Gueguen P - Search Results

1

STAC3 related congenital myopathy: A case series of seven Comorian patients.

Gromand M, Gueguen P, Pervillé A, Ferroul F, Morel G, Harouna A, Doray B, Urtizberea JA, Alessandri JL, Robin S. Gromand M, et al. Among authors: gueguen p. Eur J Med Genet. 2022 Oct;65(10):104598. doi: 10.1016/j.ejmg.2022.104598. Epub 2022 Aug 25. Eur J Med Genet. 2022. PMID: 36030003

2

High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.

Gouronc A, Zilliox V, Jacquemont ML, Darcel F, Leuvrey AS, Nourisson E, Antin M, Alessandri JL, Doray B, Gueguen P, Payet F, Randrianaivo H, Stoetzel C, Scheidecker S, Flodrops H, Dollfus H, Muller J. Gouronc A, et al. Among authors: gueguen p. Clin Genet. 2020 Aug;98(2):166-171. doi: 10.1111/cge.13768. Epub 2020 Jun 22. Clin Genet. 2020. PMID: 32361989

3

Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.

Guéguen P, Dupuis A, Py JY, Desprès A, Masson E, Le Marechal C, Cooper DN, Gachet C, Chen JM, Férec C. Guéguen P, et al. Transfusion. 2020 Oct;60(10):2419-2431. doi: 10.1111/trf.15992. Epub 2020 Aug 5. Transfusion. 2020. PMID: 32757236

4

Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy.

Redon S, Benech C, Schutz S, Despres A, Gueguen P, Le Berre P, Le Marechal C, Peudenier S, Meriot P, Parent P, Ferec C. Redon S, et al. Among authors: gueguen p. Am J Med Genet A. 2017 May;173(5):1444-1446. doi: 10.1002/ajmg.a.38180. Epub 2017 Apr 3. Am J Med Genet A. 2017. PMID: 28371320 No abstract available.

5

ACTN1-related Macrothrombocytopenia: A Novel Entity in the Progressing Field of Pediatric Thrombocytopenia.

Boutroux H, David B, Guéguen P, Frange P, Vincenot A, Leverger G, Favier R. Boutroux H, et al. Among authors: gueguen p. J Pediatr Hematol Oncol. 2017 Nov;39(8):e515-e518. doi: 10.1097/MPH.0000000000000885. J Pediatr Hematol Oncol. 2017. PMID: 28562514

6

Next-generation sequencing is a credible strategy for blood group genotyping.

Fichou Y, Audrézet MP, Guéguen P, Le Maréchal C, Férec C. Fichou Y, et al. Among authors: gueguen p. Br J Haematol. 2014 Nov;167(4):554-62. doi: 10.1111/bjh.13084. Epub 2014 Aug 19. Br J Haematol. 2014. PMID: 25135605 Free article.

7

Next generation sequencing with a semi-conductor technology (Ion Torrent PGM™) for HLA typing: overall workflow performance and debate.

Moalic-Allain V, Mercier B, Gueguen P, Ferec C. Moalic-Allain V, et al. Among authors: gueguen p. Ann Biol Clin (Paris). 2016 Aug 1;74(4):449-56. doi: 10.1684/abc.2016.1161. Ann Biol Clin (Paris). 2016. PMID: 27492698 Free article. English.

8

Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).

Guéguen P, Chauvin A, Quémener-Redon S, Pan-Petesch B, Férec C, Abgrall JF, Le Maréchal C. Guéguen P, et al. Thromb Haemost. 2012 Jan;107(1):44-50. doi: 10.1160/TH11-06-0415. Epub 2011 Dec 8. Thromb Haemost. 2012. PMID: 22159456 Free PMC article.

9

Evidence for the high importance of co-morbid factors in HFE C282Y/H63D patients cared by phlebotomies: results from an observational prospective study.

Saliou P, Le Gac G, Mercier AY, Chanu B, Guéguen P, Mérour MC, Gourlaouen I, Autret S, Le Maréchal C, Rouault K, Nousbaum JB, Férec C, Scotet V. Saliou P, et al. Among authors: gueguen p. PLoS One. 2013 Dec 5;8(12):e81128. doi: 10.1371/journal.pone.0081128. eCollection 2013. PLoS One. 2013. PMID: 24339903 Free PMC article.

10

A new point mutation in EPOR inducing a short deletion in congenital erythrocytosis.

Chauveau A, Luque Paz D, Lecucq L, Le Gac G, Le Maréchal C, Gueguen P, Berthou C, Ugo V. Chauveau A, et al. Among authors: gueguen p. Br J Haematol. 2016 Feb;172(3):475-7. doi: 10.1111/bjh.13511. Epub 2015 May 26. Br J Haematol. 2016. PMID: 26010769 Free article. No abstract available.

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