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발행년	- (예 : 2010-2015)

DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype.

Academic Journal

Dard, Rodolphe; Herve, Bérénice; Leblanc, Thierry; Villartay, Jean‐Pierre; Collopy, Laura; Vulliami, Tom; Drunat, Severine; Gorde, Stephanie; Babik, Abel; Souchon, Pierre‐François; Agadr, Aomar; Abilkassem, Rachid; Elalloussi, Mustapha; Verloes, Alain; Doco‐Fenzy, Martine

Pediatric Allergy & Immunology. May2017, Vol. 28 Issue 3, p298-303. 5p.

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Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.

Academic Journal

Jullien, Laurent; Kannengiesser, Caroline; Kermasson, Laetitia; Cormier‐Daire, Valérie; Leblanc, Thierry; Soulier, Jean; Londono‐Vallejo, Arturo; Villartay, Jean‐Pierre; Callebaut, Isabelle; Revy, Patrick

Human Mutation; May2016, Vol. 37 Issue 5, p469-472, 4p

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The Expanding Spectrum of Human coronin 1A deficiency.

Academic Journal

Moshous, Despina; Villartay, Jean-Pierre

Current Allergy & Asthma Reports; Dec2014, Vol. 14 Issue 12, p1-8, 8p

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Diagnosis of 22q11.2 Deletion Syndrome and Artemis Deficiency in Two Children with T-B-NK+ Immunodeficiency.

Academic Journal

Heimall, Jennifer; Keller, Michael; Saltzman, Rushani; Bunin, Nancy; McDonald-McGinn, Donna; Zakai, Elaine; Villartay, Jean-Pierre; Moshous, Despina; Ariue, Barbara; McCarthy, Elizabeth; Devlin, Blythe; Parikh, Suhag; Buckley, Rebecca; Markert, M.

Journal of Clinical Immunology. Oct2012, Vol. 32 Issue 5, p1141-1144. 4p.

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The V(D)J Recombination/DNA Repair Factor Artemis Belongs to the Metallo-β-Lactamase Family and Constitutes a Critical Developmental Checkpoint of the Lymphoid System.

Academic Journal

MOSHOUS, DESPINA; CALLEBAUT, ISABELLE; CHASSEVAL, RÉGINA; POINSIGNON, CATHERINE; VILLEY, ISABELLE; FISCHER, ALAIN; VILLARTAY, JEAN-PIERRE

Annals of the New York Academy of Sciences; 2003, Vol. 987 Issue 1, p150-157, 8p

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When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole-exome sequencing.

Academic Journal

Villartay, Jean‐Pierre

EMBO Molecular Medicine; Jul2015, Vol. 7 Issue 7, p862-864, 3p

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Clinical effects of mutations to CD95 (Fas): relevance to autoimmunity?

Academic Journal

Villartay, Jean-Pierre; Rieux-Laucat, Frédéric; Fischer, Alain; Deist, Françoise

Springer Seminars in Immunopathology; Sep1998, Vol. 19 Issue 3, p301-310, 10p

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The V(D)J RecombinationDNA Repair Factor Artemis Belongs to the Metallo-?-Lactamase Family and Constitutes a Critical Developmental Checkpoint of the Lymphoid System

Periodical

MOSHOUS, DESPINA; CALLEBAUT, ISABELLE; CHASSEVAL, RÉGINA; POINSIGNON, CATHERINE; VILLEY, ISABELLE; FISCHER, ALAIN; VILLARTAY, JEAN-PIERRE

Annals of the New York Academy of Sciences; April 2003, Vol. 987 Issue: 1 p150-157, 8p

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Impaired telomere integrity and rRNA biogenesis in PARN‐deficient patients and knock‐out models.

Academic Journal

Benyelles, Maname; Episkopou, Harikleia; O'Donohue, Marie‐Françoise; Kermasson, Laëtitia; Frange, Pierre; Poulain, Florian; Burcu Belen, Fatma; Polat, Meltem; Bole‐Feysot, Christine; Langa‐Vives, Francina; Gleizes, Pierre‐Emmanuel; Villartay, Jean‐Pierre; Callebaut, Isabelle; Decottignies, Anabelle; Revy, Patrick

EMBO Molecular Medicine; Jul2019, Vol. 11 Issue 7, pN.PAG-N.PAG, 1p

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