Results 41 to 50 of about 68,433 (279)

Cytogenetic features in primary myelodysplastic syndrome Egyptian patients

Journal of Advanced Research, 2018
Karyotype is the most important diagnostic and prognostic parameter in myelodysplastic syndromes (MDS) and is abnormal in approximately 50% of patients.
Yasser Elnahass, Lamiaa Youssif
doaj   +1 more source

Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up. [PDF]

, 2015
BackgroundNoninvasive prenatal screening (NIPS) by next-generation sequencing of cell-free DNA (cfDNA) in maternal plasma is used to screen for common aneuploidies such as trisomy 21 in high risk pregnancies.
Chu, Tianjiao, Clemens, Michelle, Peters, David G, Rajkovic, Aleksandar, Saller, Devereux N, Yatsenko, Svetlana A   +5 more
core   +2 more sources

Fetal calcifications are associated with chromosomal abnormalities. [PDF]

PLoS ONE, 2015
The biological importance of calcifications occasionally noted in fetal tissues (mainly liver) at autopsy or ultrasound is largely unexplored. Previous reports hint at an association to infection, circulatory compromise, malformations or chromosomal ...
Ellika Sahlin, Meeli Sirotkina, Andreas Marnerides, Erik Iwarsson, Nikos Papadogiannakis   +4 more
doaj   +1 more source

A Case of Trisomy 9 Mosaicism Confirmed by Microarray Test [PDF]

Kosin Medical Journal, 2020
Trisomy 9 mosaicism syndrome is a rare chromosomal abnormality with a high incidence of natural abortion and perinatal death. This syndrome is characterized by intrauterine growth retardation, mental retardation, craniofacial dysmorphism including a ...
Park Chang-Eon, Chung Mi-Lm, Hwang Ji-Hye, Lee Min-Kyeong   +3 more
doaj   +1 more source

Chromosome Abnormalities

Veterinary Clinics of North America: Food Animal Practice, 1993
Chromosome abnormalities have been described in food animals since 1964. Some are self-limiting because they cause sterility or other developmental defects incompatible with normal growth and development, making them unacceptable for production systems.
openaire   +2 more sources

Assessment of Molecular Cytogenetic Methods for the Detection of Chromosomal Abnormalities [PDF]

, 2006
Some marker chromosomes and chromosome rearrangements are difficult to identify using G-bands by Giemsa staining after trypsin treatment (G-banding) alone.
Maruyama, Hidehiko, Morishima, Tsuneo, Ninomiya, Shinsuke, Shinozuka, Masako, Une, Tomoka, Yokoyama, Yuji   +5 more
core   +1 more source

PICALM::MLLT10 translocated leukemia

FEBS Letters, EarlyView.
This comprehensive review of PICALM::MLLT10 translocated acute leukemia provides an in‐depth review of the structure and function of CALM, AF10, and the fusion oncoprotein (1). The multifaceted molecular mechanisms of oncogenesis, including nucleocytoplasmic shuttling (2), epigenetic modifications (3), and disruption of endocytosis (4), are then ...
John M. Cullen, Antonia C. Nakatsugawa, Natalie Barton, Henry Haines, Gary S. Stein, Janet L. Stein, Daniel S. Wechsler, Jessica L. Heath   +7 more
wiley   +1 more source

Autism as a disorder of neural information processing: directions for research and targets for therapy [PDF]

, 2004
The broad variation in phenotypes and severities within autism spectrum disorders suggests the involvement of multiple predisposing factors, interacting in complex ways with normal developmental courses and gradients. Identification of these factors, and
A Klin, A Klin, A Peters, A Pickles, A Shah, A Shah, AL Beaudet, AM Comi, AM Connolly, AY Hardan, BF Sparks, BK Lipska, C Hughes, C Hughes, C Kemner, C Kemner, C Lord, C Park, CF Hohmann, CJ Machado, Cohen, CT Ashley Jr, D Tantam, D Whitehouse, DB Bailey Jr, DH Geschwind, DJ Laurie, DJ Posey, DL Braff, DR Denney, DW Smith, E Courchesne, E Courchesne, E Courchesne, E Courchesne, E Courchesne, E Courchesne, E Courchesne, E Fombonne, E Fransen, E Perry, E Tierney, EF Chang, EH Aylward, EH Aylward, EH Cook Jr, EH Cook Jr, EM Ornitz, EM Powell, F Castelli, F Graham, F Happ, F Kimura, G Raymond, GE Homanics, GJ Blatt, GM Anderson, GM McAlonan, GS Huh, GS Tint, GT Baranek, H Kamiguchi, H van Engeland, HA Ring, HD Critchley, I Cohen, I Krause, I Lucki, IJ Weiler, IM Smith, J Boucher, J Caston, J DeFelipe, J Piven, J Piven, J Piven, J Russell, J Townsend, J Townsend, J Townsend, J Veenstra-VanderWeele, J.L. McCauley, JA Burack, JA Court, JA Lamb, JE Long, JK Pritchard, JL Ingram, JLR Rubenstein, JM Silverman, JP Wisor, K Ballaban-Gil, K Hugdahl, K Pierce, K Pierce, K Rubia, KC Plaisted, KG Plaisted, KY Miyashiro, L Jorde, L Mottron, L Shi, LH Rolf, LJ Miller, LM Boulanger, LM Marubio, LR Cardon, M Alkondon, M Hallett, M Kuwamura, M Lauritsen, M Lee, M Pieretti, M Toichi, MA Geyer, MA Geyer, MA O'Riordan, Martha R. Herbert, MF Casanova, MH Johnson, MK Belmonte, MK Belmonte, MK Belmonte, ML Bauman, MR Picciotto, MR Young, MV Pletnikov, N Akshoomoff, N Risch, NL Ward, NR Mirza, NR Swerdlow, NR Swerdlow, O Marin, P Dalton, P Tueting, PH Patterson, PI Yakovlev, PK Todd, PM Whitaker-Azmitia, R DeLong, R Galvez, R Lalonde, R-A Müller, RA Carper, RA Corriveau, RC Belser, RE Amir, RI Kelley, RJ Schain, RM Carney, RN Leaton, RP Hobson, RP Warren, RP Warren, RP Warren, RT Schultz, S Alcantara, S Anderson, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Bobee, S Chakrabarti, S Gupta, S Jamain, S Ozonoff, S Stevens, S Tordjman, S Tordjman, SA Irwin, SA Irwin, SB Powell, SD Ugarte, SE Folstein, SE Folstein, SH Fatemi, SJ Kim, SJ Rogers, T Hashimoto, T Rogers, T Stühmer, T Stühmer, TA Comery, TH Wassink, TK Hensch, TM DeLorey, U Frith, U Frith, W Hirstein, W Reik, WT Greenough, Y Yu, YH Jiang, YH Jiang   +197 more
core   +1 more source

Structural biology of ferritin nanocages

FEBS Letters, EarlyView.
Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley   +1 more source

Antenatal screening for chromosomal and genetic abnormalities:Cost effectiveness and outcome [PDF]

Journal of Analytical Research in Clinical Medicine, 2018
Introduction: As an essential part of antenatal care, pregnant women of all ages should be offered screening for chromosomal abnormalities before 20 weeks of gestation.
Simin Tagavi, Hossein Alikhah, Sharareh Barband, Fereshteh Farhadi, Mohammad Naghavi-Behzad, Saeed Jodi-Khajeh, Sahar Mohammadi, Reza Piri   +7 more
doaj   +1 more source