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Clinical Genetics, ISSN 0009-9163, 02/2013, Volume 83, Issue 2, pp. 169 - 174
Journal Article
Journal Article
Pulmonary Pharmacology & Therapeutics, ISSN 1094-5539, 2014, Volume 30, pp. 22 - 31
Journal Article
Journal Article
Brain & Development, ISSN 0387-7604, 2009, Volume 32, Issue 3, pp. 171 - 179
Abstract Pelizaeus–Merzbacher disease (PMD; MIM#312080) is a rare X-linked recessive neurodegenerative disorder. The main cause of PMD is alterations in the... 
Neurology | Fluorescence in situ hybridization (FISH) | Pelizaeus–Merzbacher disease (PMD) | Proteolipid protein 1 ( PLP1) | Fiber-FISH | Array-based comparative genomic hybridization (aCGH) | Pelizaeus-Merzbacher disease (PMD) | Proteolipid protein 1 (PLP1) | GENOTYPE-PHENOTYPE CORRELATION | DIAGNOSIS | PROTEOLIPID PROTEIN GENE | MECHANISM | DISORDERS | CLINICAL NEUROLOGY | INTERPHASE FISH | COPY NUMBER | COMPARATIVE GENOMIC HYBRIDIZATION | MAJOR CAUSE | Genes, Duplicate - genetics | Humans | Child, Preschool | Magnetic Resonance Imaging - methods | Infant | Male | Brain - abnormalities | Young Adult | Pelizaeus-Merzbacher Disease - pathology | Child | Nystagmus, Pathologic - pathology | Diagnosis, Differential | Genetic Predisposition to Disease | Pelizaeus-Merzbacher Disease - genetics | Oligonucleotide Array Sequence Analysis - methods | Brain - physiopathology | Genetic Association Studies - methods | Gene Expression Profiling - methods | Comparative Genomic Hybridization - methods | Nystagmus, Pathologic - physiopathology | Mutation - genetics | Myelin Proteolipid Protein - genetics | Adolescent | Brain - pathology | In Situ Hybridization, Fluorescence - methods | Medical colleges | Nervous system diseases | Care and treatment | Gene mutations | Epilepsy | Genetic research | Fluorescence | Cytogenetics | Genetic aspects | Diagnostic imaging | Index Medicus
Journal Article
Brain & Development, ISSN 0387-7604, 2015, Volume 38, Issue 6, pp. 571 - 580
Journal Article
by Regis and Biancheri and Bertini and Burlina and Lualdi and Bianco and Devescovi and Rossi and Uziel and Filocamo
Clinical Genetics, ISSN 0009-9163, 03/2008, Volume 73, Issue 3, pp. 279 - 287
Regis S, Biancheri R, Bertini E, Burlina A, Lualdi S, Bianco MG, Devescovi R, Rossi A, Uziel G, Filocamo M. Genotype-phenotype correlation in five... 
low copy repeats | Pelizaeus-Merzbacher disease | gene duplication | PLP1 | real-time PCR
Journal Article
Journal Article