Chromosomal diseases

This book is meant to summarize our current knowledge of the structure, function and evolution of microtubule organizing centers, primarily centrosomes. Emphasis is on the role of these organelles in development and disease (particularly cancer).

474p vimeyers 29-05-2024 2 2   Download

Ebook "Molecular biology of long non-coding RNAs" will consolidate these ideas and models to better examine the most important issues in lncRNA biology. This will include critical studies that have led to the discovery and annotation of lncRNAs in numerous species, and the molecular mechanisms for a few lncRNA that have begun to emerge.

232p tracanhphuonghoa1007 22-04-2024 1 1   Download

Since different types of genetic variants, from single nucleotide variants (SNVs) to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use of whole-genome sequencing (WGS) rather than chromosomal microarray analysis (CMA) as a first-line genetic diagnostic test.

23p vibransone 28-03-2024 1 1   Download

Midbrain dopaminergic neurons (MDN) represent 0.0005% of the brain’s neuronal population and mediate cognition, food intake, and metabolism. MDN are also posited to underlay the neurobiological dysfunction of schizophrenia (SCZ), a severe neuropsychiatric disorder that is characterized by psychosis as well as multifactorial medical co-morbidities, including metabolic disease, contributing to markedly increased morbidity and mortality.

19p vibransone 28-03-2024 9 2   Download

Pancreatic neuroendocrine tumors (PANETs) are rare, slow growing cancers that often present with local and distant metastasis upon detection. PANETS contain distinct karyotypes, epigenetic dysregulation, and recurrent mutations in MEN1, ATRX, and DAXX (MAD+); however, the molecular basis of disease progression remains uncharacterized.

15p vibransone 28-03-2024 6 2   Download

Exon-targeted microarrays can detect small (

15p vioraclene 31-03-2024 5 2   Download

Amyotrophic lateral sclerosis (ALS) is a complex, late-onset, neurodegenerative disease with a genetic contribution to disease liability. Genome-wide association studies (GWAS) have identified ten risk loci to date, including the TNIP1/GPX3 locus on chromosome five.

22p vibransone 28-03-2024 3 1   Download

African ancestry is a significant risk factor for advanced prostate cancer (PCa). Mortality rates in subSaharan Africa are 2.5-fold greater than global averages. However, the region has largely been excluded from the benefits of whole genome interrogation studies. Additionally, while structural variation (SV) is highly prevalent, PCa genomic studies are still biased towards small variant interrogation

14p viellison 28-03-2024 6 2   Download

Non-invasive prenatal testing (NIPT) as a screening method for common chromosomal abnormalities such as trisomy 21, 18, and 13 has been widely adopted. In the last five years, the possibility of NIPT to detect common single-gene disorders (SGD) due to de novo mutations or paternal inherited had been reported worldwide.

8p vilarry 12-03-2024 1 1   Download

Part 2 book "Mayo clinic neurology board review - Basic sciences and psychiatry for initial certification" includes content: Cellular signaling, cellular processes, cellular injury and death, neuropharmacology, sleep pathophysiology, patterns of inheritance in neurogenetic disease, chromosomal syndromes, electroencephalography, nerve conduction studies and needle electromyography, cerebrospinal fluid, evoked potentials, neuroimaging,... and other contents.

206p muasambanhan07 20-02-2024 4 0   Download

Sickle cell disease and oculocutaneous albinism are rare autosomal recessive disorders both related to mutations on chromosome 11. The diagnosis of patients suffering from both pathologies is necessary to enable dedicated monitoring of any complications at the ophthalmic and skin level.

6p vilazada 31-01-2024 3 2   Download

We report a case of the neonatal interstitial lung disease pulmonary interstitial glycogenosis in a girl with Jacobsen syndrome. While Jacobsen syndrome is caused by a deletion on the long arm of chromosome 11 and is genetically conformed, pulmonary interstitial glycogenosis is of unknown etiology and is diagnosed by lung biopsy. Pulmonary interstitial glycogenosis has not previously been described in association with Jacobsen syndrome.

6p vitiki 30-01-2024 3 2   Download

Part 1 book "The genetics of the dog" includes content: Canid phylogeny and origin of the domestic dog, experimental studies of early canid domestication, the history and relationships of dog breeds, molecular genetics of coat colour, texture and length in the dog, mendelian traits in the dog, canine immunogenetics, the genetics of canine orthopaedic traits, genetics of cancer in dogs, genetics of neurological disease in the dog, genetics of eye disorders in the dog, canine cytogenetics and chromosome maps, canine genomics.

291p muasambanhan02 25-12-2023 5 2   Download

Part 1 book "Genetics in medicine" includes content: Introduction, introduction to the human genome, the human genome, human genetic diversity - mutation and polymorphism, principles of clinical cytogenetics and genome analysis, the chromosomal and genomic basis of disease - disorders of the autosomes and sex chromosomes, patterns of single gene inheritance, complex inheritance of common multifactorial disorders, genetic variation in populations, identifying the genetic basis for human disease.

197p oursky09 08-11-2023 7 3   Download

Part 1 book "The genetics of cattle" includes content: Systematics and phylogeny of cattle, genetic aspects of domestication, breeds of cattle, molecular genetics of coat colour variation, genetics of morphological traits and inherited disorders, cytogenetics and chromosome maps, bovine genomics, bovine immunogenetics, genetics of disease resistance,... and other contents.

328p oursky05 20-09-2023 6 2   Download

Part 1 book "Genetics in medicine" includes content: Introduction to the human genome; the human genome, human genetic diversity - mutation and polymorphism; principles of clinical cytogenetics and genome analysis; the chromosomal and genomic basis of disease: disorders of the autosomes and sex chromosomes; patterns of single gene inheritance,.... and other contents.

197p oursky05 20-09-2023 4 1   Download

Hemoglobin (Hb) Bart’s hydrops fetalis is the most severe form of α-thalassemia and is usually inherited in an autosomal recessive manner. We report a case of Hb Bart’s hydrops fetalis due to uniparental disomy of chromosome 16. Antenatal screening showed a low maternal mean corpuscular volume (MCV), while paternal MCV was normal.

5p viintuit 26-09-2023 0 0   Download

Telomeres are DNA-protein complexes that cap chromosomal ends to promote chromosomal stability. Telomere length has been associated with diet and nutrition and inversely associated with mortality, life stress, and diseases. The objective of the current study was to explore the effect of long-term intake of multiple dietary supplements on telomere length in adults compared with age-matched controls.

6p viisac 23-09-2023 3 1   Download

Part 2 book "100 Case studies in pathophysiology" includes content: Neuroendocrine disorders, chromosome abnormality disorders, female reproductive system disorders, male reproductive system disorders, immunologic disorders musculoskeletal disorders, diseases of the skin, diseases of the blood, disorders of the eyes, ears, nose, and throat nutritional disorders, sexually transmitted diseases, appendices.

274p oursky04 05-09-2023 0 0   Download

Part 1 book "Emery’s elements of medical genetics" includes content: The history and impact of genetics in medicine, the cellular and molecular basis of inheritance, chromosomes and cell division, finding the cause of monogenic disorders by identifying disease genes, laboratory techniques for diagnosis of monogenic disorders, patterns of inheritance, population and mathematical genetics, risk calculation, developmental genetics.

223p oursky03 21-08-2023 4 2   Download