Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Joyce T. Turner"'
Publikováno v:
Journal of Clinical Oncology. 40:1853-1860
The Oncology Grand Rounds series is designed to place original reports published in the Journal into clinical context. A case presentation is followed by a description of diagnostic and management challenges, a review of the relevant literature, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3836c86f24c5b539ba673b99ad1eb5fd
https://doi.org/10.1200/jco.22.00411
https://doi.org/10.1200/jco.22.00411
Publikováno v:
The Hereditary Basis of Childhood Cancer ISBN: 9783030744465
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::32f6b35782fab8dc7018f57efb590e11
https://doi.org/10.1007/978-3-030-74448-9_6
https://doi.org/10.1007/978-3-030-74448-9_6
Autor:
Kim M. Keppler-Noreuil, B. Maya Kato, James C. Mullikin, Catherine Blumhorst, Marjorie J. Lindhurst, Kimberly Hoag, Kevin O'Brien, Jennifer L. Cannons, Natasha Cherman, David Ng, Jennifer J. Johnston, Sergei A. Kuznetsov, Julie C Sapp, Thomas N. Darling, Steven S. Rothenberg, Roberto Tirabosco, Shlomo Wientroub, Elaine H. Zackai, Virender Singhal, Laurel C Blakemore, Matthew A. Deardorff, Pamela Gehron Robey, Kurt D. Newman, David B. Everman, Peter Calder, Joseph Upton, Douglas J. Schwartzentruber, Joyce T. Turner, Richard T. Miyamoto, Laura L. Tosi, Knut Brockmann, Tracey Whitewood-Neal, Gretchen Golas, Robert M. Greenstein, Leslie G. Biesecker, Kathryn F. Peters, Pamela L. Schwartzberg, Jamie K. Teer, David P. Bick, Erin M Finn
Publikováno v:
New England Journal of Medicine. 365:611-619
A b s t r ac t Background The Proteus syndrome is characterized by the overgrowth of skin, connective tissue, brain, and other tissues. It has been hypothesized that the syndrome is caused by somatic mosaicism for a mutation that is lethal in the non
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94a7e90d2316180970a4b2b63eb031a1
https://doi.org/10.1056/nejmoa1104017
https://doi.org/10.1056/nejmoa1104017
Autor:
Cynthia J. Curry, Margarita Raygada, Raoul C.M. Hennekam, Virginia Kimonis, John M. Graham, Alexa Kidd, David J. Amor, Helen Murphy, Annmarie Sommer, Salim Aftimos, Maureen Bocian, Amy Shealy, Michael T. Gabbett, Graeme C.M. Black, Susan Tomkins, Lakshmi Mehta, Bernhard Zabel, Michael Field, Joyce T. Turner, Margot I. Van Allen, Mark J. Stephan, Wendy E. Smith, Sally Ann Lynch, David Tilstra, Janice Zunich, Anne Chun Hui Tsai, Alan F. Rope, Pradeep Vasudevan, Kenneth N. Rosenbaum, Robert J. Hopkin, Julie C. Sapp, Moran Gal, Kyrieckos A. Aleck, Hülya Kayserili, Jennifer J. Johnston, Angela E. Lin, Julie McGaughran, Leslie G. Biesecker, G. Bradley Schaefer, Ruth Day, Joann Bodurtha, Ikuma Fujiwara, Heather J. Stalker, Dian Donnai, Melissa K. Maisenbacher, Peter Hedera, Maria Soller, Sahar Mansour, Nathaniel H. Robin, Joseph H. Hersh, Pamela Trapane, Gerald F. Cox, Bernhard Steiner
Publikováno v:
Human mutation, 31(10), 1142-1154. Wiley-Liss Inc.
A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 17
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9fbdce47ec67c7da912bab79883e550
https://doi.org/10.1002/humu.21328
https://doi.org/10.1002/humu.21328
Autor:
Jennifer R. Leib, Joyce T. Turner, Leslie G. Biesecker, Kathryn F. Peters, Barbara B. Biesecker
Publikováno v:
American Journal of Medical Genetics Part A. :2089-2097
Courtesy stigma refers to the stigmatization an unaffected person experiences due to his or her relationship with a person who bears a stigma. Parents of children with genetic conditions are particularly vulnerable to courtesy stigma, but little rese
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2d1ad01718c30aee2fe600a1708e94f
https://doi.org/10.1002/ajmg.a.31904
https://doi.org/10.1002/ajmg.a.31904
Autor:
Leslie G. Biesecker, Fleur S van Dijk, Jiddeke M. van de Kamp, Julie C. Sapp, R. Brian Lowry, Joyce T. Turner
Publikováno v:
American Journal of Medical Genetics Part A. :2944-2958
We present a series of seven patients who were previously diagnosed with Proteus syndrome, but who do not meet published diagnostic criteria for this disorder and whose natural history is distinct from that of Proteus syndrome. This newly recognized
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::865fb9c0256e5b37f3114cf052b569ed
https://doi.org/10.1002/ajmg.a.32023
https://doi.org/10.1002/ajmg.a.32023
Publikováno v:
RadioGraphics. 24:1051-1068
Proteus syndrome is a sporadic disorder named for its highly variable manifestations. The disease causes tissue overgrowth in a mosaic pattern and may affect tissues derived from any germinal layer. The disease process is not usually apparent at birt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6355a0ede148211cca5404b8325c7c8
https://doi.org/10.1148/rg.244035726
https://doi.org/10.1148/rg.244035726
Autor:
Leslie G. Biesecker, Amalia Dutra, Takaya Nakane, Dzifa Kpodzo, Anne Slavotinek, Joyce T. Turner, Evgenia Pak, Margo L. Whiteford, Pamela Stratton
Publikováno v:
American Journal of Medical Genetics Part A. :69-72
We report a 19-year-old, non-Amish Caucasian female patient with primary amenorrhea caused by complete lack of Mullerian fusion with vaginal agenesis or Mullerian aplasia (MA), postaxial polydactyly (PAP), and tetralogy of Fallot. The genital tract a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dfe1c9ae26be74ade6076518cb985cab
https://doi.org/10.1002/ajmg.a.30071
https://doi.org/10.1002/ajmg.a.30071
Autor:
J. Edward Spence, Lynne M. Bird, Joyce T. Turner, R. Neil Schimke, Heidi A. Heilstedt, Lakshmi Mehta, Leslie G. Biesecker, Jan Blancato, Jennifer J. Johnston, Isabelle M. Olivos-Glander, Kyrieckos A. Aleck
Publikováno v:
American Journal of Medical Genetics. :236-242
Greig cephalopolysyndactyly syndrome (GCPS) is caused by haploinsufficiency of GLI3 on 7p13. Features of GCPS include polydactyly, macrocephaly, and hypertelorism, and may be associated with cognitive deficits and abnormalities of the corpus callosum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3508be1875076c60b3bbaba832677d8
https://doi.org/10.1002/ajmg.a.20318
https://doi.org/10.1002/ajmg.a.20318
Autor:
Joyce T. Turner, Matthew W. Kelley, Elizabeth C. Driver, Shannon P. Pryor, Patrick Hill, Ulrich Rüther, Leslie G. Biesecker, Andrew J. Griffith
Auditory perception is mediated through a finite number of mechanosensory hair cells located in a specialized sensory epithelium within the inner ear. The formation of the appropriate number of hair cells and the location of those cells is crucial fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e785c9241d91cc75e3372bad0502ebb9
https://europepmc.org/articles/PMC2581462/
https://europepmc.org/articles/PMC2581462/