Institution
University of Rennes
Education•Rennes, France•
About: University of Rennes is a education organization based out in Rennes, France. It is known for research contribution in the topics: Population & Catalysis. The organization has 18404 authors who have published 40374 publications receiving 995327 citations.
Papers published on a yearly basis
Papers
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TL;DR: In this article, a high-resolution array comparative genomic hybridization (CGH) was used to characterize microdeletions in 70 unrelated NF1 microdeleted patients, compared to patients with intragenic truncating NF1 mutations and phenotyped in the same standardized way.
Abstract: In 5-10% of patients, neurofibromatosis type 1 (NF1) results from microdeletions that encompass the entire NF1 gene and a variable number of flanking genes. Two recurrent microdeletion types are found in most cases, with microdeletion breakpoints located in paralogous regions flanking NF1 (proximal NF1-REP-a and distal NF1-REP–c for the 1.4 Mb type-1 microdeletion, and SUZ12 and SUZ12P for the 1.2 Mb type-2 microdeletion). A more severe phenotype is usually associated with NF1 microdeletion patients than in those with intragenic mutations. We characterized NF1 microdeletions in 70 unrelated NF1 microdeleted patients using a high-resolution NF1 custom array comparative genomic hybridization (CGH). Genotype-phenotype correlations were studied in 58 of these microdeletion patients and compared to 389 patients with intragenic truncating NF1 mutations and phenotyped in the same standardized way. Our results confirmed in an unbiased manner the existence of a contiguous gene syndrome with a significantly higher incidence of learning disabilities and facial dysmorphism in microdeleted patients compared to patients with intragenic NF1 mutations. Microdeleted NF1 patients also showed a trend toward significance for childhood overgrowth. High-resolution array-CGH identified a new recurrent ∼1.0 Mb microdeletion type, designated as type-3, with breakpoints in the paralogous regions middle NF1-REP-b and distal NF1-REP–c.
208 citations
TL;DR: For sequences of stochastic integral K ≥ 0, this article showed that functional limit theorem holds under simple natural conditions, and showed that the functional limit Theorem holds for K ≥ 1.
Abstract: For sequences of stochastic Integrals K
n
.X
n
, functional limit Theorems are presented, these results hold under simple natural conditions.
207 citations
TL;DR: In this paper, the authors measured the dissolution rate of calcite at a range of pH (4.5-8.3) and temperature (3-80°C) and showed that the rate enhancement increased with increasing pH and decreasing temperature.
207 citations
TL;DR: The presence of a member of the aquaporin family of water channels, AQP8, is shown and the strikingly high water permeability (Pf) characterizing the rat liver IMM is demonstrated, suggesting that AQP 8-mediated water transport may be particularly important for rapid expansions of mitochondrial volume.
207 citations
TL;DR: In this paper, a formal biozonation for the Ordovician chitinozoans of the Northern Gondwana Domain is proposed based on the study of several thousand assemblages recovered from closely spaced samples (both outcrop and subsurface material).
207 citations
Authors
Showing all 18470 results
| Name | H-index | Papers | Citations |
|---|---|---|---|
| Philippe Froguel | 166 | 820 | 118816 |
| Bart Staels | 152 | 824 | 86638 |
| Yi Yang | 143 | 2456 | 92268 |
| Geoffrey Burnstock | 141 | 1488 | 99525 |
| Shahrokh F. Shariat | 118 | 1637 | 58900 |
| Lutz Ackermann | 116 | 669 | 45066 |
| Douglas R. MacFarlane | 110 | 864 | 54236 |
| Elliott H. Lieb | 107 | 512 | 57920 |
| Fu-Yuan Wu | 107 | 367 | 42039 |
| Didier Sornette | 104 | 1295 | 44157 |
| Stefan Hild | 103 | 452 | 68228 |
| Pierre I. Karakiewicz | 101 | 1207 | 40072 |
| Philippe Dubois | 101 | 1098 | 48086 |
| François Bondu | 100 | 440 | 69284 |
| Jean-Michel Savéant | 98 | 517 | 33518 |