Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease) by Georges, Amandine, Bonneau, Jessica, Bonnefont-Rousselot, Dominique, Champigneulle, Jacqueline, Rabès, Jean P, Abifadel, Marianne, Aparicio, Thomas, Guenedet, Jean C, Bruckert, Eric, Boileau, Catherine, Morali, Alain, Varret, Mathilde, Aggerbeck, Lawrence P, Samson-Bouma, Marie E

Get full text

Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease by Germain, Dominique P., Levade, Thierry, Hachulla, Eric, Knebelmann, Bertrand, Lacombe, Didier, Seguin, Vanessa Leguy, Nguyen, Karine, Noël, Esther, Rabès, Jean‐Pierre

Get full text

High burden of recurrent cardiovascular events in heterozygous familial hypercholesterolemia: The French Familial Hypercholesterolemia Registry by Béliard, Sophie, Boccara, Franck, Cariou, Bertrand, Carrié, Alain, Collet, Xavier, Farnier, Michel, Ferrières, Jean, Krempf, Michael, Peretti, Noël, Rabès, Jean-Pierre, Varret, Mathilde, Vimont, Alexandre, Charrière, Sybil, Bruckert, Eric, Angoulvant, D., Béliard, S., Benlian, P., Boileau, C., Boccara, F., Bruckert, E., Cariou, B., Carreau, V., Carrié, A., Charrière, S., Di Filippo, M., Ducluzeau, P.H., Dulong, S., Durlach, V., Farnier, M., Ferrari, E., Ferrières, J., Gallo, A., Girardet, J.P., Hankard, R., Krempf, M., Lalau, J.D., Lefort, B., Lemale, J., Moulin, P., Paillard, F., Peretti, N., Pradignac, A., Pucheu, Y., Rabès, J.P., Saheb, S., Sultan, A., Tounian, P., Valéro, R., Varret, M., Vergès, B., Yelnik, C., Ziegler, O.

Get full text

Featured Cover by Germain, Dominique P., Levade, Thierry, Hachulla, Eric, Knebelmann, Bertrand, Lacombe, Didier, Seguin, Vanessa Leguy, Nguyen, Karine, Noël, Esther, Rabès, Jean‐Pierre

Get full text

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia by Di Filippo, Mathilde, Créhalet, Hervé, Samson-Bouma, Marie Elisabeth, Bonnet, Véronique, Aggerbeck, Lawrence P., Rabès, Jean-Pierre, Gottrand, Frederic, Luc, Gérald, Bozon, Dominique, Sassolas, Agnès

Get full text

Interpreting the pathogenicity of genetic variants in rare diseases: Lessons from Fabry disease by Germain, Dominique P., Levade, Thierry, Hachulla, Eric, Knebelmann, Bertrand, Lacombe, Didier, Rabès, Jean-Pierre

Get full text

The singular French PCSK9-p.Ser127Arg gain-of-function variant: a significant player in cholesterol levels from a 775-year-old common ancestor by Azar, Yara, Ludwig, Thomas E., Le Bon, Hugo, Strøm, Thea Bismo, Bluteau, Olivier, Di-Filippo, Mathilde, Carrié, Alain, Chtioui, Hedi, Béliard, Sophie, Marmontel, Oriane, Fonteille, Annie, Gebhart, Maite, Peretti, Noël, Moulin, Philippe, Ferrières, Jean, Pradignac, Alain, Farnier, Michel, Gallo, Antonio, Yelnik, Cécile, Blom, Dirk, Génin, Emmanuelle, Bogsrud, Martin Prøven, Leren, Trond P., Boileau, Catherine, Abifadel, Marianne, Rabès, Jean-Pierre, Varret, Mathilde

Get full text

Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families by Di Filippo, Mathilde, Varret, Mathilde, Boehm, Vanessa, Rabès, Jean-Pierre, Ferkdadji, Latifa, Abramowitz, Laurent, Dumont, Sabrina, Lenaerts, Catherine, Boileau, Catherine, Joly, Francisca, Schmitz, Jacques, Samson-Bouma, Marie-Elisabeth, Bonnefont-Rousselot, Dominique

Get full text

High burden of recurrent cardiovascular events in heterozygous familial hypercholesterolemia: The French Familial Hypercholesterolemia Registry by Béliard, Sophie, Boccara, Franck, Cariou, Bertrand, Carrié, Alain, Collet, Xavier, Farnier, Michel, Ferrières, Jean, Krempf, Michael, Peretti, Noël, Rabès, Jean-Pierre, Varret, Mathilde, Vimont, Alexandre, Charrière, Sybil, Bruckert, Eric, Angoulvant, D., Béliard, S., Benlian, P., Boileau, C., Boccara, F., Bruckert, E., Cariou, B., Carreau, V., Carrié, A., Charrière, S., Di Filippo, M., Ducluzeau, P.H., Dulong, S., Durlach, V., Farnier, M., Ferrari, E., Ferrières, J., Gallo, A., Girardet, J.P., Hankard, R., Krempf, M., Lalau, J.D., Lefort, B., Lemale, J., Moulin, P., Paillard, F., Peretti, N., Pradignac, A., Pucheu, Y., Rabès, J.P., Saheb, S., Sultan, A., Tounian, P., Valéro, R., Varret, M., Vergès, B., Yelnik, C., Ziegler, O.

