Philibert L - Search Results

1

Combined mutation and rearrangement screening by quantitative PCR high-resolution melting: is it relevant for hereditary recurrent Fever genes?

Pallares-Ruiz N, Philibert L, Dumont B, Fabre A, Cuisset L, Cointin E, Rittore C, Soler S, Touitou I. Pallares-Ruiz N, et al. Among authors: philibert l. PLoS One. 2010 Nov 23;5(11):e14096. doi: 10.1371/journal.pone.0014096. PLoS One. 2010. PMID: 21124859 Free PMC article.

2

A comparison of restriction fragment length polymorphism, tetra primer amplification refractory mutation system PCR and unlabeled probe melting analysis for LTA+252 C>T SNP genotyping.

Soler S, Rittore C, Touitou I, Philibert L. Soler S, et al. Among authors: philibert l. Clin Chim Acta. 2011 Feb 20;412(5-6):430-4. doi: 10.1016/j.cca.2010.11.012. Epub 2010 Nov 19. Clin Chim Acta. 2011. PMID: 21094154

3

An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement.

Touitou I, Rittore C, Philibert L, Yagüe J, Shinar Y, Aksentijevich I. Touitou I, et al. Among authors: philibert l. Eur J Hum Genet. 2009 Jul;17(7):890-6. doi: 10.1038/ejhg.2008.253. Epub 2009 Jan 28. Eur J Hum Genet. 2009. PMID: 19172992 Free PMC article.

4

Screening for NLRP7 mutations in familial and sporadic recurrent hydatidiform moles: report of 2 Tunisian families.

Landolsi H, Rittore C, Philibert L, Missaoui N, Hmissa S, Touitou I, Gribaa M, Yacoubi MT. Landolsi H, et al. Among authors: philibert l. Int J Gynecol Pathol. 2011 Jul;30(4):348-53. doi: 10.1097/PGP.0b013e31820dc3b0. Int J Gynecol Pathol. 2011. PMID: 21623199

5

The spectrum of NLRP7 mutations in French patients with recurrent hydatidiform mole.

Muhlstein J, Golfier F, Rittore C, Hajri T, Philibert L, Abel F, Beneteau C, Touitou I. Muhlstein J, et al. Among authors: philibert l. Eur J Obstet Gynecol Reprod Biol. 2011 Aug;157(2):197-9. doi: 10.1016/j.ejogrb.2011.02.019. Epub 2011 Mar 25. Eur J Obstet Gynecol Reprod Biol. 2011. PMID: 21439709

6

Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres.

van Gijn ME, Soler S, de la Chapelle C, Mulder M, Ritorre C, Kriek M, Philibert L, van der Wielen M, Frenkel J, Grandemange S, Bakker E, Ploos van Amstel JK, Touitou I. van Gijn ME, et al. Among authors: philibert l. Eur J Hum Genet. 2008 Nov;16(11):1404-6. doi: 10.1038/ejhg.2008.135. Epub 2008 Jul 23. Eur J Hum Genet. 2008. PMID: 18648395

7

NLRP7 mutation analysis in sporadic hydatidiform moles in Tunisian patients: NLRP7 and sporadic mole.

Landolsi H, Rittore C, Philibert L, Hmissa S, Gribaa M, Touitou I, Yacoubi MT. Landolsi H, et al. Among authors: philibert l. Arch Pathol Lab Med. 2012 Jun;136(6):646-51. doi: 10.5858/arpa.2011-0399-OA. Arch Pathol Lab Med. 2012. PMID: 22646272 Free article.

8

Homozygous NLRP7 mutations in a Moroccan woman with recurrent reproductive failure.

Puechberty J, Rittore C, Philibert L, Lefort G, Burlet G, Bénos P, Reyftmann L, Sarda P, Touitou I. Puechberty J, et al. Among authors: philibert l. Clin Genet. 2009 Mar;75(3):298-300. doi: 10.1111/j.1399-0004.2008.01098.x. Epub 2008 Nov 20. Clin Genet. 2009. PMID: 19054016 No abstract available.

9

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.

Parry DA, Logan CV, Hayward BE, Shires M, Landolsi H, Diggle C, Carr I, Rittore C, Touitou I, Philibert L, Fisher RA, Fallahian M, Huntriss JD, Picton HM, Malik S, Taylor GR, Johnson CA, Bonthron DT, Sheridan EG. Parry DA, et al. Among authors: philibert l. Am J Hum Genet. 2011 Sep 9;89(3):451-8. doi: 10.1016/j.ajhg.2011.08.002. Epub 2011 Sep 1. Am J Hum Genet. 2011. PMID: 21885028 Free PMC article.

10

[Interest of UGT1A1 genotyping within digestive cancers treatment by irinotecan].

Boyer JC, Etienne-Grimaldi MC, Thomas F, Quaranta S, Picard N, Loriot MA, Poncet D, Gagnieu MC, Ged C, Broly F, Le Morvan V, Bouquié R, Gaub MP, Philibert L, Ghiringhelli F, Le Guellec C. Boyer JC, et al. Among authors: philibert l. Bull Cancer. 2014 Jun;101(6):533-53. doi: 10.1684/bdc.2014.1933. Bull Cancer. 2014. PMID: 24977443 Review. French.

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