نتایج جستجو برای: pmp22

تعداد نتایج: 356  

ژورنال: :فصلنامه علوم پزشکی دانشگاه آزاد اسلامی واحد پزشکی تهران 0
احمدرضا کامیاب ahmad reza kamyab student of msc, department of genetics, science and research campus, islamic azad university, tehran, iran ناصر مسروری naser masrouri msc of genetics, department of molecular medicine, pasteur institute of iran, tehran, iran مینا حیات نوسعید mina hayat-no saied msc of genetics, department of molecular medicine, pasteur institute of iran, tehran, iran سمیه جمالی somayeh jamali student of msc, department of biology, islamic azad university, tehran medical branch, tehran, iran مهرداد هاشمی mehrdad hashemi assistan professor, department of molecular genetics, islamic azad university, tehran medical branch, tehran, iran مرتضی کریمی پور morteza karimipour assistant professor, department of molecular medicine, pasteur institute of iran, tehran, iran غلام رضا جوادی

سابقه و هدف: پیشگیری از تولد بیماران مبتلا به سندرم داون (تریزومی 21) از اولویت های وزارت بهداشت می باشد. هدف این مطالعه، تشخیص سریع بیماران مبتلا به سندرم داون با استفاده از تکنیک real-time pcr کمی به منظور پایه گذاری روشی جدید برای تشخیص قبل از تولد است.روش بررسی: در این مطالعه تجربی، ابتدا از افراد مورد مطالعه نمونه خون گرفته شد. پس از استخراج dna ژنومی، میزان ژن dyrk1a2 در لنفوسیت های افراد...

2016
Li-Xi Li Shao-Yun Zhao Zhi-Jun Liu Wang Ni Hong-Fu Li Bao-Guo Xiao Zhi-Ying Wu

Charcot-Marie-Tooth (CMT) disease is the most common hereditary peripheral neuropathy. More than 50 causative genes have been identified. The lack of genotype-phenotype correlations in many CMT patients make it difficult to decide which genes are affected. Recently, targeted next-generation sequencing (NGS) has been introduced as an alternative approach for diagnosis of genetic disorders. Here,...

Journal: :Journal of neurology, neurosurgery, and psychiatry 2002
C M Gabriel N A Gregson N W Wood R A C Hughes

OBJECTIVES Fifty three patients were studied to investigate whether autoimmune or inflammatory mechanisms could explain the phenotypic heterogeneity of patients with hereditary motor and sensory neuropathy type 1a (HMSN1a). METHODS Serum samples were examined for antibodies to peripheral nerve myelin protein 22 (PMP22), ganglioside GM1 and cauda equina homogenate, and interleukin-6 (IL-6) and...

Journal: :Progress in neurobiology 2003
R C Melcangi I Azcoitia M Ballabio I Cavarretta L C Gonzalez E Leonelli V Magnaghi S Veiga L M Garcia-Segura

The process of aging deeply influences morphological and functional parameters of peripheral nerves. The observations summarized here indicate that the deterioration of myelin occurring in the peripheral nerves during aging may be explained by the fall of the levels of the major peripheral myelin proteins [e.g., glycoprotein Po (Po) and peripheral myelin protein 22 (PMP22)]. Neuroactive steroid...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید