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Page 1
GM3 synthase deficiency in non-Amish patients.
Heide S, Jacquemont ML, Cheillan D, Renouil M, Tallot M, Schwartz CE, Miquel J, Bintner M, Rodriguez D, Darcel F, Buratti J, Haye D, Passemard S, Gras D, Perrin L, Capri Y, Gérard B, Piton A, Keren B, Thauvin-Robinet C, Duffourd Y, Faivre L, Poe C, Pervillé A, Héron D, Thévenon J, Arnaud L, LeGuern E, La Selva L, Vetro A, Guerrini R, Nava C, Mignot C. Heide S, et al. Among authors: darcel f. Genet Med. 2022 Feb;24(2):492-498. doi: 10.1016/j.gim.2021.10.007. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906476 Free article.
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: darcel f. Clin Genet. 2020 Aug;98(2):166-171. doi: 10.1111/cge.13768. Epub 2020 Jun 22. Clin Genet. 2020. PMID: 32361989
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.
Lerat J, Bonnet C, Cartault F, Loundon N, Jacquemont ML, Darcel F, Rouillon I, Mezouaghi K, Guichet A, Litzler J, Gesny R, Gherbi S, Aissa IB, Digeon FSJ, Garabedian EN, Bonnefont JP, Genin E, Denoyelle F, Jonard L, Marlin S. Lerat J, et al. Among authors: darcel f. Clin Genet. 2019 Jan;95(1):177-181. doi: 10.1111/cge.13460. Epub 2018 Nov 4. Clin Genet. 2019. PMID: 30298622
A recurrent familial partial lipodystrophy due to a monoallelic or biallelic LMNA founder variant highlights the multifaceted cardiac manifestations of metabolic laminopathies.
Treiber G, Flaus Furmaniuk A, Guilleux A, Medjane S, Bonfanti O, Schneebeli S, Bernard C, Le-Moullec N, Bakiri F, Pholsena M, Rollot O, Vatier C, Jarlet E, Jéru I, Lascols O, Darcel F, Domun B, Venault A, Venault S, Jacquemont ML, Doray B, Maiza JC, Cogne M, Vigouroux C, Nobécourt E. Treiber G, et al. Among authors: darcel f. Eur J Endocrinol. 2021 Aug 27;185(4):453-462. doi: 10.1530/EJE-21-0282. Eur J Endocrinol. 2021. PMID: 34292171
A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: new insights into the pathogenicity of nonfarnesylated prelamin-A.
Le Dour C, Schneebeli S, Bakiri F, Darcel F, Jacquemont ML, Maubert MA, Auclair M, Jeziorowska D, Reznik Y, Béréziat V, Capeau J, Lascols O, Vigouroux C. Le Dour C, et al. Among authors: darcel f. J Clin Endocrinol Metab. 2011 May;96(5):E856-62. doi: 10.1210/jc.2010-2234. Epub 2011 Feb 23. J Clin Endocrinol Metab. 2011. PMID: 21346069
Pulmonary alveolar proteinosis in children on La Réunion Island: a new inherited disorder?
Enaud L, Hadchouel A, Coulomb A, Berteloot L, Lacaille F, Boccon-Gibod L, Boulay V, Darcel F, Griese M, Linard M, Louha M, Renouil M, Rivière JP, Toupance B, Verkarre V, Delacourt C, de Blic J. Enaud L, et al. Among authors: darcel f. Orphanet J Rare Dis. 2014 Jun 14;9:85. doi: 10.1186/1750-1172-9-85. Orphanet J Rare Dis. 2014. PMID: 24927752 Free PMC article.
Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.
Moulard B, Genton P, Grid D, Jeanpierre M, Ouazzani R, Mrabet A, Morris M, LeGuern E, Dravet C, Mauguière F, Utermann B, Baldy-Moulinier M, Belaidi H, Bertran F, Biraben A, Ali Chérif A, Chkili T, Crespel A, Darcel F, Dulac O, Geny C, Humbert-Claude V, Kassiotis P, Buresi C, Malafosse A. Moulard B, et al. Among authors: darcel f. Hum Genet. 2002 Sep;111(3):255-62. doi: 10.1007/s00439-002-0755-x. Epub 2002 Jul 23. Hum Genet. 2002. PMID: 12215838
FOunder effect in patients with Unverricht-Lundborg disease on reunion island.
Moulard B, Darcel F, Mignard D, Jeanpierre M, Genton P, Cartault F, Yaouanq J, Roubertie A, Biraben A, Buresi C, Malafosse A. Moulard B, et al. Among authors: darcel f. Epilepsia. 2003 Oct;44(10):1357-60. doi: 10.1046/j.1528-1157.2003.03703.x. Epilepsia. 2003. PMID: 14510831 Free article.
47 results