نتایج جستجو برای: cmt1a

تعداد نتایج: 183  

Journal: :Journal of medical genetics 2001
S M Akrami R M Winter J D Brook J A Armour

EDITOR—Although point mutations are responsible for many genetic disorders, it is increasingly being appreciated that many disorders can be caused by deletion or duplication of DNA sequences. Alterations in DNA copy number are responsible for several categories of disorders and can range in scale from a chromosome or chromosomal region to just one exon of a single gene. For instance, duplicatio...

2014
Divpreet Kaur Aiesha Ahmed

Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disease characterized by recurrent mono-neuropathies precipitated by minor trauma or compression. We present a case of 17-year-old young man who presented with sudden onset of weakness, and numbness of proximal left upper extremity which plateaued in a few weeks. His electrodiagnostic studies showed chronic b...

2014
Alexandra Alemany-Schmidt Maria Navarro-Palou Adrià Voltes-Cobo Jordi Rosell Damià Heine-Suñer Antònia Picornell Maria Oliver-Bonet

Due to its role during meiosis, variations in the PRDM9 nucleotide sequence have been associated with different pathologies of meiotic origin: infertility (Irie et al. 2009), de novo genomic disorders (Berg et al. 2010; Borel et al. 2012), and childhood leukemogenesis (Hussin et al. 2013) (OMIM accession number: 609760). So far, alleles of the PRDM9 zinc finger array have been determined in stu...

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