نتایج جستجو برای: array cgh

تعداد نتایج: 134291  

Journal: :Indian journal of experimental biology 2009
Joris Andrieux Frenny Sheth

The last decade has witnessed an upsurge in the knowledge of cytogenetic disorders and putting the old technology in a new basket with molecular genetics. As conventional cytogenetic can detect the genetic alteration of 10-15 Mb, many of the micro-deletions and micro-duplications are missed. However, with the advent of technology of fluorescence in situ hybridization (FISH), the resolution of g...

Journal: :Human molecular genetics 2003
Wei Yu Blake C Ballif Catherine D Kashork Heidi A Heilstedt Leslie A Howard Wei-Wen Cai Lisa D White Wenbin Liu Arthur L Beaudet Bassem A Bejjani Chad A Shaw Lisa G Shaffer

Chromosomal abnormalities, such as deletions and duplications, are characterized by specific and often complex phenotypes resulting from an imbalance in normal gene dosage. However, routine chromosome banding is not sensitive enough to detect subtle chromosome aberrations (<5-10 Mb). Array-based comparative genomic hybridization (array CGH) is a powerful new technology capable of identifying ch...

Journal: :Briefings in functional genomics & proteomics 2003
Antoine M Snijders Daniel Pinkel Donna G Albertson

The majority of human cancers as well as many developmental abnormalities harbour chromosomal imbalances, many of which result in the gain and/or loss of genomic material. Conventional comparative genomic hybridisation (CGH) has been used extensively to map DNA copy number changes to chromosomal positions. The introduction of microarray CGH provided a powerful tool to precisely detect and quant...

2012
Aparna Prasad Daniele Merico Bhooma Thiruvahindrapuram John Wei Anath C. Lionel Daisuke Sato Jessica Rickaby Chao Lu Peter Szatmari Wendy Roberts Bridget A. Fernandez Christian R. Marshall Eli Hatchwell Peggy S. Eis Stephen W. Scherer

The identification of rare inherited and de novo copy number variations (CNVs) in human subjects has proven a productive approach to highlight risk genes for autism spectrum disorder (ASD). A variety of microarrays are available to detect CNVs, including single-nucleotide polymorphism (SNP) arrays and comparative genomic hybridization (CGH) arrays. Here, we examine a cohort of 696 unrelated ASD...

Journal: :Arquivos De Neuro-psiquiatria 2023

Case presentation: Comparative genomic hybridization based on microarrays (array CGH) is a reality in clinical practice the neuropediatric population. It allows high-resolution assessment of DNA copy number changes associated with chromosomal abnormalities. Objective: To highlight importance using technique investigation patients diverse phenotypes. Methods: Series case studies.

Journal: :Diagnostic molecular pathology : the American journal of surgical pathology, part B 2004
Jeff D Harvell Sabine Kohler Shirley Zhu Tina Hernandez-Boussard Jonathan R Pollack Matt van de Rijn

Distinguishing between Spitz nevus and melanoma presents a challenging task for clinicians and pathologists. Most of these lesions are submitted entirely in formalin for histologic analysis by conventional hematoxylin and eosin-stained sections, and fresh-frozen material for ancillary studies is rarely collected. Molecular techniques, such as comparative genomic hybridization (CGH), can detect ...

Journal: :Journal of the National Cancer Institute 2007
Liesbeth Hameetman Karoly Szuhai Ayse Yavas Jeroen Knijnenburg Mark van Duin Herman van Dekken Antonie H M Taminiau Anne-Marie Cleton-Jansen Judith V M G Bovée Pancras C W Hogendoorn

BACKGROUND Multiple osteochondromas is a hereditary syndrome that is characterized by the formation of cartilage-capped bony neoplasms (osteochondromas), for which exostosis (multiple)-1 (EXT1) has been identified as a causative gene. However, 85% of all osteochondromas present as solitary (nonhereditary) lesions in which somatic mutations in EXT1 are extremely rare, but loss of heterozygosity ...

Journal: :Haematologica 2009
Ichiro Takeuchi Hiroyuki Tagawa Akira Tsujikawa Masao Nakagawa Miyuki Katayama-Suguro Ying Guo Masao Seto

BACKGROUND The differentiation of biologically and clinically different malignant lymphoma diseases or subtypes is crucial because it leads to better prognostication and therapeutic decision-making. Attempts have been made at subtype classification for diagnosing lymphomas on the basis of gene-expression profiling. Although array-based comparative genomic hybridization (array CGH) has identifie...

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