Get full text

A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1-p32 by Varret, Mathilde, Rabès, Jean-Pierre, Saint-Jore, Bruno, Cenarro, Ana, Marinoni, Jean-Christophe, Civeira, Fernando, Devillers, Martine, Krempf, Michel, Coulon, Monique, Thiart, Rochelle, Kotze, Maritha J., Schmidt, Helena, Buzzi, Jean-Claude, Kostner, Gert M., Bertolini, Stephano, Pocovi, Miguel, Rosa, Alberto, Farnier, Michel, Martinez, Maria, Junien, Claudine, Boileau, Catherine

Get full text

Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia by AMSELLEM, Sabine, BRIFFAUT, Dorothée, DE GENNES, Jean Luc, BRUKERT, Eric, BENLIAN, Pascale, CARRIE, Alain, RABES, Jean Pierre, GIRARDET, Jean Philippe, FREDENRICH, Alexandre, MOULIN, Philippe, KREMPF, Michel, REZNIK, Yves, VIALETTES, Bernard

Get full text

The UMD‐LDLR database: additions to the software and 490 new entries to the database by Villéger, Ludovic, Abifadel, Marianne, Allard, Delphine, Rabès, Jean‐Pierre, Thiart, Rochelle, Kotze, Maritha J., Béroud, Christophe, Junien, Claudine, Boileau, Catherine, Varret, Mathilde

Get full text

Allergic Rhinitis and its Impact on Asthma (ARIA) guidelines: 2010 Revision by Brożek, Jan L., MD, PhD, Bousquet, Jean, MD, PhD, Baena-Cagnani, Carlos E., MD, Bonini, Sergio, MD, Canonica, G. Walter, MD, Casale, Thomas B., MD, van Wijk, Roy Gerth, MD, PhD, Ohta, Ken, MD, PhD, Zuberbier, Torsten, MD, Schünemann, Holger J., MD, PhD, MSc

Get full text

The Diversity of Meningococcal Carriage Across the African Meningitis Belt and the Impact of Vaccination With a Group A Meningococcal Conjugate Vaccine by Consortium, Menafricar, Collard, Jean-Marc

Get full text

Intranasal corticosteroids in allergic rhinitis in COVID‐19 infected patients: An ARIA‐EAACI statement by Jutel, Marek, Bachert, Claus, Ansotegui, Ignacio J., Bedbrook, Anna, Chivato, Tomas, Czarlewski, Wienczyslawa, Larenas‐Linnemann, Desiree, Naclerio, Robert, Okamoto, Yoshitaka, Samolinski, Boleslaw, Schwarze, Jürgen, Toppila‐Salmi, Sanna, Zuberbier, Torsten, Mona, Al‐Ahmad, Hasan, Arshad, Cristina, Barbara, Eric, Bateman, Bianca, Beghe, Larl‐Christian, Bergmann, Leif, Bjermer, Attilio, Boner, Jacques, Bouchard, Fulvio, Braido, Silvia, Caimmi, Paulo, Camargos, Walter, Canonica, Warner, Carr, Thomas, Casale, Lorenzo, Cecchi, Alfonso, Cepeda Mario, George, Christoff, Derek, Chu, André, Coste, Ulf, Darsow, Frédéric, De Blay, Diana, Deleanu, Alain, Didier, Ruta, Dubakiene, Patrik, Eklund, Yehia, El‐Gamal, Bieren Julia, Esser‐von, Wytske, Fokkens, Sonya, Genova, José, Gereda, Elham, Hossny, Martin, Hrubiško, Yunuen, Huerta Villalobos, Carla, Irani, Zhanat, Ispayeva, Erika, Jensen‐Jarolim, Sebastian, Johnston, Omer, Kalayci, Fuat, Kalyoncu, Jussi, Karjalainen, Gerard, Koppelman, Violeta, Kvedariene, Jing, Li, Hans‐Jorgen, Malling, Gailen, Marshall, Pedro, Martins, Cem, Meço, Jean‐Pierre, Michel, Yousser, Mohammad, Mathieu, Molimard, Mario, Morais‐Almeida, Antonella, Muraro, Tihomir, Mustakov, Leyla, Namazova‐Baranova, Laurent, Nicod, Robyn, O’Hehir, Brian, Oliver, Nilos, Papadopoulos, Bernard, Pigearias, Constantinos, Pitsios, Wolfgang, Pohl, Fabienne, Portejoie, Paul, Potter, Claus, Rabe, Stella, Recto Marysia, José Angelo, Rizzo, Antonino, Romano, Philip, Rouadi, Dermot, Ryan, Mario, Sanchez‐Borges, Glenis, Scadding, Juan‐Carlos, Sisul, Dirceu, Solé, Talant, Sooronbaev, Manuel, Soto‐Martinez, Cristiana, Stellato, Carel, Thijs, Ioana, Tsiligianni, Marilyn, Urrutia Pereira, Eric, Van Ganse, Dana, Wallace, Yun, Wang de, Dennis, Williams, Arzu, Yorgancioglu, Osman, Yusuf, Mario, Zernotti

