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Items: 11

1.

Loss of soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia.

(Submitter supplied) Background: Moyamoya is a cerebrovascular condition of unknown mechanism characterized by a progressive stenosis of the terminal part of the internal carotid arteries (ICA) and the compensatory development of abnormal “moyamoya” vessels. It leads to ischemic and hemorrhagic stroke. We describe a novel autosomal recessive disease leading to severe moyamoya and early onset achalasia and report its cause in 3 unrelated families. more...
Organism:
Homo sapiens
Type:
SNP genotyping by SNP array
Platform:
GPL3718
9 Samples
Download data: CEL, CHP
Series
Accession:
GSE48099
ID:
200048099

PubMed Full text in PMC Similar studies

2.

[Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array

(Submitter supplied) Affymetrix submissions are typically submitted to GEO using the GEOarchive method described at http://www.ncbi.nlm.nih.gov/projects/geo/info/geo_affy.html The GeneChip® Human Mapping 500K Array Set provides consistently high coverage across different populations. It is comprised of two arrays, each capable of genotyping on average 250,000 SNPs (approximately 262,000 for Nsp arrays and 238,000 for Sty arrays). more...
Organism:
Homo sapiens
193 Series
11192 Samples
Download data
Platform
Accession:
GPL3718
ID:
100003718

3.

Leukocyte_child_affected_N9

Organism:
Homo sapiens
Source name:
Leukocyte peripheral blood N9
Platform:
GPL3718
Series:
GSE48099
Download data: CEL, CHP
Sample
Accession:
GSM1168485
ID:
301168485

4.

Leukocyte_child_affected_N8

Organism:
Homo sapiens
Source name:
Leukocyte peripheral blood N8
Platform:
GPL3718
Series:
GSE48099
Download data: CEL, CHP
Sample
Accession:
GSM1168484
ID:
301168484

5.

Leukocyte_child_unaffected_N7

Organism:
Homo sapiens
Source name:
Leukocyte peripheral blood N7
Platform:
GPL3718
Series:
GSE48099
Download data: CEL, CHP
Sample
Accession:
GSM1168483
ID:
301168483

6.

Leukocyte_child_unaffected_N6

Organism:
Homo sapiens
Source name:
Leukocyte peripheral blood N6
Platform:
GPL3718
Series:
GSE48099
Download data: CEL, CHP
Sample
Accession:
GSM1168482
ID:
301168482

7.

Leukocyte_child_affected_N5

Organism:
Homo sapiens
Source name:
Leukocyte peripheral blood N5
Platform:
GPL3718
Series:
GSE48099
Download data: CEL, CHP
Sample
Accession:
GSM1168481
ID:
301168481

8.

Leukocyte_child_affected_N4

Organism:
Homo sapiens
Source name:
Leukocyte peripheral blood N4
Platform:
GPL3718
Series:
GSE48099
Download data: CEL, CHP
Sample
Accession:
GSM1168480
ID:
301168480

9.

Leukocyte_child_unaffected_N3

Organism:
Homo sapiens
Source name:
Leukocyte peripheral blood N3
Platform:
GPL3718
Series:
GSE48099
Download data: CEL, CHP
Sample
Accession:
GSM1168479
ID:
301168479

10.

Leukocyte_mother_unaffected_N2

Organism:
Homo sapiens
Source name:
Leukocyte peripheral blood N2
Platform:
GPL3718
Series:
GSE48099
Download data: CEL, CHP
Sample
Accession:
GSM1168478
ID:
301168478

11.

Leukocyte_father_unaffected_N1

Organism:
Homo sapiens
Source name:
Leukocyte peripheral blood N1
Platform:
GPL3718
Series:
GSE48099
Download data: CEL, CHP
Sample
Accession:
GSM1168477
ID:
301168477

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