Resources

Arterial spin labeling brain MRI study to evaluate the impact of deafness on cerebral perfusion in 79 children before cochlear implantation.

Ludovic Fillon, Ana Saitovitch, Sandrine Marlin, Jennifer Boisgontier, Alice Vinçon-Leite, Hervé Lemaître, Monica Zilbovicius , Nathalie Boddaert, Caroline Rutten

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Rest Functional Brain Maturation during the First Year of Life.

Hervé Lemaître, Pierre Augé, Ana Saitovitch, Alice Vinçon-Leite, Jean-Marc Tacchella, Ludovic Fillon, Nathalie Boddaert, Monica Zilbovicius

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Transient Nodal Signaling in Left Precursors Coordinates Opposed Asymmetries Shaping the Heart Loop.

Audrey Desgrange, Ségolène Bernheim , Tobias Holm Bønnelykke, Sigolène Meilhac

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Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients

Marie-Louise Frémond, Alice Lepelley, Luís Seabra, Yanick Crow

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Transient Nodal Signaling in Left Precursors Coordinates Opposed Asymmetries Shaping the Heart Loop.

Audrey Desgrange, Ségolène Bernheim

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Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling.

Alice Lepelley, Bénédicte Neven, Luís Seabra, Marie-Louise Frémond, Yanick Crow

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Loss-of-Function Mutation in PTPN2 Causes Aberrant Activation of JAK Signaling Via STAT and Very Early Onset Intestinal Inflammation.

Marianna Parlato, Fabienne CHARBIT-HENRION, Nadine CERF-BENSUSSAN , Sylvain Latour, Rémi DUCLAUX-LORAS, Emmanuel Martin, Frédéric Rieux-Laucat

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Loss-of-Function Mutation in PTPN2 Causes Aberrant Activation of JAK Signaling Via STAT and Very Early Onset Intestinal Inflammation.

Marianna Parlato, Fabienne CHARBIT-HENRION, Nadine CERF-BENSUSSAN , Bernadette BEGUE, Sylvain Latour, Rémi DUCLAUX-LORAS, Emmanuel Martin, Frédéric Rieux-Laucat

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Early-onset autoimmunity associated with SOCS1 haploinsufficiency.

Jérome Hadjadj, Marie-Claude Stolzenberg, Fabienne Mazerolles, Alain Fischer, Bénédicte Neven, Frédéric Rieux-Laucat

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Mesoderm patterning by a dynamic gradient of retinoic acid signalling.

Ségolène Bernheim , Sigolène Meilhac

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Generation of two induced pluripotent stem cell lines IMAGINi004-A and IMAGINi005-A from healthy donors.

Eddy Quelennec, Céline BANAL, Marie MICHAEL, Nathalie Lefort

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YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.

Laurence Hubert, Jean-Michel Rozet, Arnold Munnich, Claude Besmond

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Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment.

Céline BANAL, Eddy Quelennec, Jeanne Amiel, Sandrine Marlin, Véronique Pingault, Nathalie Lefort, Nadège Bondurand

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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.

Qian Zhang, Paul Bastard, Cecilia Korol, Jérémie Rosain, Quentin Philippot, Lucy Bizien, Anna-Lena Neehus, Gaspard Kerner, Yoann Seeleuthner, Jeremy Manry, Yohann SCHMITT, Tom Le Voyer, Bertrand Boisson, Stéphanie Boisson-Dupuis, Jacinta Bustamante , Anne Puel, Shen-Ying Zhang, Vivien Beziat, Emmanuelle Jouanguy, Laurent Abel , Aurélie Cobat, Jean-Laurent CASANOVA , Jacinta Bustamante , Loïc de Pontual, Jérome Hadjadj, Romain Levy, Isabelle Melki, Quentin Philippot, Stanislas Lyonnet, Patrick Nitschké, Aurore POULIET, Mohammed ZARHRATE, Laurent Abel , Laurent Abel , Jean-Laurent CASANOVA

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Auto-antibodies against type I IFNs in patients with life-threatening COVID-19.

Paul Bastard, Qian Zhang, Quentin Philippot, Jérémie Rosain, Vivien Beziat, Jeremy Manry, Lucy Bizien, Gaspard Kerner, Yoann Seeleuthner, Mélanie Migaud, Jérome Hadjadj, Stéphanie Boisson-Dupuis, Frédéric Rieux-Laucat, Anne Puel, Shen-Ying Zhang, Emmanuelle Jouanguy, Aurélie Cobat, Laurent Abel , Jean-Laurent CASANOVA , Bertrand Boisson, Soraya Boucherit, Jacinta Bustamante , Maya Chrabieh, Tom Le Voyer, Cécile Patissier, Manon Roynard, Natasha Vladikine, Jacinta Bustamante , Loïc de Pontual, Jérome Hadjadj, Romain Levy, Isabelle Melki, Quentin Philippot, Stanislas Lyonnet, Patrick Nitschké, Aurore POULIET, Mohammed ZARHRATE, Laurent Abel , Laurent Abel , Antonio Rausell, Laurent Abel , Jean-Laurent CASANOVA

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