Results 201 to 210 of about 57,200 (222)

the 11q13‐q14 amplicon: Clinicopathological correlations and potential drivers

Genes, Chromosomes and Cancer, 2012
AbstractAmplification at 11q13‐q14 is a common event in cancers from multiple anatomical sites. This complex amplicon has multiple cores and several genes have been put forward as potential “drivers.” In this review, based on the technical advancements of the last decade, which resulted in methods allowing for a deeper genomic and functional genomic ...
Wilkerson, PM, Reis-Filho, JS
openaire   +3 more sources

HMGA2 overexpression in polycythemia vera with t(12;21)(q14;q22)

Cancer Genetics and Cytogenetics, 2007
Chromosomal translocations involving the 12q14 band are rarely detected in hematological disorders, and are usually correlated with HMGA2 gene expression. HMGA2 is highly expressed during embryonic cell growth and differentiation, and regulates transcription and chromatin organization, but is rarely detectable in adult tissues.
ALIANO, STEFANIA, CIRMENA, GABRIELLA, GARUTI A, FUGAZZA, GIUSEPPINA, BRUZZONE, ROBERTO, ROCCO I, MALACARNE M, BALLESTRERO, ALBERTO, SESSAREGO, MARIO   +8 more
openaire   +2 more sources

Sublocalization of the human protein C gene on chromosome 2q13?q14

Human Genetics, 1989
The localization of human protein C gene on chromosome 2 was investigated by in situ hybridization using a partial cDNA for protein C. Silver-grain analysis indicates that the protein C gene is located on 2q13-q14.
PATRACCHINI P, AIELLO V, PALAZZI P, CALZOLARI E, BERNARDI, Francesco   +4 more
openaire   +3 more sources

Chromosome translocation (2;13) (q37;q14) in a disseminated alveolar rhabdomyosarcoma

European Journal of Pediatrics, 1988
Chromosome analysis of tumour cells in the bone marrow of a 13.5-year-old girl (without a primary tumour) revealed a pseudo-diploid or pseudo-tetraploid karyotype with a translocation involving the long arms of chromosomes 2 and 13: t(2;13)(q37;q14). This finding enabled the diagnosis of a disseminated alveolar rhabdomyosarcoma (RMS) to be established.
R, Engel, J, Ritterbach, D, Schwabe, F, Lampert   +3 more
openaire   +2 more sources

Reciprocal Translocation t(4;7)(q14;q28) in Cattle: Molecular Characterization

Cytogenetic and Genome Research, 2010
Cytogenetic analysis of a phenotypically normal young bull from the Marchigiana breed revealed the presence of an abnormal chromosome. The finding of one oversize chromosome in all metaphases, associated with a 2n = 60, XY karyotype, suggested that a reciprocal translocation had occurred. RBG-banding and FISH analyses, using specific bovine BAC probes,
L.A.M. De Lorenzi, O. Kopecna, S. Gimelli, H. Cernohorska, M. Zannotti, F. Béna, L. Molteni, J. Rubes, P. Parma   +8 more
openaire   +3 more sources

Familial t(11;13)(q21;q14) and the duplication 11q, 13q phenotype

American Journal of Medical Genetics, 1993
AbstractCases of duplication of distal 11q or proximal 13q have been reported independently. A specific translocation resulting in duplication of distal 11q, [der(22)t(11;22)(q23;q11)], has been documented in over 40 cases. We report on a male fetus with chromosomal excess of both distal 11q and proximal 13q resulting from a familial translocation ...
J P, Park, M K, McDermet, A M, Doody, J M, Marin-Padilla, J B, Moeschler, D H, Wurster-Hill   +5 more
openaire   +2 more sources

Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14

Graefe's Archive for Clinical and Experimental Ophthalmology, 1999
It has been previously described that Wagner disease is linked to chromosome 5q13-q14. This study was carried out to describe the ophthalmological aspects and report the results of genetic linkage analysis in a large pedigree affected by Wagner disease.Fourty members of one same family agreed to be examined.Twenty patients presented vitreoretinal ...
J C, Zech, L, Morlé, P, Vincent, N, Alloisio, M, Bozon, C, Gonnet, S, Milazzo, J D, Grange, C, Trepsat, J, Godet, H, Plauchu   +10 more
openaire   +2 more sources

Localization of the tumour protein, TP53, on porcine chromosome 12q12‐q14

Animal Genetics, 1993
SummaryA human cDNA probe of the tumour protein p53 (TP53) was used to localize the homologous porcine gene by in situ hybridization. The gene was mapped to chromosome 12q12‐q14. Together with already known mapping data, these results confirm the localization of an evolutionary conserved linkage group on porcine chromosome 12 which is localized in man ...
G, Rettenberger, C, Klett, H, Hameister
openaire   +2 more sources

Chromosomal Translocation t(1;13)(p36;q14) in a Case of Rhabdomyosarcoma

Genes, Chromosomes and Cancer, 1991
AbstractCytogenetic studies of a rhabdomyosarcoma of mixed embryonal and alveolar histology in an II ‐month‐old male revealed a single structural abnormality, t(1;13)(p36;q14). This abnormality may define a subset of patients with a variant of the t(2;13)(q35;q14) translocation frequently seen in alveolar rhabdomyosarcoma.
J A, Biegel, R S, Meek, A H, Parmiter, K, Conard, B S, Emanuel   +4 more
openaire   +2 more sources

A novel genetic locus for juvenile myoclonic epilepsy at chromosome 5q12–q14

Human Genetics, 2007
Juvenile myoclonic epilepsy is a clinically well-defined, age-related common idiopathic generalized epilepsy syndrome with substantial genetic basis to its etiology. We report identification of a novel epilepsy locus at chromosome 5q12-q14 in a family exhibiting autosomal dominant form of juvenile myoclonic epilepsy from south India.
Ashish, Kapoor, R, Ratnapriya, Gigy, Kuruttukulam, Anuranjan, Anand   +3 more
openaire   +2 more sources