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Combined pulmonary fibrosis and emphysema in alpha-1-antitrypsin deficiency
Combined pulmonary fibrosis and emphysema in alpha-1-antitrypsin deficiency
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Combined pulmonary fibrosis and emphysema in alpha-1-antitrypsin deficiency

Le Beller, A. ; Nasser, M. ; Traclet, J. ; Blanchet-Legens, A.-S. ; Kannengiesser, C. ; Mornex, J.-F. ; Cottin, V.

Respiratory medicine and research, 2021-05, Vol.79, p.100819-100819, Article 100819 [Periódico revisado por pares]

France: Elsevier Masson SAS

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2
Vitamin D deficiency, vitamin D receptor gene polymorphisms and cardiovascular risk factors in Caribbean patients with type 2 diabetes
Vitamin D deficiency, vitamin D receptor gene polymorphisms and cardiovascular risk factors in Caribbean patients with type 2 diabetes
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Vitamin D deficiency, vitamin D receptor gene polymorphisms and cardiovascular risk factors in Caribbean patients with type 2 diabetes

Vélayoudom-Céphise, F.-L ; Larifla, L ; Donnet, J.-P ; Maimaitiming, S ; Deloumeaux, J ; Blanchet, A ; Massart, C ; Munoz-Bellili, N ; Merle, S ; Chout, R ; Bonnet, F ; Foucan, L

Diabetes & metabolism, 2011-12, Vol.37 (6), p.540-545 [Periódico revisado por pares]

Paris: Elsevier Masson SAS

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3
Vascular and blood-brain barrier-related changes underlie stress responses and resilience in female mice and depression in human tissue
Vascular and blood-brain barrier-related changes underlie stress responses and resilience in female mice and depression in human tissue
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Vascular and blood-brain barrier-related changes underlie stress responses and resilience in female mice and depression in human tissue

Dion-Albert, Laurence ; Cadoret, Alice ; Doney, Ellen ; Kaufmann, Fernanda Neutzling ; Dudek, Katarzyna A ; Daigle, Beatrice ; Parise, Lyonna F ; Cathomas, Flurin ; Samba, Nalia ; Hudson, Natalie ; Lebel, Manon ; Campbell, Matthew ; Turecki, Gustavo ; Mechawar, Naguib ; Menard, Caroline

Nature communications, 2022-01, Vol.13 (1), p.164-164, Article 164 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Radionuclide Angiographic Assessment of Right Ventricular Ejection Fraction Is Pronostic in Pulmonary Arterial Hypertension
Radionuclide Angiographic Assessment of Right Ventricular Ejection Fraction Is Pronostic in Pulmonary Arterial Hypertension
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Radionuclide Angiographic Assessment of Right Ventricular Ejection Fraction Is Pronostic in Pulmonary Arterial Hypertension

Courand, P.-Y ; Cottin, V ; Pina-Jomir, G ; Bertocchi, M ; Khouatra, C ; Traclet, J ; Blanchet, A.-S ; Dib, A ; Turquier, S ; Glérant, J.-C ; Dérumeaux, G ; Humbert, M ; Simonneau, G ; Mornex, J.-F ; Scheiber, C ; Cordier, J.-F

The Journal of heart and lung transplantation, 2013-04, Vol.32 (4), p.S105-S105 [Periódico revisado por pares]

Elsevier Inc

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5
Eosinophilic granulomatosis with polyangiitis (Churg‐Strauss): Clinical characteristics and long‐term followup of the 383 patients enrolled in the French Vasculitis Study Group cohort
Eosinophilic granulomatosis with polyangiitis (Churg‐Strauss): Clinical characteristics and long‐term followup of the 383 patients enrolled in the French Vasculitis Study Group cohort
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Eosinophilic granulomatosis with polyangiitis (Churg‐Strauss): Clinical characteristics and long‐term followup of the 383 patients enrolled in the French Vasculitis Study Group cohort

Comarmond, Cloé ; Pagnoux, Christian ; Khellaf, Mehdi ; Cordier, Jean‐François ; Hamidou, Mohamed ; Viallard, Jean‐François ; Maurier, François ; Jouneau, Stéphane ; Bienvenu, Boris ; Puéchal, Xavier ; Aumaître, Olivier ; Guenno, Guillaume Le ; Quellec, Alain Le ; Cevallos, Ramiro ; Fain, Olivier ; Godeau, Bertrand ; Seror, Raphaèle ; Dunogué, Bertrand ; Mahr, Alfred ; Guilpain, Philippe ; Cohen, Pascal ; Aouba, Achille ; Mouthon, Luc ; Guillevin, Loïc

