Zobrazeno 1 - 10
of 10
pro vyhledávání: '"JoAnn Bergoffen"'
Autor:
Douglas A. Corley, Natalia Udaltsova, Dan Li, Elizabeth Hoodfar, Yun-Yi Hung, Sheng-Fang Jiang, Robin J. Baker, Nhung P. Pham, Theodore R. Levin, Mary Anne Armstrong, Uri Ladabaum, Debbie Postlethwaite, JoAnn Bergoffen, Yves Jodesty
Publikováno v:
Annals of internal medicine. 171(1)
Guidelines recommend screening all patients with newly diagnosed colorectal cancer (CRC) for Lynch syndrome (LS). However, the efficiency of universal LS screening in elderly populations has not been well studied.To compare the performance of age-res
Autor:
Sheng-Fang Jiang, Uri Ladabaum, Theodore R. Levin, Mary Anne Armstrong, Nhung P. Pham, Douglas A. Corley, Yun-Yi Hung, Dan Li, Natalia Udaltsova, Yves Jodesty, Debbie Postlethwaite, Elizabeth Hoodfar, JoAnn Bergoffen, Robin J. Baker
Publikováno v:
Gastroenterology. 154:S-205
Autor:
Rosemary Ekong, Sue Povey, JoAnn Bergoffen, Stephanie E. Vallee, Jacinta Dzarir, Kay Metcalfe, Marjolein Wentink, Mark Nellist, Vandana Shashi, Stefan Krueger, Kira A. Dies, Concha Vidales, Marianne Hoogeveen-Westerveld, Ans M.W. van den Ouweland, Melika Mozaffari, Frances Elmslie, Anneke Maat-Kievit, Julian R. Sampson, Diana van den Heuvel, Dicky J. J. Halley, David J. Kwiatkowski, Javier García-Planells, Johan T. den Dunnen
Publikováno v:
Human Mutation, 32(4), 424-435
Human Mutation, 32(4), 424-435. Wiley-Liss Inc.
Human Mutation
Human Mutation, Wiley, 2011, 32 (4), pp.424. ⟨10.1002/humu.21451⟩
Human Mutation, 32(4), 424-435. Wiley-Liss Inc.
Human Mutation
Human Mutation, Wiley, 2011, 32 (4), pp.424. ⟨10.1002/humu.21451⟩
The effects of missense changes and small in-frame deletions and insertions on protein function are not easy to predict, and the identification of such variants in individuals at risk of a genetic disease can complicate genetic counselling. One optio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c68e6b702c822e8e9c798870994470e0
http://hdl.handle.net/1887/118076
http://hdl.handle.net/1887/118076
Autor:
Hope H. Punnett, JoAnn Bergoffen, Arthur J. Ross, Elaine H. Zackai, Eduardo Ruchelli, Tamberly J. Campbell
Publikováno v:
The Journal of Pediatrics. 122:603-606
Twelve infants with diaphragmatic hernias plus other anomalies who had mosaicism for tetrasomy isochromosome 12p (Pallister-Killian syndrome) are reviewed. A newborn infant with a diaphragmatic hernia plus dysmorphic features and a normal peripheral
Autor:
Ann Stembridge, Glenn Miller, Brian Allen, Ronald P. Bachman, James R. Gum, Jonathan P. Terdiman, Neil W. Toribara, Vivian Weinberg, Peggy Conrad, JoAnn Bergoffen, Marvin H. Sleisenger, Young S. Kim, Theodore R. Levin, Andrea A. Fishbach
Publikováno v:
Gastroenterology. 122(4)
Background & Aims: Early onset colorectal cancer (CRC) is an important feature of hereditary nonpolyposis colorectal cancer (HNPCC). We sought to compare rates of genetically defined HNPCC among individuals with early onset CRC drawn from a high-risk
Autor:
Mitsuo Masuno, Susan A. Berry, JoAnn Bergoffen, Niklas Dahl, Richard J. Gibbons, Kenji Kurosawa, Douglas R. Higgs, Alan Fryer, Giovanni Neri, Salim Aftimos, Satvinder Bachoo, Kim Keppler, Sarah F. Slaney, David J. Picketts, Mary Ella M Pierpont, Michael L. Levin, Bernhard Asenbauer
Publikováno v:
Scopus-Elsevier
Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain.
Autor:
Karen E. Morrison, Jeannine M. Heckmann, Nicholas Willcox, John Newsom-Davis, Barbara Emeryk-Szajewska, Strugalska H, JoAnn Bergoffen
Publikováno v:
Journal of autoimmunity. 9(2)
We have sought associations with the muscle acetylcholine receptor alpha-subunit gene (CHRNA1) in autoimmune myasthenia gravis (MG) patients from three ethnic groups; Caucasians and South Africans of Black and Mixed-Ancestry. We found a significant a
Autor:
Annette Chavez, Dan Li, Elizabeth Hoodfar, Regan Fulton, Minggui Pan, Laura Hofmeister, JoAnn Bergoffen
Publikováno v:
Journal of Clinical Oncology. 30:98-98
98 Background: Identifying patients with Lynch syndrome has profound impact on the clinical care of patients and their families. Previous guidelines based on family history alone have shown low sensitivity. In our medical center, the detection rate o
Publikováno v:
Neurology. 44(3 Pt 1)
We describe a family with parental consanguinity and five of 10 siblings affected by late-onset autoimmune myasthenia gravis. We propose a genetic mechanism as a predisposing factor in this family. Our analysis excludes the major histocompatibility c
Autor:
Ruth Kaminer, Joann Bergoffen
Publikováno v:
Pediatric Research. 21:179A-179A
Of nine developmentally delayed preschool children with macrccephaly identified at an inner city developmental evaluation clinic, eight were still macrccephalic on follow up. Evaluations consisted of parental and child interviews, assessment of acade