Results 71 to 80 of about 314,830 (333)

Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings

Animals, 2021
Clinical cytogenetic studies in horses have been ongoing for over half a century and clearly demonstrate that chromosomal disorders are among the most common non-infectious causes of decreased fertility, infertility, and congenital defects.
Monika Bugno-Poniewierska, Terje Raudsepp   +1 more
doaj   +1 more source

Exploration of heterogeneity and recurrence signatures in hepatocellular carcinoma

Molecular Oncology, EarlyView.
This study leveraged public datasets and integrative bioinformatic analysis to dissect malignant cell heterogeneity between relapsed and primary HCC, focusing on intercellular communication, differentiation status, metabolic activity, and transcriptomic profiles.
Wen‐Jing Wu, Jianchao Wang, Fuqing Chen, Xuefeng Wang, Bin Lan, Ruyi Fu, Hong Wen, Fangfang Chen, Wei Hong, Tian‐Yu Tang, Ying He, Gang Chen, Jianyin Zhou, Hai‐Long Piao, Di Chen, Shu‐Yong Lin   +15 more
wiley   +1 more source

Chromosome Transplantation: A Possible Approach to Treat Human X-linked Disorders

Molecular Therapy: Methods & Clinical Development, 2020
Many human genetic diseases are associated with gross mutations such as aneuploidies, deletions, duplications, or inversions. For these “structural” disorders, conventional gene therapy, based on viral vectors and/or on programmable nuclease-mediated ...
Marianna Paulis, Lucia Susani, Alessandra Castelli, Teruhiko Suzuki, Takahiko Hara, Letizia Straniero, Stefano Duga, Dario Strina, Stefano Mantero, Elena Caldana, Lucia Sergi Sergi, Anna Villa, Paolo Vezzoni   +12 more
doaj  

Screening for fetal chromosomal and subchromosomal disorders [PDF]

Seminars in Fetal and Neonatal Medicine, 2018
Screening for fetal chromosomal disorders has evolved greatly over the last four decades. Initially, only maternal age-related risks of aneuploidy were provided to patients. This was followed by screening with maternal serum analytes and ultrasound markers, followed by the introduction and rapid uptake of maternal plasma cell-free DNA-based screening ...
Neeta L. Vora, Dallas Reed, Sarah Harris
openaire   +3 more sources

Focus on 16p13.3 Locus in colon cancer [PDF]

, 2015
Background : With one million new cases of colorectal cancer (CRC) diagnosed annually in the world, CRC is the third most commonly diagnosed cancer in the Western world.
Ceelen, Wim, Claes, Kathleen, De Man, Marc, De Ruyck, Kim, Ferdinande, Liesbeth, Fieuw, Annelies, Geboes, Karen, Laurent, Stéphanie, Mampaey, Evi, Pattyn, Piet, Van Laethem, Thalia, Van Nieuwenhove, Yves, Van Roy, Nadine   +12 more
core   +4 more sources

Tonic signaling of the B‐cell antigen‐specific receptor is a common functional hallmark in chronic lymphocytic leukemia cell phosphoproteomes at early disease stages

Molecular Oncology, EarlyView.
B‐cell chronic lymphocytic leukemia (B‐CLL) and monoclonal B‐cell lymphocytosis (MBL) show altered proteomes and phosphoproteomes, analyzed using mass spectrometry, protein microarrays, and western blotting. Identifying 2970 proteins and 316 phosphoproteins, including 55 novel phosphopeptides, we reveal BCR and NF‐kβ/STAT3 signaling in disease ...
Paula Díez, Pablo Juanes‐Velasco, Marina L. García‐Vaquero, Conrad Droste, Alicia Landeira‐Viñuela, Miguel Alcoceba, Helena Fidalgo‐Gómez, Sara Misiego‐Herrero, Almudena Navarro‐Bailón, Mónica Baile, José M. Bastida, Jose Manuel Sanchez‐Santos, Rafael Góngora, Julia Almeida, Marcos Gonzalez‐Diaz, Alberto Orfao, Javier De Las Rivas, Manuel Fuentes   +17 more
wiley   +1 more source

Marcadores ultrasonográficos como signos predictivos de cromosomopatías en el período fetal precoz

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016
Fundamento: los estudios ecográficos se utilizan en el diagnóstico fetal precoz. Mediante marcadores ultrasonográficos se puede determinar un número importante de defectos congénitos.Objetivo: describir la utilidad de los marcadores ultrasonográficos en ...
Sandor Varela Iraola, Kenia Pérez de Zayas, Héctor Ignacio Pimentel Benítez, Maby Cruz Morales, Miosotis de Lourdes Fernández Lastre   +4 more
doaj  

Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report

Molecular Cytogenetics, 2009
Autism spectrum disorders have been associated with maternally derived duplications that involve the imprinted region on the proximal long arm of chromosome 15.
Liu Dahai, Dorrani Naghmeh, Driscoll Jennette, Wang Nicholas J, Wu David J, Sigman Marian, Schanen N Carolyn   +6 more
doaj   +1 more source

Chromosomal disorders - Karyotype indications [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
IConstitutional chromosomal disorders I-1. Incidence I-2. Etiology I-2.1 Genetic factors I-2. 1. 1. Chromosomal factors I-2. 1. 2. Genetic factors I-2. 2. Parental age I-2. 3. Environmental factors IIKaryotype indications II-1. Synopsis II-1.1 Karyotype II-1.2 Fluorescent in situ hybrization (FISH) II-2. Indications II-2.1.
Huret, JL, Dallaire, L
openaire   +3 more sources

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. [PDF]

, 2015
Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females ...
Amor, David J, Bui, Quang M, Francis, David, Godler, David E, Hagerman, Randi J, Herlihy, Amy S, Hopper, John L, Inaba, Yoshimi, Li, Xin, Metcalfe, Sylvia A, Schwartz, Charles E, Shi, Elva Z, Skinner, Cindy, Slater, Howard R   +13 more
core   +2 more sources