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Items: 17

1.
2.

15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.

Huynh MT, Lambert AS, Tosca L, Petit F, Philippe C, Parisot F, Benoît V, Linglart A, Brisset S, Tran CT, Tachdjian G, Receveur A.

Eur J Med Genet. 2018 Aug;61(8):459-464. doi: 10.1016/j.ejmg.2018.03.005. Epub 2018 Mar 14.

PMID:
29549028
3.

First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome.

Huynh MT, Tosca L, Petit F, Martinovic J, Proust A, Bouligand J, Amiel J, Azria E, Parisot F, Benoit V, Receveur A, Drévillon L, Tachdjian G, Brisset S.

Eur J Med Genet. 2018 Jun;61(6):322-328. doi: 10.1016/j.ejmg.2018.01.009. Epub 2018 Feb 3.

PMID:
29366875
4.

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.

Ben Yaou R, Hubert A, Nelson I, Dahlqvist JR, Gaist D, Streichenberger N, Beuvin M, Krahn M, Petiot P, Parisot F, Michel F, Malfatti E, Romero N, Carlier RY, Eymard B, Labrune P, Duno M, Krag T, Cerino M, Bartoli M, Bonne G, Vissing J, Laforet P, Petit FM.

Neurol Genet. 2017 Dec 18;3(6):e208. doi: 10.1212/NXG.0000000000000208. eCollection 2017 Dec.

5.

Confined blood chimerism in a monochorionic dizygotic sex discordant twin pregnancy conceived after induced ovulation.

Mayeur Le Bras A, Petit F, Benachi A, Bedel B, Oucherif S, Martinovic J, Armanet N, Tosca L, Gautier V, Parisot F, Labrune P, Tachdjian G, Brisset S.

Birth Defects Res A Clin Mol Teratol. 2016 Apr;106(4):298-303. doi: 10.1002/bdra.23457. Epub 2016 Mar 2.

PMID:
26931099
6.

DNA alterations and effects on growth and reproduction in Daphnia magna during chronic exposure to gamma radiation over three successive generations.

Parisot F, Bourdineaud JP, Plaire D, Adam-Guillermin C, Alonzo F.

Aquat Toxicol. 2015 Jun;163:27-36. doi: 10.1016/j.aquatox.2015.03.002. Epub 2015 Mar 17.

PMID:
25840277
7.

Consequences of a multi-generation exposure to uranium on Caenorhabditis elegans life parameters and sensitivity.

Goussen B, Parisot F, Beaudouin R, Dutilleul M, Buisset-Goussen A, Péry AR, Bonzom JM.

Ecotoxicology. 2013 Jul;22(5):869-78. doi: 10.1007/s10646-013-1078-5. Epub 2013 May 14.

8.

Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.

Ben Rhouma F, Azzouz H, Petit FM, Khelifa MB, Chehida AB, Nasrallah F, Parisot F, Lasram K, Kefi R, Bouyacoub Y, Romdhane L, Baussan C, Kaabachi N, Ben Dridi MF, Tebib N, Abdelhak S.

Mol Biol Rep. 2013 Jul;40(7):4197-202. doi: 10.1007/s11033-013-2500-z. Epub 2013 May 8.

PMID:
23649758
9.

A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome.

Petit FM, Hébert M, Picone O, Brisset S, Maurin ML, Parisot F, Capel L, Benattar C, Sénat MV, Tachdjian G, Labrune P.

Eur J Hum Genet. 2009 Mar;17(3):387-90. doi: 10.1038/ejhg.2008.186. Epub 2008 Oct 15.

10.

MDM2 gene SNP309 T/G and p53 gene SNP72 G/C do not influence diffuse large B-cell non-Hodgkin lymphoma onset or survival in central European Caucasians.

Bittenbring J, Parisot F, Wabo A, Mueller M, Kerschenmeyer L, Kreuz M, Truemper L, Landt O, Menzel A, Pfreundschuh M, Roemer K.

BMC Cancer. 2008 Apr 23;8:116. doi: 10.1186/1471-2407-8-116.

11.

The Tunisian population history through the Crigler-Najjar type I syndrome.

Petit FM, Bézieau S, Gajdos V, Parisot F, Scoul C, Capel L, Stozinic V, Khrouf N, M'Rad R, Koshy A, Mollet-Boudjemline A, Francoual J, Labrune P.

Eur J Hum Genet. 2008 Jul;16(7):848-53. doi: 10.1038/sj.ejhg.5201989. Epub 2008 Jan 16.

12.

Further evidence that the UGT1A1*28 allele is not associated with coronary heart disease: The ECTIM Study.

Gajdos V, Petit FM, Perret C, Mollet-Boudjemline A, Colin P, Capel L, Nicaud V, Evans A, Arveiler D, Parisot F, Francoual J, Genin E, Cambien F, Labrune P.

Clin Chem. 2006 Dec;52(12):2313-4. No abstract available.

13.

Crigler-Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene.

Petit F, Gajdos V, Capel L, Parisot F, Myara A, Francoual J, Labrune P.

Clin Genet. 2006 Jun;69(6):525-7. No abstract available.

PMID:
16712705
14.

Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.

Petit FM, Gajdos V, Parisot F, Capel L, Aboura A, Lachaux A, Tachdjian G, Poüs C, Labrune P.

Eur J Hum Genet. 2005 Mar;13(3):278-82.

15.

Allelic heterogeneity of Crigler-Najjar type I syndrome: a study of 24 cases.

Petit FM, Gajdos V, Francoual J, Capel L, Parisot F, Poüs C, Labrune P.

Clin Genet. 2004 Dec;66(6):571-2. No abstract available.

PMID:
15521991
16.

Simple column liquid chromatographic assay for serum neopterin.

Candito M, Cavenel C, Gugenheim J, Mouiel J, Parisot F, Jacomet Y, Sudaka P, Chambon P.

J Chromatogr. 1993 Apr 21;614(1):164-8.

PMID:
8496278
17.

[Increase of excretion of urinary catecholamines and its catabolites in a case of pulmonary sarcomatous tumor].

Candito M, Bekri S, Monpoux P, Parisot F, Mariani R, Chambon P.

Pathol Biol (Paris). 1992 Dec;40(10):1003-5. French.

PMID:
1299807

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