Showing 41 - 60 results of 71 for search '"chromosome abnormality"', query time: 0.06s Refine Results
  1. 41

    Bladder Leiomyoma with Synchronous Solitary Fibrous Tumor of the Pleura by Charalampos Mavridis, George Georgiadis, Eleni D. Lagoudaki, Iordanis Skamagkas, Ioannis Heretis, Anastasios V. Koutsopoulos, Charalampos Mamoulakis

    Published 2020-01-01
    “…The exact pathophysiological mechanisms that lead to their appearance remain unclear including hormonal disorders, chromosomal abnormalities, and fetal remnants in the bladder. …”
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    Article
  2. 42

    A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels by Kousar Jahan Syeeda Khursheed, Mohammed Rahman Kaleemullah, Annu Joseph, Mohammed Hasan Al Durazi, Moiz Bakhiet

    Published 2023-01-01
    “…The patient was referred to us after clinical, hormonal, and histopathological investigations to identify chromosomal abnormalities by karyotyping and fluorescence in situ hybridization (FISH). …”
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    Article
  3. 43

    The Family After the Prenatal Death of a Child. Theological and Moral Aspects by Jan Dziedzic

    Published 2022-12-01
    “…Miscarriage is most often due to a chromosomal abnormality (approximately 60–80% of cases) or other embryo/ foetal problems and is rarely based on choices made by women. …”
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    Article
  4. 44

    Why women or why not men? sex and autoimmune diseases by Gilberto Cincinelli, Elena Generali, Rajkiran Dudam, Vinod Ravindran, Carlo Selmi

    Published 2018-01-01
    “…Experimental studies on rodents demonstrate that sex chromosome abnormalities, alterations of gut microbiota composition, and fluctuations of sex hormone concentrations decrease the susceptibility to autoimmunity in female probes or increase it in the male counterparts. …”
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    Article
  5. 45

    Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism by Ragini Kondetimmanahalli, Jane Lynch, Gary Francis, Heather Gardner, Radhika Pillai

    Published 2025-01-01
    “…However, reduced growth velocity can also occur as the first sign of chronic anemia, malnutrition, deprivation (psychosocial dwarfism), chromosomal abnormalities, genetic syndromes and inflammatory bowel diseases. …”
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    Article
  6. 46

    Assessment of Cytotoxicity and Genotoxicity Potential of Effluents from Bahir Dar Tannery Using Allium cepa by Tayachew Admas, Bizuayehu Kerisew

    Published 2022-01-01
    “…The effluent had induced chromosomal abnormalities such as laggard, fragmentation, stickiness, bridge, micronucleus, and binucleated and morphologically changed nuclei in A. cepa root cells among others. …”
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    Article
  7. 47

    Myelodysplasia and Mast Cell Leukemia with t(9;22) by Kathryn J. Lago, Matthew P. Shupe, William N. Hannah, Gopalrao V. N. Velagaleti, Christina Mendiola, Veronica Ortega, Brian R. Haney

    Published 2017-01-01
    “…Furthermore, there is no consistent chromosomal abnormality identified in MCL. This is the first reported case of MCL with a (9;22) translocation. …”
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    Article
  8. 48

    A Hybrid Approach of Using Wavelets and Fuzzy Clustering for Classifying Multispectral Florescence In Situ Hybridization Images by Yu-Ping Wang, Ashok Kumar Dandpat

    Published 2006-01-01
    “…The increased accuracy of pixel-wise classification will improve the reliability of the M-FISH imaging technique in identifying subtle and cryptic chromosomal abnormalities for cancer diagnosis and genetic disorder research.…”
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    Article
  9. 49

    Assessment of Cytogenotoxicity of Plastic Industrial Effluent Using Allium cepa Root Tip Cells by Jibril Sani Mohammed, Yahaya Mustapha, Madu Abdulkarim Him, Zandam Nuhu Danladi

    Published 2023-01-01
    “…With rising effluent concentrations, the mitotic index (M.I.) rapidly dropped. Chromosomal abnormalities were caused by the plastic effluent in the root cells of Allium cepa, especially sticky chromosome and binucleated cells being the most frequently seen at lower concentrations of 15%. …”
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    Article
  10. 50

    Association of CYP11A1 Polymorphisms with Recurrent Pregnancy Loss in the Female Population of Punjab by Amanjot Kaur Rayat, Pallvi Thapar, Mandeep Kaur, Sukhjashanpreet Singh, Anupam Kaur

    Published 2023-07-01
    “…The aetiologies of RPL include uterine anatomic anomalies, uncontrolled diabetes mellitus, untreated hypothyroidism, parental chromosomal abnormalities, antiphospholipid antibody syndrome, thrombophilia, genetic abnormalities and infections. …”
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    Article
  11. 51

