Výsledky vyhledávání - "Pelin Ozyavuz Cubuk"

Akademický článek

Evaluation of Laboratory Findings, Clinical Features and Rates of Diagnosis of Patients Admitted to Outpatient Clinic of Pediatric Neurology with Neuromuscular Manifestations

Autor: Tuğçe Aksu Uzunhan, Biray Ertürk, Pelin Özyavuz Çubuk, Bülent Uyanık, Akif Ayaz, Onur Akan, Taha Reşid Özdemir

Publikováno v: Journal of Behçet Uz Children's Hospital, Vol 10, Iss 2, Pp 127-135 (2020)

INTRODUCTION: Our aim is to evaluate how many patients with neuromuscular manifestations get a definite diagnosis and which methods are used in the pathway to diagnosis as well as to assess patient characteristics. METHODS: Patients aged 0-18 years o

Externí odkaz: https://doaj.org/article/6b1f1df915ae43d9b4dd617703a28fe2

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Goldberg-Shprintzen Syndrome Associated with a Novel Variant in the KIFBPGene

Autor: Pelin Ozyavuz Cubuk

Publikováno v: Molecular Syndromology. 12:240-243

Goldberg-Shprintzen syndrome (GOSHS) is characterized by microcephaly, developmental delay, dysmorphic features, Hirschsprung disease (HSCR), and brain anomalies. The kinesin family binding protein (KIFBP; MIM 60937) gene has been identified as the r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a0abbb444b93a755c8d25e9bdc5e35ab
https://doi.org/10.1159/000514531

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Analysis of rearrangements of the CFTR gene in patients from Turkey with CFTR-related disorders: frequent exon 2 deletion

Autor: Mehmet Bugrahan Duz, Pelin Ozyavuz Cubuk

Publikováno v: Journal of human genetics. 66(3)

Cystic fibrosis is a hereditary disease that mostly affects the sweat glands, respiratory system, digestive system, and reproductive system. Many and various types of mutations have been reported in CFTR in different ethnicities and countries/regions

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bf7381191da612c37285557f4aa68af
https://pubmed.ncbi.nlm.nih.gov/33093640

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Smith-magenis syndrome: Clues in the clinic

Autor: Pelin Ozyavuz Cubuk, Nejmiye Akkus, Betül Kılıç

Publikováno v: J Pediatr Genet

As a multisystemic congenital mental retardation disorder/anomaly, Smith–Magenis syndrome (SMS) is commonly aroused from de novo interstitial deletion of the 17p11.2 chromosome. The deletion of this chromosome results with haploinsufficiency for th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5881a0422eeab920fd1a9190f4211469
https://hdl.handle.net/20.500.12511/5975

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Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease

Autor: Pelin Ozyavuz Cubuk, Mehmet Bugrahan Duz

Publikováno v: European Journal of Medical Genetics. 64:104343

Acrocapitofemoral dysplasia (ACFD) is a rare autosomal recessive skeletal dysplasia characterized by short stature with short limb dwarfism, brachydactyly, and a narrow thorax. Major radiographic features are egg-shaped capital femoral epiphyses with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cf97d48208287be0b53493259456abc
https://doi.org/10.1016/j.ejmg.2021.104343

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A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome

Autor: Şükrü Nail Güner, Pelin Ozyavuz Cubuk, Mehmet Halil Çeliksoy, Alisan Yildiran

WOS: 000448391200014 PubMed: 29620677 Ataxia-telangiectasia (A-T) is a multisystem disease caused by a genetic defect located on the long arm of chromosome 11 (11p22-23). The gene defect results in the loss of A-T-mutated protein, subsequently leadin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4dc97cfcf352889c08b57c6ab3e4953
https://hdl.handle.net/20.500.12712/11349

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