Arthritis and rheumatism, 2013-01, Vol.65 (1), p.270-281 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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6
Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice
Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice
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Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Jønch, Aia Elise ; Douard, Elise ; Moreau, Clara ; Van Dijck, Anke ; Passeggeri, Marzia ; Kooy, Frank ; Puechberty, Jacques ; Campbell, Carolyn ; Sanlaville, Damien ; Lefroy, Henrietta ; Richetin, Sonia ; Pain, Aurelie ; Geneviève, David ; Kini, Usha ; Le Caignec, Cédric ; Lespinasse, James ; Skytte, Anne-Bine ; Isidor, Bertrand ; Zweier, Christiane ; Caberg, Jean-Hubert ; Delrue, Marie-Ange ; Møller, Rikke Steensbjerre ; Bojesen, Anders ; Hjalgrim, Helle ; Brasch-Andersen, Charlotte ; Lemyre, Emmanuelle ; Ousager, Lilian Bomme ; Jacquemont, Sébastien ; Andrieux, Joris ; Barnicoat, Angela ; Blanchet, Patricia ; Blesson, Sophie ; Bütschi, Florence Niel ; Campeau, Philippe M ; Chelloug, Nora ; Debray, François-Guillaume ; Fellmann, Florence ; Ferrarini, Alessandra ; Gibbons, Richard ; Gregersen, Pernille Axel ; Hoyer, Juliane ; Hüffmeier, Ulrike ; Kjelgaard, Ditte ; Krumbiegel, Mandy ; Lebon, Sébastien ; Lesca, Gaetan ; Marignier, Stéphanie ; Mercier, Sandra ; Michaud, Jacques ; Mitchell, Grant ; Mortemousque, Isabelle ; Møller, Rikke S ; Nizon, Mathilde ; Pierquin, Genevieve ; Sørensen, Kristina Pilekær ; Price, Sue ; Pujol, Pascal H ; Ramaekers, Vincent ; Raynaud, Martine ; Reis, André ; Rossi, Massimiliano ; Sarda, Pierre ; Stanzial, Franco ; Stewart, Helen ; Svaneby, Dea ; Theil, Christian T ; Till, Marianne ; Trakadis, Yannis ; Ville, Dorothée ; Vonwill, Sandrine ; Wilkie, Andrew ; Wiessner, Antje

Journal of medical genetics, 2019-10, Vol.56 (10), p.701-710 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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7
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Zufferey, Flore ; Sherr, Elliott H ; Beckmann, Noam D ; Hanson, Ellen ; Maillard, Anne M ; Hippolyte, Loyse ; Macé, Aurélien ; Ferrari, Carina ; Kutalik, Zoltán ; Andrieux, Joris ; Aylward, Elizabeth ; Barker, Mandy ; Bernier, Raphael ; Bouquillon, Sonia ; Conus, Philippe ; Delobel, Bruno ; Faucett, W Andrew ; Goin-Kochel, Robin P ; Grant, Ellen ; Harewood, Louise ; Hunter, Jill V ; Lebon, Sébastien ; Ledbetter, David H ; Martin, Christa Lese ; Männik, Katrin ; Martinet, Danielle ; Mukherjee, Pratik ; Ramocki, Melissa B ; Spence, Sarah J ; Steinman, Kyle J ; Tjernagel, Jennifer ; Spiro, John E ; Reymond, Alexandre ; Beckmann, Jacques S ; Chung, Wendy K ; Jacquemont, Sébastien

Journal of medical genetics, 2012-10, Vol.49 (10), p.660-668 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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8
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
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Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

Loviglio, M N ; Leleu, M ; Männik, K ; Passeggeri, M ; Giannuzzi, G ; van der Werf, I ; Waszak, S M ; Zazhytska, M ; Roberts-Caldeira, I ; Gheldof, N ; Migliavacca, E ; Alfaiz, A A ; Hippolyte, L ; Maillard, A M ; Van Dijck, A ; Kooy, R F ; Sanlaville, D ; Rosenfeld, J A ; Shaffer, L G ; Andrieux, J ; Marshall, C ; Scherer, S W ; Shen, Y ; Gusella, J F ; Thorsteinsdottir, U ; Thorleifsson, G ; Dermitzakis, E T ; Deplancke, B ; Beckmann, J S ; Rougemont, J ; Jacquemont, S ; Reymond, A

