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Publications by CMB Carvalho
Evidence for Disease Penetrance Relating to CNV Size: Pelizaeus-Merzbacher Disease and Manifesting Carriers With a Familial 11 Mb Duplication at Xq22
Clinical Genetics
Genetics
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Pelizaeus Merzbacher Disease: Dysmyelination Versus Demyelination
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The Unfolded Protein Response Modulates Disease Severity in Pelizaeus-Merzbacher Disease
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Mutations in RARS Cause a Hypomyelination Disorder Akin to Pelizaeus–Merzbacher Disease
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PLP1 Gene Duplication Causes Overexpression and Alteration of the PLP/DM20 Splicing Balance in Fibroblasts From Pelizaeus–Merzbacher Disease Patients
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Familial Mutation in Caffey Disease With Reduced Penetrance: A Case Report
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Molecular Evidence for Non-Penetrance in Best's Disease.
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Depletion of Molecular Chaperones From the Endoplasmic Reticulum and Fragmentation of the Golgi Apparatus Associated With Pathogenesis in Pelizaeus-Merzbacher Disease
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Expanded Spectrum of Pelizaeus–Merzbacher-Like Disease: Literature Revision and Description of a Novel GJC2 Mutation in an Unusually Severe Form
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Holoprosencephaly and Preaxial Polydactyly Associated With a 1.24 Mb Duplication Encompassing FBXW11 at 5q35.1
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