DNA Mutational Analysis < DNA Primers < DNA Probes

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 24.
[0-20] [0 - 20][0 - 24][20-23][20-40]

Ident.	Authors (with country if any)	Title
001A03 (2010)	Xin Liu ; Shu-Shan Zhang ; Deng-Fu Fang ; Ming-Yi Ma ; Xiao-Yan Guo ; Yuan Yang ; Hui-Fang Shang	GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia.
001F29 (2009)	Donald L. Gilbert ; Elizabeth J. Leslie ; Mehdi Keddache ; Nancy D. Leslie	A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31.
002354 (2008)	Hoon-Chul Kang ; Su Jeong You ; Myung Jae Chey ; Jong Sam Baik ; Jong-Won Kim ; Chang-Seok Ki	Identification of a de novo Lys304Gln mutation in the glycine receptor alpha-1 subunit gene in a Korean infant with hyperekplexia.
002525 (2008)	Nardo Nardocci ; Giovanna Zorzi ; Chiara Barzaghi ; Federica Zibordi ; Claudia Ciano ; Daniele Ghezzi ; Barbara Garavaglia	Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families.
002972 (2007)	Jordi Clarimon ; Francesco Brancati ; Elizabeth Peckham ; Enza Maria Valente ; Bruno Dallapiccola ; Giovanni Abruzzese ; Paolo Girlanda ; Giovanni Defazio ; Alfredo Berardelli ; Mark Hallett ; Andrew B. Singleton	Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.
002D55 (2006)	Eng-King Tan ; Kenneth Yew ; Eva Chua ; K. Puvan ; Hui Shen ; Esther Lee ; Kim-Yoong Puong ; Yi Zhao ; Ratnagopal Pavanni ; Meng-Cheong Wong ; Dominic Jamora ; Deidre De Silva ; Kyaw-Thu Moe ; Fung-Peng Woon ; Yih Yuen ; Louis Tan	PINK1 mutations in sporadic early-onset Parkinson's disease.
002E42 (2006)	Joseph J. Higgins ; Roni Q. Lombardi ; Joanna Pucilowska ; Joseph Jankovic ; Lawrence I. Golbe ; Leo Verhagen	HS1-BP3 gene variant is common in familial essential tremor.
003004 (2005)	Jason D. Dapper ; Monica J. Justice	Defining the breakpoints of the quaking(viable) mouse mutation reveals a duplication from a Parkin intron.
003032 (2005)	Elan D. Louis ; Lakeisha Applegate ; Joseph H. Graziano ; Michael Parides ; Vesna Slavkovich ; Hari K. Bhat	Interaction between blood lead concentration and delta-amino-levulinic acid dehydratase gene polymorphisms increases the odds of essential tremor.
003047 (2005)	Daniela Berg ; 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.
003146 (2005)	Eng-King Tan ; Van R. Chandran ; Stephanie Fook-Chong ; Hui Shen ; Kenneth Yew ; Mei-Lin Teoh ; Yih Yuen ; Yi Zhao	Alpha-synuclein mRNA expression in sporadic Parkinson's disease.
003161 (2005)	Anna H Kansson ; Lars Westberg ; Staffan Nilsson ; Silvia Buervenich ; Andrea Carmine ; Björn Holmberg ; Olof Sydow ; Lars Olson ; Bo Johnels ; Elias Eriksson ; Hans Nissbrandt	Investigation of genes coding for inflammatory components in Parkinson's disease.
003207 (2005)	Christine Sato ; Angharad Morgan ; Anthony E. Lang ; Shabnam Salehi-Rad ; Toshitaka Kawarai ; Yan Meng ; Peter N. Ray ; Lindsay A. Farrer ; Peter St George-Hyslop ; Ekaterina Rogaeva	Analysis of the glucocerebrosidase gene in Parkinson's disease.
003254 (2004)	Eng-King Tan ; Henry Chung ; Vandana R. Chandran ; Chris Tan ; Hui Shen ; Kenneth Yew ; Ratnagopal Pavanni ; Kathi-Avelu Puvan ; Meng-Cheong Wong ; Mei-Lin Teoh ; Yuan Yih ; Yi Zhao	Nurr1 mutational screen in Parkinson's disease.
003261 (2004)	Ali Sazci ; Emel Ergul ; Kemal Bayulkem	Association of the C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene in patients with essential tremor in Turkey.
003401 (2004)	Christoph Kamm ; Joanne Leung ; Soni Joseph ; William B. Dobyns ; Alison Brashear ; Xandra O. Breakefield ; Laurie J. Ozelius	Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
003412 (2004)	Okan Dogu ; Janel Johnson ; Dena Hernandez ; Melissa Hanson ; John Hardy ; Hulya Apaydin ; Sibel Ozekmekçi ; Serhan Sevim ; Katrina Gwinn-Hardy ; Andrew Singleton	A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion.
003415 (2004)	Lorraine N. Clark ; Shehla Afridi ; Helen Mejia-Santana ; Juliette Harris ; Elan D. Louis ; Lucien J. Cote ; Howard Andrews ; Andrew Singleton ; Fabienne Wavrant De-Vrieze ; John Hardy ; Richard Mayeux ; Stanley Fahn ; Cheryl Waters ; Blair Ford ; Steven Frucht ; Ruth Ottman ; Karen Marder	Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations.
003427 (2004)	Laura Cif ; Enza Maria Valente ; Simone Hemm ; Christine Coubes ; Nathalie Vayssiere ; Stéphanie Serrat ; Annalisa Di Giorgio ; Philippe Coubes	Deep brain stimulation in myoclonus-dystonia syndrome.
003784 (2003)	Eng-King Tan ; Yanni Tan ; Anthea Chai ; Christopher Tan ; Hui Shen ; Sau-Ying Lum ; Stephanie M C. Fook-Cheong ; Mei-Ling Teoh ; Yuan Yih ; Meng-Cheong Wong ; Yi Zhao	Dopamine D2 receptor TaqIA and TaqIB polymorphisms in Parkinson's disease.
003847 (2003)	Giovanni Defazio ; Francesco Brancati ; Enza Maria Valente ; Viviana Caputo ; Antonio Pizzuti ; Davide Martino ; Giovanni Abbruzzese ; Paolo Livrea ; Alfredo Berardelli ; Bruno Dallapiccola	Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene.

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