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在“SpringerLink电子期刊”中，命中：9条，耗时：0.0769656 秒

在所有数据库中总计命中：65条

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

作者： Stefano Stagi ; Anna Virginia Gulino ; Elisabetta Lapi…

关键词：Kabuki syndrome ; KMT2D (MLL2) ; KDM6A (UTX) ; Autoimmunity ; Epigenetic regulation ; Thrombocytopenia ; Antibody deficiency

刊名：Immunologic Research

出版年：2016

2. Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene

作者：Gerarda Cappuccio (1)
Alessandro Rossi (1)
Paolo Fontana (1)
Emma Acampora (1)
Valeria Avolio (1)
Giuseppe Merla (2)
Leopoldo Zelante (2)
Aurelio Secinaro (3)
Generoso Andria (1)
Daniela Melis (1)

关键词：Kabuki syndrome ; Isomerism ; Respiratory distress

刊名：BMC Medical Genetics

出版年：2014

3. Spinal ependymoma in a patient with Kabuki syndrome: a case report

作者： Davide Roma ; Paolo Palma ; Rossella Capolino ; Lorenzo Figà-Talamanca…

关键词：Kabuki syndrome ; Spinal ependymoma ; KMT2D mutation ; Cancer predisposition syndromes

刊名：BMC Medical Genetics

出版年：2015

4. X-Linked Agammaglobulinemia Associated with B-Precursor Acute Lymphoblastic Leukemia

作者： Akihiro Hoshino ; Yusuke Okuno ; Masahiro Migita…

关键词：Acute lymphoblastic leukemia ; Bruton’s tyrosine kinase ; MLL2 ; X ; linked agammaglobulinemia

刊名：Journal of Clinical Immunology

出版年：2015

5. Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)

作者：Yi-Hsing Chen (1) (2)
Ming-Hui Sun (1) (2)
Shao-Hsuan Hsia (1) (3)
Chi-Chun Lai (1) (2)
Wei-Chi Wu (1) (2)

1. Department of Ophthalmology ; Chang Gung Memorial Hospital ; No. 5 ; Fu-Hsing Street ; Kweishan ; Taoyuan ; 333 ; Taiwan
2. College of Medicine ; Chang Gung University ; Taoyuan ; Taiwan
3. Department of Pediatrics ; Chang Gung Memorial Hospital ; Taoyuan ; Taiwan

关键词：Kabuki syndrome ; Colobomatous microphthalmia ; Optic disc dysplasia ; MLL2 gene mutation

刊名：BMC Ophthalmology

出版年：2014

6. A novel mutation in SOX3 polyalanine tract: a case of kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3

作者：Masaki Takagi (1) (2)
Tomohiro Ishii (1)
Chiharu Torii (3)
Kenjiro Kosaki (3)
Tomonobu Hasegawa (1)

关键词：CPHD ; SOX3 ; PA tract

刊名：Pituitary

出版年：2014

7. Aberrant patterns of H3K4 and H3K27 histone lysine methylation occur across subgroups in medulloblastoma

作者：Adrian M. Dubuc (1) (2) (3)
Marc Remke (1) (2) (3)
Andrey Korshunov (4) (5) (6)
Paul A. Northcott (6)
Shing H. Zhan (7)
Maria Mendez-Lago (7)
Marcel Kool (6)
David T. W. Jones (6)
Alexander Unterberger (1) (2)
A. Sorana Morrissy (1) (2)
David Shih (1) (2) (3)
John Peacock (1) (2) (3)
Vijay Ramaswamy (1) (2) (3)
Adi Rolider (1) (2)
Xin Wang (1) (2) (3)
Hendrik Witt (6)
Thomas Hielscher (6)
Cynthia Hawkins (1) (2) (3)
Rajeev Vibhakar (8)
Sidney Croul (9)
James T. Rutka (1) (3)
William A. Weiss (10)
Steven J. M. Jones (7)
Charles G. Eberhart (11)
Marco A. Marra (7)
Stefan M. Pfister (6)
Michael D. Taylor (1) (2) (3)

关键词：MLL2 ; KDM6A ; Histone lysine methylation ; Medulloblastoma ; PRC2

刊名：Acta Neuropathologica

出版年：2013

8. Epigenetic alterations in hematopoietic malignancies

作者：Young Rock Chung (1)
Emma Schatoff (1)
Omar Abdel-Wahab (1)

关键词：ASXL1 ; BAP1 ; Chromatin ; CREBBP ; DNMT3A ; Epigenetics ; EP300 ; EZH2 ; IDH1 ; IDH2 ; Leukemia ; Lymphoma ; Methylation ; MLL ; Myelodysplastic syndrome ; TET2

刊名：International Journal of Hematology

出版年：2012

9. Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

作者：Lucia Micale (1)
Bartolomeo Augello (1)
Carmela Fusco (1)
Angelo Selicorni (2)
Maria N Loviglio (1)
Margherita Cirillo Silengo (3)
Alexandre Reymond (4)
Barbara Gumiero (2)
Federica Zucchetti (2)
Ester V D’Addetta (1)
Elga Belligni (3)
Alessia Calcagnì (1)
Maria C Digilio (5)
Bruno Dallapiccola (5)
Francesca Faravelli (6)
Francesca Forzano (6)
Maria Accadia (7)
Aldo Bonfante (8)
Maurizio Clementi (9)
Cecilia Daolio (9)
Sofia Douzgou (10)
Paola Ferrari (11)
Rita Fischetto (12)
Livia Garavelli (13)
Elisabetta Lapi (14)
Teresa Mattina (15)
Daniela Melis (16)
Maria G Patricelli (17)
Manuela Priolo (18)
Paolo Prontera (19)
Alessandra Renieri (20)
Maria A Mencarelli (20)
Gioacchino Scarano (21)
della Matteo Monica (21)
Benedetta Toschi (22)
Licia Turolla (23)
Alessandra Vancini (24)
Adriana Zatterale (25)
Orazio Gabrielli (26)
Leopoldo Zelante (1)
Giuseppe Merla (1)

刊名：Orphanet Journal of Rare Diseases

出版年：2011

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