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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 1
2000 1
2003 3
2004 3
2006 2
2007 1
2008 3
2009 2
2011 1
2012 2
2014 1
2015 1
2017 1
2018 2
2020 1
2021 3
2022 0
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24 results
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Page 1
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
Stheneur C, Collod-Béroud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C. Stheneur C, et al. Among authors: muti c. Eur J Hum Genet. 2009 Sep;17(9):1121-8. doi: 10.1038/ejhg.2009.36. Epub 2009 Mar 18. Eur J Hum Genet. 2009. PMID: 19293843 Free PMC article.
MAN1B1-CDG: Three new individuals and associated biochemical profiles.
Sakhi S, Cholet S, Wehbi S, Isidor B, Cogne B, Vuillaumier-Barrot S, Dupré T, Detleft T, Schmitt E, Leheup B, Bonnet C, Feillet F, Muti C, Fenaille F, Bruneel A. Sakhi S, et al. Among authors: muti c. Mol Genet Metab Rep. 2021 Jun 2;28:100775. doi: 10.1016/j.ymgmr.2021.100775. eCollection 2021 Sep. Mol Genet Metab Rep. 2021. PMID: 34141584 Free PMC article.
Utility of genetic testing for prenatal presentations of hypophosphatasia.
Sperelakis-Beedham B, Taillandier A, Domingues C, Guberto M, Colin E, Porquet-Bordes V, Rothenbuhler A, Salles JP, Wenkert D, Zankl A, Muti C, Bacrot S, Simon-Bouy B, Mornet E. Sperelakis-Beedham B, et al. Among authors: muti c. Mol Genet Metab. 2021 Mar;132(3):198-203. doi: 10.1016/j.ymgme.2021.01.009. Epub 2021 Jan 27. Mol Genet Metab. 2021. PMID: 33549410
Genetic analysis of adults heterozygous for ALPL mutations.
Taillandier A, Domingues C, Dufour A, Debiais F, Guggenbuhl P, Roux C, Cormier C, Cortet B, Porquet-Bordes V, Coury F, Geneviève D, Chiesa J, Colin T, Fletcher E, Guichet A, Javier RM, Laroche M, Laurent M, Lausch E, LeHeup B, Lukas C, Schwabe G, van der Burgt I, Muti C, Simon-Bouy B, Mornet E. Taillandier A, et al. Among authors: muti c. J Bone Miner Metab. 2018 Nov;36(6):723-733. doi: 10.1007/s00774-017-0888-6. Epub 2017 Dec 13. J Bone Miner Metab. 2018. PMID: 29236161
[Aortic aneurysms excluding Marfan's syndrome].
Jondeau G, Muti C, Boileau C. Jondeau G, et al. Among authors: muti c. Arch Mal Coeur Vaiss. 2003 Nov;96(11):1074-80. Arch Mal Coeur Vaiss. 2003. PMID: 14694783 Review. French.
Marfan syndrome and fibrillin disorders.
Le Parc JM, Molcard S, Tubach F, Boileau C, Jondeau G, Muti C, Chevallier B, Pisella PJ. Le Parc JM, et al. Among authors: muti c. Joint Bone Spine. 2000;67(5):401-7. Joint Bone Spine. 2000. PMID: 11143906 Review.
Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study.
Egloff M, Hervé B, Quibel T, Jaillard S, Le Bouar G, Uguen K, Saliou AH, Valduga M, Perdriolle E, Coutton C, Coston AL, Coussement A, Anselem O, Missirian C, Bretelle F, Prieur F, Fanget C, Muti C, Jacquemot MC, Beneteau C, Le Vaillant C, Vekemans M, Salomon LJ, Vialard F, Malan V. Egloff M, et al. Among authors: muti c. Ultrasound Obstet Gynecol. 2018 Dec;52(6):715-721. doi: 10.1002/uog.18928. Ultrasound Obstet Gynecol. 2018. PMID: 29027723 Free article.
Maternal complication of pregnancy in Marfan syndrome.
Pacini L, Digne F, Boumendil A, Muti C, Detaint D, Boileau C, Jondeau G. Pacini L, et al. Among authors: muti c. Int J Cardiol. 2009 Aug 14;136(2):156-61. doi: 10.1016/j.ijcard.2008.04.035. Epub 2008 Jul 15. Int J Cardiol. 2009. PMID: 18632169
24 results