Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Muhsin, Elmas"'
Publikováno v:
Selcuk Dental Journal, Vol 10, Iss 4, Pp 332-337 (2023)
Weill-Marchesani syndrome (WMS, OMIM# 227600) is a genetically determined, rare systemic connective tissue disorder. The syndrome is divided into four types according to mutations in related genes. Given the limited number of individuals with WMS in
Externí odkaz:
https://doaj.org/article/d88bc39d80644cdc9f01016edf3078f6
Autor:
Saliha Handan Yildiz, Cem Karaosmanoğlu, Rahmi Duman, Nuray Varol, Müjgan Özdemir Erdoğan, Mustafa Solak, Reşat Duman, Muhsin Elmas
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-8 (2023)
Abstract Background The human lens develops age-related cataracts (ARCs) because of the complicated effects of aging and stressful conditions. Under conditions involving oxidative stress, cells form stress granules (SGs). TDRD7 has been identified as
Externí odkaz:
https://doaj.org/article/987f359874d3420da439e51832492c37
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 5, Iss 2, Pp 043-047 (2022)
Background: The "autosomal recessive congenital ichthyosis (ARCI)" refers to a group of rare, heterogeneous, and non-syndromic disorders of keratinization, represented as abnormal scales over the entire body and attributable to defective epidermal ke
Externí odkaz:
https://doaj.org/article/293472d777d74f73b3b38190a587fa37
Autor:
Leyla Eryiğit Eroğul, Ayça Nur Demir, Hamidu Hamisi Gobeka, Mustafa Doğan, Muhsin Elmas, Özgür Eroğul
Publikováno v:
Journal of Contemporary Medicine, Vol 12, Iss 5, Pp 749-756 (2022)
Background: The aim of this study was to evaluate the most common underlying genetic and clinical etiologies of retinitis pigmentosa (RP) disease in our geographical area. Material and Method: In our archive, there are about 3000 patients who applied
Externí odkaz:
https://doaj.org/article/a00a70e30ec1422e8c88388d1567fe73
Autor:
Saliha Handan Yildiz, Cem Karaosmanoğlu, Rahmi Duman, Nuray Varol, Müjgan Özdemir Erdoğan, Mustafa Solak, Reşat Duman, Muhsin Elmas
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-2 (2023)
Externí odkaz:
https://doaj.org/article/c72c1af6064948cb89e1fa7f5c3ce53f
Autor:
Muhsin Elmas, Umit Can Yildirim
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 3, Iss 2, Pp 54-59 (2020)
Background: Macrocephaly is a condition where the head circumference is larger than the 97th percentile or 2 standard deviations. It can be a harmless trait in benign familial macrocephaly or can be seen as a component of some pathologic condition. I
Externí odkaz:
https://doaj.org/article/815ab002a6814828802eaf1934868f2b
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-5 (2020)
Abstract Background Spastic paraplegia 11 (SPG11) is defined as progressive spasticity and weakness of the lower limbs and also associated with mild intellectual disability with learning difficulties in childhood and/or progressive cognitive retardat
Externí odkaz:
https://doaj.org/article/49a34e603f9742598b37495aa9c3cdf3
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 3, Iss 1, Pp 3-6 (2020)
Background: Multiple sclerosis (MS) is a demyelinating disease in which the insulating covers of nerve cells in the brain and spinal cord are damaged. In this study, we investigated the possible association of vitamin D levels and rs703842 in the CYP
Externí odkaz:
https://doaj.org/article/384235be5f9b4635b0e160d3302cada4
Autor:
Muhsin Elmas, Umit Can Yildirim, Dilek Cavusoglu, Evrim Gurhan Tahta, Ebru Elmas, Tolga Altug Sen, Aysegul Bukulmez
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 3, Iss 1, Pp 41-44 (2020)
Background: Genetic disorders are enormously diverse both in terms of genotype and phenotype. Each case requires a careful and cautious investigation. Case Presentation: In this paper, we report two siblings who were admitted to our clinic with vario
Externí odkaz:
https://doaj.org/article/848aab8cbb474102be3fa239fd02249c
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 2, Iss 2, Pp 143-146 (2019)
Background: The congenital muscular dystrophies (CMD) are a group of heterogeneous diseases, manifested with a wide variety of clinical findings. Dystroglycanopathy is regarded as a subgroup among the CMD group of diseases. POMT1 mutations that cause
Externí odkaz:
https://doaj.org/article/c79ee4479d754f93a0b96f0e1ef45767