Yazar "Akcakaya, Nihan Hande" için listeleme
-
Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity
Mercan, Sevcan; Akcakaya, Nihan Hande; Salman, Baris; Yapici, Zuhal; Ozbek, Ugur; Ugur Iseri, Sibel Aylin (Springer, 2023)Background Syndromic intellectual disability (ID) with accompanying primary microcephaly is a group of rare neurodevelopmental disorders exhibiting extreme genetic and clinical heterogeneity. This layered heterogeneity can ... -
Evaluation of the Obstetrical Brachial Plexus Injuries with Forensic Perspective
Akcakaya, Nihan Hande; Colak, Muhammed Selman; Sevin, Abdulvahap; Gurpinar, Kagan; Asliyuksek, Hizir; Orhan, Elif Kocasoy (Galenos Yayincilik, 2021)Aim: Obstetrical brachial plexopathy (OBP) is the loss of function of the brachial plexus due to a traumatic, idiopathic, or iatrogenic reason since birth. OBP mostly occurs with a traumatic background that is secondary ... -
IS HYPOXIA A CAUSE OR A CONSEQUENCE? THE MEDICO-LEGAL CONSIDERATIONS OF NEONATAL ENCEPHALOPATHY AND CEREBRAL PALSY
Silahli, Nicel Yildiz; Akcakaya, Nihan Hande; Asliyuksek, Hizir; Yilmaz, Muhammed Emre; Madazli, Riza; Celkan, Tulin Tiraje (Romanian Legal Med Soc, 2022)Neonatal encephalopathy (NE) occurs in the first month after birth of infants and progresses with seizures, respiratory depression and hypotonia. NE is multifactorial, however hypoxia is the first considered cause. Our ... -
<p>Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1</p>
Takahashi, Taiko; Mercan, Sevcan; Sassa, Takayuki; Akcapinar, Gunseli Bayram; Yararbas, Kanay; Susgun, Seda; Akcakaya, Nihan Hande (Elsevier, 2022)Introduction: Next generation sequencing technologies allow detection of very rare pathogenic gene variants and uncover cerebral palsy. Herein, we describe two siblings with cerebral palsy due to ELOVL1 splice site mutation ... -
Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up
Mercan, Sevcan; Iseri, Sibel Aylin Ugur; Yigiter, Remzi; Akcakaya, Nihan Hande; Saka, Esen; Yapici, Zuhal (Routledge Journals, Taylor & Francis Ltd, 2022)Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurological disease with childhood or adult onset. It is a subtype of clinically and genetically heterogeneous group of disorders, collectively ...
