Zobrazeno 1 - 10
of 110
pro vyhledávání: '"B. R. Haddad"'
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)
Abstract Glioblastoma (GBM) is an aggressive and incurable tumor of the brain with limited treatment options. Current first-line standard of care is the DNA alkylating agent temozolomide (TMZ), but this treatment strategy adds only ~4 months to media
Externí odkaz:
https://doaj.org/article/d04b39e1ba5c4c6ea68bb0a9360fff81
Autor:
Aubrey Milunsky, Vijay S. Tonk, Peter Osella, Bai-Lin Wu, James Skare, B R Haddad, Herman E. Wyandt
Publikováno v:
Clinical Genetics. 48:151-155
A 4-month-old child with multiple anomalies was determined to have an interstitial deletion of chromosome 15, i.e., del(15) (q12q14). The deletion appears not to be a typical deletion of 15q12 such as seen in Angelman and Prader-Willi syndromes, but
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b111d39bbca2a4a31d659e40599fd894
https://doi.org/10.1111/j.1399-0004.1995.tb04076.x
https://doi.org/10.1111/j.1399-0004.1995.tb04076.x
Autor:
P. Rizzu, M. T. Ferro, B. R. Haddad, Antonio Baldini, A. Alonso, J. M. Garcia-Sagredo, I. Vallcorba
Publikováno v:
American Journal of Medical Genetics. 68:428-432
We report on the clinical, cytogenetic, and molecular characterization of a propositus and his mother with a duplication of 3q25-q26, minor anomalies, and mental retardation. The duplication, detected by cytogenetic analysis, was confirmed and deline
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7ffd4ff46010342c35f54c4e5fecb704
https://doi.org/10.1002/(sici)1096-8628(19970211)68:4<428::aid-ajmg11>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19970211)68:4<428::aid-ajmg11>3.0.co
Autor:
F. Richards, G van den Engh, David Sillence, Brooke N. Bourdélat-Parks, Cheryl R. Greenberg, K. Nichol, Y P Goldberg, Michael R. Hayden, E. Almqvist, Leah LaTray, M. R. Hughes, H Telenius, B. R. Haddad, Elizabeth Ives, Sean Chong
Publikováno v:
Human Molecular Genetics. 6:301-309
New mutations for Huntington disease (HD) arise from intermediate alleles (IAs) with between 29 and 35 CAG repeats that expand on transmission through the paternal germline to 36 CAGs or greater. Using single sperm analysis, we have assessed CAG muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61f2dbe72a97d43bb1cfd3cfbc594e35
https://doi.org/10.1093/hmg/6.2.301
https://doi.org/10.1093/hmg/6.2.301
Autor:
L.C. Smith, M.R. Hughes, P. Rizzu, R.D. Knapp, Antonio Baldini, B. R. Haddad, Rachele Antonacci, Elizabeth A. Lindsay
Publikováno v:
Scopus-Elsevier
We have tested a new approach to comparative genomic hybridization (CGH) analysis using digital ratio images and eigenanalysis, which allows the recognition of consistent patterns along the chromosomes and discards random (background noise) patterns.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5045c471791d1d0d3d5b13ee8a044da9
https://doi.org/10.1159/000134126
https://doi.org/10.1159/000134126
Publikováno v:
Cytogenetic and genome research. 135(1)
The BH3-like motif-containing inducer of cell death (BLID) is an intronless gene localized on 11q24.1. Loss of that region has frequently been reported in early-onset breast cancer and is significantly associated with poor prognosis and reduced survi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::19639913f813ecabd58442ca696ec287
https://pubmed.ncbi.nlm.nih.gov/21846966
https://pubmed.ncbi.nlm.nih.gov/21846966
Publikováno v:
Genetic counseling (Geneva, Switzerland). 18(2)
A supernumerary ring chromosome was found on amniocentesis performed for advanced maternal age. A review of the literature found 34 reports of supernumerary ring chromosome I which are compared to our case.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c81745c95180a6162fd6914fbe27ef08
https://pubmed.ncbi.nlm.nih.gov/17710876
https://pubmed.ncbi.nlm.nih.gov/17710876
Publikováno v:
Cancer genetics and cytogenetics. 125(1)
We report a case of a lipoblastoma in a 10-month-old girl in which the cytogenetic aberration showed a homogeneously staining-like region (hsr) within two derivative chromosomes 8. There was a loss of one normal copy of chromosome 8 and gain of two i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::868befb8f5ce0a2b0bd9ab428a501afd
https://pubmed.ncbi.nlm.nih.gov/11297761
https://pubmed.ncbi.nlm.nih.gov/11297761
Publikováno v:
American journal of medical genetics. 91(4)
The authors report on a young girl with generalized developmental deficits originally thought to be caused by an unusual reaction to DPT vaccination. At the age of 4(1/2) years, chromosome analysis showed that the terminus of the short arm of chromos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bf65e5d0baae19791bf059511e86cbba
https://pubmed.ncbi.nlm.nih.gov/10766985
https://pubmed.ncbi.nlm.nih.gov/10766985
Autor:
B C, Figueiredo, C A, Stratakis, R, Sandrini, L, DeLacerda, M A, Pianovsky, C, Giatzakis, H M, Young, B R, Haddad
Publikováno v:
The Journal of clinical endocrinology and metabolism. 84(3)
Although several genes have been investigated in adrenal tumorigenesis, the genetic background of adrenocortical tumors (ACT) remains poorly characterized. In southern Brazil, the annual incidence of ACT is unusually high, ranging from 3.4-4.2/millio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d5d4b30d8b41ad584436736ac61ce093
https://pubmed.ncbi.nlm.nih.gov/10084604
https://pubmed.ncbi.nlm.nih.gov/10084604