Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Jill K, Northup"'
Autor:
Judy C. Hawkins, Lillian H. Lockhart, Reuben Matalon, Gopalrao V.N. Velagaleti, Jill K. Northup
Publikováno v:
European Journal of Medical Genetics. 54:e394-e398
Complex chromosome rearrangements (CCRs) are structural abnormalities involving >2 chromosomes or >3 breakpoints. It has been suggested that the probability of imbalance increases as the number of breakpoints increase. Here we report a 7-month-old, H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbe70c66779b7f2f17a086f3e41f8a02
https://doi.org/10.1016/j.ejmg.2011.03.011
https://doi.org/10.1016/j.ejmg.2011.03.011
Publikováno v:
American Journal of Medical Genetics Part A. :2578-2582
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::116ee3d128a5b5c9876dc41ea4ac6676
https://doi.org/10.1002/ajmg.a.32486
https://doi.org/10.1002/ajmg.a.32486
Autor:
Gopalrao V.N. Velagaleti, Karmaine Millington, S. David Hudnall, Jill K. Northup, Neli I. Panova
Publikováno v:
Experimental and Molecular Pathology. 84:189-193
Chromosome 1 pericentromeric heterochromatin (1q) has been shown to play an important role in the pathogenesis of non-Hodgkin lymphoma and multiple myeloma. Myelodysplastic syndrome (MDS) results from marrow failure in two or more cell lineages. Alth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41edee78d356a04e2f47cb64d63ab916
https://doi.org/10.1016/j.yexmp.2007.10.003
https://doi.org/10.1016/j.yexmp.2007.10.003
Publikováno v:
Experimental and Molecular Pathology. 83:484-489
We report the detailed features of a unique case of a 33-year-old male in whom a large percentage of marrow (68%) and blood (31%) cells carried the Philadelphia chromosome by cytogenetics and FISH, as well as the p210 BCR-ABL transcript by RT-PCR, fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ad4fe92f26db6e060ceb2546cec4c2a
https://doi.org/10.1016/j.yexmp.2007.08.006
https://doi.org/10.1016/j.yexmp.2007.08.006
Publikováno v:
European Journal of Haematology. 78:152-156
Cytogenetic evaluation of bone marrow and neoplastic tissues plays a critical role in determining patient management and prognosis. Here, we highlight two cases in which the cytogenetic studies challenge the common practice of using hematologic and m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ac899e9ff292da4dd867564419c8fe1a
https://doi.org/10.1111/j.1600-0609.2006.00798.x
https://doi.org/10.1111/j.1600-0609.2006.00798.x
Autor:
Robert C. Schutt, James R. Lupski, Golder N. Wilson, Pawel Stankiewicz, Vijay S. Tonk, Gopalrao V.N. Velagaleti, Svetlana A. Yatsenko, Jill K. Northup
Publikováno v:
American Journal of Medical Genetics Part A. :136-140
Chromosome deletions involving 1p36 are the most common known terminal rearrangements occurring at a frequency of ∼1 in 5,000 live births. In contrast, duplications of the same region have been reported rarely. We describe a familial rearrangement
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04686dfdd40704e094c2d4cb776c79e9
https://doi.org/10.1002/ajmg.a.30958
https://doi.org/10.1002/ajmg.a.30958
Publikováno v:
Clinical dysmorphology. 19(4)
Goldenhar syndrome, also called hemifacial microsomia or oculo-auriculo-verterbal dysplasia (OAVS) (MIM 164210), is a birth defect involving the first and second branchial arch derivatives with an incidence of 1/5000. The variable phenotype includes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50a3227a41cc71b883b90b13a63878e5
https://pubmed.ncbi.nlm.nih.gov/20571379
https://pubmed.ncbi.nlm.nih.gov/20571379
Autor:
Paul A.W. Edwards, Jill K. Northup, Susanna L. Cooke, Lillian H. Lockhart, Gopalrao V.N. Velagaleti, William Zinser, Neena L. Champaige
Publikováno v:
American journal of medical genetics. Part A. (9)
Human chromosome 8p is prone to recurrent rearrangements with inv dup del(8p) being most common. Each of these recurrent rearrangements is associated with different clinical manifestations. Some of these recurrent rearrangements at 8p are mediated by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2065e38fb550c50a6cf5d5622fa6df3
https://pubmed.ncbi.nlm.nih.gov/18302246
https://pubmed.ncbi.nlm.nih.gov/18302246
Publikováno v:
European journal of haematology. 78(2)
Cytogenetic evaluation of bone marrow and neoplastic tissues plays a critical role in determining patient management and prognosis. Here, we highlight two cases in which the cytogenetic studies challenge the common practice of using hematologic and m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9de0f607168cd87e91f26d51b64fac13
https://pubmed.ncbi.nlm.nih.gov/17313561
https://pubmed.ncbi.nlm.nih.gov/17313561
Autor:
Neli I. Panova, Elizabeth A. Jones, Hal K. Hawkins, Mahmoud A. Eltorky, Suimin Qiu, Gopalrao V.N. Velagaleti, Zhiqin Wang, Wendell W. Tang, Jill K. Northup
Publikováno v:
Experimental and molecular pathology. 82(1)
Cytogenetic and molecular studies have shown that approximately 80% of cases of alveolar rhabdomyosarcoma (ARMS) have consistent chromosomal translocation of either t(2;13) or t(1;13), resulting in either PAX3-FKHR or PAX7-FKHR gene fusions. However,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91cf5954c1b9882daeed8899ea5f0f50
https://pubmed.ncbi.nlm.nih.gov/17097083
https://pubmed.ncbi.nlm.nih.gov/17097083