Yazar "Ogur, Gonul" için listeleme
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Absence of the lateral and third ventricles associated with holoprosencephaly
Ciftcioglu, Engin; Ozyurek, Hamit; Nural, Mehmet Selim; Kopuz, Cem; Incesu, Lutfi; Ogur, Gonul (Medrang, 2015)We describe a 6-month-old boy suffering from motor and mental retardation. All radiological features were suggestive of holoprosencephaly with no identifiable lateral or third ventricles and fusion of the thalami. -
Chromosomal and Y-chromosome microdeletion analysis in 1,300 infertile males and the fertility outcome of patients with AZFc microdeletions
Abur, Ummet; Gunes, Sezgin; Asci, Ramazan; Altundag, Engin; Akar, Omer S.; Ayas, Bulent; Ogur, Gonul (Wiley, 2019)The present study investigated the frequency of chromosome aberrations and AZF microdeletions in infertile patients with nonobstructive azoospermia (NOA) or severe oligozoospermia. Additionally, the effect of the AZFc ... -
Chromosomal anomalies and additional sonographic findings in fetuses with open neural tube defects
Yazici, Lutfiye Eren Ensari; Malatyalioglu, Erdal; Sakinci, Mehmet; Tosun, Migraci; Bildircin, Fatma Devran; Ogur, Gonul; Karayel, Metin (Springer Heidelberg, 2012)Objective To evaluate the results and the necessity of chromosome analysis in fetuses prenatally detected with a neural tube defect and to determine the significance of ultrasonographic evaluation for the identification ... -
Could familial Mediterranean fever gene mutations be related to PFAPA syndrome?
Celiksoy, Mehmet H.; Ogur, Gonul; Yaman, Elif; Abur, Ummet; Fazla, Semanur; Sancak, Recep; Yildiran, Alisan (Wiley, 2016)BackgroundThe cause and pathophysiology of PFAPA syndrome is unknown. The aim of this study was to determine all MEFV gene variants relevant to familial Mediterranean fever in children with PFAPA syndrome. MethodsAll MEFV ... -
Genetic Burden and Outcome of Cystic Hygromas Detected Antenatally: Results of 93 Pregnancies from a Single Center in the Northern Region of Turkey
Aymelek, Huri Sema; Ogur, Gonul; Tosun, Migraci; Abur, Ummet; Altundag, Engin; Celik, Handan; Alper, Tayfun (Wolters Kluwer Medknow Publications, 2019)Objective: Genetic burden, fetal malformations, and fetal outcomes of 93 fetuses with cystic hygroma (CH) are reported from a single center in Turkey. Patients and Methods: Pregnancies, having a diagnosis of fetal CH, ... -
Germ cell tumor showing partial trisomy 1 in a gonadectomized intersex child with monosomy X and double Y mosaicism
Ogur, Gonul; Pinarli, Faruk Guclu; Dagdemir, Ayhan; Artan, Sevilhan; Ariturk, Ender; Elli, Murat; Okten, Gulsen (Lippincott Williams & Wilkins, 2006)High incidence of germ cell tumors arising from dysgenetic gonads in patients with sexual chromosome abnormalities has been described, especially in patients with a Y chromosome bearing cell line. Here we report a 14-year-old ... -
Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Patients in the Black Sea Region of Turkey
Yildiran, Alisan; Celiksoy, Mehmet Halil; Borte, Stephan; Guner, Sukru Nail; Elli, Murat; Fisgin, Tunc; Ogur, Gonul (Galenos Yayincilik, 2017)Hematopoietic stem cell transplantation is a promising curative therapy for many combined primary immunodeficiencies and phagocytic disorders. We retrospectively reviewed pediatric cases of patients diagnosed with primary ... -
Imiquimod Inhibits Proliferation of Serous Epithelial Ovarian Cancer Cells in Vitro: A Preliminary Study
Kokcu, Arif; Alper, Tayfun; Ogur, Gonul; Akar, Omer Salih; Ozdes, Emel Kurtoglu; Altunkaynak, Berrin Zuhal (Springer India, 2020)Purpose Imiquimod, known as positive immune response modifier and stimulates local cytokine induction, has been used in therapy of genital warts via increasing local interferon and reducing human papillomavirus production. ... -
Impact of Fluorescent in Situ Hybridization Aberrations and CLLU1 Expression on the Prognosis of Chronic Lymphocytic Leukemia: Presentation of 156 Patients from Turkey
