Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Anne M, Summers"'
Publikováno v:
Clinical Genetics. 76:121-122
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7d2dc6595499f6d284ec794a6f77b1f8
https://doi.org/10.1111/j.1399-0004.2009.01268.x
https://doi.org/10.1111/j.1399-0004.2009.01268.x
Akademický článek
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Autor:
Adrian Danek, François Dubeau, Antonio Velayos-Baeza, Anthony P. Monaco, Eva Andermann, Anne M. Summers, Anthony E. Lang, Sylvain Chouinard, Frederick Andermann, Francine Robert, An C. Jansen, Carol Dobson-Stone
Mutations in VPS13A cause chorea-acanthocytosis (ChAc), an autosomal recessive neurodegenerative disorder. VPS13A is located in a tail-to-tail arrangement with GNA14 on chromosome 9q21. ChAc shows substantial allelic heterogeneity, with no single VPS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f303320003b04fe75c9fa75df77bd7b1
https://ora.ox.ac.uk/objects/uuid:0cf09780-704b-48dc-ba74-3c0f1a3f2194
https://ora.ox.ac.uk/objects/uuid:0cf09780-704b-48dc-ba74-3c0f1a3f2194
Autor:
Anne M. Summers, Sylvie Langlois, Phil Wyatt, R. Douglas Wilson, Victoria Allen, Claire Blight, Valérie Désilets, Alain Gagnon, Jo-Ann Johnson, David Chitayat, Albert E. Chudley, Sandra A. Farrell, Michael T. Geraghty, Chumei Li, Sarah M. Nikkel, Andrea Shugar, Anne Summers, Frédérique Tihy, Lucie Morin, Michael Van den Hof, Stephen Bly, Robert Gagnon, Barbara Lewthwaite, Yvonne M. Cargill, Kenneth Ian Lim, Annie Ouellet
Publikováno v:
Journal of Obstetrics and Gynaecology Canada. 29:162-179
Resume Objectif Elaborer un document de consensus canadien enoncant des recommandations sur le depistage maternel de l'aneuploidie foetale (p. ex. syndrome de Down et trisomie 18) pendant la grossesse. Options Le depistage de l'aneuploidie foetale pe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::45c7453aa17c6521bb22c40340f6ffad
https://doi.org/10.1016/s1701-2163(16)32380-5
https://doi.org/10.1016/s1701-2163(16)32380-5
Autor:
Anne M. Summers, Sylvie Langlois, Phil Wyatt, R. Douglas Wilson, Victoria Allen, Claire Blight, Valerie Desilets, Alain Gagnon, Jo-Ann Johnson, David Chitayat, Albert E. Chudley, Sandra A. Farrell, Michael T. Geraghty, Chumei Li, Sarah M. Nikkel, Andrea Shugar, Anne Summers, Frederique Tihy, Lucie Morin, Michael Van den Hof, Stephen Bly, Robert Gagnon, Barbara Lewthwaite, Yvonne M. Cargill, Kenneth Ian Lim, Annie Ouellet
Publikováno v:
Journal of Obstetrics and Gynaecology Canada. 29:146-161
Objective: To develop a Canadian consensus document with recommendations on maternal screening for fetal aneuploidy (e.g., Down syndrome and trisomy 18) in pregnancy. Options: Pregnancy screening for fetal aneuploidy started in the mid 1960s, using m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96a2747fcf993ca46493ae81c7032fff
https://doi.org/10.1016/s1701-2163(16)32379-9
https://doi.org/10.1016/s1701-2163(16)32379-9
Autor:
Nanette Okun, Anthony Staines, Jo-Ann Johnson, Barry Hoffman, Anne M. Summers, Elizabeth J.T. Winsor, Tianhua Huang, David Chitayat
Publikováno v:
Prenatal diagnosis. 28(11)
Objectives To evaluate the performance of integrated prenatal screening (IPS) and first trimester combined screening (FTS) for trisomy 21 in a large Canadian urban center. Method Prospective data collection on women having FTS at one center from 1 No
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27327c8073fa206392e5820a87b5ec45
https://pubmed.ncbi.nlm.nih.gov/18925623
https://pubmed.ncbi.nlm.nih.gov/18925623
