Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Susan E. Ide"'
Autor:
Hélio A.G. Teive, Salmo Raskin, Fábio M. Iwamoto, Francisco M.B. Germiniani, Maria H.H. Baran, Lineu C. Werneck, Nasser Allan, Elizabeth Quagliato, Elisabeth Leroy, Susan E. Ide, Mihael H. Polymeropoulos
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 59, Iss 3B, Pp 722-724 (2001)
A missense G209A mutation of the alpha-synuclein gene was recently described in a large Contursi kindred with Parkinson's disease (PD). The objective of this study is to determine if the mutation G209A of the alpha-synuclein gene was present in 10 Br
Externí odkaz:
https://doaj.org/article/2d24e0998cd5472aa676ff9373cc5c8e
Autor:
Amer M. Zeidan, Amy E. DeZern, Uma Borate, Krissy Kobata, Susan E. Ide, John Sabo, Pedro Marques Ramos, Haiying Sun, Roger M. Lyons, Guillermo Garcia-Manero
Publikováno v:
Blood. 140:4069-4070
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2a708d7023fb0294bf379c78a4915014
https://doi.org/10.1182/blood-2022-167259
https://doi.org/10.1182/blood-2022-167259
Publikováno v:
Movement Disorders. 12:412-417
The autosomal dominant ataxias (ADA) are a diverse group of multisystem, neurodegenerative disorders characterized by mutations at several chromosomal loci (SCA types 1–5, SCA type 7, DRPLA). We excluded all the known SCA loci by mutational and lin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f065d7d9ffd7412676c6d40661a8441
https://doi.org/10.1002/mds.870120322
https://doi.org/10.1002/mds.870120322
Publikováno v:
Cancer Genetics and Cytogenetics. 92:46-49
A trinucleotide (CAG)n repeat containing cDNA was isolated from a human cDNA library and sequenced. The locus was mapped by linkage analysis in the CEPH families and by cytogenetic analysis to 3p24.2-p22. We have additionally excluded this gene as a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2949334628929d5053c50dd6451e4f9
https://doi.org/10.1016/s0165-4608(96)00148-3
https://doi.org/10.1016/s0165-4608(96)00148-3
Autor:
Christopher Mader, B. B. Birren, Jean Morissette, C. Sanders, K. Swanson, Xiao-Yu Wu, Thomas J. Hudson, Mark S. Boguski, A. Maratukulam, Midori A. Harris, L. Green, S. Hussain, C. East, Robert E. White, Andrew A. Hicks, K. R. Iorio, Andrew B. Castle, W.-L. Sun, Paul Harrison, Simone Duprat, Kate Rice, Eric S. Lander, X. She, Shanti M. Perkins, Ammon B. Peck, Mina Sandusky, John Quackenbush, L. Hui, David Bentley, K. B. McKusick, Anindya Dehejia, Gregory D. Schuler, Gabor Gyapay, T. Dibling, C M Clee, Amita Aggarwal, James R. Hudson, R. Torres, Eva Bajorek, Peter N. Goodfellow, Mark Piercy, Mark Raymond Adams, Jun Fan, Cheryl Phillips, Elizabeth A. Stewart, Nicole Y. Fang, N. Drouot, Ian Dunham, Donna K. Slonim, Mihael H. Polymeropoulos, N. Nomura, Andrew J. Mungall, K. Ishikawa, E. Holloway, J. Ma, P. J. R. Day, N. Seki, S. Bentolila, Jean Weissenbach, P. Rodriguez-Tomé, Adam Butler, Sid Cowles, Angela M. Chu, Karin Schmitt, R. Houlgatte, Panos Deloukas, Tim Reif, Michael R. James, C. Louis-Dit-Sully, S. Voyticky, P. Tabar, David R. Cox, A. MacGilvery, David C. Page, Carol Soderlund, C A Edwards, S A Ranby, Nicole A.R. Walter, Douglas Vollrath, T. E. Wilmer, Lincoln Stein, H. C. Nusbaum, Takahiro Nagase, Tara C. Matise, T. Thangarajah, Susan E. Ide, Fawn Qin, Richard M. Myers, Steve Rozen, Jacques S. Beckmann, Richard Berry, James M. Sikela, Charles Auffray, Shannon T. Brady, Cécile Fizames, Christine Garrett, David Hadley, Delphine Muselet, Nathalie Vega-Czarny, Rhonda Brandon, Wha‐Young Lee, N. Chiannilkulchai, J. C. Venter, James Silva
Publikováno v:
Science. 274:540-546
The human genome is thought to harbor 50,000 to 100,000 genes, of which about half have been sampled to date in the form of expressed sequence tags. An international consortium was organized to develop and map gene-based sequence tagged site markers
