Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis.

scientific article published on 04 January 2017

Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis. is …
instance of (P31):
case reportQ2782326
scholarly articleQ13442814

External links are
P356DOI10.1155/2017/2706098
P932PMC publication ID5241495
P698PubMed publication ID28133555

P50authorKimia NajafiQ89942304
P2093author name stringAriana Kariminejad
Masood Bazrgar
Roxana Kariminejad
Kaveh Hosseini
Azadeh Moshtagh
Neda Sadatian
Gole Maryam Abbassi
Mohamad Hassan Kariminejad
P2860cites workIndividual exons encode the integral membrane domains of human myelin proteolipid proteinQ24627399
Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)Q24643599
A simple salting out procedure for extracting DNA from human nucleated cellsQ27861086
PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2Q28300725
X-Linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patientsQ30632541
Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on BrainQ34389940
Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher diseaseQ35204565
A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCRQ35882905
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and femalesQ37203101
Connatal Pelizaeus-Merzbacher Disease with congenital stridor in two maternal cousinsQ41634403
Molecular findings in symptomatic and pre-symptomatic Alexander disease patientsQ48593828
X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course.Q50530035
Phenotypic variation in leukoencephalopathy with vanishing white matterQ77114396
Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvementQ77402205
Pelizaeus-Merzbacher diseaseQ78259690
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P304page(s)2706098
P577publication date2017-01-04
P1433published inCase reports in geneticsQ26842219
P1476titleFamilial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis
P478volume2017

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