Abur, Ummet; Ogur, Gonul; Akar, Omer Salih; Altundag, Engin; Aymelek, Huri Sema; Ozatli, Duzgun; Turgut, Mehmet (Galenos Yayincilik, 2018)Objective: This study evaluates the impact of CLLU1 expression and fluorescent in situ hybridization (FISH) analysis of a group of Turkish chronic lymphocytic leukemia (CLL) patients. Materials and Methods: A total of 156 ... -
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
Putoux, Audrey; Thomas, Sophie; Coene, Karlien L. M.; Davis, Erica E.; Alanay, Yasemin; Ogur, Gonul; Colin, Estelle (Nature Publishing Group, 2011)KIF7, the human ortholog of Drosophila Costal2, is a key component of the Hedgehog signaling pathway. Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation ... -
Long-Term Outcome of Fetuses with Soft Marker and Without Genetic or Structural Abnormality
Tosun, Migraci; Ozdes, Emel Kurtoglu; Malatyalioglu, Erdal; Yavuz, Erhan; Celik, Handan; Bildircin, Fatma Devran; Ogur, Gonul (Springer India, 2019)PurposeTo determine long-term outcome of infants with isolated or multiple soft markers but no structural or chromosomal abnormalities.MethodsA retrospective study of 78 pregnant women who were referred for amniocentesis ... -
Management of Neuropathic Pain in Fabry Disease
Turker, Hande; Akpinar, Cetin Kursad; Cengiz, Kuddusi; Bayrak, Ayse Oytun; Ogur, Gonul (Journal Neurological Sciences, 2016)Aims: The goal was to investigate the diagnostic yield of Lanss and DN4 scores which have not been used in Fabry Disease until now, to our knowledge. Material and Methods: Eighteen patients aged between 8 and 51 years were ... -
Premature ovarian failure due to tetrasomy X in an adolescent girl
Kara, Cengiz; Utyol, Ala; Yilmaz, Aysegul; Altundag, Engin; Ogur, Gonul (Springer, 2014)Tetrasomy X associated with premature ovarian failure has been described in a few patients, and the parental origin of the extra X chromosomes has not been investigated so far in this group. A 15-year-old girl with mental ... -
A Retrospective Evaluation of the Patients with Congenital Heart Disease in Neonatal Intensive Care Unit
Erturk, Emine Yurdakul; Kucukoduk, Sukru; Baysal, Kemal; Ayyildiz, Pelin; Yilmaz, Aysegul; Ogur, Gonul (Galenos Yayincilik, 2016)Introduction: Congenital heart disease (CHD) is the most common congenital anomaly in newborns. In this study it was aimed to investigate the demographic features of the patients with CHD diagnosed in neonatal intensive ... -
Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: A clinical report and review of the literature
Aygun, Canan; Celik, Fatma Cakmak; Nural, Mehmet Selim; Azak, Emine; Kucukoduk, Sukru; Ogur, Gonul; Incesu, Lutfi (Wiley-Blackwell, 2012)We report on a patient with Sedaghatian type spondylometaphyseal dysplasia (SSMD) who presented with metaphyseal dysplasia, congenital atrioventricular block, simplified gyral pattern, hypogenesis of corpus callosum, and ... -
t(6;9)(p23;q34) Presenting Acute Myeloid Leukemia in a Child With an Unsuspected 45,X/46,X,derY [?t(Yp;Yq)] Chromosomal Constitution: Yet Another Y Chromosome Overdosage and Malignancy Association
Ogur, Gonul; Duru, Feride; Ozyurek, Emel; Fisgin, Tunc (Lippincott Williams & Wilkins, 2012)Development of leukemia in patients with sexual chromosome abnormalities is relatively rare and mostly involves cases of monosomy X, Turner syndrome. Here, we report on a child having a 45,X/46,X,derY [?t(Yp;Yq)] chromosomal ... -
Two Males with SRY-Positive 46,XX Testicular Disorder of Sex Development
Gunes, Sezgin; Asci, Ramazan; Okten, Gulsen; Atac, Fatih; Onat, Onur E.; Ogur, Gonul; Bagci, Hasan (Informa Healthcare, 2013)The 46,XX testicular disorder of sex development (46,XX testicular DSD) is a rare phenotype associated with disorder of the sex chromosomes. We describe the clinical, molecular, and cytogenetic findings of a 16- and a ... -
Vesicourethral Reflux-Induced Renal Failure in a Patient with ICF Syndrome Due to a Novel DNMT3B Mutation
Kutlug, Seyhan; Ogur, Gonul; Yilmaz, Aysegul; Thijssen, Peter E.; Abur, Ummet; Yildiran, Alisan (Wiley, 2016)ICF syndrome is a primary immunodeficiency disease characterized by hypo-or agammaglobulinemia, centromeric instability mainly on chromosomes 1, 9, and 16 and facial anomalies. ICF syndrome presents with frequent respiratory ...