Autosomal Dominant Osteopetrosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have reported loss-of-function mutations in the chloride channel 7 (CLCN7) gene as a cause of autosomal dominant osteopetrosis type II (ADO-II).
|
19288050 |
2009 |
Autosomal Dominant Osteopetrosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Here we describe a patient who presented with a clinical picture of Autosomal Dominant Osteopetrosis type I (ADO I), in whom we could identify the first deletion in the LRP5 gene causing increased bone mass.
|
21600326 |
2011 |
Autosomal Dominant Osteopetrosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant osteopetrosis type II (ADO II) is a rare, heritable bone disorder characterized by a high bone mass and insufficient osteoclast activity.
|
24336069 |
2014 |
Autosomal Dominant Osteopetrosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
There are three types of osteopetrosis: autosomal recessive osteopetrosis (ARO), autosomal dominant osteopetrosis type II (ADO II), and intermediate autosomal recessive osteopetrosis (IARO).
|
21962762 |
2012 |
Autosomal Dominant Osteopetrosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CLCN7 gene result in autosomal dominant osteopetrosis type II (ADO‑II), autosomal recessive osteopetrosis (ARO) and intermediate ARO (IARO).
|
30942407 |
2019 |
Autosomal Dominant Osteopetrosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II).
|
29018903 |
2018 |
Autosomal Dominant Osteopetrosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients.
|
26395888 |
2016 |
Autosomal Dominant Osteopetrosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Type II autosomal dominant osteopetrosis (ADO II) is characterized by an increased bone mass that contrasts with the high frequency of fractures.
|
11028441 |
2000 |
Autosomal Dominant Osteopetrosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study we analysed the imaging patterns in two families containing five members with asymptomatic and uncomplicated autosomal dominant osteopetrosis (ADO II), and we report new and uncommon radiological manifestations.
|
19547970 |
2009 |
Autosomal Dominant Osteopetrosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Type II autosomal dominant osteopetrosis (ADO II, Albers-Schonberg disease) is a genetic condition characterized by generalized osteosclerosis predominating in some skeletal sites such as the spine and pelvis.
|
10617161 |
2000 |
Autosomal Dominant Osteopetrosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A markedly elevated BB isoenzyme fraction of serum creatine kinase was noted in four male siblings and correlated with typical radiographic findings of autosomal dominant osteopetrosis Type II (ADO Type II).
|
1516225 |
1992 |
Osteopetrosis
|
0.050 |
Biomarker
|
disease |
BEFREE |
Although other forms of osteopetrosis are considerably more severe, the name "benign osteopetrosis" previously used for ADO II is probably a misnomer.
|
10617161 |
2000 |
Osteopetrosis
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
There are three types of osteopetrosis: autosomal recessive osteopetrosis (ARO), autosomal dominant osteopetrosis type II (ADO II), and intermediate autosomal recessive osteopetrosis (IARO).
|
21962762 |
2012 |
Osteopetrosis
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
The G215R mutation in the Cl-/H+-antiporter ClC-7 found in ADO II osteopetrosis does not abolish function but causes a severe trafficking defect.
|
20830208 |
2010 |
Osteopetrosis
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
They range from a devastating neurometabolic disease, through severe malignant infantile osteopetrosis (OP) to two more benign conditions principally affecting adults [autosomal dominant OP (ADO I and II)].
|
12662317 |
2003 |
Osteopetrosis
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Because some ARO patients have mutations in both copies of the ClCN7 gene, ADO II is allelic with a subset of ARO cases.
|
11741829 |
2001 |
Chronic Obstructive Airway Disease
|
0.040 |
Biomarker
|
disease |
BEFREE |
External Validation Of The Updated ADO Score In COPD Patients From The Birmingham COPD Cohort.
|
31749613 |
2019 |
Chronic Obstructive Airway Disease
|
0.040 |
Biomarker
|
disease |
BEFREE |
In primary care, ADO appears superior at predicting death in COPD.
|
29724388 |
2018 |
Chronic Obstructive Airway Disease
|
0.040 |
Biomarker
|
disease |
BEFREE |
The simplified and optimized B-AE-Ds and the ADO index had good discrimination and calibration properties for the prediction of mortality in stable COPD patients.
|
31665736 |
2019 |
Chronic Obstructive Airway Disease
|
0.040 |
Biomarker
|
disease |
BEFREE |
Our analyses showed best discriminatory performance for the ADO and updated BODE scores in patients with COPD.
|
29495970 |
2018 |
Autosomal Recessive Osteopetrosis
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the chloride channel 7 gene (CLCN7) lead to chloride channel defect, which results in autosomal dominant osteopetrosis type II (ADO-II), autosomal recessive osteopetrosis (ARO), and intermediate autosomal recessive osteopetrosis (IARO).
|
26395888 |
2016 |
Autosomal Recessive Osteopetrosis
|
0.030 |
Biomarker
|
disease |
BEFREE |
Mutations in the CLCN7 gene result in autosomal dominant osteopetrosis type II (ADO‑II), autosomal recessive osteopetrosis (ARO) and intermediate ARO (IARO).
|
30942407 |
2019 |
Autosomal Recessive Osteopetrosis
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
We present the first Chinese IARO patient with a novel homozygous variant in CLCN7 gene (p. Pro470Leu) and an ADO II patient with a heterozygous variant in CLCN7 gene (p. Arg286Trp).
|
21962762 |
2012 |
Bone Diseases
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Autosomal dominant osteopetrosis type II (ADO-II) is a heritable bone disorder characterized by osteosclerosis, predominantly involving the spine (vertebral end-plate thickening, or rugger-jersey spine), the pelvis ("bone-within-bone" structures) and the skull base.
|
26056022 |
2016 |
Bone Diseases
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Autosomal dominant osteopetrosis type II (ADO II) is a rare, heritable bone disorder characterized by a high bone mass and insufficient osteoclast activity.
|
24336069 |
2014 |