'Tell Them It's Not so Bad': Prenatal Screening for Down Syndrome and the Bias Toward Abortion.

Autor: Bauer PE

Publikováno v: Intellectual & Developmental Disabilities; Jun2008, Vol. 46 Issue 3, p247-251, 5p

ROCK-phosphorylated vimentin modifies mutant huntingtin aggregation via sequestration of IRBIT

Autor: Bauer Peter O, Hudec Roman, Goswami Anand, Kurosawa Masaru, Matsumoto Gen, Mikoshiba Katsuhiko, Nukina Nobuyuki

Publikováno v: Molecular Neurodegeneration, Vol 7, Iss 1, p 43 (2012)

Abstract Background Huntington's Disease (HD) is a fatal hereditary neurodegenerative disease caused by the accumulation of mutant huntingtin protein (Htt) containing an expanded polyglutamine (polyQ) tract. Activation of the channel responsible for

Externí odkaz: https://doaj.org/article/d25cd6e90a9340278ad761e180a00437

TILLING in the two-rowed barley cultivar 'Barke' reveals preferred sites of functional diversity in the gene HvHox1

Autor: Komatsuda Takao, Bauer Petra, Gottwald Sven, Lundqvist Udda, Stein Nils

Publikováno v: BMC Research Notes, Vol 2, Iss 1, p 258 (2009)

Abstract Background The economic importance of cereals such as barley, and the demand for improved yield and quality require a better understanding of the genetic components that modulate biologically and commercially relevant traits. While Arabidops

Externí odkaz: https://doaj.org/article/0a853d3280f54053b6d75dde2e8bd503

Correction: A randomized controlled trial of an online health tool about Down syndrome.

Autor: Chung J; Laboratory of Computer Science, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA., Donelan K; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Health Policy Research Center, Mongan Institute, Massachusetts General Hospital, Boston, MA, USA., Macklin EA; Biostatistics Center, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Schwartz A; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Elsharkawi I; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA., Torres A; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA., Hsieh YG; Laboratory of Computer Science, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA., Parker H; Laboratory of Computer Science, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Lorenz S; Laboratory of Computer Science, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Patsiogiannis V; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA., Santoro SL; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Wylie M; Laboratory of Computer Science, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Clarke L; Laboratory of Computer Science, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Estey G; Laboratory of Computer Science, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Baker S; Down Syndrome Association of Los Angeles, Los Angeles, CA, USA., Bauer PE; Trustee, The Riverview School, East Sandwich, MA, USA., Bull M; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA., Chicoine B; Advocate Medical Group Adult Down Syndrome Center, Park Ridge, IL, USA., Cullen S; Massachusetts Down Syndrome Congress, Boston, MA, USA., Frey-Vogel A; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Gallagher M; Massachusetts Down Syndrome Congress, Boston, MA, USA., Hasan R; Department of Internal Medicine and Pediatrics, Oregon Health & Science University, Portland, OR, USA., Lamb A; Health and Wellness, University of New Hampshire, Durham, NH, USA., Majewski L, Mast J, Riddell T; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA., Sepucha K; Health Decision Sciences Center, Massachusetts General Hospital, Boston, MA, USA., Skavlem M, Skotko BG; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA. bskotko@mgh.harvard.edu.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. bskotko@mgh.harvard.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jan; Vol. 23 (1), pp. 236.

Reaching across the disability divide: the case for collaboration with the disability community to construct a robust informed consent process around prenatal screening and diagnosis.

Autor: Bauer PE

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2011 Aug; Vol. 155A (8), pp. 1788-90. Date of Electronic Publication: 2011 Jun 29.