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D Le Paslier

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Articles 75
Citations 1452
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Recent Articles
1.
Jetten M, Sliekers O, Kuypers M, Dalsgaard T, van Niftrik L, Cirpus I, et al.
Appl Microbiol Biotechnol . 2003 Sep; 63(2):107-14. PMID: 12955353
Recently, two fresh water species, " Candidatus Brocadia anammoxidans" and " Candidatus Kuenenia stuttgartiensis", and one marine species, " Candidatus Scalindua sorokinii", of planctomycete anammox bacteria have been identified. "...
2.
Le Paslier M, Pierce R, Merlin F, Hirai H, Wu W, Williams D, et al.
Genomics . 2000 Apr; 65(2):87-94. PMID: 10783255
A bacterial artificial chromosome (BAC) library has been established from genomic DNA isolated from the trematode parasite of human, Schistosoma mansoni. This library consists of more than 21,000 recombinant clones...
3.
Bejaoui K, Liu J, McKenna-Yasek D, Le Paslier D, Bossie K, Gilligan D, et al.
Neurogenetics . 2000 Mar; 1(3):189-96. PMID: 10737122
Miyoshi myopathy (MM) is an early adult-onset, autosomal recessive disorder characterized by weakness and muscular atrophy starting in the distal muscles. The disease locus has been previously mapped by linkage...
4.
Tunnacliffe A, Jones C, Le Paslier D, Todd R, Cherif D, Birdsall M, et al.
Genome Res . 1999 Feb; 9(1):44-52. PMID: 9927483
Jacobsen syndrome is a haploinsufficiency disorder caused, most frequently by terminal deletion of part of the long arm of chromosome 11, with breakpoints in 11q23.3-11q24.2. Inheritance of an expanded p(CCG)n...
5.
Debrus S, Tuffery S, Matsuoka R, Galal O, Sarda P, Sauer U, et al.
J Mol Cell Cardiol . 1997 May; 29(5):1423-31. PMID: 9201627
Heterotaxy is the failure of the developing embryo to establish normal left-right asymmetry, which is often associated with multiple malformations. Previous studies have identified different mutations in the cytoplasmic tail...
6.
Munier F, Korvatska E, Djemai A, Le Paslier D, Zografos L, Pescia G, et al.
Nat Genet . 1997 Mar; 15(3):247-51. PMID: 9054935
Granular dystrophy Groenouw type I (CDGG1), Reis-Bücklers (CDRB), lattice type I (CDL1) and Avellino (ACD) are four 5q31-linked human autosomal dominant corneal dystrophies. Clinically, they show progressive opacification of the...
7.
Yu S, Mangelsdorf M, Hewett D, Hobson L, Baker E, Eyre H, et al.
Cell . 1997 Feb; 88(3):367-74. PMID: 9039263
Fragile sites are nonstaining gaps in chromosomes induced by specific tissue culture conditions. They vary both in population frequency and in the culture conditions required for induction. Folate-sensitive fragile sites...
8.
Merscher S, Bekri S, de Leeuw B, Pedeutour F, Grosgeorge J, Shows T, et al.
Genomics . 1997 Feb; 39(3):340-7. PMID: 9119371
The distal part of 11q13, which contains several genes relevant to human diseases, has been poorly mapped as part of genome-wide mapping efforts. In the prospect of drawing a fine-scale...
9.
Schnittger S, de Sauvage F, Le Paslier D, Fonatsch C
Leukemia . 1996 Dec; 10(12):1891-6. PMID: 8946927
Thrombocytosis is a characteristic clinical feature in patients with myelocytic malignancies and chromosomal rearrangements of 3q21 and 3q26, sometimes called the '3q21q26 syndrome'. The function of thrombopoietin (TPO) in megakaryocytopoiesis...
10.
Perrault I, Rozet J, Calvas P, Gerber S, Camuzat A, Dollfus H, et al.
Nat Genet . 1996 Dec; 14(4):461-4. PMID: 8944027
Leber's congenital amaurosis (LCA, MIM 204,000), the earliest and most severe form of inherited retinopathy, accounts for at least 5% of all inherited retinal dystrophies. This autosomal recessive condition is...