Search Results - "Karauzum, S B"

Prenatal diagnosis of a de novo supernumerary marker chromosome originating from chromosome 16 by Yakut, S, Cetin, Z, Simşek, M, Karaüzüm, S B, Tükün, A, Lüleci, G

“…Prenatal diagnosis of a de novo supernumerary marker chromosome originating from chromosome 16: A 37 year old pregnant woman was referred for amniocentesis at…”
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Partial trisomy 4(q31qter) due to maternal 4;5 balanced translocation in a neonate by Senses, D A, Silan, F, Uzun, H, Alagöz, D, Zafer, C, Kocabay, K, Karaüzüm, S B, Cetin, Z

“…We describe a male neonate with a duplication of 4(q31.3qter) due to unbalanced segregation of a maternal translocation (4;5)(31.3;p15.1). He has a high broad…”
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PRENATAL DIAGNOSIS OF DE NOVO SUPERNUMERARY MARKER CHROMOSOME ORIGINATED FROM CHROMOSOME 16 BY ARRAY-CGH by Yakut, S, Cetin, Z, Sanhal, C, Karauzum, S B, Karaman, B, Simsek, M

“…A 33 years-old pregnant woman was referred for amniocentesis at 19 weeks of gestation due to abnormal serum biochemistry. A non-satellited, monocentric marker…”
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PRENATAL DIAGNOSIS OF DE NOVO PERICENTRIC INVERSION INV(2)(p11.2z13) by Yakut, S, Cetin, Z, Sanhal, C, Karaman, B, Mendilcioglu, I, Karauzum, S B

“…We here report a prenatal case with de novo pericentric inversion inv(2)(p11.2q13). A 20-years-old G1PO woman was referred for amniocentesis at 17 weeks of…”
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22q11.2 syndrome due to maternal translocation t(18;22) (pl1.2;q11.2) by Nur, B G, Cetin, Z, Clark, O A, Mihci, E, Oygur, N, Karauzum, S B

“…22q11.2 deletion syndrome is a pattern of malformations resulting from abnormalities during cephalic neural crest migration and during the development of the…”
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Novel cytogenetic findings revealed by conventional cytogenetic and FISH analyses in leukaemia patients by Karauzum, S B, Bilgen, T, Karadogan, I, Yakut, S, Cetin, Z, Ugur, A, Luleci, G

“…To describe novel cytogenetic findings in four leukaemia patients. Conventional cytogenetic (CC) and fluorescence in situ hybridization (FISH) analyses were…”
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Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features by Caliskan, M O, Karauzum, S B, Mihci, E, Tacoy, S, Luleci, G

“…Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features: Cryptic aberrations involving the…”
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Retinoic acid isomers protect hippocampal neurons from amyloid-beta induced neurodegeneration by Sahin, M, Karauzum, S B, Perry, G, Smith, M A, Aliciguzel, Y

“…Attenuating amyloid-beta mediated neurodegeneration is of major therapeutic consideration in the potential treatment of Alzheimer disease. Previously, we found…”
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Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications by Kotzot, Dieter, Martinez, Maria-Jose, Bagci, Gulseren, Basaran, Seher, Baumer, Alessandra, Binkert, Franz, Brecevic, Lucrecja, Castellan, Claudio, Chrzanowska, Krystyna, Dutly, Fabrizio, Gutkowska, Anna, Karaüzüm, Sibel Berker, Krajewska-Walasek, Malgorzata, Luleci, Guven, Miny, Peter, Riegel, Mariluce, Schuffenhauer, Simone, Seidel, Heide, Schinzel, Albert

“…Cytogenetic, FISH, and molecular results of 20 cases with de novo tandem duplications of 18 different autosomal chromosome segments are reported. There were 12…”
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Aplasia Ras Homologous Member I Gene and Development of Glial Tumors by Yakut, S, Tuncer, M, Berker, M, Goksu, E, Gurer, I, Ozes, O, Luleci, G, Karauzum, S

“…The ARHI (aplasia Ras homologue member I, also known as DIRAS3) gene shows 60.0% sequence homology to the Ras proto-oncogene and was the first…”
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M-FISH applications in clinical genetics by Cetin, Z, Berker Karaüzüm, S, Yakut, S, Mihçi, E, Baumer, A, Wey, E, Taçoy, S, Bağci, G, Lüleci, G

“…Until recently, presence of de novo marker or derivative chromosomes was quite problematic for genetic counseling especially in prenatal diagnosis, because…”
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Existence of acute lymphoblastic leukemia and osteosarcoma in a child by KARAÜZÜM, Sibel Berker, HAZAR, Volkan, ACIKBAS, Ibrahim, GELEN, Tekinalp, YESILIPEK, M. Akif, LÜLECI, Güven

“…The existence of acute lymphoblastic leukemia (ALL) and osteosarcoma is described. An 8-year-old girl had osteosarcoma diagnosed on radiologic and pathologic…”
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Cytogenetic and CGH studies in a case of pulmonary hamartoma by KARAÜZÜM, Sibel, Berker, KESER, İbrahim, DEMİRCAN, Abid, LÜLECİ, Güven, PAKSOY, Nadir

“…Hamartomas are the most frequent benign tumour of lung that occur in adults and occasionally in children. They produce no symptoms but are often discovered…”
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