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Results: 1 to 20 of 54

1.

Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.

Ghoumid J, Petit F, Holder-Espinasse M, Jourdain AS, Guerra J, Dieux-Coeslier A, Figeac M, Porchet N, Manouvrier-Hanu S, Escande F.

Eur J Hum Genet. 2015 Apr 22. doi: 10.1038/ejhg.2015.77. [Epub ahead of print]

PMID:
25898926
2.

The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis.

Petit F, Jourdain AS, Holder-Espinasse M, Keren B, Andrieux J, Duterque-Coquillaud M, Porchet N, Manouvrier-Hanu S, Escande F.

Eur J Hum Genet. 2015 Mar 18. doi: 10.1038/ejhg.2015.53. [Epub ahead of print]

PMID:
25782671
3.

Outcome and Prognostic Factors of relapse in Children and Adolescents with Mature B-Cell Lymphoma and Leukemia treated in 3 consecutive prospective Lymphomes Malins B protocols. Study of the Société Française des Cancers de l'Enfant.

Jourdain A, Auperin A, Minard-Colin V, Aladjidi N, Zsiros J, Coze C, Gandemer V, Bertrand Y, Leverger G, Bergeron C, Michon J, Patte C.

Haematologica. 2015 Feb 27. pii: haematol.2014.121434. [Epub ahead of print]

4.

A mitochondria-specific isoform of FASTK is present in mitochondrial RNA granules and regulates gene expression and function.

Jourdain AA, Koppen M, Rodley CD, Maundrell K, Gueguen N, Reynier P, Guaras AM, Enriquez JA, Anderson P, Simarro M, Martinou JC.

Cell Rep. 2015 Feb 24;10(7):1110-21. doi: 10.1016/j.celrep.2015.01.063. Epub 2015 Feb 19.

5.

Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing.

Vanlerberghe C, Faivre L, Petit F, Fruchart O, Jourdain A, Clavier F, Gay S, Manouvrier-Hanu S, Escande F.

Clin Genet. 2014 Nov 10. doi: 10.1111/cge.12534. [Epub ahead of print]

PMID:
25382487
6.

Biochemical and biophysical characterization of the selenium-binding and reducing site in Arabidopsis thaliana homologue to mammals selenium-binding protein 1.

Schild F, Kieffer-Jaquinod S, Palencia A, Cobessi D, Sarret G, Zubieta C, Jourdain A, Dumas R, Forge V, Testemale D, Bourguignon J, Hugouvieux V.

J Biol Chem. 2014 Nov 14;289(46):31765-76. doi: 10.1074/jbc.M114.571208. Epub 2014 Oct 1.

PMID:
25274629
7.

A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression.

Wilson WC, Hornig-Do HT, Bruni F, Chang JH, Jourdain AA, Martinou JC, Falkenberg M, Spåhr H, Larsson NG, Lewis RJ, Hewitt L, Baslé A, Cross HE, Tong L, Lebel RR, Crosby AH, Chrzanowska-Lightowlers ZM, Lightowlers RN.

Hum Mol Genet. 2014 Dec 1;23(23):6345-55. doi: 10.1093/hmg/ddu352. Epub 2014 Jul 9.

8.

[Reconstruction of nasal skin defect].

Jourdain A, Vimont T, Arnaud D, Darsonval V, Huguier V, Rousseau P.

Ann Chir Plast Esthet. 2013 Oct;58(5):515-43. doi: 10.1016/j.anplas.2013.07.002. Epub 2013 Oct 16. French.

PMID:
24138837
9.

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.

Petit F, Escande F, Jourdain AS, Porchet N, Amiel J, Doray B, Delrue MA, Flori E, Kim CA, Marlin S, Robertson SP, Manouvrier-Hanu S, Holder-Espinasse M.

Clin Genet. 2014 Sep;86(3):246-51. doi: 10.1111/cge.12259. Epub 2013 Sep 12.

PMID:
24003905
10.

Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.

Petit F, Jourdain AS, Andrieux J, Baujat G, Baumann C, Beneteau C, David A, Faivre L, Gaillard D, Gilbert-Dussardier B, Jouk PS, Le Caignec C, Loget P, Pasquier L, Porchet N, Holder-Espinasse M, Manouvrier-Hanu S, Escande F.

Clin Genet. 2014 May;85(5):464-9. doi: 10.1111/cge.12219. Epub 2013 Jul 15.

PMID:
23790188
11.

