Genetic Techniques < Genetic Testing < Genetic Therapy

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 82.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
000282 (2000)	E H Aylward [États-Unis] ; A M Codori ; A. Rosenblatt ; M. Sherr ; J. Brandt ; O C Stine ; P E Barta ; G D Pearlson ; C A Ross	Rate of caudate atrophy in presymptomatic and symptomatic stages of Huntington's disease.
000733 (2002)	Dryden Watner [États-Unis] ; Eva C. Jurewicz ; Elan D. Louis	Survey of essential tremor patients on their knowledge about the genetics of the disease.
000850 (2002)	Marina A J. Tijssen [Pays-Bas] ; Monique N. Vergouwe ; J Gert Van Dijk ; Michelle Rees ; Rune R. Frants ; Peter Brown	Major and minor form of hereditary hyperekplexia.
000930 (2002)	David A. Grimes [Canada] ; J David Grimes ; Lem Racacho ; Kylie A. Scoggan ; Fabin Han ; Betty Anne Schwarz ; John Woulfe ; Dennise Bulman	Large French-Canadian family with Lewy body parkinsonism: exclusion of known loci.
000973 (2003)	Thomas Gasser [Allemagne] ; Susan Bressman ; Alexandra Dürr ; Joseph Higgins ; Thomas Klockgether ; Richard H. Myers	State of the art review: molecular diagnosis of inherited movement disorders. Movement Disorders Society task force on molecular diagnosis.
000A95 (2003)	Louis C. Tan [États-Unis] ; Caroline M. Tanner ; Rong Chen ; Piu Chan ; Matthew Farrer ; John Hardy ; J William Langston	Marked variation in clinical presentation and age of onset in a family with a heterozygous parkin mutation.
000C91 (2004)	Paola Costa-Mallen [États-Unis] ; Zahra Afsharinejad ; Samir N. Kelada ; Lucio G. Costa ; Gary M. Franklin ; Phillip D. Swanson ; W T Longstreth ; Hannah-Malia A. Viernes ; Federico M. Farin ; Terri Smith-Weller ; Harvey Checkoway	DNA sequence analysis of monoamine oxidase B gene coding and promoter regions in Parkinson's disease cases and unrelated controls.
000C99 (2004)	Jacob Appel ; Joseph H. Friedman	Genetic markers and the majority's right not to know.
000E98 (2004)	Dolores Garcia Arocena [États-Unis] ; Elan D. Louis ; Flora Tassone ; T Conrad Gilliam ; Ruth Ottman ; Sébastien Jacquemont ; Paul J. Hagerman	Screen for expanded FMR1 alleles in patients with essential tremor.
000F23 (2004)	Patricia De Carvalho Aguiar [États-Unis] ; Melissa Fazzari ; Joseph Jankovic [États-Unis] ; Laurie J. Ozelius	Examination of the SGCE gene in Tourette syndrome patients with obsessive-compulsive disorder.
000F51 (2004)	Din-E Shan [République populaire de Chine] ; Ren-Shyan Liu ; Chen-Ming Sun ; Shwn-Jen Lee ; Kwong-Kum Liao ; Bing-Wen Soong	Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: clinical implications.
001263 (2005)	Aideen Mcinerney-Leo	Genetic testing in Parkinson's disease.
001265 (2005)	Daniela Berg [Allemagne] ; Marc Niwar ; Sylvia Maass ; Alexander Zimprich ; J Carsten Möller ; Ullrich Wuellner ; Tanja Schmitz-Hübsch ; Christine Klein ; Eng-King Tan ; Ludger Schöls ; Laura Marsh ; Ted M. Dawson ; Bernd Janetzky ; Thomas Müller ; Dirk Woitalla ; Vladimir Kostic ; Peter P. Pramstaller ; Wolfgang H. Oertel ; Peter Bauer ; Rejko Krueger ; Thomas Gasser ; Olaf Riess	Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients.
001396 (2006)	Alberto L. Rosa [Argentine] ; Irma Molina ; Valeria Kowaljow ; Cecilia B. Conde	Brisk deep-tendon reflexes as a distinctive phenotype in an Argentinean spinocerebellar ataxia type 2 pedigree.
001524 (2006)	Michael J. Eblan ; Joann Nguyen ; Shira G. Ziegler ; Alicia Lwin ; Melissa Hanson ; Marisol Gallardo ; Roberto Weiser ; Marisel De Lucca ; Andrew Singleton ; Ellen Sidransky	Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela.
001631 (2006)	Masashiro Sugawara [Japon] ; Sumio Watanabe ; Itaru Toyoshima	Prevalence of dystonia in Akita Prefecture in Northern Japan.
001634 (2006)	E K Tan [Singapour] ; Lisa Skipper ; Eva Chua ; Meng-Cheong Wong ; Ratnagopal Pavanni ; Carine Bonnard ; Prasanna Kolatkar ; Jian-Jun Liu	Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late-onset Parkinson's disease.
001649 (2006)	Marcondes C. França [Brésil] ; Maria E. Calcagnotto ; Jaderson C. Da Costa ; Iscia Lopes-Cendes	Spinocerebellar ataxia types 2 and 3 segregating simultaneously in a single family.
001726 (2006)	Katja Hedrich [Allemagne] ; Susen Winkler ; Johann Hagenah ; Kemal Kabakci ; Meike Kasten ; Eberhard Schwinger ; Jens Volkmann ; Peter P. Pramstaller ; Vladimir Kostic ; Peter Vieregge ; Christine Klein	Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease.
001736 (2006)	Keiko Hiramoto [Japon] ; Hideshi Kawakami ; Kimiko Inoue ; Takahiro Seki ; Hirofumi Maruyama ; Hiroyuki Morino ; Masayasu Matsumoto ; Kaoru Kurisu ; Norio Sakai	Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.
001913 (2006)	Nathan Pankratz [États-Unis] ; Michael W. Pauciulo ; Veronika E. Elsaesser ; Diane K. Marek ; Cheryl A. Halter ; Alice Rudolph ; Clifford W. Shults ; Tatiana Foroud ; William C. Nichols	Mutations in LRRK2 other than G2019S are rare in a north American-based sample of familial Parkinson's disease.

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