Nance-Horan syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.
|
30642278 |
2019 |
Nance-Horan syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
First, albumin was conjugated with ADIBO-NHS (albumin-ADIBO) by reacting albumin with various molar ratios of ADIBO.
|
31281486 |
2019 |
Nance-Horan syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
All cases of pre-invasive penile, anal, vulval, and vaginal disease diagnosed in 1990-2015 were identified within the NHS pathology databases in the two largest NHS health boards in Scotland.
|
30650180 |
2019 |
Nance-Horan syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patient access information was gathered from the health boards and from contacting dental practices where this information was not available.Results It was found that, on average, only 15% of all NHS practices in Wales were accepting adult NHS patients in 2017-2018 and 21% of all NHS practices had waiting lists.
|
31253919 |
2019 |
Nance-Horan syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The functionalization of the gold coated multi-walled carbon nanotube (MWCNT) structures of the BP electrodes is achieved by 3-mercaptopropionic acid surface modification to possess negatively charged carboxylic groups and subsequently followed by EDC/Sulfo-NHS (1-Ethyl-3-(3-dimethylaminopropyl) carbodiimide hydrochloride and N-Hydroxysulfosuccinimide) crosslinking with BODx.
|
30397324 |
2018 |
Nance-Horan syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The poly(γ-glutamic acid)-NHS (γ-PGA-NHS) esters were used to endow collagen with both of excellent water-solubility and thermal stability via cross-linking reaction between γ-PGA-NHS and collagen.
|
29425869 |
2018 |
Nance-Horan syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel small deletion in the NHS gene associated with Nance-Horan syndrome.
|
29402928 |
2018 |
Nance-Horan syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we identify a patient with Nance-Horan syndrome caused by a new nonsense NHS variant.
|
29358614 |
2018 |
Nance-Horan syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of Nance-Horan syndrome due to a skewed X chromosome inactivation resulting from a balanced translocation t(X;1) that disrupts the NHS gene expression, with important implications for clinical presentation and genetic counseling.
|
28922055 |
2018 |
Nance-Horan syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This research broadens the spectrum of NHS gene mutations, contributing to our understanding of the molecular genetics of NHS.
|
28061824 |
2017 |
Nance-Horan syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of the Nance-Horan syndrome (NHS) gene was performed by direct sequencing of polymerase chain reaction-amplified exons.
|
28557584 |
2017 |
Nance-Horan syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Conjugation of Cy5.5 to MALAT1 ASO was accomplished using standard NHS (N-hydroxysuccinimide) ester procedures, and the labelled MALAT1 ASO was purified with a Glen-Pak DNA Purification Cartridge and reversed-phase high performance liquid chromatography (HPLC).
|
29156758 |
2017 |
Nance-Horan syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our findings broaden the spectrum of NHS mutations causing Nance-Horan syndrome and phenotypic spectrum of the disease in Chinese patients.
|
25266737 |
2015 |
Nance-Horan syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The male proband of Family 2 was homozygous for an ITGB6 transition mutation in Exon 11 (g.73664C > T c.1846C > T p.Arg616*) and hemizygous for a transition mutation in Exon 6 of Nance-Horan Syndrome (NHS Xp22.13; g.355444T > C c.1697T > C p.Met566Thr).
|
24305999 |
2014 |
Nance-Horan syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.
|
24968223 |
2014 |
Nance-Horan syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A Turkish family with Nance-Horan Syndrome due to a novel mutation.
|
23566852 |
2013 |
Nance-Horan syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The duplication at Xp22.2-22.13 involved the NHS gene causative for Nance-Horan syndrome, which is an X-linked disorder showing similar clinical features with OFCD in affected males, and in carrier females with milder presentation.
|
22301464 |
2012 |
Nance-Horan syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our findings are in line with several recent case reports to indicate that genomic rearrangement involving the NHS gene is an important genetic etiology underlying NHS.
|
20882036 |
2011 |
Nance-Horan syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We performed linkage analysis in a Tunisian family with NHS in which affected males and obligate carrier female share a common haplotype in the Xp22.32-p11.21 region that contains the NHS gene.
|
21559051 |
2011 |
Nance-Horan syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology.
|
20332100 |
2010 |
Nance-Horan syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology.
|
20332100 |
2010 |
Nance-Horan syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Truncating mutations in the Nance-Horan syndrome (NHS) gene cause this X-linked genetic disorder.
|
18949062 |
2008 |
Nance-Horan syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Truncating mutations in the Nance-Horan syndrome (NHS) gene cause this X-linked genetic disorder.
|
18949062 |
2008 |
Nance-Horan syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Truncating mutations in the Nance-Horan syndrome (NHS) gene cause this X-linked genetic disorder.
|
18949062 |
2008 |
Nance-Horan syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to identify the frequency and distribution of NHS gene mutations and compare genotype with Nance-Horan phenotype in five North American NHS families.
|
17417607 |
2007 |