New clinical forms of hereditary apoA-I amyloidosis entail both glomerular and retinal amyloidosis
Colombat, Magali, Aldigier, Jean-Claude, Rothschild, Pierre-Raphael, Javaugue, Vincent, Desport, Estelle, Frouget, Thierry, Goujon, Jean-Michel, Rioux-Leclercq, Nathalie, Quellard, Nathalie, Rerolle, Jean Philippe, Paraf, François, Beugnet, Caroline, Tiple, Aurélien, Durrbach, Antoine, Samuel, Didier, Brézin, Antoine, Bridoux, Frank, Valleix, Sophie
Published in Kidney international (01.07.2020)
Published in Kidney international (01.07.2020)
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Journal Article
Vitreous amyloidosis with autonomic neuropathy of the digestive tract associated with a novel transthyretin p.Gly87Arg variant in a Bangladeshi patient: a case report
Terrier, Benjamin, Colombat, Magali, Beugnet, Caroline, Quéant, Astrid, London, Jonathan, Daudin, Jean-Baptiste, Le Jeunne, Claire, Mouthon, Luc, Monnet, Dominique, Cauquil, Cécile, Lacroix, Catherine, Adams, David, Brézin, Antoine, Valleix, Sophie
Published in Journal of medical case reports (13.08.2017)
Published in Journal of medical case reports (13.08.2017)
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Journal Article
Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype
DARUICH, ALEJANDRA, ROBERT, MATTHIEU P., LEROY, CAMILLE, DE VERGNES, NATHALIE, BEUGNET, CAROLINE, MALAN, VALERIE, VALLEIX, SOPHIE, BREMOND-GIGNAC, DOMINIQUE
Published in American journal of ophthalmology (01.05.2022)
Published in American journal of ophthalmology (01.05.2022)
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Journal Article
When a mid-intronic variation of DMD gene creates an ESE site
Trabelsi, Madiha, Beugnet, Caroline, Deburgrave, Nathalie, Commere, Virgine, Orhant, Lucie, Leturcq, France, Chelly, Jamel
Published in Neuromuscular disorders : NMD (01.12.2014)
Published in Neuromuscular disorders : NMD (01.12.2014)
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Journal Article
VLITL is a major cross-β-sheet signal for fibrinogen Aα-chain frameshift variants
Garnier, Cyrille, Briki, Fatma, Nedelec, Brigitte, Le Pogamp, Patrick, Dogan, Ahmet, Rioux-Leclercq, Nathalie, Goude, Renan, Beugnet, Caroline, Martin, Laurent, Delpech, Marc, Bridoux, Frank, Grateau, Gilles, Doucet, Jean, Derreumaux, Philippe, Valleix, Sophie
Published in Blood (21.12.2017)
Published in Blood (21.12.2017)
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Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia
Orhant, Lucie, Anselem, Olivia, Fradin, Mélanie, Becker, Pierre Hadrien, Beugnet, Caroline, Deburgrave, Nathalie, Tafuri, Gilles, Letourneur, Franck, Goffinet, François, Allach El Khattabi, Laïla, Leturcq, France, Bienvenu, Thierry, Tsatsaris, Vassilis, Nectoux, Juliette
Published in Prenatal diagnosis (01.05.2016)
Published in Prenatal diagnosis (01.05.2016)
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Journal Article
Revised spectrum of mutations in sarcoglycanopathies
TRABELSI, Madiha, KAVIAN, Niloufar, LETURCQ, France, CHELLY, Jamel, DAOUD, Fatma, COMMERE, Virginie, DEBURGRAVE, Nathalie, BEUGNET, Caroline, LLENSE, Stephane, BARBOT, Jean Claude, VASSON, Aurélie, KAPLAN, Jean Claude
Published in European journal of human genetics : EJHG (01.07.2008)
Published in European journal of human genetics : EJHG (01.07.2008)
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Journal Article
Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia: Non-invasive prenatal diagnosis of achondroplasia by ddPCR and minisequencing
Orhant, Lucie, Anselem, Olivia, Fradin, Mélanie, Becker, Pierre Hadrien, Beugnet, Caroline, Deburgrave, Nathalie, Tafuri, Gilles, Letourneur, Franck, Goffinet, François, Allach El Khattabi, Laïla, Leturcq, France, Bienvenu, Thierry, Tsatsaris, Vassilis, Nectoux, Juliette
Published in Prenatal diagnosis (01.05.2016)
Published in Prenatal diagnosis (01.05.2016)
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Journal Article
Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method
Saillour, Yoann, Cossée, Mireille, Leturcq, France, Vasson, Aurélie, Beugnet, Caroline, Poirier, Karine, Commere, Virginie, Sublemontier, Sébastien, Viel, Marion, Letourneur, Franck, Barbot, Jean Claude, Deburgrave, Nathalie, Chelly, Jamel, Bienvenu, Thierry
Published in Human mutation (01.09.2008)
Published in Human mutation (01.09.2008)
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Journal Article
Molecular basis for a novel systemic form of human hereditary apoA-I amyloidosis with vision loss
Morgado, Isabel, Pierre-Raphael Rothschild, Panahi, Afra, Aldigier, Jean-Claude, Burwash, Andrew G, Das, Madhurina, Colombat, Magali, Frouget, Thierry, Jean-Philippe Rerolle, Fran ois Paraf, Rioux-Leclercq, Nathalie, Jean-Michel Goujon, Beugnet, Caroline, Durrbach, Antoine, Didier, Samuel, Brezin, Antoine, Straub, John E, Gursky, Olga, Valleix, Sophie
Published in bioRxiv (22.06.2018)
Published in bioRxiv (22.06.2018)
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