Request full text

Peanut‐induced anaphylaxis in children and adolescents: Data from the European Anaphylaxis Registry by Maris, Ioana, Lange, Lars, Koehli, Alice, Spindler, Thomas, Hourihane, Jonathan, Scherer, Kathrin, Nemat, Katja, Kemen, C., Neustädter, Irena, Vogelberg, Christian, Reese, Thomas, Yildiz, Ismail, Ott, Hagen, Straube, Helen, Papadopoulos, Nikolaos G., Mustakov, Tihomir, Cocco, Renata, Fernandez‐Rivas, Montserrat, Worm, Margitta, Grünhagen, J, Wittenberg, M, Beyer, K, Henschel, A, Küper, S, Möser, A, Fuchs, T, Ruëff, F, Wedi, B, Buck, T, Dickel, H, Körner‐Rettberg, C, Merk, H, Lehmann, S, Bauer, A, Nordwig, A, Zeil, S, Hannapp, C, Hunzelmann, N, Huseynow, I, Treudler, R, Aurich, S, Prenzel, F, Klimek, L, Reider, N, Aberer, W, Bogatu, B, Schmid‐Grendelmeier, P, Riffelmann, F, Kreft, B, Hartl, L, Ebner, C, Brehler, R, Witte, J, Buss, M, Bücheler, M, Brosi, W, Nestoris, S, Hawranek, T, Pföhler, C, Eng, P, Schweitzer‐Krantz, S, Rebmann, H, Fischer, J, Stichtenoth, G, Gerstlauer, M, Klinge, J, Plank‐Habibi, S, Schäkel, K, Manolaraki, I, Kowalski, M, Solarewicz‐Madajek, K, Tscheiller, S, Seidenberg, J, Cardona, V, Garcia, B, Bilo, M, Cabañes Higuero, N, Poziomkowska‐Gęsicka, I, Büsing, S, Virchow, C, Christoff, G, Jappe, U, Müller, S, Correard, A‐K, Rogala, B, Montoro, A, Muraro, A, Minale, P, Niederwimmer, J, Zahel, B, Arasi, S, Reissig, A, Eitelberger, F, Hermann, F, Zeidler, S, Pistauer, S, Geißler, M, Plaza Martin, A, Meister, J, Stieglitz, S

Get full text

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia: Functional analysis of two new MTTP mutations by Di Filippo, Mathilde, Créhalet, Hervé, Samson-Bouma, Marie Elisabeth, Bonnet, Véronique, Aggerbeck, Lawrence P., Rabès, Jean-Pierre, Gottrand, Frederic, Luc, Gérald, Bozon, Dominique, Sassolas, Agnès

Get full text

Unmet needs in severe chronic upper airway disease (SCUAD) by Bousquet, Jean, MD, Bachert, Claus, MD, Canonica, Giorgio W., MD, Casale, Thomas B., MD, Cruz, Alvaro A., MD, Lockey, Richard J., MD, Zuberbier, Torsten, MD

Get full text

A Randomized, Double-blind, Placebo-controlled Study of Tumor Necrosis Factor-α Blockade in Severe Persistent Asthma by WENZEL, Sally E, BARNES, Peter J, BAKER, James, HORVATH, Ildiko, MARK, Zsuzsanna, BERNSTEIN, David, KERWIN, Edward, SCHLENKER-HERCEG, Rozsa, KIM HUNG LO, WATT, Rosemary, BARNATHAN, Elliot S, CHANEZ, Pascal, BLEECKER, Eugene R, BOUSQUET, Jean, BUSSE, William, DAHLEN, Sven-Erik, HOLGATE, Stephen T, MEYERS, Deborah A, RABE, Klaus F, ANTCZAK, Adam

Get full text

Software and database for the analysis of mutations in the human LDL receptor gene by Varret, M, Rabes, J.P, Collod-Beroud, G, Junien, C, Boileau, C, Beroud, C

Get full text