Literature DB >> 29846842

Cerebral Lymphoproliferation in a Patient with Kabuki Syndrome.

Antonio Marzollo1, Davide Colavito2, Stefano Sartori3, Giuseppe Nicolò Fanelli4, Maria Caterina Putti5.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2018        PMID： 29846842     DOI： 10.1007/s10875-018-0516-9

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


× No keyword cloud information.
  5 in total

1.  MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

Authors:  Aimée D C Paulussen; Alexander P A Stegmann; Marinus J Blok; Demis Tserpelis; Crool Posma-Velter; Yvonne Detisch; Eric E J G L Smeets; Annemieke Wagemans; Jaap J P Schrander; Marie-José H van den Boogaard; Jasper van der Smagt; Arie van Haeringen; Irene Stolte-Dijkstra; Wilhelmina S Kerstjens-Frederikse; Grazia M Mancini; Marja W Wessels; Raoul C M Hennekam; Maaike Vreeburg; Joep Geraedts; Thomy de Ravel; Jean-Pierre Fryns; Hubert J Smeets; Koenraad Devriendt; Constance T R M Schrander-Stumpel
Journal:  Hum Mutat       Date:  2010-12-07       Impact factor: 4.878

2.  Immunologic assessment and KMT2D mutation detection in Kabuki syndrome.

Authors:  J-L Lin; W-I Lee; J-L Huang; P K-T Chen; K-C Chan; L-J Lo; Y-J You; Y-F Shih; T-Y Tseng; M-C Wu
Journal:  Clin Genet       Date:  2014-10-14       Impact factor: 4.438

Review 3.  CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency.

Authors:  Bernice Lo; Jill M Fritz; Helen C Su; Gulbu Uzel; Michael B Jordan; Michael J Lenardo
Journal:  Blood       Date:  2016-07-14       Impact factor: 22.113

Review 4.  Epigenetic control of the immune system: a lesson from Kabuki syndrome.

Authors:  Stefano Stagi; Anna Virginia Gulino; Elisabetta Lapi; Donato Rigante
Journal:  Immunol Res       Date:  2016-04       Impact factor: 2.829

Review 5.  Phenotype-driven strategies for exome prioritization of human Mendelian disease genes.

Authors:  Damian Smedley; Peter N Robinson
Journal:  Genome Med       Date:  2015-07-30       Impact factor: 11.117
  5 in total
  3 in total

Review 1.  Diagnostic Strategies and Algorithms for Investigating Cancer Predisposition Syndromes in Children Presenting with Malignancy.

Authors:  Linda Rossini; Caterina Durante; Silvia Bresolin; Enrico Opocher; Antonio Marzollo; Alessandra Biffi
Journal:  Cancers (Basel)       Date:  2022-07-31       Impact factor: 6.575

Review 2.  Kabuki Syndrome-Clinical Review with Molecular Aspects.

Authors:  Snir Boniel; Krystyna Szymańska; Robert Śmigiel; Krzysztof Szczałuba
Journal:  Genes (Basel)       Date:  2021-03-25       Impact factor: 4.096

Review 3.  Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.

Authors:  Francesca Di Candia; Paolo Fontana; Pamela Paglia; Mariateresa Falco; Carmen Rosano; Carmelo Piscopo; Gerarda Cappuccio; Maria Anna Siano; Daniele De Brasi; Claudia Mandato; Ilaria De Maggio; Gabriella Maria Squeo; Matteo Della Monica; Gioacchino Scarano; Fortunato Lonardo; Pietro Strisciuglio; Giuseppe Merla; Daniela Melis
Journal:  Eur J Pediatr       Date:  2021-07-07       Impact factor: 3.183
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.