|
Periventricular Nodular Heterotopia
|
0.420 |
GeneticVariation
|
disease |
BEFREE |
MAP1B mutations have recently been associated with a phenotype including periventricular nodular heterotopia (PVNH), intellectual disability (ID), seizures, and dysmorphic features.
|
31317654 |
2019 |
|
Periventricular Nodular Heterotopia
|
0.420 |
GermlineCausalMutation
|
disease |
ORPHANET |
The PVNH was frontally predominant and associated with perisylvian polymicrogyria.These results implicate MAP1B in PVNH.
|
29738522 |
2018 |
|
Periventricular Nodular Heterotopia
|
0.420 |
Biomarker
|
disease |
BEFREE |
The PVNH was frontally predominant and associated with perisylvian polymicrogyria.These results implicate MAP1B in PVNH.
|
29738522 |
2018 |
|
Periventricular Nodular Heterotopia
|
0.420 |
Biomarker
|
disease |
HPO |
|
|
|
|
Periventricular Nodular Heterotopia
|
0.420 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Intellectual Disability
|
0.330 |
GeneticVariation
|
group |
BEFREE |
MAP1B mutations have recently been associated with a phenotype including periventricular nodular heterotopia (PVNH), intellectual disability (ID), seizures, and dysmorphic features.
|
31317654 |
2019 |
|
Intellectual Disability
|
0.330 |
Biomarker
|
group |
GENOMICS_ENGLAND |
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
|
29738522 |
2018 |
|
Intellectual Disability
|
0.330 |
GeneticVariation
|
group |
BEFREE |
MAP1B mutations cause intellectual disability and extensive white matter deficit.
|
30150678 |
2018 |
|
Intellectual Disability
|
0.330 |
GeneticVariation
|
group |
BEFREE |
In addition, we found a genomic deletion encompassing MAP1B in one patient with intellectual disability, microcephaly and seizures and deletions encompassing MYO16 in two unrelated patients with intellectual disability, autism and microcephaly.
|
25902260 |
2015 |
|
Colorectal Carcinoma
|
0.300 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
|
Visual seizure
|
0.200 |
Biomarker
|
disease |
RGD |
Kindling status in sprague-dawley rats induced by pentylenetetrazole: involvement of a critical development period.
|
12598335 |
2003 |
|
Visual seizure
|
0.200 |
Biomarker
|
disease |
RGD |
Dynamics of gene expression for immediate early- and late genes after seizure activity in aged rats.
|
11395167 |
2001 |
|
Hypothyroidism
|
0.200 |
Biomarker
|
disease |
RGD |
Microtubule-associated protein 1B but not 1A was still present in parallel fibres in less mature folia at P30 in hypothyroid rats suggesting that the expression of these two microtubule-associated proteins is regulated separately.
|
3252178 |
1988 |
|
Spinal Muscular Atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
The markers span an approximately 0.7 cM region defined by the SMA flanking markers D5S435 and MAP1B.
|
7825580 |
1995 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our data suggest that the most likely location for SMA is between locus D5S629 and the block D5S637/D5S351/MAP-1B/D5S112/D5S357.
|
8128967 |
1994 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have extended our linkage studies of SMA in the French-Canadian population to include microsatellite markers at the D5S125, D5S351, D5S435, JK53CA1/2 and MAP1B loci.
|
8012358 |
1994 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We localized a recently described polymorphic marker, D5S351 (Hudson et al., 1992), close to the SMA (theta = 0.00 at zmax = 19.01) and the 3'MAP1B gene (theta = 0.01 at zmax = 38.76).
|
7912691 |
1994 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recent reports have provided evidence that a major gene for autosomal recessive proximal spinal muscular atrophy (SMA) resides in a small genetic interval in bands q12-q13 of chromosome 5, a 4-cM region proximally flanked by D5S125 (EF(TG/AG)n) and distally by MAP1B/D5S112 or a 0.7-cM interval (range 0.1-2.1 cM) flanked by D5S435 proximally and MAP1B/D5S112 distally.
|
7959774 |
1994 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
By minimum recombinant analysis the most likely position of the SMA locus was between loci D5S6/D5S125 and D5S112/MAP1B, which is in agreement with several linkage studies from other countries.
|
8268730 |
1993 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our data suggest that the most likely location for the SMA locus is between blocks AFM114ye7 (D5S465)/EF5.15 (D5S125) and MAP-1B/JK53 (D5S112) at a sex-combined genetic distance of 2.4 and 1.7 cM, respectively.
|
8096827 |
1993 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we report linkage analyses in 64 SMA families with nine polymorphic markers closely linked to the SMA gene, which allowed us to narrow the SMA region to about 4 cM and to define a new proximal genetic border by the locus D5S125 (EF(TG/AG)n. Based on haplotype analysis and specific recombination events, the following order of the loci was determined: 5cen-D5S76-D5S6-D5S125-SMA-(5'MAP-1B-3'MAP- 1B)/D5S112-JK53CA1/2-(D5S39-D5S127)-5qter.
|
8432521 |
1993 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B.
|
8449502 |
1993 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6.
|
1505990 |
1992 |
|
Spinal Muscular Atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
These mapping data together with the postulated role of MAP-1B in neuronal morphogenesis and its localization in anterior horn motor neurons suggest a possible association with SMA.
|
1881920 |
1991 |
|
Aortic Aneurysm
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|