Literature DB >> 10905899

Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;11.2) interrupting the PMP22 gene.

M Nadal, A Valiente, A Domènech, M Pritchard, X Estivill, M A Ramos-Arroyo.   

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Year:  2000        PMID： 10905899      PMCID： PMC1734578          DOI： 10.1136/jmg.37.5.396

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  3 in total

Review 1.  New evidence for secondary axonal degeneration in demyelinating neuropathies.

Authors:  Kathryn R Moss; Taylor S Bopp; Anna E Johnson; Ahmet Höke
Journal:  Neurosci Lett       Date:  2020-12-24       Impact factor: 3.046

2.  KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.

Authors:  María Moreno-Igoa; Blanca Hernández-Charro; Amaya Bengoa-Alonso; Aranzazu Pérez-Juana-del-Casal; Carlos Romero-Ibarra; Beatriz Nieva-Echebarria; María Antonia Ramos-Arroyo
Journal:  BMC Med Genet       Date:  2015-08-22       Impact factor: 2.103

Review 3.  Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.

Authors:  Anthony N Cutrupi; Megan H Brewer; Garth A Nicholson; Marina L Kennerson
Journal:  Mol Genet Genomic Med       Date:  2018-03-23       Impact factor: 2.183
  3 in total

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