Zobrazeno 1 - 10 of 75 pro vyhledávání: '"C, Lavedan"'
1
French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion
Autor: Chantal Duros, P Shelbourne, Catherine Bonaïti-Pellié, Catherine Boileau, I Dehaupas, C Lavedan, Jean-Pierre Rabès, Hélène Hofmann-Radvanyi, D Savoy, Luce S
Publikováno v: Journal of Medical Genetics. 31:33-36
The molecular basis of myotonic dystrophy (DM) has been characterised. All DM mutations characterised to date appear as an unstable elongation of a fragment containing a tandem repeat of a CTG motif, which can be visualised in both EcoRI and BamHI di
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90a24296f0ba1cc026337778edfeceb9
https://doi.org/10.1136/jmg.31.1.33
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2
Constitutional and somatic deletions of two different regions of maternal chromosome 11 in Wilms tumor
Autor: Christophe Béroud, C. Lavedan, Corinne Antignac, I. Henry, Bryan R.G. Williams, Grady F. Saunders, Cécile Jeanpierre, Claudine Junien, Thomas M Glaser
Publikováno v: Genomics. 7:434-438
Loss of heterozygosity for 11p markers and preferential loss of maternal alleles have been described in Wilms tumor. In this report we describe the molecular characterization of the constitutional and somatic 11p rearrangements in a del(11p13) WAGR p
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b11f11c7390baf08756edb0efbe0a3e2
https://doi.org/10.1016/0888-7543(90)90179-x
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3
Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers
Autor: Chantal Duros, D Savoy, Keith J. Johnson, H Hofmann, P Shelbourne, C. Lavedan, Claudine Junien
Publikováno v: Journal of Medical Genetics. 28:89-91
We report on two cases of prenatal diagnosis of myotonic dystrophy (DM), using flanking markers APOC2 or CKMM on the proximal side and D19S51 on the distal side. By double digestion (TaqI and NcoI) of PCR amplified CKMM, the informativeness was incre
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7c4b6c62ee2ad2302481c412689a8f0
https://doi.org/10.1136/jmg.28.2.89
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5
Tasimelteon treatment entrains the circadian clock and demonstrates significant benefit on sleep and wake parameters in totally blind individuals with non-24 hour circadian rhythms
Autor: M. Dressman, M. Polymeropoulos, C. Lavedan, Steven W. Lockley, L. Licamele, R. Torres
Publikováno v: Sleep Medicine. 14:e178
Introduction The majority of totally blind individuals exhibit non-24-h circadian rhythms due to light signals not reaching the suprachiasmatic nucleus, resulting in Non-24-h Sleep–Wake Disorder (Non-24), a serious circadian rhythm disorder with no
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2925cf13d82ec4e6a2aabdcd2e029b9a
https://doi.org/10.1016/j.sleep.2013.11.417
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6
Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease
Autor: J. J. Higgins, Susan E. Ide, O. Vasconcelos, Mihael H. Polymeropoulos, L. G. Goldfarb, C. Lavedan, L. E. Nee
Publikováno v: Neurology. 46(1)
Article abstract-We identified an expansion of the CAG trinucleotide repeat in the coding region of the Machado-Joseph disease gene in 7 of 24 American families diagnosed with autosomal dominant ataxia. All affected individuals were heterozygous for
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b15add03bf1a62ce8eda82aaf357f808
https://pubmed.ncbi.nlm.nih.gov/9109924
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