    Exploring aneuploidies in two-center isolated bovine embryonic stem cell lines: Implications for cultured meat production by Chloë Deelkens, Elly De Vlieghere, Mario Van Poucke, Masaki Kinoshita, Jeffrey Aalders, Lieven Thorrez, Bert Devriendt, Ann Van Soom, Luc Peelman, Björn Menten, Catharina De Schauwer, Jolanda van Hengel

    Published 2025-06-01
    “…This study investigates the presence of chromosomal abnormalities in bovine embryonic stem cells (bESCs), which hold potential for innovative food sources such as cultured meat. …”
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    Article
  12. 52

    Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features by Jacquelyn D. Riley, Catherine M. Stefaniuk, Francine Erenberg, Angelika L. Erwin, Lauren Palange, Caroline Astbury

    Published 2019-01-01
    “…Distal deletions and duplications of 3p are individually well-characterized chromosome abnormalities. Here, we report an inverted duplication of 3p with an adjacent terminal 3p deletion in a 17-month-old girl who had prenatal intrauterine growth restriction and cardiac defects. …”
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    Article
  13. 53

    The evolution of cell-free fetal DNA testing: expanded non-invasive prenatal testing and its effect on target populations by Shaozhe Yang, Yanqi He, Jingshang Lv, Rongxiang Li, Xiuhong Fu

    Published 2025-01-01
    “…The performance indicators of the positive predictive value (PPV), positive rate (PR), specificity, and sensitivity in screening for common trisomies, sex chromosomal abnormalities (SCAs), rare autosomal aneuploidies (RAAs), and CNVs were calculated. …”
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    Article
  14. 54

    Pyloric Balloon Dilatation for Delayed Gastric Emptying in Children by DM Israel, G Mahdi, E Hassall

    Published 2001-01-01
    “…Excluded were children with chromosomal abnormalities, neurological disorders and erosive esophagitis. …”
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    Article
  15. 55

    The Use of Fluorescence In situ Hybridisation in the Diagnosis of Hidden Mosaicism in Egyptian Patients with Turner Syndrome by Heba Mohamed Ossama, Soha Kholeif, Ghada Mohamed Elhady

    Published 2023-10-01
    “…Background: Turner syndrome (TS) is the most common chromosomal abnormality in females. The diagnosis of TS is based on karyotyping of 30 blood lymphocytes. …”
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    Article
  16. 56

    No Evidence of Abnormal Expression of Beta-Catenin and Bcl-2 Proteins in Pilomatricoma as One Clinical Feature of Tetrasomy 9p Syndrome by Chariyawan Charalsawadi, Sasipong Trongnit, Kanoot Jaruthamsophon, Juthamas Wirojanan, Somchit Jaruratanasirikul, Anupong Nitiruangjaras, Pornprot Limprasert

    Published 2021-01-01
    “…A nonmosaic isodicentric chromosome 9 was identified in the peripheral blood but this rearranged chromosome was detected in only 8.3% of the skin fibroblasts. Chromosomal abnormalities were not detected in the pilomatricoma nor expression of beta-catenin or bcl2 proteins in our patient. …”
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    Article
  17. 57
  18. 58

    Automated karyogram analysis for early detection of genetic and neurodegenerative disorders: a hybrid machine learning approach by Sumaira Tabassum, M. Jawad Khan, Javaid Iqbal, Asim Waris, M. Adeel Ijaz

    Published 2025-01-01
    “…However, the unavailability of large datasets, particularly those including samples with chromosomal abnormalities, presents a significant challenge. …”
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    Article
  19. 59

    Prenatal Cytogenetic Diagnosis in Cienfuegos: Years 2007-2018 by Pedro Alí Díaz-Véliz Jiménez, Belkis Vidal Hernández, Teresa Velázquez Martínez, Yoelkis Sanjurjo Pérez, Iliana González Santana

    Published 2020-02-01
    “…The most frequent chromosomal abnormality was the free trisomy of 21 (45,8 %), the structural aberrations were 21,7 %, the mosaics were 13,3 %, and the most frequent reason for indication among the positive cases was age advanced maternal (45 cases). …”
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    Article
  20. 60

    Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism by Jonathan Lévy, Jean-Marie Jouannic, Julien Saada, Ferdinand Dhombres, Jean-Pierre Siffroi, Marie-France Portnoï

    Published 2013-01-01
    “…Trisomy 10 is a rare lethal chromosomal abnormality, most frequently found in abortion products. …”
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    Article