Výsledky vyhledávání - "R. E. Magenis"

Demonstration of Philadelphia chromosome negative abnormal clones in patients with chronic myelogenous leukemia during major cytogenetic responses induced by imatinib mesylate

Autor: Marc M. Loriaux, Helen J. Lawce, Ken Gatter, Brian J. Druker, R E Magenis, Michael O'Dwyer, Rita M. Braziel, Susan B. Olson, Michael J. Mauro, Richard T. Maziarz

Publikováno v: Leukemia. 17:481-487

Imatinib mesylate, an Abl-specific kinase inhibitor, produces sustained complete hematologic responses (CHR) and major cytogenetic responses (MCR) in chronic myeloid leukemia (CML) patients, but long-term outcomes in these patients are not yet known.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26a1287e07b1cb0c5491ca16b6c39f34
https://doi.org/10.1038/sj.leu.2402848

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Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/Angelman syndrome region by traditional and molecular cytogenetics

Autor: Leff S, Kesner D, R. E. Magenis, Webb Mj, Helen J. Lawce, Berry T, Susan B. Olson, S. Toth-Fejel, Comegys B, Michael G. Brown

Publikováno v: American Journal of Medical Genetics. 55:444-452

With improvements in culturing and banding techniques, amniotic fluid studies now achieve a level of resolution at which the Prader-Willi syndrome (PWS) and Angelman syndrome (AS) region may be questioned. Chromosome 15 heteromorphisms, detected with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc1fc1020e5531f0504e94c3d4358c3c
https://doi.org/10.1002/ajmg.1320550411

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Mapping of the ACTH, MSH, and neural (MC3 and MC4) melanocortin receptors in the mouse and human

Autor: Leslie Smith, Kenneth R. Johnson, Roger D. Cone, Kathleen G. Mountjoy, R. E. Magenis, Joseph H. Nadeau

Publikováno v: Mammalian Genome. 5:503-508

The melanocortin peptides regulate a wide variety of physiological processes, including pigmentation and glucocorticoid production, and also have several activities in the central and peripheral nervous systems. The melanocortin receptor family inclu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f9c7440d25ec8298acd73912f15d075
https://doi.org/10.1007/bf00369320

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Intrachromosomal location of the telomeric repeat (TTAGGG)n

Autor: R. E. Magenis, Leslie Smith, Michael R. Hayden, L. Allen, P. J. Goodfellow, Bernhard H. F. Weber

Publikováno v: Mammalian Genome. 1:211-216

Eukaryotic telomeres are specialized DNA-protein structures that are thought to ensure chromosomal stability and complete replication of the chromosome ends. All telomeres which have been studied consist of a tandem array of G-rich repeats which seem

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55eed35bc9c7e38f35c2caac60302dbc
https://doi.org/10.1007/bf00352327

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Rearrangement of chromosome 15 in the region q11.2→q12 in an individual with obesity syndrome and her normal mother

Autor: T. Mohandas, M. B. Davidson, Tamar Shohat, R. E. Magenis, David L. Rimoin, M. Shohat, Julie R. Korenberg, J. Heckenlively

Publikováno v: American Journal of Medical Genetics. 37:173-177

Rearrangements of the proximal long arm of chromosome 15 have been found in most patients with the Prader-Willi syndrome (PWS) and in some with Angelman syndrome. We present an individual with syndromic obesity and her normal mother, who both have an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b19c80ad2816414d9265b249567881e4
https://doi.org/10.1002/ajmg.1320370203

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Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences

Autor: S. Toth-Fejel, J. M. Friedman, Jonathan Zonana, R. E. Magenis, Michael G. Brown, R. Cohen, J. Macfarlane, D. Lacy, Sarojini S. Budden, Dagmar K. Kalousek, Stephen H. LaFranchi, C. P. S. Williams, L. Allen, M. Lahr, Mary Helen Black

Publikováno v: American Journal of Medical Genetics. 35:333-349

It has recently been shown that apparently similar deletions of chromosome 15q occur commonly in the Prader-Willi and Angelman syndromes. The distinctness of the syndromes suggests that the deletions are not identical. To address this possibility, th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04ad88bf663e2d170fc22f8caa2191e3
https://doi.org/10.1002/ajmg.1320350307

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Trisomy 20 mosaicism in two unrelated girls with skin hypopigmentation and normal intellectual development

Autor: B J, Baty, S B, Olson, R E, Magenis, J C, Carey

Publikováno v: American journal of medical genetics. 99(3)

The prenatal diagnosis of trisomy 20 mosaicism presents a challenge for practitioners and parents. The diagnosis implies an uncertain risk for an inconsistent set of physical and developmental findings, as well as a substantial chance for a child tha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5addc2ec1a1154577ad560675f4a67d0
https://pubmed.ncbi.nlm.nih.gov/11241492

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Chromosome abnormalities of eighty-one pediatric germ cell tumors: sex-, age-, site-, and histopathology-related differences--a Children's Cancer Group study

Autor: K J, Bussey, H J, Lawce, S B, Olson, D C, Arthur, D K, Kalousek, M, Krailo, R, Giller, S, Heifetz, R, Womer, R E, Magenis

Publikováno v: Genes, chromosomescancer. 25(2)

The chromosomes of 81 pediatric germ cell tumors (GCTs) were analyzed as part of two clinical treatment trials, INT-0098 and INT-0097, conducted by the Children's Cancer Group. The analysis of chromosome results showed differences with respect to sex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::72370dff88a747bfcafdc6a50ed613f1
https://pubmed.ncbi.nlm.nih.gov/12236149

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Clinical outcomes of four patients with microdeletion in the long arm of chromosome 2

Autor: K D, McMilin, J A, Reiss, M G, Brown, M H, Black, D A, Buckmaster, C T, Durum, K A, Gunter, H J, Lawce, T L, Berry, O A, Lamb, C L, Olson, F F, Weeks, M J, Yoshitomi, P B, Jacky, S B, Olson, R E, Magenis

Publikováno v: American journal of medical genetics. 78(1)

We present clinical outcome, through several years of follow-up, of 4 mentally retarded patients, each with a small interstitial deletion in the long arm of chromosome 2, within a region on which clinical reports are infrequent. Our patient 1 was fou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::57a4fb4edcd1aa1c895887f6e296f4f8
https://pubmed.ncbi.nlm.nih.gov/9637421

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DNA cross-linker-induced G2/M arrest in group C Fanconi anemia lymphoblasts reflects normal checkpoint function

Autor: M C, Heinrich, M E, Hoatlin, A J, Zigler, K V, Silvey, A C, Bakke, W W, Keeble, Y, Zhi, C A, Reifsteck, M, Grompe, M G, Brown, R E, Magenis, S B, Olson, G C, Bagby

Publikováno v: Blood. 91(1)

Cells from individuals with Fanconi anemia (FA) arrest excessively in the G2/M cell cycle compartment after exposure to low doses of DNA cross-linking agents. The relationship of this abnormality to the fundamental genetic defect in such cells is unk

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::250744269b53d916baacbb234521a03b
https://pubmed.ncbi.nlm.nih.gov/9414295

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