GRSF1 regulates RNA processing in mitochondrial RNA granules.

Jourdain AA, Koppen M, Wydro M, Rodley CD, Lightowlers RN, Chrzanowska-Lightowlers ZM, Martinou JC.

Cell Metab. 2013 Mar 5;17(3):399-410. doi: 10.1016/j.cmet.2013.02.005.

12.

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.

Gordon CT, Petit F, Oufadem M, Decaestecker C, Jourdain AS, Andrieux J, Malan V, Alessandri JL, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Delobel B, Dieterich K, Gaillard D, Gonzales M, Lacombe D, Escande F, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Mehta SG, Simonic I, Munnich A, Vekemans M, Porchet N, de Pontual L, Sarnacki S, Attie-Bitach T, Lyonnet S, Holder-Espinasse M, Amiel J.

J Med Genet. 2012 Dec;49(12):737-46. doi: 10.1136/jmedgenet-2012-101173.

PMID:
23188108
13.

A case of severe toxicity during coadministration of vincristine and piperacillin: are drug transporters involved in vincristine hypersensitivity and drug-drug interactions?

Le Guellec C, Benz-de Bretagne I, Jonville-Bera AP, Tarfaoui N, Andres CR, Gendrot C, Jourdain A.

J Pediatr Hematol Oncol. 2012 Nov;34(8):e341-3. doi: 10.1097/MPH.0b013e318257a4ae.

PMID:
22627576
14.

Guidelines for the diagnosis and treatment of cutaneous squamous cell carcinoma and precursor lesions.

Bonerandi JJ, Beauvillain C, Caquant L, Chassagne JF, Chaussade V, Clavère P, Desouches C, Garnier F, Grolleau JL, Grossin M, Jourdain A, Lemonnier JY, Maillard H, Ortonne N, Rio E, Simon E, Sei JF, Grob JJ, Martin L; French Dermatology Recommendations Association (aRED).

J Eur Acad Dermatol Venereol. 2011 Dec;25 Suppl 5:1-51. doi: 10.1111/j.1468-3083.2011.04296.x. No abstract available.

PMID:
22070399
15.

Evidence for functional interaction between brassinosteroids and cadmium response in Arabidopsis thaliana.

Villiers F, Jourdain A, Bastien O, Leonhardt N, Fujioka S, Tichtincky G, Parcy F, Bourguignon J, Hugouvieux V.

J Exp Bot. 2012 Feb;63(3):1185-200. doi: 10.1093/jxb/err335. Epub 2011 Nov 29.

16.

[The nutritional care of a child suffering from neuroblastoma].

Boisson M, Senon G, Jourdain A, Amar S, Lardy H, Labarthe F.

Soins Pediatr Pueric. 2011 May-Jun;(260):39-43. French.

PMID:
21702212
17.

Mitochondrial dynamics: quantifying mitochondrial fusion in vitro.

Jourdain A, Martinou JC.

BMC Biol. 2010 Jul 26;8:99. doi: 10.1186/1741-7007-8-99.

18.

Arabidopsis putative selenium-binding protein1 expression is tightly linked to cellular sulfur demand and can reduce sensitivity to stresses requiring glutathione for tolerance.

Hugouvieux V, Dutilleul C, Jourdain A, Reynaud F, Lopez V, Bourguignon J.

Plant Physiol. 2009 Oct;151(2):768-81. doi: 10.1104/pp.109.144808. Epub 2009 Aug 26.

19.

Is pegfilgrastim safe and effective in congenital neutropenia? An analysis of the French Severe Chronic Neutropenia registry.

Beaupain B, Leblanc T, Reman O, Hermine O, Vannier JP, Suarez F, Lutz P, Bordigoni P, Jourdain A, Schoenvald M, Ouachee M, François S, Kohser F, Jardin F, Devouassoux G, Bertrand Y, Nove-Josserand R, Donadieu J; French SCN Registry, Service d'Hémato Oncologie Pédiatrique.

Pediatr Blood Cancer. 2009 Dec;53(6):1068-73. doi: 10.1002/pbc.22147.

PMID:
19618456
20.

Mitochondrial outer-membrane permeabilization and remodelling in apoptosis.

Jourdain A, Martinou JC.

Int J Biochem Cell Biol. 2009 Oct;41(10):1884-9. doi: 10.1016/j.biocel.2009.05.001. Epub 2009 May 9. Review.

PMID:
19439192
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