- Detection of an unbalanced t(4;15) by FISH in a child with multiple congenital anomalies
Department of Medical Biology and Genetics, Karadeniz Technical University, Faculty of Medicine, Turkey
Genet Couns 12:319-26. 2001
..This case further demonstrates the advantage of FISH in the identification of anomalous chromosome regions and breakpoints...
- Detection of chromosomal aberrations in prostate cancer by fluorescence in situ hybridization (FISH)
Karadeniz Technical University, Faculty of Medicine, Department of Medical Biology and Genetics, 61080 Trabzon, Turkey
Eur Urol 44:666-71. 2003
..For detection of numerical chromosome aberrations, we examined prostatic cancer samples at our department. In addition, we also observed primary and secondary aberrations taking part in the initiation and progression of tumours...
- Ring chromosome 18 in a child with febrile seizures
Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
Genet Couns 22:165-71. 2011
..The dysmorphic features of the presented patient are discussed to the identification of the genotype-phenotype correlation related to his karyotype...
- The frequency of chromosomal abnormalities in patients with reproductive failure
Karadeniz Technical University, Faculty of Medicine, Department of Medical Biology and Genetics, Trabzon, Turkey
Eur J Obstet Gynecol Reprod Biol 127:106-9. 2006
..To investigate the ratio of chromosomal abnormalities in recurrent fetal wastage...
- Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance
Karadeniz Technical University, Faculty of Medicine, Department Medical Biology, Trabzon, Turkey
Genet Couns 20:1-8. 2009
..In the results of this, autosomal dominant mutation (E402K) in exon 7 of KRT86 gene was identified as a cause of Moniltherix in the large family from Turkey...
- Fuhrmann syndrome associated with cortical dysplasia
F M Aynaci
Dept. of Child Neurology, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey
Genet Couns 12:49-54. 2001
..The MCA syndrome in the present patient is similar to these reported in 3 affected sibling by Fuhrmann et al...
- Chromosomal abnormalities in 457 Turkish patients with MCA/MR
Department of Medical Biology and Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey
Turk J Pediatr 48:130-4. 2006
..It is essential that fluorescence in situ hybridization (FISH) be used in conjunction with standard methods in order to maximize obtainable information for better management of patients with MR and/or MCA...
- Pontocerebellar hypoplasia associated with nevoid hyperpigmentation and dysmorphic findings: a new subtype?
F M Sonmez
Department of Child Neurology, Fatih University, Faculty of Medicine, Ankara, Turkey
Genet Couns 23:347-52. 2012
..Besides he has some dysmorphic features including microcephaly, triangular chin, long philtrum, long hand fingers, flexion contracture in all of the distal phalanges of both hands, and strabismus...
- Severe form of Cockayne syndrome with varying clinical presentation and no photosensitivity in a family
Fatma Mujgan Sonmez
Department of Child Neurology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
J Child Neurol 21:333-7. 2006
..The onset of the disease was between 3 and 6 months of age. Molecular genetic analyses in the family established linkage to ERCC6, the gene responsible for Cockayne syndrome type B, confirming the clinical diagnosis...
- Secondary glioblastoma multiforme with a new translocation t(3;3)(q21;q26) following treatment of acute lymphoblastic leukemia
Turk J Pediatr 47:98-9. 2005