Yazar "Göğüş, Başak" için listeleme
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A case of spastic paraplegia type 11 with a variation in the SPG11 gene
Elmas, Muhsin; Göğüş, Başak; Değirmenci, Banu; Solak, Mustafa; Gleeson, J.G. (Springer, 2020)Background: Spastic paraplegia 11 (SPG11) is defined as progressive spasticity and weakness of the lower limbs and also associated with mild intellectual disability with learning difficulties in childhood and/or progressive ... -
DOWN SENDROMLU OLGULARDA PRENATAL BULGULAR
Elmas, Muhsin; Çıkla, Cansu; Sözbilici, Enes Doğukan; Yarıktaş, İrem; Silay, Sefa; Kep, Oğuzhan; Bozteke, Sıdıka; Göğüş, Başak; Yıldırım, Ümit Can; Demirezen, Murat; Doğan, İsmet (Afyonkarahisar Sağlık Bilimleri Üniversitesi, 2021)AMAÇ: Yirmibirinci kromozomun 3 adet olması ile karakterizeolan Down Sendromu, Trizomi 21 olarak da bilinir. Down Sendromu 800 - 1200 kişide bir görülür. Sendrom ilk kez 1846’da tanımlanmıştır. Bu çalışmada amaç, kesin ... -
A family with mutation in DMD that inherited from gonadal mosaic mother
Göğüş, Başak; Elmas, Muhsin (SPRINGERNATURE, 2022)No Abstract Available -
Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing
Elmas, Muhsin; Göğüş, Başak; Kılıçarslan, Furkan; Bükülmez, Ayşegül; Solak, Mustafa (Georg Thieme Verlag Kg, 2021)Mucopolysaccharidosis type IIIB (Sanfilippo's B; OMIM no.: 252920) is a lysosomal storage disorder caused by defective degradation of heparan sulfate. The enzyme that has decreased function in this disease is alpha-N ... -
Neurodevelopment and Genetic Evaluation of Sotos Syndrome Cases with a Novel Mutation: a Single‑Center Experience
Elmas, Muhsin; Göğüş, Başak; Değirmenci, Banu; Gezdirici, Alper; Solak, Mustafa (Springer, 12.08.2021)Sotos syndrome is a non-progressive neurological disease with overgrowing, increased bone age, and developmental retardation. The aim of this study is to evaluate the prenatal, natal, and postnatal clinical fndings of ... -
The road from mutation to next generation phenotyping: contribution of deep learning technology (Face2Gene) to diagnosis neurofibromatosis type 1
Elmas, Muhsin; Göğüş, Başak (PRUSA MEDICAL PUBLISHING, 2022)Objectives: Genetics is one of the fastest growing medical fields in the last 10 years. While new analysis methods such as Next Generation Sequencing have been developed, the use of artificial intelligence like Face2Gene ... -
Spor eğitimi alan kişilerin eklem hipermobilitesi, yaşam kalitesi ve sosyodemografik verilerinin araştırılması: prospektif randomize kontrollü çalışma
Elmas, Muhsin; Göğüş, Başak; Topçuoğlu, Batuhan; Sav, Selin; Heybeli, Hatice; Yılmaz, Aybüke; Koçak, Batuhan; Karataş, Merve; Ocak, Yücel (Kocaeli Üniversitesi, 2020)Amaç: Benign eklem hipermobilitesi, eklemin normal genişleyebilme yetisinin artması olarak tanımlanmaktadır. Bu durum yaş, cinsiyet, etnik kökene göre değişiklik göstermektedir. Bu çalışmanın hipotezi olarak spor eğitimi ... -
Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience
Elmas, Muhsin; Göğüş, Başak (Karger, 2020)The diagnosis of rare genetic diseases is one of the most difficult areas in medicine. Whole-exome sequencing (WES) technology makes it easier to diagnose these diseases. In addition, next-generation phenotyping can help ... -
Tubulin-specific chaperone D (TBCD) geninde yeni bir mutasyon tespit edilen pebat sendromlu olgu
Elmas, Muhsin; Göğüş, Başak; Bükülmez, Ayşegül; Solak, Mustafa (Ayşe SURUÇ, 2022)Tubulinopatiler, tubulin izoformlarını kodlayan çeşitli genlerde meydana gelen mutasyonların sebep olduğu nörogelişimsel / nörodejeneratif hastalıklar ailesini tanımlamaktadır. Tubulin katlanmasına ve polimerizasyonuna ... -
Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review
Elmas, Muhsin; Göğüş, Başak; Solak, Mustafa (Sage Publications Ltd, 2020)INTRODUCTION: Cerebellar dysplasia with cysts (CDC) is an imaging finding which is typically seen with in individuals with dystroglycanopathy. One of the diseases causing this condition is "Poretti-Boltshauser Syndrome; ...
