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Toplam kayıt 8, listelenen: 1-8
Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review
(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; ...
A case of spastic paraplegia type 11 with a variation in the SPG11 gene
(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 ...
Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience
(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 ...
Investigation of clinical and genetic data of pectus excavatum in dysmorphological children: a single-center experience
(Turkish Society of Thoracic Surgery, 2020)
Background: Pectus excavatum (PE) is one of the most common chest wall deformations. However,
the pathogenesis of the disease is not completely understood and the results of the researches remain
inconsistent. There are ...
DOWN SENDROMLU OLGULARDA PRENATAL BULGULAR
(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 ...
AFYONKARAHİSAR BÖLGESİNDE AİLESEL AKDENİZ ATEŞLİ ÇOCUKLARIN DEMOGRAFİK, KLİNİK, LABORATUVAR VE GENETİK ÖZELLİKLERİNİN DEĞERLENDİRİLMESİ
(Afyonkarahisar Sağlık Bilimleri Üniversitesi, 2021)
AMAÇ: Ailesel Akdeniz Ateşi (AAA), tekrarlayan, çoğu kez ateş
yüksekliğinin eşlik ettiği periton, sinovya, plevra ve nadiren de
perikardın tutulduğu ve kendi kendine iyileşen akut inflamasyon atakları ile ortaya çıkan ...
Miyotonik Distrofi Hastalarının CTG Tekrar Sayıları ile Genotip ve Klinik Bulguların Değerlendirilmesi: Tek Merkez Deneyimi-Olgu Serisi
(Türkiye Klinikleri, 2021)
Amaç: Miyotonik distrofi hastalığı (MD), otozomal dominant genetik geçiş özelliği gösteren, motor, psikiyatrik ve bilişsel içerikli klinik bulgularla karakterize, CTG tekrar dizisi artışıyla ilerleyici nörodejeneratif bir ...
Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing
(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 ...