Skip to search formSkip to main contentSkip to account menu
  • Publications
  • Influence
DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.
View on PubMed
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism
TLDR
NALCN is the gene responsible for INAD with facial dysmorphism, which forms a voltage-independent ion channel with a role in the regulation of neuronal excitability and testing infants with idiopathic severe growth retardation and neurodegeneration for NALCN mutations could benefit families.
View on BMJ
Novel recessive cone-rod dystrophy caused by POC1B mutation.
TLDR
POC1B is a novel gene for a new disease typical of CORD except that patients did not report night blindness, and Screening for Poc1B mutation could benefit families afflicted with CORD.
View on PubMed
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy
TLDR
Skin, soft tissue and joint ultrasonography can be helpful for evaluation of the musculoskeletal findings in the patients, although not specific for this disease.
View on Taylor & Francis
Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.
TLDR
These findings provide the first report showing a complex leukodystrophy associated with POLR1A, as a clinically unaffected sister of two brothers born to consanguineous parents was homozygous for the OSBPL11 variant.
View on PubMed
A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.
View on PubMed
A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family
TLDR
A consanguineous family afflicted with a unique form of orofacial clefting manifesting as a facial midline defect that also involves mandibular and maxillary structures is described.
View on Nature
GNE missense mutation in recessive familial amyotrophic lateral sclerosis
TLDR
The clinical findings in a consanguineous family with five men afflicted with recessive ALS and the identification of the homozygous mutation responsible for the disorder are described and it is proposed that the GNE mutation underlies the pathology in the family.
View on Springer
Characterization of exome variants and their metabolic impact in 6,716 American Indians from Southwest US
TLDR
It is found that individuals of SWAI have distinct allelic architecture compared to individuals with European and East Asian ancestry, with many predicted loss-of-function (pLOF) and nonsynonymous variants that were highly enriched or private in SWAI.
View on PubMed
Exome sequencing identifies a nonsense variant in DAO associated with reduced energy expenditure in American Indians.
TLDR
The results indicate that a nonsense mutation in DAO may influence EE in American Indians, and identification of variants that influence energy metabolism may lead to new pathways to treat human obesity.
View on PubMed
...
...
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License