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1,336 results for “congenital”
Inter-Chemical Correlation results for the study: HHEARx2017-1839 (Zika Virus Congenital Health Outcomes and the Impact of Maternal Environmental Exposures)
Title: Zika Virus Congenital Health Outcomes and the Impact of Maternal Environmental Exposures <br>Species: Homo sapiens <br>Number of samples: 2705 <br>Number of named analytes: 10 <br>Datasource url: https://hheardatacenter.mssm.edu/PublicFile/ViewPublicFile?projectid=61 <br>
Normal Retinotopy in Primary Visual Cortex in a Congenital Complete Unilateral Lesion of Lateral Geniculate Nucleus in Human: A Case Study
<p>The data set contains .nii files for each condition of retinotopic mapping in fMRI. (Meridians, Wedges and concentric rings). It also contains DTI data files with .bvec and .bval files. Psychophysics data is in two excel files for motion and orientation discrimination. </p>
FIGURE 3. Cervical vertebral series from Callawayasaurus columbensis UCMP 38349 in Congenital and late onset vertebral fusions in long necked plesiosaurs: The first report of spondylosis deformans in Sauropterygians
FIGURE 3. Cervical vertebral series from Callawayasaurus columbensis UCMP 38349 in ventral aspect. 1. Vertebrae 23,24,25, anterior end, to right. Scale bar, 5 cm. 2. Enlargement of osteophytic bridging between vertebrae 23-24, 24- 25. Abbreviations: ns, neural spine; cr, cervical rib. Scale bar equals 5 cm.
FIGURE 2 in Congenital and late onset vertebral fusions in long necked plesiosaurs: The first report of spondylosis deformans in Sauropterygians
FIGURE 2. Pathological cervical vertebra from Colymbosaurus megadeirus (CAMSM J63919) in 1. anterior view 2. right lateral view 3. ventral view. 4. Left lateral view of pathological vertebrae in series, museum numbers CAMSM J63919 v, w, x, aa; estimated positions in cervical series 26 to 29. 5. Plesiosauroid (indet) (GPIT.RE.03173) terminal cervical and first pectoral in left lateral view and 6. right lateral view. Abbreviations: cv, cervical vertebra; pv, first pectoral vertebra; ve, pathological ventral expansions. Scale bar equals 3 cm.
FIGURE 5. 1 in Congenital and late onset vertebral fusions in long necked plesiosaurs: The first report of spondylosis deformans in Sauropterygians
FIGURE 5. 1. General diagram of spondylosis deformans grades (based on Kranenberg et al., 2012) 2. Schematic diagram of plesiosaur cervical vertebrae showing spondylosis deformans grades. Grade 0: no enthesophytes. Grade 1: small enthesophyte at the edge of the epiphysis, not extending past the end plate. Grade 2: enthesophyte extending beyond the end plate but not connecting to enthesophyte on adjacent vertebra. Grade 3: enthesophytes on adjacent vertebrae connected forming bony bridges between vertebrae. 3. Reproduction of radiographic images of spondylosis deformans grades in a dog, for comparison. https://veteriankey.com/spondylosis-deformans/
FIGURE 1. Fused cervical vertebrae 12 and 13 in Congenital and late onset vertebral fusions in long necked plesiosaurs: The first report of spondylosis deformans in Sauropterygians
FIGURE 1. Fused cervical vertebrae 12 and 13 in juvenile Muraenosaurus sp. (NWM 19.96.G17) in 1. ventral 2. left lateral 3. right lateral and 4. dorsal view. 5. Ventral view of vertebral series (numbered), showing abnormal position of ventral foramina in vertebrae 10 and 11, and symmetrical positioning in 14, 15. 6. Reconstruction of Muraenosaurus (from Andrews, 1910) showing position of vertebral fusion. Abbreviations: for, foramina subcentralia; naf, neural arch facets. Scale bar equals 4 cm.
FIGURE 4. Cervical vertebral series from Callawayasaurus columbensis UCMP 38349 in Congenital and late onset vertebral fusions in long necked plesiosaurs: The first report of spondylosis deformans in Sauropterygians
FIGURE 4. Cervical vertebral series from Callawayasaurus columbensis UCMP 38349 in ventral aspect. 1. Vertebrae 15-18, anterior end to right. Scale bar equals 5 cm. 2. Enlargement showing claw-like ventral expansion projecting antero-posteriorly between vertebrae 16-17, 17-18. 3. Ventral view of cervical series from UCMP 38349 without pathologies, vertebrae 32-35. Abbreviations: ns, neural spine; cr, cervical rib; ve, pathological ventral expansion. Scale bar equals 5 cm.
Dataset related to article: "Congenital insensitivity to pain a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A"
<p>raw data related to article reported at title</p>
Data from: A naturally occurring canine model of syndromic congenital microphthalmia
Open the record for dataset details and reuse information.
A longitudinal study of motor and cognitive development in infants with congenital idiopathic clubfoot.
