MMG PUBLICATIONS

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Results: 4167  publications found.

Christodoulou J, .  et al. 0

Clarke AJ

Renieri A
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Clancy K, .  et al. 0

Gardiner K.;"Gene. 1998 Mar 27;210(1):17-24. doi: 10.1016/s0378-1119(98)00032-8.";Villard L;Gene;1998;23/05/1998;;;10.1016/s0378-1119(98)00032-8

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R., .  et al. 0

D.; De Filippis

A.; Chabrol
A.";Novel FOXG1 mutations associated with the congenital variant of Rett syndrome;Journal of Medical Genetics;;1468-6244;10.1136/jmg.2009.067884;;BACKGROUND: Rett syndrome is a severe neurodevelopmental disorder representing one of the most common geneti - issue: E.; Mari - volume: F.; Ariani - pages: A.; Pineda.


Laurent", .  et al. 0

the rate-limiting enzyme in catecholamine synthesis

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, .  et al. 0

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Am J Hum Genet. 2014 Jul 3, .  et al. 0

Thevenon J

10.1016/j.ajhg.2014.06.006
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, .  et al. 0

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Vanni N, .  et al. 0

Cacciagli P

Villard L
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Spain and Latvia. Clinical data have been compared with the two previously reported patients with mutations in FOXG1. In all cases hypotonia, .  et al. 0

irresponsiveness and irritability were present in the neonatal period. At birth

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AM (-35%) of Mecp2-/y mice and to a lesser extent in the PG (-11%) and AM (-18%) in Mecp2+/- mice. We evaluated in vivo the chemoreflex sensitivity of Mecp2-/y mice using whole-body plethysmography to record the breathing of Mecp2-/y mice in normoxia and in response to acute hypoxia (10% O(2)). Our results show that the hypoxic ventilatory response is significantly increased in Mecp2-/y mice (+50%) demonstrating in vivo disturbances of the chemoafferent pathway. In conclusion, .  et al. 0

our results offer new insights to better understand the mechanisms leading to autonomic dysfunction in RS.;05/12/2008;07/03/2016 15:17;23/06/2020 08:44;;82-86;;1;447;;Neurosci. Lett.;;;;;;;;eng;;;;;PubMed;;PMID: 18834926

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, .  et al. 0

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Am J Med Genet A. 2014 Sep, .  et al. 0

Poulton CJ

10.1002/ajmg.a.36611
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Spasic-Boskovic O, .  et al. 0

Tejada MI

Friend K
Keavney B - issue: Floyd JA - volume: Bentham J - pages: Stevenson R.


Kaminska A, .  et al. 0

Laroche C

Mignon-Ravix C
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, .  et al. 0

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Pierre, .  et al. 0

André; Villard

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Nicolas, .  et al. 0

Philippe; Koller

Christoph; Briel
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Am J Med Genet A. 2014 Aug, .  et al. 0

Mignon-Ravix C

10.1002/ajmg.a.36602
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Ghata A, .  et al. 0

Villard L

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