|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
GeneticVariation |
CLINVAR |
Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation.
|
29095976 |
2018 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope.
|
29943882 |
2018 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases.
|
29211919 |
2018 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Biomechanical defects and rescue of cardiomyocytes expressing pathologic nuclear lamins.
|
29432544 |
2018 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly.
|
27723096 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA.
|
27876398 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.
|
28679633 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
GeneticVariation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy.
|
28416588 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene.
|
29770364 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C > T LMNA mutation.
|
28620495 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Genetic Mechanisms Contribute to the Development of Heart Failure in Patients with Atrioventricular Block and Right Ventricular Apical Pacing.
|
28878402 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers.
|
29237675 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy.
|
28641778 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
GeneticVariation |
CLINVAR |
Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy.
|
29367541 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation.
|
26899768 |
2016 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles.
|
27220833 |
2016 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
The expression of Lamin A mutant R321X leads to endoplasmic reticulum stress with aberrant Ca2+ handling.
|
27421120 |
2016 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Multicenter Experience With Catheter Ablation for Ventricular Tachycardia in Lamin A/C Cardiomyopathy.
|
27506821 |
2016 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
A novel lamin A/C gene mutation causing spinal muscular atrophy phenotype with cardiac involvement: report of one case.
|
25886484 |
2015 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy.
|
26084686 |
2015 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Atlas of the clinical genetics of human dilated cardiomyopathy.
|
25163546 |
2015 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Infantile-onset LMNA-associated Muscular Dystrophy Mimicking Juvenile Idiopathic Inflammatory Myopathy.
|
26034236 |
2015 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy.
|
26098624 |
2015 |