Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Mikail Demir"'
Publikováno v:
JCRPE, Vol 15, Iss 4, Pp 426-430 (2023)
Neonatal diabetes and congenital hypothyroidism (CH) syndrome is a rare condition caused by homozygous or compound heterozygous mutations in the GLIS3 gene. Small for gestational age, congenital glaucoma, polycystic kidney disease, cholestatic hepati
Externí odkaz:
https://doaj.org/article/df0e55a39b4b4e4cb8c98c31de1ace13
Autor:
Kursad Unluhizarci, Burak Ozbas, Mikail Demir, Huseyin Dursun, Izem Sahin, Aysa Hacioglu, Zuleyha Karaca, Munis Dundar
Publikováno v:
Endocrine, Metabolic & Immune Disorders - Drug Targets. 23:721-726
Background: 11β hydroxylase deficiency (11βOHD) ranks as the second most common enzyme deficiency that causes congenital adrenal hyperplasia. Depending on the severity of the enzyme deficiency, it can lead to cortisol deficiency, androgen excess an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::12e74601f4729325f6d16f987ea174fd
https://doi.org/10.2174/1871530322666221007145410
https://doi.org/10.2174/1871530322666221007145410
Autor:
Emine Karatas, Mikail Demir, Firat Ozcelik, Leyla Kara, Esra Akyurek, Ugur Berber, Nihal Hatipoglu, Yusuf Ozkul, Munis Dundar
Publikováno v:
Molecular Syndromology. 14:123-128
Introduction: Aggrecanopathies are rare disorders associated with idiopathic short stature. They are caused by pathogenic changes in the ACAN gene located on chromosome 15q26. In this study, we present a case of short stature caused by mutations in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::91e380e7d522425c0c356ed9b8bfdad3
https://doi.org/10.1159/000526166
https://doi.org/10.1159/000526166
Autor:
Mustafa Yakubi, Dilek Cicek, Mikail Demir, Abdulbaki Yildirim, Nihal Hatipoglu, Yusuf Ozkul, Munis Dundar
Publikováno v:
Intractable Rare Dis Res
© 2022 International Advancement Center for Medicine and Health Research. All rights reserved.Alstrom syndrome (AS) is a rare autosomal recessive monogenic disorder caused by mutations of the Alstrom syndrome 1 (ALMS1) gene, located on chromosome 2p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6859e9259ff33cf2767074eb8ea11e32
https://doi.org/10.5582/irdr.2022.01024
https://doi.org/10.5582/irdr.2022.01024
Autor:
Selcan Öztürk, Ayten Güleç, Murat Erdoğan, Mikail Demir, Mehmet Canpolat, Hakan Gümüş, Ahmet Okay Çağlayan, Munis Dündar, Hüseyin Per
Publikováno v:
Pediatric neurology. 136
© 2022 Elsevier Inc.Background: Congenital myasthenic syndromes (CMS) are composed of numerous hereditary disorders involving genetic mutations in proteins essential to the integrity of neuromuscular transmission. The symptoms of CMS vary according
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b1282c8d0617497c528e4e279ab5886
https://pubmed.ncbi.nlm.nih.gov/36099689
https://pubmed.ncbi.nlm.nih.gov/36099689
Publikováno v:
Journal of clinical research in pediatric endocrinology.
Neonatal diabetes and congenital hypothyroidism syndrome (NDH) is a rare condition caused by homozygous or compound heterozygous mutations in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::309e537372fe9fe8bcb96c1b94d0027e
https://pubmed.ncbi.nlm.nih.gov/35410112
https://pubmed.ncbi.nlm.nih.gov/35410112
Autor:
Nilgun Karasu, Hamit Acer, Hilal Akalin, Mikail Demir, Izem Olcay Sahin, Nuriye Gokce, Ayten Gulec, Asli Ciplakligil, Ayse Caglar Sarilar, Isa Cuce, Hakan Gumus, Huseyin Per, Mehmet Canpolat, Munis Dundar
SMA (spinal muscular atrophy) is an autosomal recessive neuromuscular disease that causes muscle atrophy and weakness. SMA is diagnosed by homozygous deletion in exon 7 of the SMN1 gene. However, mutations in other genes in the SMA region may contrib
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f9a4fb5184ae8c68b181b6881a5e87eb
https://doi.org/10.21203/rs.3.rs-1442537/v1
https://doi.org/10.21203/rs.3.rs-1442537/v1
Autor:
Hilal Akalin, Abdulbaki Yildirim, Munis Dundar, Nilgun Karasu, Mikail Demir, Hande Kulak, Muzaffer Keklik, Serhat Çelik, Nuriye Gokce
Publikováno v:
Medical Oncology. 38
Imatinib mesylate, a tyrosine kinase inhibitor, is the first choice in chronic myeloid leukemia treatment. However, resistance to imatinib may develop with time and in some cases, patients may not respond at all to imatinib. Progressive resistance to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13596c162778eb670611ab32984aa5a7
https://doi.org/10.1007/s12032-021-01571-1
https://doi.org/10.1007/s12032-021-01571-1