<p>Dataset of A longitudinal study of motor and cognitive development in infants with congenital idiopathic clubfoot.</p>
Clinical and genetic findings in an Italian cohort of individuals with congenital cataract
<p>List of variants and associated clinical phenotypes identified in a cohort of individuals affected by congenital cataract (syndromic and non-syndromic forms) that have been submitted to the public ClinVar repository (https://www.ncbi.nlm.nih.gov/clinvar/) with their corresponding accession numbers.</p>
Ponseti method under general anesthesia is an effective method of treatment for neglected congenital talipes equino varus
<p>This data is associated with an article titled "Ponseti method under general anesthesia is an effective method of treatment for neglected congenital talipes equino varus" </p>
Quantitative PCR from human genomic DNA: the determination of gene copy numbers for congenital adrenal hyperplasia and RCCX copy number variation
<p>The dataset is related a study in which we aimed to simultaneously assess the performance of 7 quantitative polymerase chain reaction (qPCR) assays for the gene copy number (GCN) determination of the genetic elements of RCCX copy number variation (CNV). A single laboratory method validations of duplex qPCR assays with hydrolysis probes on <em>CYP21A1P</em> and <em>CYP21A2</em> genes, which are responsible for congenital adrenal hyperplasia, were performed using 46 human genomic DNA samples. We also performed the verifications on 5 qPCR assays for the genetic elements of RCCX CNV such as <em>C4A</em> gene, <em>C4B</em>, gene, RCCX CNV breakpoint, HERV-K(C4) CNV deletion and insertion alleles. The dataset contains the data of genomic DNA samples, the raw quantification cycle values of all qPCR experiments, the peak heights and dosage quotient of multiplex ligation-dependent probe amplification (MLPA) experiments, and the detailed GCN results based on qPCR and MLPA. All other analyses are available in our publication under the same title.</p>
Data from: Non-inheritable risk factors during pregnancy for congenital heart defects in offspring: a matched case-control study
<p>Data analyzed in "Non-inheritable risk factors during pregnancy for congenital heart defects in offspring: a matched case-control study". The data provided by the authors to benefit other researchers. The posted materials are not copyedited and are the sole responsibility of the authors, so questions should be addressed to the corresponding author.</p>
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5
<p>The SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptor) protein syntaxin-5 (Stx5) is essential for Golgi transport. In humans, the <em>STX5</em> mRNA encodes two protein isoforms, Stx5 Long (Stx5L) from the first starting methionine and Stx5 Short (Stx5S) from an alternative starting methionine at position 55. In this study, we identified a novel human disorder caused by a single missense substitution in the second starting methionine (p.M55V), resulting in complete loss of the short isoform. Patients suffer from an early fatal multisystem disease, including severe liver disease, skeletal abnormalities and abnormal glycosylation. Primary human dermal fibroblasts isolated from these patients showed defective glycosylation, altered Golgi morphology as measured by electron microscopy and mislocalization of glycosyltransferases. Measurements of anterograde trafficking, based on biotin-synchronizable forms of Stx5 (the RUSH system), and of cognate binding SNAREs, based on Förster resonance energy transfer (FRET), revealed that the short isoform of Stx5 is essential for intra-Golgi transport. This is the first time a mutation in an alternative starting codon is linked to human disease, demonstrating that the site of translation initiation is an important new layer of regulating protein trafficking.</p>
Congenital diaphragmatic hernia in a middle-income country: persistent high lethality during a 12-year period.
<p>Database used for analysis of the manuscript entitled: "Congenital diaphragmatic hernia in a middle-income country: persistent high lethality during a 12-year period". The aim of the study was to analyze, in São Paulo state of Brazil, the temporal trends of incidence, neonatal mortality and lethality of congenital diaphragmatic hernia (CDH) and its subgroups (isolated CDH, CDH associated to chromosomal anomaly and CDH associated to non-chromosomal anomalies) and identify the time to congenital diaphragmatic hernia-associated neonatal death. </p>
Supplemental material for the paper "Genotype-phenotype correlation, clinical presentation, and feminizing surgery in children with congenital adrenal hyperplasia - a nationwide study"
<p>This dataset provides documentation for the translation between historical nomenclature for variants in the CYP21A2 gene to the Human genome variation society nomenclature. </p> <p>Furthermore, it provides data on all Danish CYP21A2 variants included in the study and the translation into genotype groups: Null, A, B, C, and D. </p>
Functional dissection of human cardiac enhancers and non-coding de novo variants in congenital heart disease
<p>This is the CHD MPRA motif analysis input file. Please see the detail in : https://github.com/pulab/CHD_DNVs/tree/main/MPRA-Enhancer/CHD_MPRA_project/CHD_MPRA_library</p>
Overcoming the congenitally disadvantageous mutation through adaptation to environmental UV exposure in land snails
<p>Congenital fitness-disadvantageous mutations are not maintained in the population; they are purged from the population through processes such as purifying selection. However, these mutations could persist in the population as polymorphisms when it is advantageous for the individuals carrying them to adapt to a specific external environment. We tested this hypothesis using the dimorphic land snail <em>Euhadra peliomphala simodae</em> in Japan; these snails have dark or bright-coloured shells. The survival rate of dark snails at hatching was lower than that of the bright ones, as observed in the F1 progenies produced through crossing. Dark snails have a congenital fitness-disadvantageous mutation; however, they also have protection against ultraviolet radiation. They have a higher survival rate than the bright snails in a UV environment, as observed using the UV exposure experiments and UV transmittance measurements. This is a good example of a congenitally disadvantageous mutation that is advantageous for adapting to the external environment. These results explain the maintenance of polymorphism and highlight the genotypic and phenotypic diversity in the wild population.</p>
Study of SPR001 in Adults With Classic Congenital Adrenal Hyperplasia
ClinicalTrials.gov study NCT03257462. IPD Sharing: NO. Countries: 1. Publications: 1.
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.