Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Sevgi Yimenicioglu"'
Publikováno v:
The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, Vol 59, Iss 1, Pp 1-6 (2023)
Abstract Background Wolfram syndrome is due to a mutation of the WFS1 gene that codes for the transmembrane protein wolframin. This protein is located in the endoplasmic reticulum and is expressed at higher concentrations in the beta cells of pancrea
Externí odkaz:
https://doaj.org/article/484b5aeee7fb45789317a32cb5760d27
Autor:
Ayca Kocaaga, Sevgi Yimenicioglu
Publikováno v:
Global Medical Genetics, Vol 09, Iss 02, Pp 179-181 (2022)
The frequency of 18p deletion syndrome is estimated to be ∼1/50,000 live births and is more commonly associated with certain clinical features including short stature, intellectual disability, and facial dysmorphism. Physical examination of our pat
Externí odkaz:
https://doaj.org/article/f957e51911a942809aabbf0d1f7ae013
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-6 (2021)
Abstract Background Anorectal malformations (ARM) represent a wide spectrum of defects. Caudal and genitourinary malformations can associate with anorectal malformations. Genetic factors may play role in the development of anorectal malformations. Pe
Externí odkaz:
https://doaj.org/article/2743ddb97e114035a0ac85d8479d10d4
Publikováno v:
Indian Journal of Ophthalmology, Vol 70, Iss 7, Pp 2762-2764 (2022)
Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is an extremely rare autosomal dominant disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, hearing loss, and optic nerve atrophy. This syndrome is cau
Externí odkaz:
https://doaj.org/article/de5e859287604940a38ef5b9d15d0eba
Autor:
Kursat Bora Carman, Mustafa Calik, Yasemin Karal, Sedat Isikay, Ozan Kocak, Aysima Ozcelik, Ahmet Sami Yazar, Cagatay Nuhoglu, Cigdem Sag, Omer Kilic, Meltem Dinleyici, Sibel Lacinel Gurlevik, Sevgi Yimenicioglu, Arzu Ekici, Peren Perk, Ayse Tosun, Ilhan Isik, Coskun Yarar, Didem Arslantas, Ener Cagri Dinleyici
Publikováno v:
Human Vaccines & Immunotherapeutics, Vol 15, Iss 2, Pp 496-502 (2019)
Background: Febrile seizure is the most common childhood neurological disorder, is an important health problem with potential short- and long-term complications, also leading to economic burden and increased parental anxiety about fevers and seizures
Externí odkaz:
https://doaj.org/article/4d4b6bfa11c349df8e837a9ede679949
Publikováno v:
Journal of Pediatric Nursing. 70:103-110
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a31cec122e66aaa951cbab8aad765eec
https://doi.org/10.1016/j.pedn.2023.02.010
https://doi.org/10.1016/j.pedn.2023.02.010
Autor:
Ayca Kocaaga, Sevgi Yimenicioglu
Publikováno v:
Neurology Asia. 28:227-231
Coffin-Lowry syndrome (CLS), usually a result of loss-of-function mutations in the RPS6KA3 gene located at Xp22.2, is a very rare genetic condition. It is associated with different phenotypes, including dysmorphic facial features, neuro-developmental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f55de0f1dff7ddedb017222ed8ecdb46
https://doi.org/10.54029/2023jyx
https://doi.org/10.54029/2023jyx
Publikováno v:
Molecular Biology Reports. 50:1367-1373
The genetics of hereditary ataxia (HA) are complex and multigenic. The diversity of genes that cause ataxia varies considerably between populations. We aimed to investigate the clinical, neuroimaging, and genetic findings of HA in children from a ter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f05f0f9fc2fd7c6701aa415563419bd
https://doi.org/10.1007/s11033-022-08148-9
https://doi.org/10.1007/s11033-022-08148-9
Autor:
Ayca Kocaaga, Sevgi Yimenicioglu
Publikováno v:
Neurology Asia. 27:807-811
Autosomal recessive primary microcephaly is a rare neurodevelopmental disorder that results in severe microcephaly, reduction of brain volume, and mental retardation. Mutations in MCPH1, which encodes the protein microcephalin, have been detected in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c80092c12d9b9b0cd98fcd6e5c62337f
https://doi.org/10.54029/2022vtk
https://doi.org/10.54029/2022vtk
Autor:
Sevgi Yimenicioglu, Arzu Ekici
Publikováno v:
Journal of Pediatric Infectious Diseases. 17:163-169
Objective The symptoms of coronavirus disease 2019 (COVID-19) in children with pre-existing neurological disease are unknown. We aimed to find out the difference in the symptoms of children with pre-existing neurological disease and those without. Me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a8a97d0a84578c87c405d3c50b1b0ba7
https://doi.org/10.1055/s-0042-1748921
https://doi.org/10.1055/s-0042-1748921