Publications by authors named "Sait Tumer"

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Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Huw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, Isabelle Schrauwen, Hanan E Shamseldin, Sait Tumer

Am J Hum Genet· April 2025

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A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene.
Eyyup Uctepe, Nefise Kandemir, Firdevs Dinçsoy Bir, Asuman Nur Karhan, Sait Tumer

Mol Syndromol· June 2024

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Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.
Eyyup Uctepe, Barbara Vona, Fatma Nisa Esen, F Mujgan Sonmez, Thomas Smol

Eur J Hum Genet· January 2024

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-Related Intellectual Disability: Report of Two New Cases and Review of the Literature.
Eyyup Uctepe, Ahmet Yesilyurt, Fatma Nisa Esen, Sait Tumer, Hanifenur Mancilar

Mol Syndromol· December 2023

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Chromosome 1p status in neuroblastoma correlates with higher expression levels of miRNAs targeting neuronal differentiation pathway.
Ozkan Bagci, Sait Tumer, Oguz Altungoz

In Vitro Cell Dev Biol Anim· February 2023

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KCNB1 frameshift variant caused inherited intellectual disability, developmental delay, and seizure.
Eyyup Uctepe, Fatma Nisa Esen, Sait Tümer, Hanifenur Mancılar, Ahmet Yeşilyurt

Intractable Rare Dis Res· November 2022

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Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Munis Dundar, Umut Fahrioglu, Saliha Handan Yildiz, Burcu Bakir-Gungor, Sehime Gulsun Temel, Sait Tumer

Funct Integr Genomics· June 2022

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Rapid identification of and assessment of clarithromycin susceptibility from clinical specimens using FISH.
Ebru Demiray-Gürbüz, Özlem Yılmaz, Asalia Z Olivares, Can Gönen, Sülen Sarıoğlu

J Pathol Clin Res· January 2017

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The Detection of Genetic Parameters for Prognostic Stratification of Neuroblastoma Using Multiplex Ligation-Dependent Probe Amplification Technique.
Sait Tumer, Oguz Altungoz, Ozkan Bagci, H Nur Olgun

Genet Test Mol Biomarkers· February 2016

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Copy number status and mutation analyses of anaplastic lymphoma kinase (ALK) gene in 90 sporadic neuroblastoma tumors.
Ozkan Bagci, Sait Tumer, Nur Olgun, Oguz Altungoz

Cancer Lett· April 2012

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Association of MYCN amplification and 1p deletion in neuroblastomas with high tumor vascularity.
Erdener Ozer, Oguz Altungoz, Mehtat Unlu, Nevim Aygun, Sait Tumer

Appl Immunohistochem Mol Morphol· June 2007

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Detection of Helicobacter pylori and determination of clarithromycin susceptibility using formalin-fixed, paraffin-embedded gastric biopsy specimens by fluorescence in situ hybridization.
Ozlem Yilmaz, Ebru Demiray, Sait Tümer, Oğuz Altungöz, Kutsal Yörükoğlu

Helicobacter· April 2007

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Correlation of modified Shimada classification with MYCN and 1p36 status detected by fluorescence in situ hybridization in neuroblastoma.
Oguz Altungoz, Nevim Aygun, Sait Tumer, Erdener Ozer, Nur Olgun

Cancer Genet Cytogenet· January 2007

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