Kurum Yazarı "Doğan, Mustafa" PubMed İndeksli Yayınlar Koleksiyonu İçin Listeleme
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Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene
Doğan, Mustafa; Eröz, Recep; Öztürk, Emrah (Taylor & Francis, 2021)Purpose: The current study aims to raise awareness of Boucher - Neuhauser syndrome (BNHS) that occurs as a rare phenotype due to biallelic pathogenic variants in the PNPLA6 gene. Methods: Detailed family histories and ... -
Clinical and Molecular Findings in a Turkish Family Who Had a (c.869-1G>A) Splicing Variant in PSEN1 Gene with A Rare Condition: The Variant Alzheimer's Disease with Spastic Paraparesis
Doğan, Mustafa; Eröz, Recep; Tecellioğlu, Mehmet; Gezdirici, Alper; Çevik, Betül; Barış, İbrahim (Bentham Science, 2022)Background: Early-onset Alzheimer's disease (EOAD) is commonly diagnosed with an onset age of earlier than 65 years and accounts for 5–10% of all Alzheimer's disease (AD) cases. To date, although only 10-15% of familial ... -
Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity
Doğan, Mustafa; Eröz, Recep; Terali, Kerem; Gezdirici, Alper; Bolu, Semih (Springer, 2021)Mucolipidosis III gamma (ML III gamma) is a slowly progressive disorder that affects multiple parts of the body such as the skeleton, joints, and connective tissue structures. It is caused by pathogenic variants in the ... -
An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants
Gezdirici, Alper; Teralı, Kerem; Yılmaz Güleç, Elif; Bornaun, Helen; Doğan, Mustafa; Eröz, Recep (Springer, 2021)Marfan syndrome (MFS) is an autosomal dominant genetic condition that mainly affects connective tissue in many parts of the body. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. The diagnosis ...