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Page 1
Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia.
Dijk W, Di Filippo M, Kooijman S, van Eenige R, Rimbert A, Caillaud A, Thedrez A, Arnaud L, Pronk A, Garçon D, Sotin T, Lindenbaum P, Ozcariz Garcia E, Pais de Barros JP, Duvillard L, Si-Tayeb K, Amigo N, Le Questel JY, Rensen PCN, Le May C, Moulin P, Cariou B. Dijk W, et al. Among authors: lindenbaum p. Circulation. 2022 Sep 6;146(10):724-739. doi: 10.1161/CIRCULATIONAHA.121.057978. Epub 2022 Jul 28. Circulation. 2022. PMID: 35899625 Free PMC article.
Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.
Rimbert A, Vanhoye X, Coulibaly D, Marrec M, Pichelin M, Charrière S, Peretti N, Valéro R, Wargny M, Carrié A, Lindenbaum P, Deleuze JF, Genin E, Redon R, Rollat-Farnier PA, Goxe D, Degraef G, Marmontel O, Divry E, Bigot-Corbel E, Moulin P, Cariou B, Di Filippo M. Rimbert A, et al. Among authors: lindenbaum p. Arterioscler Thromb Vasc Biol. 2021 Jan;41(1):e63-e71. doi: 10.1161/ATVBAHA.120.315491. Epub 2020 Nov 19. Arterioscler Thromb Vasc Biol. 2021. PMID: 33207932 Free article.
Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome.
Portero V, Le Scouarnec S, Es-Salah-Lamoureux Z, Burel S, Gourraud JB, Bonnaud S, Lindenbaum P, Simonet F, Violleau J, Baron E, Moreau E, Scott C, Chatel S, Loussouarn G, O'Hara T, Mabo P, Dina C, Le Marec H, Schott JJ, Probst V, Baró I, Marionneau C, Charpentier F, Redon R. Portero V, et al. Among authors: lindenbaum p. J Am Heart Assoc. 2016 Jun 10;5(6):e003122. doi: 10.1161/JAHA.115.003122. J Am Heart Assoc. 2016. PMID: 27287695 Free PMC article.
Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm.
Bourcier R, Le Scouarnec S, Bonnaud S, Karakachoff M, Bourcereau E, Heurtebise-Chrétien S, Menguy C, Dina C, Simonet F, Moles A, Lenoble C, Lindenbaum P, Chatel S, Isidor B, Génin E, Deleuze JF, Schott JJ, Le Marec H; ICAN Study Group; Loirand G, Desal H, Redon R. Bourcier R, et al. Among authors: lindenbaum p. Am J Hum Genet. 2018 Jan 4;102(1):133-141. doi: 10.1016/j.ajhg.2017.12.006. Am J Hum Genet. 2018. PMID: 29304371 Free PMC article.
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.
Le Caignec C, Ory B, Lamoureux F, O'Donohue MF, Orgebin E, Lindenbaum P, Téletchéa S, Saby M, Hurst A, Nelson K, Gilbert SR, Wilnai Y, Zeitlin L, Segev E, Tesfaye R, Nizon M, Cogne B, Bezieau S, Geoffroy L, Hamel A, Mayrargue E, de Courtivron B, Decock-Giraudaud A, Charrier C, Pichon O, Retière C, Redon R, Pepler A, McWalter K, Da Costa L, Toutain A, Gleizes PE, Baud'huin M, Isidor B. Le Caignec C, et al. Among authors: lindenbaum p. Am J Hum Genet. 2019 Nov 7;105(5):1040-1047. doi: 10.1016/j.ajhg.2019.09.024. Epub 2019 Oct 17. Am J Hum Genet. 2019. PMID: 31630789 Free PMC article.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Küry S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denommé-Pichon AS, Cogné B, Kundishora AJ, Hao LT, Li H, Stevenson RE, Louie RJ, Deb W, Torti E, Vignard V, McWalter K, Raymond FL, Rajabi F, Ranza E, Grozeva D, Coury SA, Blanc X, Brischoux-Boucher E, Keren B, Õunap K, Reinson K, Ilves P, Wentzensen IM, Barr EE, Guihard SH, Charles P, Seaby EG, Monaghan KG, Rio M, van Bever Y, van Slegtenhorst M, Chung WK, Wilson A, Quinquis D, Bréhéret F, Retterer K, Lindenbaum P, Scalais E, Rhodes L, Stouffs K, Pereira EM, Berger SM, Milla SS, Jaykumar AB, Cobb MH, Panchagnula S, Duy PQ, Vincent M, Mercier S, Gilbert-Dussardier B, Le Guillou X, Audebert-Bellanger S, Odent S, Schmitt S, Boisseau P, Bonneau D, Toutain A, Colin E, Pasquier L, Redon R, Bouman A, Rosenfeld JA, Friez MJ, Pérez-Peña H, Akhtar Rizvi SR, Haider S, Antonarakis SE, Schwartz CE, Martínez F, Bézieau S, Kahle KT, Isidor B. Küry S, et al. Among authors: lindenbaum p. Genet Med. 2022 Sep;24(9):1941-1951. doi: 10.1016/j.gim.2022.05.009. Epub 2022 Jun 9. Genet Med. 2022. PMID: 35678782 Free article.
Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I.
Daumy X, Amarouch MY, Lindenbaum P, Bonnaud S, Charpentier E, Bianchi B, Nafzger S, Baron E, Fouchard S, Thollet A, Kyndt F, Barc J, Le Scouarnec S, Makita N, Le Marec H, Dina C, Gourraud JB, Probst V, Abriel H, Redon R, Schott JJ. Daumy X, et al. Among authors: lindenbaum p. Int J Cardiol. 2016 Mar 15;207:349-58. doi: 10.1016/j.ijcard.2016.01.052. Epub 2016 Jan 11. Int J Cardiol. 2016. PMID: 26820365
Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster.
Le Caignec C, Pichon O, Briand A, de Courtivron B, Bonnard C, Lindenbaum P, Redon R, Schluth-Bolard C, Diguet F, Rollat-Farnier PA, Sanchez-Castro M, Vuillaume ML, Sanlaville D, Duboule D, Mégarbané A, Toutain A. Le Caignec C, et al. Among authors: lindenbaum p. Eur J Hum Genet. 2020 Mar;28(3):324-332. doi: 10.1038/s41431-019-0522-2. Epub 2019 Oct 7. Eur J Hum Genet. 2020. PMID: 31591517 Free PMC article.
Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line.
Geryk M, Canac R, Forest V, Lindenbaum P, Girardeau A, Baudic M, Baron E, Bibonne A, Chariau C, Kyndt F, Redon R, Schott JJ, Gourraud JB, Barc J, Charpentier F. Geryk M, et al. Among authors: lindenbaum p. Stem Cell Res. 2024 Mar 21;77:103396. doi: 10.1016/j.scr.2024.103396. Online ahead of print. Stem Cell Res. 2024. PMID: 38522388 Free article.
64 results