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Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

autor

Henri Margot

Elodie Sanchez

Elise Brischoux-Boucher

Lydie Burglen

Solène Conrad

Geoffroy Delplancq

Vincent Gatinois

Jamal Ghoumid

Virginie Magry

Florence Petit

Julie Robbe

Annick Toutain

Gabriella Vera

Sacha Weber

Damien Sanlaville

1969 -

David Geneviève

1970 -

Nathalie Aladjidi

Marie-Line Jacquemont

publicado en: Genetics in Medicine

fecha de publicación: 2019-07-31

tema principal: Síndrome de Kabuki

Cites articles 39

Fecha

Título

Autores

2019-03-01

Atypical Autoimmune Hematologic Disorders in a Patient With Kabuki Syndrome

Pilar Guerra-García
2019-06-01

VarSome: the human genomic variant search engine.
2017-04-02

Identification and Characterization of a Nationwide Danish Adult Common Variable Immunodeficiency Cohort

Lena Westh
2017-05-18

Advances in the Care of Primary Immunodeficiencies (PIDs): from Birth to Adulthood

Nizar Mahlaoui, Klaus Warnatz
2016-06-15

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Thomas Meitinger, Stanislas Lyonnet, Vincent Gatinois, Guillaume Sarrabay, Elodie Sanchez, Umut Altunoglu, Didier Lacombe, Valerie Cormier-Daire, Damien Sanlaville, Kim-Hanh Le Quan Sang, Nataliya Di Donato, Isabelle Touitou, Bernd Wollnik, , Yline Capri
2016-12-01

Childhood immune thrombocytopenia: A nationwide cohort study on condition management and outcomes

Slimane Allali, Claire Berger, L Grimaldi-Bensouda, Françoise Mazingue, Nathalie Aladjidi, Marlène Pasquet, Corinne Armari-Alla, Yves Perel, Fanny Fouyssac, Mary-France Courcoux
2016-09-27

The Prevalence of Vitiligo: A Meta-Analysis
2015-12-18

Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis

Fatih Gürbüz, Bilgin Yüksel
2015-07-17

Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome

Kimberly Risma
2015-09-28

Epigenetic control of the immune system: a lesson from Kabuki syndrome

Stefano Stagi
2014-03-27

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

Siddharth Banka, Susan White
2014-10-14

Immunologic assessment and KMT2D mutation detection in Kabuki syndrome

Jing-Long Huang
2014-05-01

Membranoproliferative glomerulonephritis Type 3 associated with Kabuki syndrome

Kazunari Kaneko
2014-10-10

Epidemiology of incident immune thrombocytopenia: a nationwide population-based study in France

Jean-Louis Montastruc, Aurore Palmaro, Maryse Lapeyre-Mestre, Bertrand Godeau
2013-09-30

The MLL3/MLL4 branches of the COMPASS family function as major histone H3K4 monomethylases at enhancers

Ali Shilatifard
2013-08-02

MLL2 and KDM6A mutations in patients with Kabuki syndrome

Tsutomu Ogata, Mitsuhiro Kato, Vorasuk Shotelersuk, Mustafa Tekin, Masaya Kubota, Yoshinori Tsurusaki, Hirotomo Saitsu, Norio Niikawa
2013-04-26

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study

Michael Simpson, Ivon Cuscó, Ann Nordgren, Richard C Trembath, Stylianos Antonarakis, Periklis Makrythanasis, Benjamín Rodríguez-Santiago, Peer Arts, Lucia Micale, Christiane Zweier, Joris A Veltman, Christian Gilissen, Han Brunner
2012-01-13

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome

Bruno Dallapiccola, Christine Verellen-Dumoulin
2012-03-27

A review of the worldwide prevalence of vitiligo in children/adolescents and adults
2012-07-18

Pathogenesis of autoimmunity in common variable immunodeficiency

Klaus Warnatz
2011-04-01

The super elongation complex (SEC) and MLL in development and disease
2011-01-12

New insights into childhood autoimmune hemolytic anemia: a French national observational study of 265 children

Alain Fischer, Geneviève Chêne, Brigitte Nelken, Pierre S Rohrlich, Brigitte Bader-Meunier, Nathalie Aladjidi, Fanny Fouyssac
2011-07

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

Jill Clayton-Smith, Jay Shendure, Siddharth Banka, Graeme Black, Colleen A. Morris, Deborah A Nickerson, Heather C. Mefford, Michael J Bamshad, Abigail W Bigham, Kati J Buckingham, Mark C Hannibal, Heidi I S Gildersleeve, Anita E Beck, Holly K Tabor, Tohru Ohta, Norio Niikawa
2011-05-24

A mutation screen in patients with Kabuki syndrome

Gabriele Gillessen-Kaesbach, Gökhan Yigit, Bernd Wollnik
2011-06-09

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

Margherita Cirillo Silengo, Bruno Dallapiccola, Daniela Melis, Alexandre Reymond, Teresa Mattina, Livia Garavelli, Gioacchino Scarano
2010-09

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Jay Shendure, Emily H Turner, Deborah A Nickerson, Heather C. Mefford, Mark J Rieder, Michael J Bamshad, Abigail W Bigham, Kati J Buckingham, Mark C Hannibal, Heidi I S Gildersleeve, Anita E Beck, Holly K Tabor, Choli Lee, Tohru Ohta, Norio Niikawa
2010-09-01

Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia

A. Micheil Innes
2010-07-16

Histone H2A and H2B are monoubiquitinated at AID-targeted loci

Glen M Borchert, Nathaniel W Holton, Kevin A. Edwards, Laura A Vogel
2009-01-16

Global mapping of H3K4me3 and H3K27me3 reveals specificity and plasticity in lineage fate determination of differentiating CD4+ T cells

Yuka Kanno, Chongzhi Zang, Jinfang Zhu, Lai Wei
2009-10-09

Recent insights in the epidemiology of autoimmune diseases: improved prevalence estimates and understanding of clustering of diseases
2008-11-12

Standardization of terminology, definitions and outcome criteria in immune thrombocytopenic purpura of adults and children: report from an international working group

Miguel A Sanz, James Bruce Bussel, Bertrand Godeau, Victor S. Blanchette, Roberto Stasi, Francesco Rodeghiero, Nichola Cooper, Thomas Kühne, Douglas Cines
2007-08-30

Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination

Danny Reinberg, Patrick Trojer

Artículo - wd:Q92297025

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