Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia

Authors: Di Filippo, Mathilde, Collardeau Frachon, Sophie, Janin, Alexandre, Rajan, Sujith, Marmontel, Oriane, Decourt, Charlotte, Rubio, Amandine, Nony, Séverine, Dumont, Sabrina, Cuerq, Charlotte, Charrière, Sybil, Moulin, Philippe, Lachaux, Alain, Hussain, M. Mahmood, Bozon, Dominique, Peretti, Noël

Source: In Atherosclerosis May 2019 284:75-82

Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization

Authors: Jourdy, Yohann, Janin, Alexandre, Fretigny, Mathilde, Lienhart, Anne, Négrier, Claude, Bozon, Dominique, Vinciguerra, Christine

Source: In The American Journal of Human Genetics 1 February 2018 102(2):199-206

Splicing analysis of 26 F8 nucleotide variations using a minigene assay

Authors: Jourdy, Yohann, Fretigny, Mathilde, Nougier, Christophe, Négrier, Claude, Bozon, Dominique, Vinciguerra, Christine

Source: Haemophilia. 25(2):306-315

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100103218903.0x000001&indx=1&recIds=ETOCvdc_100103218903.0x000001

Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France

Authors: Wintjens, René ^*, Bozon, Dominique ^†, Belabbas, Khaldia ^§, MBou, Félicien ^‡, Girardet, Jean-Philippe ^‖, Tounian, Patrick ^‖, Jolly, Mathilde ^#, Boccara, Franck ^$, Cohen, Ariel ^$, Karsenty, Alexandra ^‖, Dubern, Béatrice ^‖, Carel, Jean-Claude ^{**, ††}, Azar-Kolakez, Ahlam ^{**, ††}, Feillet, François ^{§§, ‡‡}, Labarthe, François ^‖‖, Gorsky, Anne-Marie Colin ^##, Horovitz, Alice ^$$, Tamarindi, Catherine ^***, Kieffer, Pierre ^†††, Lienhardt, Anne ^§§§, Lascols, Olivier ^§, Di Filippo, Mathilde ^{†, ‡‡‡}, Dufernez, Fabienne ^§

Source: In Journal of Lipid Research March 2016 57(3):482-491

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia

Authors: Di Filippo, Mathilde ^{1, *, †}, Créhalet, Hervé ^*, Samson-Bouma, Marie Elisabeth ^§, Bonnet, Véronique ^*, Aggerbeck, Lawrence P. ^**, Rabès, Jean-Pierre ^{§, ††, §§}, Gottrand, Frederic ^***, Luc, Gérald ^†††, Bozon, Dominique ^*, Sassolas, Agnès ^{*, †}

Source: In Journal of Lipid Research March 2012 53(3):548-555

Identification of Mutations in Regions Corresponding to the Two Putative Nucleotide (ATP)-Binding Folds of the Cystic Fibrosis Gene

Authors: Kerem, Bat-sheva, Zielenski, Julian, Markiewicz, Danuta, Bozon, Dominique, Gazit, Ephraim, Yahav, Jacob, Kennedy, Dara, Riordan, John R., Collins, Francis S., Rommens, Johanna M., Tsui, Lap-Chee

Source: Proceedings of the National Academy of Sciences of the United States of America, 1990 Nov 01. 87(21), 8447-8451.

Access URL: https://www.jstor.org/stable/2355558

Creatine kinase isoenzymes specificities: histidine 65 in human CK-BB, a role in protein stability, not in catalysis

Authors: Mourad-Terzian, Tamara, Steghens, Jean-Paul ^*, Min, Kyung-Lyum, Collombel, Christian, Bozon, Dominique

Source: In FEBS Letters 2000 475(1):22-26

The 2.1-, 5.4- and 5.7-kb transcripts of the IDS gene are generated by different polyadenylation signals

Authors: Cudry, Stéphane ^*, Froissart, Roseline, Bouton, Olivier, Maire, Irène, Bozon, Dominique

Source: In BBA - Gene Structure and Expression 1999 1447(1):35-42

Genetic determination of exocrine pancreatic function in cystic fibrosis.

Authors: Kristidis, Peter, Bozon, Dominique, Corey, Mary

Source: American Journal of Human Genetics; June 1992, Vol. 50, p1178-1184, 7p

POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome

Authors: Mousson de Camaret, Bénédicte, Chassagne, Maïté, Mayençon, Martine, Padet, Sylvie, Crehalet, Hervé, Clerc-Renaud, Pascale, Rouvet, Isabelle, Zabot, Marie-Thérèse, Rivier, François, Sarda, Pierre, des Portes, Vincent, Bozon, Dominique

Source: In Mitochondrion 2011 11(1):223-227

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Combined use of in silico and in vitro splicing assays for interpretation of genomic variants of unknown significance in cardiomyopathies and channelopathies.

Authors: Crehalet, Hervé, Millat, Gilles, Albuisson, Juliette, Bonnet, Véronique, Rouvet, Isabelle, Rousson, Robert, Bozon, Dominique

Source: Cardiogenetics; 2012, Vol. 2 Issue 1, p26-31, 6p

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MPS II in females: molecular basis of two different cases.

Authors: CUDRY, STÉPHANE, TIGAUD, ISABELLE, FROISSART, ROSELINE, BONNET, VÉRONIQUE, MAIRE, IRÈNE, BOZON, DOMINIQUE

Source: Journal of Medical Genetics; Oct2000, p1-4, 4p