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GenomicsHPAH Barcelona Study
Data Access Committee EGAC00001001057
EGAC00001001057 | EGA
Genomics53ec8527-2eaf-41b1-8781-c1eded8dc9ec - samples
VCF file from 16 carriers of the BMPR2 p.Arg491Gln mutation in a family affected by hereditary pulmonary arterial hypertension (HPAH). Whole genome sequencing of these samples was performed in an Illumina HiSeq 4000 instrument. Libraries were prepared using the Fisher PE Kit (Kapa Biosystems). BAM f...
EGAD00001005758 | EGA
Genomicsf7f7c45f-0307-419e-bae7-696385d2d5bd - samples
Paired-end DNA-seq FASTQ files from 16 carriers of the BMPR2 p.Arg491Gln mutation in a family affected by hereditary pulmonary arterial hypertension (HPAH). Whole genome sequencing of these samples was performed in an Illumina HiSeq 4000 instrument. Libraries were prepared using the Fisher PE Kit (K...
EGAD00001005756 | EGA
Genomics79221e59-a0ac-4e58-8391-656d4f4b15ed - samples
Paired-end DNA-seq BAM files from 16 carriers of the BMPR2 p.Arg491Gln mutation in a family affected by hereditary pulmonary arterial hypertension (HPAH). Whole genome sequencing of these samples was performed in an Illumina HiSeq 4000 instrument. Libraries were prepared using the Fisher PE Kit (Kap...
EGAD00001005757 | EGA
GenomicsHPAH Genotyping data
Genotyping data for 32 individuals from a family affected by HPAH
EGAD00010001633 | EGA
GenomicsHeritable pulmonary arterial hypertension in a large Iberian family
Data from a study of a large Iberian family (n=65 subjects, 5 generations) affected by pulmonary arterial hypertension (PAH) and segregating with the BMPR2 missense mutation p.Arg491Gln (rs137852749, c.1472G>A). PAH is a rare disease characterized by an abnormal rise in mean pulmonary arterial press...
EGAS00001003123 | EGA
TranscriptomicsMapping of the GDI1 duplication at Xq28 in four unrelated XLMR patients
In a study to elucidate the genetic defects in patients with X-linked mental retardation (XLMR) we performed X chromosome-specific BAC-array-CGH and identified a 0.33 Mb inherited recurrent copy number gain at Xq28 in affected males of four unrelated XLMR families. All aberrations segregate with the...
ORGANISM(S): Homo sapiens 
2010-08-16 | E-GEOD-17813 | biostudies-arrayexpress
TranscriptomicsBlood expression profiles of fragile X premutation carriers identify genes involved in neurodegenerative and infertility phenotypes [SHSY5Y]
Fragile X premutation carriers (fXPC) of the CGG expansion in the 5M-bM-^@M-^Y-UTR of the fragile X mental retardation 1 (FMR1) gene are at high risk of Fragile X Tremor/Ataxia Syndrome (FXTAS), and females might undergo Premature Ovarian Failure (POF1). We have evaluated the peripheral blood gene e...
ORGANISM(S): Homo sapiens 
2014-02-20 | E-GEOD-48902 | biostudies-arrayexpress
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