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Molecular analysis of neurofibromin1 (NF1) gene in neurofibromatosis type 1 patients / Nahla Nagah Eldin Ibrahim Abdelaziz ; Supervised Mohammed A. Elghor , Yehia Z. Gad , Ghada Y. Elkamah

By: Contributor(s): Material type: TextTextLanguage: English Publication details: Cairo : Nahla Nagah Eldin Ibrahim Abdelaziz , 2021Description: 129 P. : charts , facsimiles ; 25cmOther title:
  • في المرضي المصابين بالنوع الأول للورم العصبي الليفي (NF1)التحليل الجزيئي جين نيوروفيبرومين1 [Added title page title]
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Dissertation note: Thesis (Ph.D.) - Cairo University - Faculty of Science - Department of Zoology Summary: Neurofibromatosis1 (NF1; OMIM# 162200) is a common autosomal dominant genetic disease [incidence: ~1:3500]. In 95% of cases, clinical diagnosis of the disease is based on the presence of at least two of the seven diagnostic criteria of National Institute of Health.The molecular pathology underlying this disorder entails mutation in the NF1 gene. The aim of this study was to investigate clinical and molecular characteristics of a cohort Egyptian NF1 patients.The current study included 35 clinically diagnosed NF1 patients descending from 25 unrelated families. Examination of NF1 gene was done through direct cDNA sequencing of NF1 gene and supplemented by NF1 multiple ligation dependent probe amplification (MLPA) analysis of leucocytic DNA. Mutations could be detected in 24 families (96%). Eight mutations (33%) were novel.This study illustrates the underlying molecular pathology among Egyptian NF1 patients for the first time. It also reports on 8 novel mutations which expands pathogenic mutational spectrum of the NF1 gene
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Item type Current library Home library Call number Copy number Status Date due Barcode
Thesis Thesis قاعة الرسائل الجامعية - الدور الاول المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.12.21.Ph.D.2021.Na.M (Browse shelf(Opens below)) Not for loan 01010110084136000
CD - Rom CD - Rom مخـــزن الرســائل الجـــامعية - البدروم المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.12.21.Ph.D.2021.Na.M (Browse shelf(Opens below)) 84136.CD Not for loan 01020110084136000

Thesis (Ph.D.) - Cairo University - Faculty of Science - Department of Zoology

Neurofibromatosis1 (NF1; OMIM# 162200) is a common autosomal dominant genetic disease [incidence: ~1:3500]. In 95% of cases, clinical diagnosis of the disease is based on the presence of at least two of the seven diagnostic criteria of National Institute of Health.The molecular pathology underlying this disorder entails mutation in the NF1 gene. The aim of this study was to investigate clinical and molecular characteristics of a cohort Egyptian NF1 patients.The current study included 35 clinically diagnosed NF1 patients descending from 25 unrelated families. Examination of NF1 gene was done through direct cDNA sequencing of NF1 gene and supplemented by NF1 multiple ligation dependent probe amplification (MLPA) analysis of leucocytic DNA. Mutations could be detected in 24 families (96%). Eight mutations (33%) were novel.This study illustrates the underlying molecular pathology among Egyptian NF1 patients for the first time. It also reports on 8 novel mutations which expands pathogenic mutational spectrum of the NF1 gene

Issued also as CD

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