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Search life-sciences literature (45,104,145 articles, preprints and more)

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tubg1 Somatic Mutants Show Tubulinopathy-Associated Neurodevelopmental Phenotypes in a Zebrafish Model.
Cark O, Katkat E, Aydogdu I, Iscan E, Oktay Y, Ozhan G
Mol Neurobiol, 31 Aug 2024
Cited by: 0 articles | PMID: 39215931
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Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.
Falabella M, Pizzamiglio C, Tabara LC, Munro B, Abdel-Hamid MS, Sonmezler E, Macken WL, Lu S, Tilokani L, Flannery PJ, Patel N, Pope SAS, Heales SJR, Hammadi DBH, Alston CL, Taylor RW, Lochmuller H, Woodward CE, Labrum R, [...] Pitceathly RDS
Brain, awae268, 30 Aug 2024
Cited by: 0 articles | PMID: 39279645
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Expressions of the satellite repeat HSAT5 and transposable elements are implicated in disease progression and survival in glioma.
Köse SN, Yaraş T, Bursali A, Oktay Y, Yandim C, Karakülah G
Turk J Biol, 48(4):242-256, 01 Jul 2024
Cited by: 0 articles | PMID: 39296333 | PMCID: PMC11407350
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A microdeletion event at 19q13.43 in IDH-mutant astrocytomas is strongly correlated with MYC overexpression.
Ülgen E, Gerlevik U, Gerlevik S, Oktay Y, Sezerman OU, Turcan Ş, Ozduman K
Acta Neuropathol Commun, 12(1):95, 14 Jun 2024
Cited by: 0 articles | PMID: 38877600 | PMCID: PMC11177509
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Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
Cavusoglu D, Ozturk G, Turkdogan D, Kurul SH, Yis U, Komur M, Incecik F, Kara B, Sahin T, Unver O, Dilber C, Mert GG, Gunay C, Uzan GS, Ersoy O, Oktay Y, Mermer S, Tuncer GO, Gungor O, [...] Sonmez FM
Cerebellum, 23(5):1950-1965, 15 Apr 2024
Cited by: 0 articles | PMID: 38622473 | PMCID: PMC11489189
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Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Wilson LA, Macken WL, Perry LD, Record CJ, Schon KR, Frezatti RSS, Raga S, Naidu K, Köken ÖY, Polat I, Kapapa MM, Dominik N, Efthymiou S, Morsy H, Nel M, Fassad MR, Gao F, Patel K, Schoonen M, [...] Hanna MG
Brain, 146(12):5098-5109, 01 Dec 2023
Cited by: 6 articles | PMID: 37516995 | PMCID: PMC10690022
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StemnesScoRe: an R package to estimate the stemness of glioma cancer cells at single-cell resolution.
Koçhan N, Oktay Y, Karakülah G
Turk J Biol, 47(6):383-392, 15 Dec 2023
Cited by: 0 articles | PMID: 38681778 | PMCID: PMC11045207
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Editorial: Mental health: cell models to mechanisms.
Harwood AJ, Petrakis S, Oktay Y, Pasterkamp RJ
Front Cell Dev Biol, 11:1244425, 25 Jul 2023
Cited by: 0 articles | PMID: 37560163 | PMCID: PMC10407806
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The Relationship Between Cardiovascular Disease Risk and Major Depression.
Ozturk BT, Ozel F, Yaras T, Ekinci B, Oktay Y, Aysevener EO, Alkın T, Direk N
Noro Psikiyatr Ars, 60(2):124-128, 03 May 2023
Cited by: 1 article | PMID: 37287563 | PMCID: PMC10242288
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Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Lecca M, Pehlivan D, Suñer DH, Weiss K, Coste T, Zweier M, Oktay Y, Danial-Farran N, Rosti V, Bonasoni MP, Malara A, Contrò G, Zuntini R, Pollazzon M, Pascarella R, Neri A, Fusco C, Marafi D, Mitani T, [...] Errichiello E
Am J Hum Genet, 110(4):681-690, 29 Mar 2023
Cited by: 7 articles | PMID: 36996813 | PMCID: PMC10119151
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DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature.
Özsoy Ö, Cinleti T, Günay Ç, Sarıkaya Uzan G, Yeşilmen MC, Lochmüller H, Horvath R, Yiş U, Oktay Y, Hiz Kurul S
Mol Syndromol, 14(4):322-330, 08 Mar 2023
Cited by: 0 articles | PMID: 37766827 | PMCID: PMC10521235
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Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study.
Günay Ç, Aykol D, Özsoy Ö, Sönmezler E, Hanci YS, Kara B, Akkoyunlu Sünnetçi D, Cine N, Deniz A, Özer T, Ölçülü CB, Yilmaz Ö, Kanmaz S, Yilmaz S, Tekgül H, Yildiz N, Acar Arslan E, Cansu A, Olgaç Dündar N, [...] Hiz Kurul S
Neuropediatrics, 54(4):225-238, 14 Feb 2023
Cited by: 0 articles | PMID: 36787800
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An in silico approach to the identification of diagnostic and prognostic markers in low-grade gliomas.
