PUBLICATIONS of MMG

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Résultats : 4167  publications trouvées.

, .  et al. 0

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N., .  et al. 0

M. C.; Jonveaux

M.; Tardieu
- issue: we selected 46 typical RTT patients and performed mutation screening by denaturing gradient gel electrophoresis com - volume: - pages: MECP2.


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C., .  et al. 0

J. L.; Sanchis

respectively) and almost all the serotypes were subjected to ribotyping
- issue: that were clearly distinct from those observed for biot - volume: - pages: and HD being encountered most often (66 strains [74%]); and 20 ribotypes.


Lossi AM, .  et al. 0

Chelly J

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V. Iu, .  et al. 0

L.; Demidova

P. V.; Iurov
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have been found with multiple recurrences. Most of the mutations were de novo, .  et al. 0

except in one family where the non-affected transmitter mother exhibited a bias of X inactivation. Although this study showed that MECP2 mutations account for most cases of typical forms of RTT (65%) and mutations in non-coding regions cannot be excluded for the remaining cases

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Jérôme, .  et al. 0

Laurent; Villeneuve

Gaetan; Charles
electroencephalographi - issue: encoding the α-2 subunit of GABA(A) receptors - volume: have been recently reported. This study aims to better delineate the phenotypic spectrum of GABRA2 pathogenic variants. We conducted a retrospective multicenter study - pages: Mathieu; Bar.


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Saillour Y, .  et al. 0

Castelnau L

Bourgeois M
- issue: Pinard JM - volume: Beldjord C - pages: Roubertie A.


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featured early infantile developmental and epileptic encephalopathy with an EEG pattern of rapid rhythms suggestive of GABAergic hyperactivity. The milder phenotype, .  et al. 0

in two of six patients

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the introns are compressed only five- to eightfold. These size differences were compared with those for a number of previously reported Fugu genes, .  et al. 0

levels of compaction of Fugu genes are consistent with the isochore locations of the human homologues.";21/01/1999;04/08/2025 08:04;04/08/2025 08:04;;211-223;;2;226;;Gene;;;;;;;;eng;;;;;;;Place: Netherlands PMID: 9931491

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Moncla A, .  et al. 0

Ayrault AD

Moraine C. "Am J Med Genet. 1996 Jul 12;64(1):97-106. doi:...
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A. M., .  et al. 0

L.; Cardoso

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whereas this was not the case for biotype T strains. PFGE appeared to be more efficient in strain discrimination since selected strains from various zoological or geographical origins harboring the same ribotype-RAPD group were further separated into unique entities.", .  et al. 0

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, .  et al. 0

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