Zobrazeno 1 - 10
of 103
pro vyhledávání: '"R. Ellen Magenis"'
Autor:
Sarah H. Elsea, Gordon C. Gowans, Stephen R. Williams, Vazken M. Der Kaloustian, R. Ellen Magenis, Sara Zondag, Helga V. Toriello, Micheala A. Aldred, D. Ross McLeod, Fahed Halal
Publikováno v:
The American Journal of Human Genetics. 87:219-228
Brachydactyly mental retardation syndrome (BDMR) is associated with a deletion involving chromosome 2q37. BDMR presents with a range of features, including intellectual disabilities, developmental delays, behavioral abnormalities, sleep disturbance,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c482e9f8ce451b8a3339e082264dacd
https://doi.org/10.1016/j.ajhg.2010.07.011
https://doi.org/10.1016/j.ajhg.2010.07.011
Autor:
Sarah H. Elsea, Santhosh Girirajan, Lorraine Potocki, Weimin Bi, James R. Lupski, R. Ellen Magenis, Barbara Szomju, Helen V. Firth, G. Mustafa Saifi, Xin Shi
Publikováno v:
American Journal of Medical Genetics Part A. :2454-2463
Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation disorder characterized by distinct craniofacial features and neurobehavioral abnormalities usually associated with an interstitial deletion in 17p11.2. Heterozygous po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75227df030adb482477a449ff3faa634
https://doi.org/10.1002/ajmg.a.31510
https://doi.org/10.1002/ajmg.a.31510
Autor:
Arthur L. Beaudet, L.A.E.M. Laan, Albert Schinzel, Jane Summers, Jill Clayton-Smith, Joseph Wagstaff, Charles A. Williams, R. Ellen Magenis, Joan H.M. Knoll, Martin Kyllerman, Ann Moncla
Publikováno v:
American Journal of Medical Genetics Part A. :413-418
In 1995, a consensus statement was published for the purpose of summarizing the salient clinical features of Angelman syndrome (AS) to assist the clinician in making a timely and accurate diagnosis. Considering the scientific advances made in the las
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4d71ac9fdb048363211f0a02809d358
https://doi.org/10.1002/ajmg.a.31074
https://doi.org/10.1002/ajmg.a.31074
Autor:
Nancy Unsworth, Michael G. Brown, Helen J. Lawce, Sarah Shuttleworth, R. Ellen Magenis, Stephen Kelson, Luke Boyd
Publikováno v:
American Journal of Medical Genetics Part A. :181-184
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c8e0a477f645819d61b50897aa7db58
https://doi.org/10.1002/ajmg.a.30819
https://doi.org/10.1002/ajmg.a.30819
Autor:
R. Ellen Magenis, Robert S. Wildin, Leesa M. Linck, Michael G. Brown, Joseph T. Gilhooly, Luke Boyd, Joseph S. Livingston, De-Ann M. Pillers, Helen J. Lawce
Publikováno v:
American Journal of Medical Genetics Part A. :355-360
Meiotic recombination occurs between homologous euchromatic regions of human chromosomes in early meiosis. However, such exchanges have been thought not to occur in the stalk regions of acrocentric chromosomes. We describe a child whose chromosome an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2177b3c7cd78385f5253954df33c1c0
https://doi.org/10.1002/ajmg.a.30895
https://doi.org/10.1002/ajmg.a.30895
Autor:
Atiya Mansoor, Eleanor Himoe, R. Ellen Magenis, Helen J. Lawce, Misty M. Payne, Nisreen Fidda
Publikováno v:
Cancer Genetics and Cytogenetics. 152:61-65
Myxoinflammatory fibroblastic sarcoma is a rare, recently described, and distinctive low-grade tumor of soft tissue. To our knowledge, there is only one previous report on the cytogenetics of this tumor. That case showed complex structural abnormalit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6aa23795847906e9d23a75dc166e5516
https://doi.org/10.1016/j.cancergencyto.2003.10.004
https://doi.org/10.1016/j.cancergencyto.2003.10.004
Autor:
Charles L. Sawyers, Teresa M. Launder, R. Ellen Magenis, Rita M. Braziel, Susan B. Olson, Michael J. Mauro, Michael O'Dwyer, Ronald Paquette, Brian J. Druker
Publikováno v:
Blood. 100:435-441
Imatinib mesylate, an Abl kinase inhibitor, produces sustained complete hematologic responses (CHRs) in chronic myelogenous leukemia (CML) patients, but the sequence and timing of morphologic and cytogenetic changes in CML patients during prolonged i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4d2fb1e0baaf582b96841d773423506
https://doi.org/10.1182/blood.v100.2.435
https://doi.org/10.1182/blood.v100.2.435
Publikováno v:
American Journal of Medical Genetics. 99:210-216
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=doi_________::6a3f6272d2eaecc442c30b6fd70613e4
https://doi.org/10.1002/1096-8628(2001)9999:9999<::aid-ajmg1166>3.0.co
https://doi.org/10.1002/1096-8628(2001)9999:9999<::aid-ajmg1166>3.0.co