Özbek M, Toy HI, Oktay Y, Karakülah G, Suner A, Pavlopoulou A
PeerJ, 11:e15096, 16 Mar 2023
Cited by: 2 articles | PMID: 36945359 | PMCID: PMC10024901
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Associations Between Blood Levels of NLRP3 Inflammasome Components and Obsessive Compulsive Disorder.
Tetik M, Direk N, Uzgan BÖ, Aykaç C, Ekinci B, Yaraş T, Kuruoğlu A, Özel F, Ermiş Ç, Alkın T, Oktay Y
Noro Psikiyatr Ars, 60(1):28-36, 26 Feb 2023
Cited by: 1 article | PMID: 36911567 | PMCID: PMC9999221
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Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 Registry.
Pizzamiglio C, Pitceathly RDS, Lunn MP, Brady S, De Marchi F, Galan L, Heckmann JM, Horga A, Molnar MJ, Oliveira ASB, Pinto WBVR, Primiano G, Santos E, Schoser B, Servidei S, Sgobbi Souza PV, Venugopalan V, Hanna MG, Dimachkie MM, [...] Neuromuscular Diseases and COVID-19 Study Group
Eur J Neurol, 30(2):399-412, 18 Nov 2022
Cited by: 1 article | PMID: 36303290 | PMCID: PMC9874570
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NLRP3 Inflammasome, NEK7 and Major Depressive Disorder
Ozel F, Ozturk BT, Yaras T, Ekinci B, Oktay Y, Alkin T, Aysevener EO, Direk N
medRxiv, 18 Jul 2022
Cited by: 0 articles | PPR: PPR520234
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Could lysosomal acid lipase enzyme activity be used for clinical follow-up in cryptogenic cirrhosis?
Köse E, Çağatay E, Yaraş T, Kısa PT, Güler S, Gülten ZA, Akarsu M, Oktay Y, Kayalı HA, Arslan N
Turk J Med Sci, 52(4):1075-1084, 10 Aug 2022
Cited by: 0 articles | PMID: 36326406 | PMCID: PMC10387917
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Whole Genome Analysis of Dizygotic Twins With Autism Reveals Prevalent Transposon Insertion Within Neuronal Regulatory Elements: Potential Implications for Disease Etiology and Clinical Assessment.
Okay K, Varış PÜ, Miral S, Pavlopoulou A, Oktay Y, Karakülah G
J Autism Dev Disord, 53(3):1091-1106, 27 Jun 2022
Cited by: 1 article | PMID: 35759154
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Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
Arlt A, Kohlschmidt N, Hentschel A, Bartels E, Groß C, Töpf A, Edem P, Szabo N, Sickmann A, Meyer N, Schara-Schmidt U, Lau J, Lochmüller H, Horvath R, Oktay Y, Roos A, Hiz S
Orphanet J Rare Dis, 17(1):29, 31 Jan 2022
Cited by: 2 articles | PMID: 35101074 | PMCID: PMC8802438
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Abdominal twitches due to ICD lead dislodgement; A case report.
Oktay YC, Ersoysal MR, Akgun B, Kus G, Arslan ED
Turk J Emerg Med, 22(1):44-46, 20 Jan 2022
Cited by: 0 articles | PMID: 35284693 | PMCID: PMC8862793
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High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S, Oktay Y, Töpf A, Szabó NZ, Güngör S, Yaramis A, Sonmezler E, Matalonga L, Yis U, Schon K, Paramonov I, Kalafatcilar İP, Gao F, Rieger A, Arslan N, Yilmaz E, Ekinci B, Edem PP, Aslan M, [...] Horvath R
Brain, 145(4):1507-1518, 01 May 2022
Cited by: 9 articles | PMID: 34791078 | PMCID: PMC9128813
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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, [...] Kruer MC
Am J Hum Genet, 108(10):2006-2016, 01 Oct 2021
Cited by: 11 articles | PMID: 34626583 | PMCID: PMC8546233
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Alternative splicing and gene co-expression network-based analysis of dizygotic twins with autism-spectrum disorder and their parents.
Okay K, Varış PÜ, Miral S, Ekinci B, Yaraş T, Karakülah G, Oktay Y
Genomics, 113(4):2561-2571, 02 Jun 2021
Cited by: 2 articles | PMID: 34087420
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Mutations and Copy Number Alterations in IDH Wild-Type Glioblastomas Are Shaped by Different Oncogenic Mechanisms.
Ülgen E, Karacan S, Gerlevik U, Can Ö, Bilguvar K, Oktay Y, B Akyerli C, K Yüksel Ş, E Danyeli A, Tihan T, Sezerman OU, Yakıcıer MC, Pamir MN, Özduman K
Biomedicines, 8(12):E574, 07 Dec 2020
Cited by: 4 articles | PMID: 33297360 | PMCID: PMC7762325
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Different selection dynamics of S and RdRp between SARS-CoV-2 genomes with and without the dominant mutations
Koçhan N, Eskier D, Suner A, Karakülah G, Oktay Y
medRxiv, 05 Jan 2021
Cited by: 0 articles | PPR: PPR261959
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1-25 of 54 results

