Search Results - "Kesim, Yesim"

Effect of the brain-derived neurotrophic factor gene Val66Met polymorphism on sensory-motor integration during a complex motor learning exercise by Deveci, Sule (Şule), Matur, Zeliha, Kesim, Yesim (Yeşim), Senturk (Şentürk), Gokce (Gökçe), Sargın-Kurt, Gulcan (Gülcan), Ugur (Uğur), Sibel Aylin, Oge (Öge), Ali Emre

“…•The BDNF Met allele is related to lower performance in motor learning.•Presence of the BDNF Met allele leads to a different SMI pattern.•BDNF Met allele is…”
Get full text

Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability by Ugur Iseri, Sibel Aylin, Yucesan, Emrah, Tuncer, Feyza Nur, Calik, Mustafa, Kesim, Yesim, Altiokka Uzun, Gunes, Ozbek, Ugur

“…Intellectual disability (ID) is a genetically heterogeneous neurodevelopmental disorder characterised by significantly impaired intellectual and adaptive…”
Get full text

Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development by Ceroni, Fabiola, Cicekdal, Munevver B., Holt, Richard, Sorokina, Elena, Chassaing, Nicolas, Clokie, Samuel, Naert, Thomas, Talbot, Lidiya V., Muheisen, Sanaa, Bax, Dorine A., Kesim, Yesim, Kivuva, Emma C., Vincent-Delorme, Catherine, Lienkamp, Soeren S., Plaisancié, Julie, De Baere, Elfride, Calvas, Patrick, Vleminckx, Kris, Semina, Elena V., Ragge, Nicola K.

“…Anophthalmia, microphthalmia and coloboma (AMC) comprise a spectrum of developmental eye disorders, accounting for approximately 20% of childhood visual…”
Get full text

The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey by Haryanyan, Garen, Ozdemir, Ozkan, Tutkavul, Kemal, Dervent, Aysin, Ayta, Semih, Ozkara, Cigdem, Salman, Baris, Yucesan, Emrah, Kesim, Yesim, Susgun, Seda, Ozbek, Ugur, Baykan, Betul, Ugur Iseri, Sibel A, Bebek, Nerses

“…Lafora disease (LD) is a severe form of progressive myoclonus epilepsy inherited in an autosomal recessive fashion. It is associated with biallelic pathogenic…”
Get full text

Screening LGI1 in a cohort of 26 lateral temporal lobe epilepsy patients with auditory aura from Turkey detects a novel de novo mutation by Kesim, Yesim F, Uzun, Gunes Altiokka, Yucesan, Emrah, Tuncer, Feyza N, Ozdemir, Ozkan, Bebek, Nerses, Ozbek, Ugur, Iseri, Sibel A. Ugur, Baykan, Betul

“…Highlights • 26 lateral temporal lobe epilepsy patients from Turkey with auditory aura. • Screening leucine-rich, glioma-inactivated 1 ( LGI1 ) gene for…”
Get full text

SCREENING SLC2A1 GENE FOR SEQUENCE AND COPY NUMBER VARIATIONS ASSOCİATED WITH GLUT-1 DEFICIENCY SYNDROME by ÖRNEK ERGÜZELOĞLU, Cemre, KARA, Bülent, KARACAN, İlker, ÖZDEMİR, Özkan, KESİM, Yeşim, BEBEK, Nerses, ÖZBEK, Uğur, UĞUR İŞERİ, Sibel Aylin

“…Objective: Glucose transporter-1 deficiency syndrome (GLUT1- DS) is defined as a metabolic encephalopathy that is associated with heterozygous and usually de…”
Get full text

Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia by Kesim, Yesim, Ceroni, Fabiola, Damián, Alejandra, Blanco-Kelly, Fiona, Ayuso, Carmen, Williamson, Kathy, Paquis-Flucklinger, Véronique, Bax, Dorine A, Plaisancié, Julie, Rieubland, Claudine, Chamlal, Mostafa, Cortón, Marta, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K

Get full text

Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia by Kesim, Yesim, Ceroni, Fabiola, Damián, Alejandra, Blanco-Kelly, Fiona, Ayuso, Carmen, Williamson, Kathy, Paquis-Flucklinger, Véronique, Bax, Dorine A, Plaisancié, Julie, Rieubland, Claudine, Chamlal, Mostafa, Cortón, Marta, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K

“…Biallelic pathogenic variants in ALDH1A3 are responsible for approximately 11% of recessively inherited cases of severe developmental eye anomalies. Some…”
Get full text

Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder by Susgun, Seda, Kesim, Yesim, Khalilov, Dovlat, Sirin, Nermin Gorkem, Gezegen, Hasim, Salman, Baris, Yucesan, Emrah, Gokcay, Gulden, Korbeyli, Huseyin Kutay, Balci, Mehmet Cihan, Iseri, Sibel Aylin Ugur, Baykan, Betul, Bebek, Nerses

“…Neurodevelopmental disorders (NDDs) have broad heterogeneity both clinically and genetically. Inborn errors of metabolism can be one of the reasons of…”
Get full text

SCREENING SLC2A1 GENE FOR SEQUENCE AND COPY NUMBER VARIATIONS ASSOCIATED WITH GLUT-1 DEFICIENCY SYNDROME/ GLUT-1 EKSIKLIGI SENDROMU ILE ILISKILI SLC2A1 GENINDE YER ALAN DIZI VE KOPYA SAYISI VARYASYONLARININ INCELENMESI by Erguzeloglu, Cemre Ornek, Kara, Bulent, Karacan, Ilker, Ozdemir, Ozkan, Kesim, Yesim, Bebek, Nerses, Ozbek, Ugur, Iseri, Sibel Aylin Ugur

“…Objective: Glucose transporter-1 deficiency syndrome (GLUT1-DS) is defined as a metabolic encephalopathy that is associated with heterozygous and usually de…”
Get full text

Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey by Bekdik Şirinocak, Pınar, Salman, Barış, Kesim, Fatma Yeşim, Bebek, Nerses, Baykan, Betül, Ugur İşeri, Sibel Aylin

“…Juvenile myoclonic epilepsy (JME), characterized by predominating myoclonic seizures, is one of the most common forms of genetic generalized epilepsy. Genetic…”
Get full text

Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey/Juvenil Miyoklonik Epilepside EFHC1 Geni ile Iliskili Yatkinlik: Turkiye'den Ilk Olgu Sunumu by Sirinocak, Pinar Bekdik, Salman, Baris, Kesim, Fatma Yesim, Bebek, Nerses, Baykan, Betül, Iseri, Sibel Aylin Ugur

“…Juvenile myoclonic epilepsy (JME), characterized by predominating myoclonic seizures, is one of the most common forms of genetic generalized epilepsy. Genetic…”
Get full text

Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey by Bekdik Şirinocak, Pınar, Salman, Barış, Kesim, Fatma Yeşim, Bebek, Nerses, Baykan, Betül, Ugur İşeri, Sibel Aylin

Get full text

Jüvenil miyoklonik epilepside EFHC1 geni ile ilişkili yatkınlık: Türkiye’den ilk olgu sunumu by Bekdik Şirinocak,Pınar, Salman,Barış, Kesim,Fatma Yeşim, Bebek,Nerses, Baykan,Betül, Uğur İşeri,Sibel Aylin

“…Jüvenil miyoklonik epilepsi (JME), miyoklonik nöbetlerin ön planda olduğu, genetik jeneralize epilepsilerin en sık görülen formlarından biridir. JME’de yapılan…”
Get full text