Publikováno v:
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC. 27(11)
OBJECTIVE To provide a Committee opinion on the present status and role of stem cells in fetal genetic therapy. OPTIONS Limited to discussion of new genetic information and technology related to stem cell therapy. EVIDENCE MEDLINE search to identify
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c10bc14067baea3507baff05ce96023
https://pubmed.ncbi.nlm.nih.gov/16529672
https://pubmed.ncbi.nlm.nih.gov/16529672
Autor:
Joan M.G. Crane, Line Leduc, de la Ronde S, Greg Davies, R. D. Wilson, John Van Aerde, Dan Farine, Fung Kee Fung K, Philip Wyatt, Lisa Keenan-Lindsay, Anthony Armson, Valerie A. Désilets, Gregory J. Reid, Anne M. Summers, Eason E, David C. Young
Publikováno v:
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC. 25(9)
OBJECTIVE To provide guidelines on use of anti-D prophylaxis to optimize prevention of rhesus (Rh) alloimmunization in Canadian women. OUTCOMES Decreased incidence of Rh alloimmunization and minimized practice variation with regards to immunoprophyla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::774fbcada4be4edd70b626d6cbe75c8c
https://pubmed.ncbi.nlm.nih.gov/12970804
https://pubmed.ncbi.nlm.nih.gov/12970804
Publikováno v:
Prenatal diagnosis. 23(2)
The study evaluates the differences between Aboriginal and Caucasian women in the levels of maternal serum markers used in second-trimester Down syndrome screening (alpha-fetoprotein, unconjugated estriol, and total human chorionic gonadotrophin).A c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6250ae8ffb65971f42848b12f65343d0
https://pubmed.ncbi.nlm.nih.gov/12575012
https://pubmed.ncbi.nlm.nih.gov/12575012
Autor:
Jennifer Skaug, Karen W. Gripp, Luis Armengol, Sanaa Choufani, Lisa G. Shaffer, Ikuko Teshima, Dorota Kwasnicka, Elena Belloni, Peter M. Kroisel, Qing Zhang, Miguel Angel Pujana, David Chitayat, Hartmut Döhner, Sarah J. Mould, David G. Oscier, Andrew P. Boright, Steven R. Herrick, Peter Szatmari, Simone Gentles, May Haddad, Lucy R. Osborne, Azra H. Ligon, J. Craig Venter, Karl Heinz Grzeschik, James F. Gusella, Emiko Kanematsu, Junjun Zhang, Jeffrey R. MacDonald, Eitan Zlotorynski, Zhongwu Lai, Anne W. Higgins, Zhiping Gu, Theresa A. Grebe, Johanna M. Rommens, Barbara R. Pober, Stephen W. Scherer, Constantine C. Christopoulos, Pier Giuseppe Pelicci, Cynthia C. Morton, Anne M. Summers, Razi Khaja, Michael D. Wilson, Berge A. Minassian, Chantal Farra, Hyung Goo Kim, Ahmed Teebi, Elizabeth J.T. Winsor, Gudrun E. Moore, Nazneen Rahman, Heather L. Ferguson, John B. Vincent, Kazuhiko Nakabayashi, Henry H.Q. Heng, Batsheva Kerem, Wendy Roberts, Xiangqun H. Zheng, Jan M. Friedman, Martin Li, Francesco Lo-Coco, Susan Zeesman, Juha Kere, Richard J. Mural, Małgorzata J.M. Nowaczyk, Ben F. Koop, Jo Anne Herbrick, Bradley J. Quade, Alexander K. Hudek, Bridget A. Fernandez, Lap-Chee Tsui, Fu Lu, Peter W. Li, Gavin E. Duggan, Joseph Y. Cheung, Gail A. P. Bruns, Susan J. Kirkpatrick, Konstanze Döhner, Bruce R. Korf, Elaine H. Zackai, Xavier Estivill, Silvano Tosi, Rosanna Weksberg, Erwin Petek, Natalia T. Leach, Deborah R. Nusskern, Sarah R. Cox, Emmanuelle Lemyre, Andrew R. Carson, Cheryl Shuman, Mark Raymond Adams, Layla Parker-Katiraee
DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description, additional structural features such as imprinted genes,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f1d5e41971c0fe03c12ca6bc3377b9c
http://hdl.handle.net/2108/162063
http://hdl.handle.net/2108/162063