Sökning: "rare variants"

Visar resultat 21 - 25 av 145 avhandlingar innehållade orden rare variants.

  1. 21. Genetic implications of individual intervention and neuronal dysfunction in neurodevelopmental disorders

    Författare :Danyang Li; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Neurodevelopmental disorders (NDDs) are a group of conditions appearing in childhood, with developmental deficits that produce impairments of functioning. Autism spectrum disorder (ASD) is a common NDD with a high heritability affected by complex genetic factors, including both common and rare variants. LÄS MER

  3. 22. Genetic Screening in Patients Suspected of Inherited Bleeding Disorders

    Författare :Marcus Fager Ferrari; Malmö Klinisk koagulationsmedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Bleeding; Inherited Bleeding Disorders; Platelet Dysfunction; Thrombocytopenia; Genetic Screening; High-Throughput Sequencing; STX11; STXBP2; UNC13D; FGB; COL1A1; COL3A1; COL5A1; COL5A2; GNE; Sialic Acid; Oseltamivir;

    Sammanfattning : Inherited bleeding disorders constitute a heterogeneous group of genetic diseases, affecting virtually all major components of the hemostatic system. The diagnostics are potentially complex, and a high proportion of patients remain without a conclusive diagnosis following work-up. LÄS MER

  4. 23. Genotype-phenotype studies in brain tumors

    Författare :Soma Ghasimi; Ulrika Andersson; Beatrice Melin; Roger Henriksson; Clemens Dirven; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Glioma; Meningioma; SNP; IHC; FISH; LRIG2; EGF; EGFR; ERBB2; ER; CDKN2A B; IDH1; onkologi; Oncology;

    Sammanfattning : Meningioma and glioma are the most common primary brain tumors, but their etiologies are largely unknown. Although meningioma is usually benign, their intracranial location can lead to lethal consequences, and despite progress in surgery, radiotherapy, and chemotherapy the prognosis for patients with glioma remains poor. LÄS MER

  5. 24. Beyond GWAS : Novel Methods and Resources for Genetic Epidemiology

    Författare :Daniel Schmitz; Åsa Johansson; Tuuli Lappalainen; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; GWAS; NGS; long-read sequencing; mendelian randomization; WGS; CNVs;

    Sammanfattning : Since the first human genome assembly’s release, our knowledge of the genetic architecture of complex traits and diseases has grown steadily. Genome-wide association studies (GWAS) played a major role but are limited to common traits and single-nucleotide polymorphisms (SNPs). LÄS MER

  7. 25. Optic nerve hypoplasia in children : prevalence, associated disorders and genetic causes

    Författare :Sara Dahl; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Optic nerve hypoplasia (ONH) is a congenital ocular malformation with a thin optic nerve in one or both eyes. ONH has been associated with neurodevelopmental disorders and pituitary dysfunction, but the prevalence of these comorbidities are still unknown, especially in children with less severe visual impairment and unilateral disease. LÄS MER