Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
Besnard, Thomas, Sloboda, Natacha, Goldenberg, Alice, Küry, Sébastien, Cogné, Benjamin, Breheret, Flora, Trochu, Eva, Conrad, Solène, Vincent, Marie, Deb, Wallid, Balguerie, Xavier, Barbarot, Sébastien, Baujat, Geneviève, Ben-Omran, Tawfeg, Bursztejn, Anne-Claire, Carmignac, Virginie, Datta, Alexandre N., Delignières, Aline, Faivre, Laurence, Gardie, Betty, Guéant, Jean-Louis, Kuentz, Paul, Lenglet, Marion, Nassogne, Marie-Cécile, Ramaekers, Vincent, Schnur, Rhonda E., Si, Yue, Torti, Erin, Thevenon, Julien, Vabres, Pierre, Van Maldergem, Lionel, Wand, Dorothea, Wiedemann, Arnaud, Cariou, Bertrand, Redon, Richard, Lamazière, Antonin, Bézieau, Stéphane, Feillet, Francois, Isidor, Bertrand
Published in Genetics in medicine (01.09.2019)
Published in Genetics in medicine (01.09.2019)
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Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain
Boughalem, Aïcha, Ciorna-Monferrato, Viorica, Sloboda, Natacha, Guegan, Amélie, Page, François, Zimmer, Sophie, Benazra, Marion, Kleinfinger, Pascale, Lohmann, Laurence, Valduga, Mylène, Receveur, Aline, Martin, Fernando, Trost, Detlef
Published in Frontiers in genetics (02.08.2024)
Published in Frontiers in genetics (02.08.2024)
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Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity
Sloboda, Natacha, Sorlin, Arthur, Valduga, Mylène, Beri-Dexheimer, Mylène, Bilbault, Claire, Fouyssac, Fanny, Becker, Aurélie, Lambert, Laëtitia, Bonnet, Céline, Leheup, Bruno
Published in Frontiers in immunology (16.08.2019)
Published in Frontiers in immunology (16.08.2019)
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Atypical phenotype of a patient with Bardet–Biedl syndrome type 4
Sloboda, Natacha, Lambert, Laetitia, Ciorna, Viorica, Bruel, Ange‐Line, Tran Mau‐Them, Frédéric, Gomola, Vladimir, Lemelle, Jean‐Louis, Klein, Olivier, Camoin‐Schweitzer, Marie‐Christine, Magnavacca, Marie, Legagneur, Carole, Ezsto, Marie‐Laure, Bonnet, Céline, Philippe, Christophe, Leheup, Bruno
Published in Molecular genetics & genomic medicine (01.05.2022)
Published in Molecular genetics & genomic medicine (01.05.2022)
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Efficacy of low dose nitisinone in the management of alkaptonuria
Sloboda, Natacha, Wiedemann, Arnaud, Merten, Marc, Alqahtani, Amerh, Jeannesson, Elise, Blum, Alain, Henn-Ménétré, Sophie, Guéant, Jean-Louis, Renard, Emeline, Feillet, François
Published in Molecular genetics and metabolism (01.07.2019)
Published in Molecular genetics and metabolism (01.07.2019)
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MAST1-related mega-corpus-callosum syndrome with central hypogonadism
Sloboda, Natacha, Renard, Emeline, Lambert, Laetitia, Bonnet, Céline, Leheup, Bruno, Todosi, Calina, Schmitt, Emmanuelle, Feillet, François, Feigerlova, Eva, Piton, Amélie, Journeau, Pierre, Klein, Marc, Maillard, Louis, Chelly, Jamel, Renaud, Mathilde
Published in European journal of medical genetics (01.11.2023)
Published in European journal of medical genetics (01.11.2023)
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Potassium Channel Openers Increase Aortic Elastic Fiber Formation and Reverse the Genetically Determined Elastin Deficit in the BN Rat
SLOVE, Séverin, LANNOY, Morgane, BEHMOARAS, Jacques, PEZET, Mylène, SLOBODA, Natacha, LACOLLEY, Patrick, ESCOUBET, Brigitte, BUJAN, Julia, JACOB, Marie-Paule
Published in Hypertension (Dallas, Tex. 1979) (01.10.2013)
Published in Hypertension (Dallas, Tex. 1979) (01.10.2013)
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Fatty acids impair endothelium-dependent vasorelaxation: a link between obesity and arterial stiffness in very old Zucker rats
Sloboda, Natacha, Fève, Bruno, Thornton, Simon N, Nzietchueng, Rosine, Regnault, Véronique, Simon, Ginny, Labat, Carlos, Louis, Huguette, Max, Jean-Pierre, Muscat, Adeline, Osborne-Pellegrin, Mary, Lacolley, Patrick, Benetos, Athanase
Published in The journals of gerontology. Series A, Biological sciences and medical sciences (01.09.2012)
Published in The journals of gerontology. Series A, Biological sciences and medical sciences (01.09.2012)
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