Mancini J - Search Results

1

Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.

Moncla A, Kpebe A, Missirian C, Mancini J, Villard L. Moncla A, et al. Among authors: mancini j. Eur J Hum Genet. 2002 Jan;10(1):86-9. doi: 10.1038/sj.ejhg.5200761. Eur J Hum Genet. 2002. PMID: 11896461

2

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.

Philippe C, Villard L, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T. Philippe C, et al. Among authors: mancini j. Eur J Med Genet. 2006 Jan-Feb;49(1):9-18. doi: 10.1016/j.ejmg.2005.04.003. Eur J Med Genet. 2006. PMID: 16473305

3

The incidence of Rett syndrome in France.

Bienvenu T, Philippe C, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Feingold J, Chelly J, Villard L. Bienvenu T, et al. Among authors: mancini j. Pediatr Neurol. 2006 May;34(5):372-5. doi: 10.1016/j.pediatrneurol.2005.10.013. Pediatr Neurol. 2006. PMID: 16647997

4

Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome.

Roux JC, Dura E, Moncla A, Mancini J, Villard L. Roux JC, et al. Among authors: mancini j. Eur J Neurosci. 2007 Apr;25(7):1915-22. doi: 10.1111/j.1460-9568.2007.05466.x. Eur J Neurosci. 2007. PMID: 17439480

5

Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.

Moncla A, Malzac P, Livet MO, Voelckel MA, Mancini J, Delaroziere JC, Philip N, Mattei JF. Moncla A, et al. Among authors: mancini j. J Med Genet. 1999 Jul;36(7):554-60. J Med Genet. 1999. PMID: 10424818 Free PMC article.

6

[Clinical approach to mental retardation of genetic origin].

Livet MO, Moncla A, Philip N, Chabrol B, Mancini J. Livet MO, et al. Among authors: mancini j. Rev Neurol (Paris). 1999 Sep;155(8):593-5. Rev Neurol (Paris). 1999. PMID: 10486850 Review. French.

7

Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice.

Viemari JC, Roux JC, Tryba AK, Saywell V, Burnet H, Peña F, Zanella S, Bévengut M, Barthelemy-Requin M, Herzing LB, Moncla A, Mancini J, Ramirez JM, Villard L, Hilaire G. Viemari JC, et al. Among authors: mancini j. J Neurosci. 2005 Dec 14;25(50):11521-30. doi: 10.1523/JNEUROSCI.4373-05.2005. J Neurosci. 2005. PMID: 16354910 Free PMC article.

8

[Neuropsychological phenotypes of genetic diseases].

Livet MO, Cournelle MA, Moncla A, Mancini J. Livet MO, et al. Among authors: mancini j. Arch Pediatr. 2000 May;7 Suppl 2:112s-113s. doi: 10.1016/s0929-693x(00)80003-2. Arch Pediatr. 2000. PMID: 10904676 French. No abstract available.

9

Rett syndrome: revised diagnostic criteria and nomenclature.

Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium. Neul JL, et al. Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124. Ann Neurol. 2010. PMID: 21154482 Free PMC article.

10

Effect of desipramine on patients with breathing disorders in RETT syndrome.

Mancini J, Dubus JC, Jouve E, Roux JC, Franco P, Lagrue E, Castelnau P, Cances C, Chaix Y, Rougeot-Jung C, Cornu C, Desportes V, Vallée L, Bahi-Buisson N, Truillet R, Attolini L, Villard L, Blin O, Micallef J. Mancini J, et al. Ann Clin Transl Neurol. 2017 Dec 27;5(2):118-127. doi: 10.1002/acn3.468. eCollection 2018 Feb. Ann Clin Transl Neurol. 2017. PMID: 29468173 Free PMC article.

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