PUBLICATIONS of MMG

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Résultats : 4167  publications trouvées.

Epilepsia. 2015 Dec, .  et al. 0

Di Meglio C

10.1111/epi.13214
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Popp B, .  et al. 0

Tamer C

Hellenbroich Y
Villard L - issue: von Spiczak S - volume: Tönnies H - pages: Rauch A.

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Hum Mutat. 2015 Dec, .  et al. 0

Grozeva D

10.1002/humu.22901
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GABRG2): A cohort study, .  et al. 0

review of literature

L
Lesca G - issue: Ward - volume: Spitz MA - pages: Porter LF.

Louboutin JP, .  et al. 0

Recan D

Fontes M.;"Eur J Hum Genet. 2000 Feb;8(2):125-9. doi: 10.1038/sj.ejhg.5200432.";Villard L;Eur J Hum Genet;2000;11/04/2000;;;10.1038/sj.ejhg.5200432
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, .  et al. 0

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E., .  et al. 0

C.; McMahon

O.; Novara
and epilepsy associated with 5q14.3-q15 deletion.;Neurology;;1526-632X 0028-3878;10.1212/01.wnl.0000336339.08878.2d;;BACKGROUND: Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically p - issue: I. E.; Guerrini - volume: R.";Periventricular heterotopia - pages: H. R.; Moncla.

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Mov Disord. 2015 Sep, .  et al. 0

Doummar D

10.1002/mds.26303
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De Saint Martin A, .  et al. 0

Milh M." "Epilepsia. 2022 Oct;63(10):2519-2533. doi: 10.1111/epi.17336. Epub 2022 Aug 13." Maillard PY Epilepsia 2022 20/06/2022 PMC9804453 10.1111/epi.17336

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Héron D, .  et al. 0

Bastaraud SC

Forsythe E
Kamien B - issue: Levy J - volume: Guet A - pages: de Villemeur TB.

Pierre, .  et al. 0

Sandra; Fredriksen

Dominique; Dubourg
Anne";TCF4 deletions in Pitt-Hopkins Syndrome;Human Mutation;;1098-1004;10.1002/humu.20859;;Pitt-Hopkins syndrome (PHS) is a probably underdiagnosed - issue: Pierre; Villard - volume: Laurent; Goossens - pages: Jean; Philip.

and bilateral PH in the walls of the temporal horns of the lateral ventricles, .  et al. 0

associated with a de novo deletion of the 5q14.3-15 region. We used microarray-based comparative genomic hybridization to define the boundaries of the deletions. RESULTS: The three patients shared a common deleted region spanning 5.8 Mb and containing 14 candidate genes. CONCLUSION: We identified a new syndrome featuring bilateral periventricular heterotopia (PH)

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recurrent infections and feeding difficulties. Degenerative features included early regression, .  et al. 0

acquired microcephaly and cerebral atrophy. Brain MRI revealed bilateral periventricular heterotopia

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Eur J Hum Genet. 2016 Apr, .  et al. 0

Abidi A

10.1038/ejhg.2015.159
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Wood JC, .  et al. 0

Sveden A

Azzarello-Burri S
Curr - issue: Charles P - volume: Cox H - pages: Carre W.

Borges-Correia A, .  et al. 0

Barkats M

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