Zobrazeno 1 - 10
of 21
pro vyhledávání: '"genotip-fenotip"'
Autor:
S. Hande ÇAĞLAYAN
Publikováno v:
Archives of Epilepsy, Vol 24, Iss 1, Pp 1-7 (2018)
Lafora Disease (LD) is a fatal neurodegenerative condition characterized by the accumulation of abnormal glycogen inclusions known as Lafora bodies (LBs). Patients with LD manifest myoclonus and tonic-clonic seizures, visual hallucinations, and progr
Externí odkaz:
https://doaj.org/article/fbb3803ddff24942ad495cff48ee38ca
Publikováno v:
Genes; Volume 13; Issue 1; Pages: 55
Genes, Vol 13, Iss 55, p 55 (2022)
Genes
Genes, vol. 13, no. 1, 55, 2022.
Genes, Vol 13, Iss 55, p 55 (2022)
Genes
Genes, vol. 13, no. 1, 55, 2022.
Central serous chorioretinopathy (CSC) is a chorioretinal disease that usually affects the middle-aged population and is characterised by a thickened choroid, retinal pigment epithelium detachment, and subretinal fluid with a tendency towards spontan
Autor:
Sošić, Zlata
Geni su nasljedne jedinice koje potomci nasljeđuju od svojih roditelja. Mutacijom gena u spolnim stanicama nastaju nasljedne promjene koje roditelji prenose na svoju djecu. Spolni geni X kromosoma mogu biti dominantni ili recesivni te se nasljeđuju
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::d8f0342e2d97e1be525f3154c6483490
https://www.bib.irb.hr/1169215
https://www.bib.irb.hr/1169215
Autor:
Ekinci, İlksen Berfin
Cystic fibrosis, the most common autosomal recessive disease, is caused by mutations in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene. In addition to CFTR mutations, modifier genes and environmental factors play a role in disease severity.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______4268::79379855c07f1e8459111f6d671c17ee
http://hdl.handle.net/11655/22248
http://hdl.handle.net/11655/22248
Autor:
Atçeken, Nazente
Astım, çocukluk çağının en sık görülen inflamatuar hastalığıdır. Astımın gelişiminde genetik, çevresel risk faktörleri ve epigenetik mekanizmalar birlikte rol oynamaktadır. Bu çalışmada GWAS (Genom Çapı İlişkilendirme Çalı
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______4866::ce896736e3d0be03e8a77c8d14c474aa
https://hdl.handle.net/20.500.12451/8009
https://hdl.handle.net/20.500.12451/8009
Autor:
Skakić, Anita
Publikováno v:
Универзитет у Београду
Bolesti koje nastaju usled naslednog enzimskog poremećaja u sintezi ili razgradnji glikogena i koje primarno pogađaju jetru i bubrege, nazivaju se hepatične glikogenoze. Glikogenoza tip I (GSD tip I) je jedan od najčešćih oblika i zauzima poseb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dae322e81bb0f346974762d7154d86b
Sve mutacije opisane u ovom istraživanju su blagog fenotipa po Mahidol thalassemia severity score indeksu i bez daljnje progresije bolesti. U ovoj skupini pacijenata nismo pronašli mutacije beta globinskog gena klinički izraženijeg fenotipa. Nuž
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::2bbad6e91a039882b32e787de5ef6bb3
https://www.bib.irb.hr/999264
https://www.bib.irb.hr/999264
Autor:
Milačić, Iva D.
Publikováno v:
Универзитет у Београду
Kongenitalna adrenalna hiperplazija (KAH) obuhvata grupu autozomno recesivnih oboljenja okarakterisanih narušenom sintezom steroidnih hormona u kori nadbubreţne ţlezde i širokim spektrom kliniĉkih simptoma. Na osnovu fenotipske ekspresije razlik
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=nardusnacion::e3723f136867f27b6de845a52068e3bc
https://nardus.mpn.gov.rs/handle/123456789/8960
https://nardus.mpn.gov.rs/handle/123456789/8960
Publikováno v:
Volume: 9, Issue: 3 171-175
Türkiye Çocuk Hastalıkları Dergisi
Türkiye Çocuk Hastalıkları Dergisi
Amaç: Çalışmada “Ailevi Akdeniz Ateşi (AAA)” tanısı olan çocuk hastaların demografik, klinik ve laboratuvar özelliklerinin incelenmesi ve ayrıca gen mutasyonlarının hastalık ağırlık skorlaması üzerine etkisinin araştırılmas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=tubitakulakb::34b7e4a36a6751e0d9a9024b7f818182
https://dergipark.org.tr/tr/pub/tchd/issue/44341/548027
https://dergipark.org.tr/tr/pub/tchd/issue/44341/548027
Autor:
Klaassen, Kristel M.
Publikováno v:
Универзитет у Београду
Hiperfenilalaninemija (HPA) predstavlja najčešći nasledni poremećaj metabolizma aminokiselina (učestalost 1:10 000) koji se karakteriše povišenim nivoom fenilalanina u krvi. Višak fenilalanina ima toksičan efekat na razvoj mozga, i ukoliko s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=nardusnacion::8addc776c49cc28032cf7e0726acca6c
https://nardus.mpn.gov.rs/bitstream/id/2935/Disertacija636.pdf
https://nardus.mpn.gov.rs/bitstream/id/2935/Disertacija636.pdf