Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region-Reference-Cited by-同舟云学术

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Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region

Published:2012-06 Issue:6-7 Volume:55 Page:400-403
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Shimojima Keiko,Mano Toshiyuki,Kashiwagi Mitsuru,Tanabe Takuya,Sugawara Midori,Okamoto Nobuhiko,Arai Hiroshi,Yamamoto Toshiyuki

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference9 articles.

1. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on brain dysmyelinating disease;Cailloux;Eur. J. Hum. Genet.,2000

2. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome;Carvalho;Nat. Genet.,2011

3. PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: identification of one partial triplication and two partial deletions of PLP1;Combes;Neurogenetics,2006

4. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2;Inoue;Neurogenetics,2005

5. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders;Lee;Cell,2007

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2. Overview of Neuro-Ophthalmic Findings in Leukodystrophies;Journal of Clinical Medicine;2024-08-28

3. Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci;Cell Genomics;2024-07

4. A unifying model that explains the origins of human inverted copy number variants;PLOS Genetics;2024-01-04

5. Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures;2023-10-03

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