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Chromosome abnormalities

Xem 1-20 trên 35 kết quả Chromosome abnormalities
  • (BQ) Part 1 of the document Introduce of genetic counseling and chromosome abnormalities (Fifth edition) has contents: Elements of Medical cytogenetics, chromosome analysis, autosomal ring chromosomes, robertsonian translocations, normal chromosomal variation,... and other contents. Invite you to refer.

    pdf397p thuongdanguyetan06 20-06-2019 1 0   Download

  • (BQ) Continued part 1, part 2 of the document Introduce of genetic counseling and chromosome abnormalities (Fifth edition) has contents: Disorders associated with aberrant genomic imprinting, reproductive cytogenetics, disorders of sex development, noxious agents,.... and other contents. Invite you to refer.

    pdf332p thuongdanguyetan06 20-06-2019 1 0   Download

  • Cytogenetic Testing in Prenatal Diagnosis The vast majority of prenatal diagnostic studies are performed to rule out a chromosomal abnormality, but cells may also be propagated for biochemical studies or molecular analyses of DNA. Three procedures are used to obtain samples for prenatal diagnosis: amniocentesis, chorionic villus sampling (CVS), and fetal blood sampling. Amniocentesis is the most common procedure and is routinely performed at 15–17 weeks of gestation.

    pdf5p konheokonmummim 03-12-2010 57 3   Download

  • (BQ) Continued part 1, part 2 of the document Diagnostic ultrasound presents the following contents: The first trimester, chromosomal abnormalities, multifetal pregnancy, the fetal face and neck, the fetal brain, the fetal musculoskeletal system, sonographic evaluation of the placenta, the pediatric spinal canal,...

    pdf1016p thangnamvoiva5 14-07-2016 26 2   Download

  • Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Chromosome abnormalities in embryos from lines of Japanese quail divergently selected for body weight Vera D. WOLOWODIUK

    pdf8p toshiba21 16-11-2011 26 1   Download

  • (bq) part 1 book “pediatric pathology - a course review” has contents: multiple pregnancies and conjoined twins, congenital anomalies and malformation syndromes, basics of molecular biology and perinatal chromosomal abnormalities, fetal effusions and hydrops fetalis, placental pathology,… and other contents.

    pdf169p tieu_vu15 07-09-2018 10 0   Download

  • (bq) part 1 book “key topics in neonatology” has contents: assessment of gestational age, blood pressure, childbirth complications and foetal outcome, chromosomal abnormalities, chromosomal abnormalities, congenital diaphragmatic hernia, extreme prematurity,… and other contents.

    pdf272p dien_vi09 21-10-2018 11 0   Download

  • This book contains four parts with 16 chapters. Firstly, an optimal stimulation scheme  for  ovaries,  particularly  natural  and  minimal  stimulation  of  ovaries,  has  been  discussed  in  the  first  part.  Then,  one  paper  analyzed  that  how  many  oocytes  per  retrieval will be  the best  for human IVF practice. If one stimulation scheme produces  too  many  eggs,  it  often  results  in  hyperstimulation  syndrome.  Thus,  a  chapter  reviewed  hyperstimulation  syndrome  diagnosis,  prevention  and  treatment.

    pdf148p yeutinh98 22-09-2012 50 5   Download

  • Deletions involving the long arm of chromosome 22 (22q11) are the most common microdeletions identified to date, present in ~1/3000 newborns. VCF syndrome, the most commonly associated syndrome, consists of learning disabilities or mild mental retardation, palatal defects, a hypoplastic aloe nasi and long nose, and congenital heart defects (conotruncal defect).

    pdf7p konheokonmummim 03-12-2010 56 2   Download

  • Drought and salinity induce biochemical, physiological, morphological, and genetic responses in plants. To understand the damage to different wheat species caused by these stresses, we investigated root-shoot growth, cell division, chromosomal aberrations and nucleolus organizer regions (AgNORs) in root tip cells.

