Cargando…

Prenatal diagnosis of PLP1 duplication by single nucleotide polymorphism array in a family with Pelizaeus-Merzbacher disease

A family with a history of Pelizaeus-Merzbacher disease (PMD) received prenatal diagnosis of PLP1 gene duplication in a fetus using a single nucleotide polymorphism (SNP) array. A 27-year-old pregnant woman was referred for genetic counseling due to her four-year-old son being diagnosed with a suspe...

Descripción completa

Detalles Bibliográficos
Autores principales:	Xue, Huili, Yu, Aili, Chen, Xuemei, Lin, Na, Lin, Min, Huang, Hailong, Xu, Liangpu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Impact Journals 2021
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7835049/ https://www.ncbi.nlm.nih.gov/pubmed/33429367 http://dx.doi.org/10.18632/aging.202477

Ejemplares similares

The natural history of Pelizaeus–Merzbacher disease caused by PLP1 duplication: A multiyear case series
por: Trepanier, Angela M., et al.
Publicado: (2023)

Pelizaeus-Merzbacher Disease with PLP1 Exon 1 Duplication, Previously Misdiagnosed as Cerebral Palsy: a Case Report
por: Lee, Su Ji, et al.
Publicado: (2021)

Curcumin therapy in a Plp1 transgenic mouse model of Pelizaeus-Merzbacher disease
por: Epplen, Dirk B, et al.
Publicado: (2015)

Drug screening for Pelizaeus-Merzbacher disease by quantifying the total levels and membrane localization of PLP1
por: Kouga, Takeshi, et al.
Publicado: (2019)

Pelizaeus-Merzbacher disease in siblings
por: Mittal, Amit, et al.
Publicado: (2010)

Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge
por: Rogac, Mihael, et al.
Publicado: (2023)

Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease
por: Yamamoto-Shimojima, Keiko, et al.
Publicado: (2021)

A Patient With Pelizaeus-Merzbacher Disease Caused by a c.67G>A Mutation in the PLP1 Gene
por: Usman, Mohammad, et al.
Publicado: (2023)

Detection of copy number variation associated with ventriculomegaly in fetuses using single nucleotide polymorphism arrays
por: Xue, Huili, et al.
Publicado: (2021)

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
por: Lyahyai, Jaber, et al.
Publicado: (2018)

Involvement of ER Stress in Dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 Missense Mutations Shown by iPSC-Derived Oligodendrocytes
por: Numasawa-Kuroiwa, Yuko, et al.
Publicado: (2014)

Involvement of ER Stress in Dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 Missense Mutations Shown by iPSC-Derived Oligodendrocytes
por: Numasawa-Kuroiwa, Yuko, et al.
Publicado: (2015)

A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease
por: Lu, Yongping, et al.
Publicado: (2017)

Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease
por: Masliah-Planchon, Julien, et al.
Publicado: (2015)

Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
por: Lyahyai, Jaber, et al.
Publicado: (2018)

Suppression of proteolipid protein rescues Pelizaeus-Merzbacher disease
por: Elitt, Matthew S., et al.
Publicado: (2020)

Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease
por: Velasco Parra, Harvy Mauricio, et al.
Publicado: (2018)

A genetically proven case of Pelizaeus-Merzbacher disease: Clinicoradiological clues
por: Saini, Lokesh, et al.
Publicado: (2016)

Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus‐Merzbacher disease
por: Ruiz, Montserrat, et al.
Publicado: (2017)

Clinical Utility and the Yield of Single Nucleotide Polymorphism Array in Prenatal Diagnosis of Fetal Central Nervous System Abnormalities
por: Cai, Meiying, et al.
Publicado: (2021)

Demyelination and axonal preservation in a transgenic mouse model of Pelizaeus-Merzbacher disease
por: Edgar, Julia M, et al.
Publicado: (2010)

Pelizaeus–Merzbacher Disease: the First Genetically Approved Case Report from Iran
por: Ashrafi, Mahmoud-Reza, et al.
Publicado: (2011)

Potential for Cell-Mediated Immune Responses in Mouse Models of Pelizaeus-Merzbacher Disease
por: Southwood, Cherie M., et al.
Publicado: (2013)

New Mutation of Pelizaeus-Merzbacher-Like Disease; A Report from Iran
por: Karimzadeh, Parvaneh, et al.
Publicado: (2014)

Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease
por: Stumpf, Sina K., et al.
Publicado: (2019)

Prenatal diagnosis and molecular cytogenetic identification of small supernumerary marker chromosomes: analysis of three prenatal cases using chromosome microarray analysis
por: Xue, Huili, et al.
Publicado: (2020)

Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis
por: Najafi, Kimia, et al.
Publicado: (2017)

Cellular Pathology of Pelizaeus-Merzbacher Disease Involving Chaperones Associated with Endoplasmic Reticulum Stress
por: Inoue, Ken
Publicado: (2017)

Neural stem cells restore myelin in a demyelinating model of Pelizaeus-Merzbacher disease
por: Gruenenfelder, Fredrik I, et al.
Publicado: (2020)

Correction to: Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease
por: Stumpf, Sina K., et al.
Publicado: (2019)

Magnetic Resonance Imaging and Spectroscopy Analysis in a Pelizaeus–Merzbacher Disease Rat Model
por: Ishikawa, Maho, et al.
Publicado: (2022)

Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease
por: Elpidorou, Marilena, et al.
Publicado: (2022)

Identification of Proteolipid Protein 1 Gene Duplication by Multiplex Ligation-Dependent Probe Amplification: First Report of Genetically Confirmed Family of Pelizaeus-Merzbacher Disease in Korea
por: Kim, Sei Joo, et al.
Publicado: (2008)

Disrupted Proteolipid Protein Trafficking Results in Oligodendrocyte Apoptosis in an Animal Model of Pelizaeus-Merzbacher Disease
por: Gow, Alexander, et al.
Publicado: (1998)

Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene
por: Brender, Teva, et al.
Publicado: (2015)

Novel Mutations in NPC1 are Associated with Pelizaeus-Merzbacher-Like Disease: A Case Report
por: Fu, Hongling, et al.
Publicado: (2021)

Genotype–phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus–merzbacher disease
por: Duan, Ruoyu, et al.
Publicado: (2022)

Prenatal diagnosis of 22q11.2 copy number abnormalities in fetuses via single nucleotide polymorphism array
por: Cai, Meiying, et al.
Publicado: (2020)

Using single nucleotide polymorphism array for prenatal diagnosis in a large multicenter study in Southern China
por: Cai, Meiying, et al.
Publicado: (2023)

Anesthetic challenges and successful management of a child with Pelizaeus–Merzbacher disease using general and caudal anesthesia
por: Kapoor, Ravish, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_m52oo02v5dpn60hc87anrngn7j