1 2 3

Search life-sciences literature (45,104,145 articles, preprints and more)

Search results

tubg1 Somatic Mutants Show Tubulinopathy-Associated Neurodevelopmental Phenotypes in a Zebrafish Model.

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

Expressions of the satellite repeat HSAT5 and transposable elements are implicated in disease progression and survival in glioma.

A microdeletion event at 19q13.43 in IDH-mutant astrocytomas is strongly correlated with MYC overexpression.

Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.

Neuromuscular disease genetics in under-represented populations: increasing data diversity.

StemnesScoRe: an R package to estimate the stemness of glioma cancer cells at single-cell resolution.

Editorial: Mental health: cell models to mechanisms.

The Relationship Between Cardiovascular Disease Risk and Major Depression.

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.

DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature.

Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study.

An in silico approach to the identification of diagnostic and prognostic markers in low-grade gliomas.

Associations Between Blood Levels of NLRP3 Inflammasome Components and Obsessive Compulsive Disorder.

Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 Registry.

NLRP3 Inflammasome, NEK7 and Major Depressive Disorder

Could lysosomal acid lipase enzyme activity be used for clinical follow-up in cryptogenic cirrhosis?

Whole Genome Analysis of Dizygotic Twins With Autism Reveals Prevalent Transposon Insertion Within Neuronal Regulatory Elements: Potential Implications for Disease Etiology and Clinical Assessment.

Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.

Abdominal twitches due to ICD lead dislodgement; A case report.

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

Alternative splicing and gene co-expression network-based analysis of dizygotic twins with autism-spectrum disorder and their parents.

Mutations and Copy Number Alterations in IDH Wild-Type Glioblastomas Are Shaped by Different Oncogenic Mechanisms.

Different selection dynamics of S and RdRp between SARS-CoV-2 genomes with and without the dominant mutations

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