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BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription
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Infantile neuroaxonal dystrophy: what's most important for the diagnosis?
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New insights into the pathogenesis of autosomal‐dominant cutis laxa with report of five ELN mutations
TLDR
It is concluded that ADCL is a systemic disease with cardiovascular and pulmonary complications, associated with increased TGF‐β signaling and mutation‐specific differences in endoplasmic reticulum stress and apoptosis.
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Development of NIPBL Locus‐Specific Database Using LOVD: From Novel Mutations to Further Genotype–Phenotype Correlations in Cornelia de Lange Syndrome
TLDR
The development of a publicly accessible LSDB for the NIPBL gene, implicated in Cornelia de Lange Syndrome, which adopted the Leiden Open Variation database (LOVD) software platform, which enables the comprehensive Web‐based listing and curation of sequence variations and associated phenotypical information.
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A NONSENSE PORCN MUTATION IN SEVERE FOCAL DERMAL HYPOPLASIA WITH NATAL TEETH
TLDR
Focal dermal hypoplasia was confirmed at birth, with hypoplastic areas of skin, malformation of the limbs, diaphragmatic hernia, and ocular anomalies, and mutation analysis of PORCN revealed a nonsense mutation—Y359X.
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Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation
TLDR
Observations extend the spectrum of disease associated with perforin mutations to immune-mediated neurodegeneration triggered by infection and possibly due to primary immunodeficiency.
View on Nature
Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression
TLDR
Findings support that the reported translocation-associated phenotypes are “cis-ruption” and TRPS1 overexpression related, the latter most probably caused by the novel enhancer element in the TR PS1 5′ region.
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BCL11A-Related Intellectual Disability
TLDR
Most affected individuals have the disorder as the result of a de novo BCL11A pathogenic variant, but prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis are possible.
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia
TLDR
Exome sequencing is a rapid and efficient first‐tier method to screen for mutations, particularly within the CCDS annotated exons, although its application requires disclosure of the extent of coverage for each targeted gene and supplementation with second‐tier Sanger sequencing for full coverage.
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Obesity-associated gene TMEM18 has a role in the central control of appetite and body weight regulation
TLDR
The hypothesis that TMEM18 itself, acting within the central nervous system, is a plausible mediator of the impact of adjacent genetic variation on human adiposity is supported.
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