Pili torti-deafness syndrome
|
0.750 |
Biomarker
|
disease |
CLINGEN |
Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome.
|
28105683 |
2017 |
Pili torti-deafness syndrome
|
0.750 |
Biomarker
|
disease |
CLINGEN |
We report the first Italian patients with Bjornstad syndrome, two siblings with pili torti and sensorineural hearing loss, in whom we detected two novel compound heterozygous mutations in BCS1L.
|
28322498 |
2017 |
Pili torti-deafness syndrome
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.
|
28322498 |
2017 |
Pili torti-deafness syndrome
|
0.750 |
Biomarker
|
disease |
BEFREE |
The TYMS 6bp ins/del and 6bp del/del genotype was associated with low birth weight (LBW) compared to 6bp ins/ins genotype in both term and PTD groups, and in case of very (p=0.024) and moderately (p=0.045) sub-cohorts of PTD significantly.
|
28627444 |
2017 |
Pili torti-deafness syndrome
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Pili torti-deafness syndrome
|
0.750 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Pili torti-deafness syndrome
|
0.750 |
Biomarker
|
disease |
CLINGEN |
Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.
|
25895478 |
2015 |
Pili torti-deafness syndrome
|
0.750 |
Biomarker
|
disease |
BEFREE |
BCS1L is the causative gene of Björnstad syndrome, which is characterized by sensorineural hearing loss and pili torti.
|
25895478 |
2015 |
Pili torti-deafness syndrome
|
0.750 |
GermlineCausalMutation
|
disease |
ORPHANET |
A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene.
|
24236502 |
2014 |
Pili torti-deafness syndrome
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
|
24172246 |
2013 |
Pili torti-deafness syndrome
|
0.750 |
GermlineCausalMutation
|
disease |
ORPHANET |
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
|
24172246 |
2013 |
Pili torti-deafness syndrome
|
0.750 |
Biomarker
|
disease |
CLINGEN |
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
|
24172246 |
2013 |
Pili torti-deafness syndrome
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
|
24172246 |
2013 |
Pili torti-deafness syndrome
|
0.750 |
GeneticVariation
|
disease |
CLINVAR |
Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.
|
19389488 |
2009 |
Pili torti-deafness syndrome
|
0.750 |
GeneticVariation
|
disease |
CLINVAR |
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
|
17314340 |
2007 |
Pili torti-deafness syndrome
|
0.750 |
GermlineCausalMutation
|
disease |
ORPHANET |
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
|
17314340 |
2007 |
Pili torti-deafness syndrome
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Functional analyses elucidated how BCS1L mutations cause the Björnstad syndrome.
|
17314340 |
2007 |
Pili torti-deafness syndrome
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
|
17314340 |
2007 |
Pili torti-deafness syndrome
|
0.750 |
Biomarker
|
disease |
CLINGEN |
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
|
17314340 |
2007 |
Pili torti-deafness syndrome
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.
|
9878253 |
1998 |
Pili torti-deafness syndrome
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Björnstad syndrome in a patient with mental retardation.
|
9777342 |
1998 |
Pili torti-deafness syndrome
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Pili torti-deafness syndrome
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Pili torti-deafness syndrome
|
0.750 |
Biomarker
|
disease |
CTD_human |
|
|
|
Pili torti-deafness syndrome
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|