7 at codon 180 in the RPS6KA3 gene in a boy with Coffin-Lowry syndrome.
  Genetic counseling (Geneva, Switzerland) 01/2011; 22(1):21-4. · 0.50 Impact Factor
• Article: Ovulation induction with gonadotropins causes increased sister chromatid exchanges.

  E Tonguç, G Ceylaner, T Var, E Zülfkaroğlu, S Ceylaner
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  ABSTRACT: Gonadotropins are widely accepted agents for ovulation induction in infertile women. On the other hand, several authors discuss the possible effect of gonadotropins on the developmental mechanism of ovarian cancer. SCE is a method of genotoxicity investigation and it is an excellent parameter to monitor the DNA damage and repair. There are numbers of studies showing the relationship between endogenous or exogenous hormones and SCEs. The aim of this study was to investigate with SCE techniques the effects of long-term (6 months) use of gonadotropins on DNA as we couldn't find any other study on the effect of long term use. We found increased sister chromatid exchange rates in a study group as compared to a control group. This may be one of the causes of increased ovarian cancer risk in infertile population.
  Genetic counseling (Geneva, Switzerland) 01/2011; 22(2):193-8. · 0.50 Impact Factor
• Source

  Available from: Semih Dalkilic

  Article: Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies.

  D Karcaaltincaba, S Ceylaner, G Ceylaner, S Dalkilic, K Karli-Oguz, O Kandemir
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  ABSTRACT: We report a case of partial trisomy 22q with de novo duplication of chromosomal region 22q11.1-22q13.1, also confirmed by microarray comparative genomic hybridization (Array-CGH) analysis. The fetus had interhemispheric cyst and corpus callosum agenesis diagnosed by MRI which has not been reported in the literature. This novel phenotype differs from the reported cat eye syndromes by the absence of heart defects and the presence of brain anomalies.
  Genetic counseling (Geneva, Switzerland) 01/2010; 21(1):19-24. · 0.50 Impact Factor
• Article: A case of otocephaly with anencephaly and meningomyelocele.

  T Tos, S Ceylaner, S Senel, S Aktas, Y Alp
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  ABSTRACT: A case of otocephaly with anencephaly and meningomyelocele: Otocephaly is a rare lethal syndrome with microstomia, aglossia, agnathia, and synotia as major clinical features due to arrest in development of the first branchial arch. Some associated anomalies may be present as cyclopia, holoprosencephaly, cerebellar hypoplasia, situs inversus, and other visceral anomalies. We describe a case of fetus, spontaneously aborted in the 14th week of gestation with otocephaly complex (agnathia, synotia, microstomia) and associated anencephaly and meningomyelocele.
  Genetic counseling (Geneva, Switzerland) 01/2010; 21(3):325-8. · 0.50 Impact Factor