Results 11 to 20 of about 36,631 (311)

Skeletal and dental abnormalities in patients with sex chromosome aberrations: a systematic case-based review

Pediatria Polska, 2022
Sex chromosome aneuploidies (SCAs) are common chromosomal disorders characterised by an atypical number of sex chromosomes. Turner syndrome (TS), Klinefelter syndrome (KS), and Jacobs syndrome (JS) are associated with a wide spectrum of skeletal ...
Dawid Gruszczyński, Kacper Nijakowski, Anna Wolska-Bułach, Katarzyna Lacka   +3 more
doaj   +1 more source

Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples [PDF]

, 2009
Background: It is estimated that 10-15% of all clinically recognised pregnancies result in a spontaneous abortion or miscarriage. Previous studies have indicated that in up to 50% of first trimester miscarriages, chromosomal abnormalities can be ...
Björn Menten, Katrien Swerts, Barbara Delle Chiaie, Sandra Janssens, Karen Buysse, Jan Philippé, Frank Speleman, T Hassold, V Jobanputra, M Goddijn, KA Bell, B Lomax, J Menasha, DL Bruno, D Diego-Alvarez, D Diego-Alvarez, DN Azmanov, M Daniely, B Fritz, Y Hu, A Kallioniemi, AC Tabet, J Berezowsky, B Menten, D Pinkel, S Solinas-Toldo, B Menten, K Benirschke, M Benkhalifa, M Nagaishi, AJ Schaeffer   +30 more
core   +1 more source

Innovative method for reducing uninformative calls in non-invasive prenatal testing [PDF]

, 2018
Non-invasive prenatal testing or NIPT is currently among the top researched topic in obstetric care. While the performance of the current state-of-the-art NIPT solutions achieve high sensitivity and specificity, they still struggle with a considerable ...
Budis, Jaroslav, Duris, Frantisek, Gazdarica, Juraj, Gazdaricova, Iveta, Harsanyova, Maria, Kucharik, Marcel, Minarik, Gabriel, Nagy, Balint, Radvanszky, Jan, Sekelska, Martina, Strieskova, Lucia, Szemes, Tomas, Szucs, Gabor, Turna, Jan   +13 more
core   +2 more sources

Cytogenetic abnormalities in a sample of females with premature ovarian failure

Middle East Fertility Society Journal, 2022
Background Premature ovarian failure (POF) is a complex heterogeneous disorder characterized by the triad of amenorrhea, hypergonadotropinism, and hypoestrogenism in women before the expected age of menopause.
Noha M. Issa, Ghada M. Elhady
doaj   +1 more source

The Effect of X-Rays on Cytological Traits of Tuta absoluta (Lepidoptera: Gelechiidae) [PDF]

, 2016
The tomato leafminer, Tuta absoluta (Meyrick) (Lepidoptera: Gelechiidae) is one of the most important pests of tomato. With the purpose of developing environmentally friendly control tactics such as the inherited sterility (IS) technique against this ...
Cagnotti, Cynthia Lorena, Carabajal Paladino, Leonela Zusel, Ferrari, María Edith, Lauría, Juan P., López, Silvia Noelí, Síchová, Jindra   +5 more
core   +1 more source

Multicolour interphase cytogenetics: 24 chromosome probes, 6 colours, 4 layers [PDF]

, 2011
From the late 1980s onwards, the use of DNA probes to visualise sequences on individual chromosomes (fluorescent in-situ hybridisation - FISH) revolutionised the study of cytogenetics.
A.R. Thornhill, Abruzzo, Arnold, Camps, Celeda, Cremer, D. Ioannou, D.K. Griffin, Dauwerse, DeSilva, E.J. Meershoek, Egozcue, Emmerich, Ersfeld, Fiegler, Finch, Finch, Foster, Gabriel, Griffin, Griffin, Griffin, Griffin, Griffin, Handyside, Harper, Harper, Harton, Jauch, Julien, Kallioniemi, Kearns, Kolluri, Langer, Lichter, M. Ellis, Mann, Matsuzaki, Muller, Munne, Munne, Munne, Munne, Nederlof, Nordgren, Olszewska, O’Keefe, Pinkel, Quilter, Rennstam, Roberts, Rodriguez, Rottger, Sbracia, Schardin, Schrock, Speicher, Syvanen, Tempest, Tsuchiya, Walling, Wienberg   +61 more
core   +1 more source

Prevalence and patterns of chromosomal abnormalities among Egyptian patients with infertility: a single institution’s 5-year experience

Middle East Fertility Society Journal, 2022
Background Chromosomal abnormalities represent an important cause of human infertility. Little is known about the prevalence of chromosomal abnormalities among Egyptian couples with infertility.
Faeza El-Dahtory, Sohier Yahia, Rabab Ahmed Rasheed, Yahya Wahba   +3 more
doaj   +1 more source

Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and non-radioactive in situ hybridization techniques: diagnosis of trisomy 18 with probe L1.84 [PDF]

, 1986
The localization of chromosome 18 in human interphase nuclei is demonstrated by use of radioactive and nonradioactive in situ hybridization techniques with a DNA clone designated L1.84.
A. Brückner, AHN Hopman, AL Jørgensen, AR Mitchell, B Trask, BU Zabel, CD Bloomfield, D Pinkel, GA Rappold, GA Rappold, H Hoehn, H. D. Hager, H. P. Scholl, HF Willard, J Wolfe, J. Landegent, JC Wu, JE Landegent, JE Landegent, L Manuelidis, LA Herzenberg, M Schardin, M Schmid, M Spaeter, M. Schardin, M. van der Ploeg, MM LeBeau, P Devilee, P Devilee, P. Devilee, P. Pearson, T Cremer, T. Cremer, W Schempp   +33 more
core   +1 more source

Rapid metaphase and interphase detection of radiation-induced chromosome aberrations in human lymphocytes by chromosomal suppression in situ hybridization [PDF]

, 1990
Chromosomal in situ suppression (CISS)-hybridization of biotinylated phage DNA-library inserts from sorted human chromosomes was used to decorate chromosomes 1 and 7 specifically from pter to qter and to detect structural aberrations of these chromosomes
Cremer, Christoph, Cremer, Thomas, Emmerich, Patricia, Lichter, Peter, Popp, Susanne   +4 more
core   +1 more source

Cytogenetic Findings in Mentally Retarded Iranian Patients

Balkan Journal of Medical Genetics, 2012
We conducted a cytogenetic study on 865 individuals with idiopathic mental retardation (MR) who were admitted to the Cytogenetics Department of the Iran Blood Transfusion Organisation (IBTO) Research Centre, Tehran, Iran; these were performed on blood ...
Nasiri F., Mahjoubi F., Manouchehry F., Razazian F., Mortezapour F., Rahnama M.   +5 more
doaj   +1 more source