Search Results - "Angrist, M"

Living laboratory: whole-genome sequencing as a learning healthcare enterprise by Angrist, M., Jamal, L.

“…With the proliferation of affordable large‐scale human genomic data come profound and vexing questions about management of such data and their clinical…”
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Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT by Davis, E.E., Savage, J.H., Willer, J.R., Jiang, Y.-H., Angrist, M., Androutsopoulos, A., Katsanis, N.

“…Skeletal dysplasias are challenging to diagnose because of their phenotypic variability, genetic heterogeneity, and diverse inheritance patterns. We conducted…”
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Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease by Angrist, M, Bolk, S, Thiel, B, Puffenberger, E G, Hofstra, R M, Buys, C H, Cass, D T, Chakravarti, A

“…Hirschsprung disease (HSCR), or congenital aganglionic megacolon, is the most common cause of congenital bowel obstruction with an incidence of 1 in 5000 live…”
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Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome by Bolk, Stacey, Angrist, Misha, Xie, Jian, Yanagisawa, Masashi, Silvestri, Jean M, Weese-Mayer, Debra E, Chakravarti, Aravinda

“…Idiopathic congenital central hypoventilation syndrome (CCHS, or "ondine's Curse") is a rare disorder characterized by abnormal control of respiration in the…”
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A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10 by Shaw Washington, Sarah, Angrist, Misha, Kauffman, Erick, Slaugenhaupt, Susan A, Lipson, Anthony, Puffenberger, Erik G, Cass, Daniel T, Cox Matise, Tara, Chakravarti, Aravinda, Sieber, William, Weeks, Daniel E, Reyna, Troy

“…Hirschsprung disease (HSCR) is characterized by a congenital absence of enteric ganglia along a variable length of the intestine. Although long considered to…”
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Personalized medicine and human genetic diversity by Lu, Yi-Fan, Goldstein, David B, Angrist, Misha, Cavalleri, Gianpiero

“…Human genetic diversity has long been studied both to understand how genetic variation influences risk of disease and infer aspects of human evolutionary…”
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Does phaster mean better? by Angrist, M

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Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers by Hentati, A, Pericak-Vance, M A, Lennon, F, Wasserman, B, Hentati, F, Juneja, T, Angrist, M H, Hung, W Y, Boustany, R M, Bohlega, S

“…'Pure' autosomal dominant familial spastic paraplegia (SPG) is a neurodegenerative disease which clinically manifests as spasticity of the lower limbs…”
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Parties, parliament and political dissent in Tunisia by Angrist, Michele Penner

“…The Ben Ali regime (1987-present) has disappointed the many who believed that the post-Bourguiba era would bring substantial political pluralisation to…”
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Paroxetine and akathisia by Adler, Lenard A., Angrist, Burton M.

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The Expression of Political Dissent in the Middle East: Turkish Democratization and Authoritarian Continuity in Tunisia by Penner Angrist, Michele

“…Beginning in the early 1970s, a large number of countries initiated transitions from forms of authoritarian rule to democracy.The research for this essay was…”
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Chromosomal localization of the mouse Src-like adapter protein (Slap) gene and its putative human homolog SLA by ANGRIST, M, WELLS, D. E, ARAVINDA CHAKRAVARTI, AKHILESH PANDEY

“…Molecules containing Src-homology 2 (SH2) and Src-homology 3 (SH3) domains are critical components of signal transduction pathways that serve to relay signals…”
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Breast cancer: integrating the patient with her genome by Angrist, Misha

“…Increasingly, gene expression data are becoming the currency of the realm in assessing disease prognosis. This has been especially evident in cancer,…”
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Segregation at three loci explains familial and population risk in Hirschsprung disease by Angrist, Misha, Buys, Charles, Fornage, Myriam, Gabriel, Stacey Bolk, Attié-Bitach, Tania, Pelet, Anna, Hofstra, Robert, Olson, Jane M, Lyonnet, Stanislas, Munnich, Arnold, Chakravarti, Aravinda, Steffann, Julie, Salomon, Rémi, Amiel, Jeanne

“…Hirschsprung disease (HSCR), the most common hereditary cause of intestinal obstruction, shows considerable variation and complex inheritance. Coding sequence…”
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Genomic medicine: genetic variation and its impact on the future of health care by Willard, Huntington F, Angrist, Misha, Ginsburg, Geoffrey S

“…Advances in genome technology and other fruits of the Human Genome Project are playing a growing role in the delivery of health care. With the development of…”
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A Human Model for Multigenic Inheritance: Phenotypic Expression in Hirschsprung Disease Requires Both the RET Gene and a New 9q31 Locus by Bolk, Stacey, Pelet, Anna, Robert M. W. Hofstra, Angrist, Misha, Salomon, Remi, Croaker, David, Charles H. C. M. Buys, Lyonnet, Stanislas, Chakravarti, Aravinda

“…Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers. Hirschsprung disease (HSCR)…”
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Germline mutations in glial cell line-derived neurotrophic factor ( GDNF ) and RET in a Hirschsprung disease patient by Lapchak, Paul A, Chakravarti, Aravinda, Halushka, Marc, Angrist, Misha, Bolk, Stacey

“…Hirschsprung disease (HSCR), or congenital aganglionic megacolon, is the most common cause of congenital bowel obstruction with an incidence of 1 in 5000 live…”
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Comparative Psychotomimetic Effects of Stereoisomers of Amphetamine by ANGRIST, B. M, SHOPSIN, B, GERSHON, S

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The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome by Southard-Smith, E M, Angrist, M, Ellison, J S, Agarwala, R, Baxevanis, A D, Chakravarti, A, Pavan, W J

“…Hirschsprung disease (HSCR) is a multigenic neurocristopathy clinically recognized by aganglionosis of the distal gastrointestinal tract. Patients presenting…”
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Less is more: compact genomes pay dividends by Angrist, M

“…In 1993, Sydney Brenner, like many others, recognized that vertebrates are distinct in their morphology and development and that access to the complete…”
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