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::87abe38bd8f96de2a0d10feb38533d10
https://doi.org/10.1126/science.274.5287.540
https://doi.org/10.1126/science.274.5287.540
Autor:
Susan E. Ide, Elias O. Da Silva, Reed E. Pyeritz, Mihael H. Polymeropoulos, Michael Wright, Jean Weissenbach, Judith A. Goodship, Rosa Isela Ortiz De Luna, Clair A. Francomano
Publikováno v:
Genomics. 35:1-5
Ellis-van Creveld syndrome (EVC) is an autosomal recessive disorder characterized by disproportionate dwarfism, polydactyly, and congenital heart disease. This rare disorder is found with increased frequency among the Old Order Amish community in Lan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08ce6991fa0799f2e2feaed6658c033c
https://doi.org/10.1006/geno.1996.0315
https://doi.org/10.1006/geno.1996.0315
Autor:
Anindya Dehejia, William G. Johnson, Elisabeth Leroy, Amalia Dutra, Giuseppe Di Iorio, Theodore Papapetropoulos, Christian Lavedan, Lawrence I. Golbe, Mihael H. Polymeropoulos, Robert L. Nussbaum, Brian L. Pike, Roger C. Duvoisin, Susan E. Ide, Rebecca Boyer, Jeffrey Rubenstein, Edward S. Stenroos, Aglaia Athanassiadou, Holly Root, Settara C. Chandrasekharappa, Alice Lazzarini
Publikováno v:
Science. 276:2045-2047
Parkinson's disease (PD) is a common neurodegenerative disorder with a lifetime incidence of approximately 2 percent. A pattern of familial aggregation has been documented for the disorder, and it was recently reported that a PD susceptibility gene i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c39f74bcbcbc2906e1a157372caa3527
https://doi.org/10.1126/science.276.5321.2045
https://doi.org/10.1126/science.276.5321.2045
Autor:
G. Sanges, Roger C. Duvoisin, Lana T. Pho, Alejandro A. Schäffer, Giuseppe Di Iorio, Lawrence I. Golbe, William G. Johnson, Edward S. Stenroos, Robert L. Nussbaum, Alice M. Lazzarini, J. J. Higgins, Susan E. Ide, Mihael H. Polymeropoulos
Publikováno v:
Science. 274:1197-1199
Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease, affecting approximately 1 percent of the population over age 50. Recent studies have confirmed significant familial aggregation of PD and a large
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa877c4baf53bfa51ddb3c364be45b01
https://doi.org/10.1126/science.274.5290.1197
https://doi.org/10.1126/science.274.5290.1197
Publikováno v:
Genomics. 29:273-275
In the course of isolation and sequence analysis of microsatellite repeat containing human cDNAs, we have isolated the human homologue of the rat visinin-like peptide gene. The human gene shows a high degree of conservation at both the amino acid and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73213edbc09b2215d79887cc28fb90f7
https://doi.org/10.1006/geno.1995.1244
https://doi.org/10.1006/geno.1995.1244
Autor:
Francisco M.B. Germiniani, Mihael H. Polymeropoulos, Maria Helena Herdoíza Baran, Salmo Raskin, Nasser Allan, Susan E. Ide, Fabio Massaiti Iwamoto, Elizabeth Maria Aparecida Barasnevicius Quagliato, Lineu Cesar Werneck, Elisabeth Leroy, Hélio A.G. Teive
Publikováno v:
Arquivos de Neuro-Psiquiatria, Volume: 59, Issue: 3B, Pages: 722-724, Published: SEP 2001
Arquivos de Neuro-Psiquiatria v.59 n.3B 2001
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO
Arquivos de Neuro-Psiquiatria v.59 n.3B 2001
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO
A missense G209A mutation of the alpha-synuclein gene was recently described in a large Contursi kindred with Parkinson's disease (PD). The objective of this study is to determine if the mutation G209A of the alpha-synuclein gene was present in 10 Br
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e884302f7f63670252cdf0fe00658df4
https://pubmed.ncbi.nlm.nih.gov/11593272
https://pubmed.ncbi.nlm.nih.gov/11593272