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Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts.
TLDR
It is reported that the retroviral-mediated transfer of the ALD cDNA restored very-long-chain fatty acid oxidation in ALD fibroblasts in vitro following abundant expression and appropriate targeting of the vector-encoded ALDP in peroxisomes.
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LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients
TLDR
The molecular study of 26 patients with clinical presentation, magnetic resonance imaging and/or laminin‐α2 expression in muscle, compatible with MDC1A reveals the first fully characterized gross deletion in the LAMA2 gene, encompassing exon 56 (c.7750‐1713_7899‐2153del), detected in 31% of the patients.
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X-linked adrenoleukodystrophy in patients with idiopathic addison disease
TLDR
The proportion of ALD in patients presenting primary adrenal insufficiency has been underestimated and it is shown that the proportion of cases in which Addison disease is attributable to ALD is age dependent.
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The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe
TLDR
The results indicate a single origin of the 2588G>C mutation which, to the best estimate, occurred between 2400 and 3000 years ago and is one of the most frequent autosomal recessive mutations in the European population.
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Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome
TLDR
Clinical, genetic, and molecular findings in 4 patients with typical XLOS dysmorphic features belonging to 2 unrelated families, and the type of mutation, the MID1-impaired domain and function were compared with the presence of each of the major clinical features.
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Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies
TLDR
The developmental delay of a female infant with Fragile-X syndrome is the cumulative result of a methylated FMR1 full mutation on the active X-chromosome and the inactivation of the other homologue carrying the de novo 439 kb deletion.
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Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism.
TLDR
The proportion of patients in which the aetiology was determined justifies the implementation of this molecular testing in patients with dyshormonogenesis, and the results are in accordance with previous observations confirming the genetic heterogeneity of TPO defects.
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Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach
TLDR
It is proposed that molecular analysis of the ARX gene should be included in routine diagnostic practice in individuals with either nonsyndromic or syndromic intellectual disability, in the absence of a pathognomonic clinical feature.
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Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants – A diagnostic challenge
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Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?
TLDR
Stable single-nucleotide polymorphism lineages and related short tandem repeat (STR) haplotypes are identified of the four mosaics, 123 unrelated FXS patients and 212 controls and an extended flanking haplotype shared by mosaics from lineage A suggested a risk lineage-specific haplotype more prone to large contractions.
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