Molecular psychiatry, 2017-06, Vol.22 (6), p.836-849 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases
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Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases

Racine, Caroline ; Denommé-Pichon, Anne-Sophie ; Engel, Camille ; Tran Mau-them, Frederic ; Bruel, Ange-Line ; Vitobello, Antonio ; Safraou, Hana ; Sorlin, Arthur ; Nambot, Sophie ; Delanne, Julian ; Garde, Aurore ; Colin, Estelle ; Moutton, Sébastien ; Thevenon, Julien ; Jean-Marçais, Nolwenn ; Willems, Marjolaine ; Geneviève, David ; Pinson, Lucile ; Perrin, Laurence ; Laffargue, Fanny ; Lacaze, Elodie ; Molin, Arnaud ; Gerard, Marion ; Lambert, Laetitia ; Benigni, Charlotte ; Patat, Olivier ; Bourgeois, Valentin ; Poe, Charlotte ; Chevarin, Martin ; Couturier, Victor ; Philippe, Christophe ; Duffourd, Yannis ; Faivre, Laurence ; Thauvin-Robinet, Christel ; Verloes, Alain ; Goldenberg, Alice ; Masurel, Alice ; Vincent, Aline ; Frances-Guidet, Anne-Marie ; Laudier, Béatrice ; Demeer, Bénédicte ; Funalot, Benoit ; Doray, Bérénice ; Gilbert-Dussardier, Brigitte ; Leheup, Bruno ; Poirsier, Céline ; Dubucs, Charlotte ; Chiaverini, Christine ; Coubes, Christine ; Francannet, Christine ; Colson, Cindy ; Bansept, Claire ; Wells, Constance ; Goizet, Cyril ; Mignot, Cyril ; Amram, Daniel ; Amsallem, Daniel ; Lacombe, Didier ; Martin-Coignard, Dominique ; Schaefer, Elise ; Guiliano, Fabienne ; Prieur, Fabienne ; Petit, Florence ; Riccardi, Florence ; Meloni, Francesca ; Feillet, François ; Guyader, Gwenael Le ; Journel, Hubert ; Coupier, Isabelle ; Maystadt, Isabelle ; Alessandri, Jean-Luc ; Ruaud, Lyse ; Jacquemont, Marie-Line ; Bonnet-Dupeyron, Marie Noëlle ; Lebrun, Marine ; Spodenkiewicz, Marta ; Renaud, Mathilde ; Grelet, Maude ; Chassaing, Nicolas ; Philip, Nicole ; Boute, Odile ; Pujol, Pascal ; Blanchet, Patricia ; Kien, Philippe Khau Van ; Parent, Philippe ; Vabres, Pierre ; Touraine, Renaud ; Caumes, Roseline ; Sigaudy, Sabine ; Whalen, Sandra ; Passemard, Sandrine ; Grotto, Sarah ; Bellanger, Séverine Audebert ; Julia, Sophie ; Bertrand, Thierry Lavabre ; Busa, Tiffany ; Layet, Valérie ; Bizaoui, Varoona ; Trujillo, Yaumara Perdomo ; Capri, Yline

Journal of medical genetics, 2024-01, Vol.61 (1), p.36-46 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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10
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
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Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

Soilly, A L ; Robert-Viard, C ; Besse, C ; Bruel, A L ; Gerard, B ; Boland, A ; Piton, A ; Duffourd, Y ; Muller, J ; Poë, C ; Jouan, T ; El Doueiri, S ; Faivre, L ; Bacq-Daian, D ; Isidor, B ; Genevieve, D ; Odent, S ; Philip, N ; Doco-Fenzy, M ; Lacombe, D ; Asensio, M L ; Deleuze, J F ; Binquet, C ; Thauvin-Robinet, C ; Lejeune, C

BMC health services research, 2023-04, Vol.23 (1), p.386-386, Article 386 [Periódico revisado por pares]

England: BioMed Central Ltd

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