Parisot F - Search Results

1

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. Petit FM, et al. Among authors: parisot f. Eur J Hum Genet. 2005 Mar;13(3):278-82. doi: 10.1038/sj.ejhg.5201342. Eur J Hum Genet. 2005. PMID: 15586176

2

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. Petit FM, et al. Among authors: parisot f. Eur J Hum Genet. 2008 Jul;16(7):848-53. doi: 10.1038/sj.ejhg.5201989. Epub 2008 Jan 16. Eur J Hum Genet. 2008. PMID: 18197191

3

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. Petit FM, et al. Among authors: parisot f. Eur J Hum Genet. 2009 Mar;17(3):387-90. doi: 10.1038/ejhg.2008.186. Epub 2008 Oct 15. Eur J Hum Genet. 2009. PMID: 18854864 Free PMC article.

4

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. Huynh MT, et al. Among authors: parisot f. Eur J Med Genet. 2018 Jun;61(6):322-328. doi: 10.1016/j.ejmg.2018.01.009. Epub 2018 Feb 3. Eur J Med Genet. 2018. PMID: 29366875

5

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. Huynh MT, et al. Among authors: parisot f. Eur J Med Genet. 2018 Aug;61(8):459-464. doi: 10.1016/j.ejmg.2018.03.005. Epub 2018 Mar 14. Eur J Med Genet. 2018. PMID: 29549028

6

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. Petit FM, et al. Among authors: parisot f. Clin Genet. 2004 Dec;66(6):571-2. doi: 10.1111/j.1399-0004.2004.00371.x. Clin Genet. 2004. PMID: 15521991 No abstract available.

7

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. Petit F, et al. Among authors: parisot f. Clin Genet. 2006 Jun;69(6):525-7. doi: 10.1111/j.1399-0004.2006.00616.x. Clin Genet. 2006. PMID: 16712705 No abstract available.

8

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. Mayeur Le Bras A, et al. Among authors: parisot f. Birth Defects Res A Clin Mol Teratol. 2016 Apr;106(4):298-303. doi: 10.1002/bdra.23457. Epub 2016 Mar 2. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 26931099

9

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. Gajdos V, et al. Among authors: parisot f. Clin Chem. 2006 Dec;52(12):2313-4. doi: 10.1373/clinchem.2006.078667. Clin Chem. 2006. PMID: 17138857 No abstract available.

10

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. Ben Yaou R, et al. Among authors: parisot f. Neurol Genet. 2017 Dec 18;3(6):e208. doi: 10.1212/NXG.0000000000000208. eCollection 2017 Dec. Neurol Genet. 2017. PMID: 29264399 Free PMC article.

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