    pdf9p sony2711 28-01-2019 16 0   Download

  • Mitotic abnormalities, chromosomal behavior, and protein content in wheat (Triticum durum) due to imazethapyr (IM) treatment were determined. Wheat seeds (variety HI-8663) were exposed to 5 IM concentrations (0.5, 0.89, 1.58, 2.81, and 5 ppm) according to the between paper method, in laboratory conditions.

    pdf8p vivant2711 01-02-2019 11 0   Download

  • The effects of the herbicides 2,4-dichlorophenoxy acetic acid and isoproturon on 3 wheat (Triticum aestivum L.) varieties (HUW 234, HUW 468, and HUW 533) were studied with regards to mitotic abnormalities and chromosomal behavior.

    pdf12p vivant2711 15-02-2019 14 0   Download

  • Harrison's Internal Medicine Chapter 64. The Practice of Genetics in Clinical Medicine Implications of Molecular Genetics for Internal Medicine The field of medical genetics has traditionally focused on chromosomal abnormalities (Chap. 63) and Mendelian disorders (Chap. 62). However, there is genetic susceptibility to many common adult-onset diseases, including atherosclerosis, cardiac disorders, asthma, hypertension, autoimmune diseases, diabetes mellitus, macular degeneration, Alzheimer's disease, psychiatric disorders, and many forms of cancer.

    pdf5p konheokonmummim 03-12-2010 65 9   Download

  • Further development of banding techniques and study of prometaphase chromosomes facilitated better identification of these variations with high resolution. Culturing of free amniocytes was another breakthrough that allowed the identification of chromosomal abnormalities associated with birth defects. These classical cytogenetic techniques became mandatory for several clinical conditions and were adopted by many laboratories as a routine.

    pdf486p conquynho32 15-09-2012 42 4   Download

  • The etiology of PV is unknown. Although nonrandom chromosome abnormalities such as 20q, trisomy 8, and especially 9p, have been documented in up to 30% of untreated PV patients, unlike CML no consistent cytogenetic abnormality has been associated with the disorder. However, a mutation in the autoinhibitory, pseudokinase domain of the tyrosine kinase JAK2—which replaces valine with phenylalanine (V617F), causing constitutive activation of the kinase— appears to have a central role in the pathogenesis of PV.

    pdf5p thanhongan 07-12-2010 52 3   Download

  • Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài:Ring chromosome 18 abnormality in acute myelogenous leukemia: the clinical dilemma

    pdf4p toshiba24 06-12-2011 35 3   Download

  • Tham khảo luận văn - đề án 'báo cáo y học: " four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report"', luận văn - báo cáo phục vụ nhu cầu học tập, nghiên cứu và làm việc hiệu quả

    pdf4p thulanh27 12-12-2011 48 3   Download

  • In humans, the normal diploid number of chromosomes is 46, consisting of 22 pairs of autosomal chromosomes (numbered 1–22 in decreasing size) and one pair of sex chromosomes (XX in females and XY in males). The genome is estimated to contain between 30,000 and 40,000 genes. Even the smallest autosome contains between 200 and 300 genes. Not surprisingly, duplications or deletions of chromosomes, or even small chromosome segments, have profound consequences on normal gene expression, leading to severe developmental and physiologic abnormalities. ...

    pdf21p socolanong 25-04-2012 39 3   Download

  • The field of medical genetics has traditionally focused on chromosomal abnormalities (Chap. 63) and Mendelian disorders (Chap. 62). However, there is genetic susceptibility to many common adult-onset diseases, including atherosclerosis, cardiac disorders, asthma, hypertension, autoimmune diseases, diabetes mellitus, macular degeneration, Alzheimer's disease, psychiatric disorders, and many forms of cancer.

    pdf16p socolanong 25-04-2012 51 3   Download

  • One of the most popular organic pesticides, neem, is toxic to non-target species including crustaceans and tadpoles. Neem has been shown to cause the brain disease toxic encephalopathy in children. In mice, it causes chromosomal abnormalities in bone marrow cells and damages the DNA of sperm . Are there any other problems with organic pesticides? We really do not know simply because they are not regulated like the “synthetic” ones. Many organic products have never been tested for safety, but they are used under the guise that they are “natural” and are therefore not “chemicals”....

    pdf12p cao_can 02-01-2013 48 3   Download

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