Labrune P - Search Results

1

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.

Valayannopoulos V, Michot C, Rodriguez D, Hubert L, Saillour Y, Labrune P, de Laveaucoupet J, Brunelle F, Amiel J, Lyonnet S, Enza-Razavi F, Attié-Bitach T, Lacombe D, Bahi-Buisson N, Desguerre I, Chelly J, Burglen L, Boddaert N, de Lonlay P. Valayannopoulos V, et al. Among authors: labrune p. Brain. 2012 Jan;135(Pt 1):e199; author reply e200. doi: 10.1093/brain/awr108. Epub 2011 May 23. Brain. 2012. PMID: 21609947 No abstract available.

2

[Correlations between genotype and phenotype in children with phenylketonuria?].

Labrune P, Lyonnet S. Labrune P, et al. Arch Fr Pediatr. 1991 May;48(5):369-70. Arch Fr Pediatr. 1991. PMID: 1859242 Review. French. No abstract available.

3

Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy.

Labrune P, Lacroix C, Goutières F, de Laveaucoupet J, Chevalier P, Zerah M, Husson B, Landrieu P. Labrune P, et al. Neurology. 1996 May;46(5):1297-301. doi: 10.1212/wnl.46.5.1297. Neurology. 1996. PMID: 8628470 Clinical Trial.

4

Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet.

Valayannopoulos V, Bajolle F, Arnoux JB, Dubois S, Sannier N, Baussan C, Petit F, Labrune P, Rabier D, Ottolenghi C, Vassault A, Broissand C, Bonnet D, de Lonlay P. Valayannopoulos V, et al. Among authors: labrune p. Pediatr Res. 2011 Dec;70(6):638-41. doi: 10.1203/PDR.0b013e318232154f. Pediatr Res. 2011. PMID: 21857385

5

Progressive neuronal degeneration of childhood: prenatal diagnosis by MRI.

de Laveaucoupet J, Roffi F, Audibert F, Guis F, Lacroix C, Villeneuve N, Landrieu P, Labrune P. de Laveaucoupet J, et al. Among authors: labrune p. Prenat Diagn. 2005 Apr;25(4):307-10. doi: 10.1002/pd.1128. Prenat Diagn. 2005. PMID: 15852481

6

Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.

Davit-Spraul A, Piraud M, Dobbelaere D, Valayannopoulos V, Labrune P, Habes D, Bernard O, Jacquemin E, Baussan C. Davit-Spraul A, et al. Among authors: labrune p. Mol Genet Metab. 2011 Sep-Oct;104(1-2):137-43. doi: 10.1016/j.ymgme.2011.05.010. Epub 2011 May 17. Mol Genet Metab. 2011. PMID: 21646031

7

Increased paternal age in CHARGE association.

Tellier AL, Lyonnet S, Cormier-Daire V, de Lonlay P, Abadie V, Baumann C, Bonneau D, Labrune P, Lacombe D, Le Merrer M, Nivelon A, Philip N, Briard ML, Munnich A. Tellier AL, et al. Among authors: labrune p. Clin Genet. 1996 Dec;50(6):548-50. doi: 10.1111/j.1399-0004.1996.tb02736.x. Clin Genet. 1996. PMID: 9147897

8

Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter.

Gruchy N, Jacquemont ML, Lyonnet S, Labrune P, El Kamel I, Siffroi JP, Portnoï MF. Gruchy N, et al. Among authors: labrune p. Am J Med Genet A. 2007 Oct 15;143A(20):2417-22. doi: 10.1002/ajmg.a.31931. Am J Med Genet A. 2007. PMID: 17853488

9

Impact of chest radiography for children with lower respiratory tract infection: a propensity score approach.

Ecochard-Dugelay E, Beliah M, Boisson C, Perreaux F, de Laveaucoupet J, Labrune P, Epaud R, Ducou-Lepointe H, Bouyer J, Gajdos V. Ecochard-Dugelay E, et al. Among authors: labrune p. PLoS One. 2014 May 2;9(5):e96189. doi: 10.1371/journal.pone.0096189. eCollection 2014. PLoS One. 2014. PMID: 24788944 Free PMC article.

10

Clinical predictors of radiographic abnormalities among infants with bronchiolitis in a paediatric emergency department.

Ecochard-Dugelay E, Beliah M, Perreaux F, de Laveaucoupet J, Bouyer J, Epaud R, Labrune P, Ducou-Lepointe H, Gajdos V. Ecochard-Dugelay E, et al. Among authors: labrune p. BMC Pediatr. 2014 Jun 6;14:143. doi: 10.1186/1471-2431-14-143. BMC Pediatr. 2014. PMID: 24906343 Free PMC article.

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