نتایج جستجو برای: fish cytogenetics

تعداد نتایج: 112799  

Journal: :Journal of medical genetics 2002
S J Waite N S Thomas J C K Barber

The 22q11 deletion syndrome has been described by the acronym “CATCH 22” (Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia resulting from 22q11 deletions). Previous studies have indicated that other features such as growth retardation, developmental delay, renal abnormalities, psychiatric problems, and neurological abnormalities may also be associated with th...

Journal: :Annals of clinical and laboratory science 2000
A B Glassman V Hopwood K J Hayes

Multiple classifications of lymphomas are available. Generally, distinctions are made to identify low, intermediate, and high-risk groups. Histopathologic differentiation is at times difficult. The revised European-American lymphoma classification (REAL) uses histology, clusters of differentiation markers, histochemistry, and cytogenetics for definitive identification. This work reviews the kar...

2017
Seyed Mojtaba Mohaddes Shohreh Shargh Simin Tagavi

Background: Mosaic form of turner syndrome that represented by two or more cell lines in an affected individual, often has limitation for detection with classical cytogenetic methods. The present study was carried out to compare the efficiency of interphase Fluorescence In Situ Hybridisation (FISH) and cytogenetic techniques in detection of mosaic form of turner syndrome Methods: All candidate ...

2018
Naery Yang Yeung Chul Mun Chu-Myong Seong Hee Jin Huh Jungwon Huh

In multiple myeloma (MM), hyperdiploidy (HD) is known to impart longer overall survival. However, it is unclear whether coexistent HD ameliorates the adverse effects of known high-risk cytogenetics in MM patients. To address this issue, we investigated the clinicopathological characteristics of HD with high-risk cytogenetics in MM. Ninety-seven patients with MM were included in the study. For m...

Journal: :Environmental Health Perspectives 1997
I Sorokine-Durm V Durand A Le Roy N Paillole L Roy P Voisin

From 1995 to 1996 about 15 people suspected of being overexposed to ionizing radiation were referred to the Institute for Nuclear Safety and Protection in Fontenay-aux-Roses, France, for investigation by chromosome aberration analysis. Biological estimates of accidental overexposure were first obtained by scoring radio-induced unstable structural chromosome aberrations (dicentrics, centric ring...

2013
Farah Y AbdElmontalab Elmula I Fadl HM Abushama K Kreskowski T Liehr

Meningioma is the second most common adult central nervous system tumor. Mutations and/or deletions within the tumor suppressor gene neurofibromatosis type 2 (NF2) are associated with meningioma development and progression. We studied 29 meningioma samples by cytogenetic analysis and interphase fluorescence in situ hybridization (I-FISH) using a locus-specific probe for the NF2 gene region. We ...

Journal: :Expert reviews in molecular medicine 2000
N McNeil T Ried

Molecular cytogenetic techniques that are based on fluorescence in situ hybridisation (FISH) have become invaluable tools for the diagnosis and identification of the numerous chromosomal aberrations that are associated with neoplastic disease, including both haematological malignancies and solid tumours. FISH can be used to identify chromosomal rearrangements, by detecting specific DNA sequence...

Journal: :Annals of oncology : official journal of the European Society for Medical Oncology 2005
S-Y Huang M Yao J-L Tang W Tsay F-Y Lee M-C Liu C-H Wang Y-C Chen M-C Shen H-F Tien

BACKGROUND The incidence of multiple myeloma (MM) is lower in Asia than in Western countries. However, it is not known whether cytogenetic abnormalities (CA) characteristic of MM in Asia differ from those documented in the West. PATIENTS AND METHODS We analyzed CA by conventional cytogenetics (CG) and/or fluorescence in situ hybridization (FISH), assessed their clinical significance in 150 Ch...

Journal: :Human reproduction 2006
D Bettio A Venci N Rizzi L Negri P Levi Setti

Isodicentrics (idic) are structural anomalies of the Y chromosome associated with a 45,X cell line and a broad spectrum of phenotypes. We characterized the rearranged Y chromosomes from three azoospermic males by fluorescence in-situ hybridization (FISH) and PCR. Chromosome study was performed on lymphocytes and testicular biopsy. FISH analysis and PCR established the degree of mosaicism and an...

Journal: :Blood 2012
Gian Matteo Rigolin Francesca Cibien Sara Martinelli Luca Formigaro Lara Rizzotto Elisa Tammiso Elena Saccenti Antonella Bardi Francesco Cavazzini Maria Ciccone Ilaria Nichele Giovanni Pizzolo Francesco Zaja Renato Fanin Piero Galieni Alessia Dalsass Francesca Mestichelli Nicoletta Testa Massimo Negrini Antonio Cuneo

It is unclear whether karyotype aberrations that occur in regions uncovered by the standard fluorescence in situ hybridization (FISH) panel have prognostic relevance in chronic lymphocytic leukemia (CLL). We evaluated the significance of karyotypic aberrations in a learning cohort (LC; n = 64) and a validation cohort (VC; n = 84) of patients with chronic lymphocytic leukemia with "normal" FISH....

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