Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma
暂无分享,去创建一个
J. Casanova | Scott B. Dewell | C. Picard | A. Abhyankar | S. Feske | B. Boisson | L. Abel | S. Plancoulaine | E. Jouanguy | A. Palanduz | L. Telhan | Virginie Lelarge | Minji Byun | Connie Zhao
[1] M. DePristo,et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.
[2] Nada Jabado,et al. Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next‐generation exome sequencing , 2010, Human mutation.
[3] Tom Walsh,et al. Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. , 2010, American journal of human genetics.
[4] Christian Gilissen,et al. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome , 2010, Nature Genetics.
[5] D. Ganem. KSHV and the pathogenesis of Kaposi sarcoma: listening to human biology and medicine. , 2010, The Journal of clinical investigation.
[6] J. Casanova,et al. Classic Kaposi Sarcoma in 3 Unrelated Turkish Children Born to Consanguineous Kindreds , 2010, Pediatrics.
[7] P. Shannon,et al. Exome sequencing identifies the cause of a Mendelian disorder , 2009, Nature Genetics.
[8] I. Tikhonova,et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing , 2009, Proceedings of the National Academy of Sciences.
[9] U. Tirelli,et al. AIDS-related Kaposi's sarcoma: state of the art and therapeutic strategies. , 2009, Current HIV research.
[10] J. Casanova,et al. Human genetics of infectious diseases: between proof of principle and paradigm. , 2009, The Journal of clinical investigation.
[11] S. Feske. ORAI1 and STIM1 deficiency in human and mice: roles of store‐operated Ca2+ entry in the immune system and beyond , 2009, Immunological reviews.
[12] Gonçalo R. Abecasis,et al. The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..
[13] F. Rieux-Laucat,et al. STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. , 2009, The New England journal of medicine.
[14] C. Lebbé,et al. Kaposi sarcoma in transplantation. , 2008, Transplantation reviews.
[15] Mahmoud R. Hussein. Cutaneous and lymphadenopathic Kaposi’s sarcoma: a case report and review of literature , 2008, Journal of cutaneous pathology.
[16] J. Casanova,et al. Primary Immunodeficiencies: A Field in Its Infancy , 2007, Science.
[17] Bogdan Tanasa,et al. A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function , 2006, Nature.
[18] A. Fischer,et al. Kaposi’s sarcoma in a child with Wiskott-Aldrich syndrome , 2006, European Journal of Pediatrics.
[19] S. Feske,et al. A severe defect in CRAC Ca2+ channel activation and altered K+ channel gating in T cells from immunodeficient patients , 2005, The Journal of experimental medicine.
[20] J. Casanova,et al. HHV-8–associated Kaposi sarcoma in a child with IFNγR1 deficiency , 2004 .
[21] A. Ferrari,et al. Malignant vascular tumors in children and adolescents: a report from the Italian and German Soft Tissue Sarcoma Cooperative Group. , 2002, Medical and pediatric oncology.
[22] J. Bogart,et al. Classic Kaposi's sarcoma associated with human herpesvirus 8 infection in a 13-year-old male: a case report. , 2001, Clinical cancer research : an official journal of the American Association for Cancer Research.
[23] C. Boshoff,et al. Epidemiology and pathogenesis of Kaposi's sarcoma-associated herpesvirus. , 2001, Philosophical transactions of the Royal Society of London. Series B, Biological sciences.
[24] N. Akdeniz,et al. A juvenile case of classic Kaposi's sarcoma. , 1999, Acta dermato-venereologica.
[25] C. Boshoff,et al. Kaposi's sarcoma-associated herpesvirus and Kaposi's sarcoma in Africa. Uganda Kaposi's Sarcoma Study Group. , 1996, Archives of internal medicine.
[26] P. Biberfeld,et al. A role for a new herpes virus (KSHV) in different forms of Kaposi's sarcoma , 1995, Nature Medicine.
[27] P. Moore,et al. Detection of herpesvirus-like DNA sequences in Kaposi's sarcoma in patients with and those without HIV infection. , 1995, The New England journal of medicine.
[28] V. Calvez,et al. Herpesvirus-like DNA sequences in patients with Mediterranean Kaposi's sarcoma , 1995, The Lancet.
[29] E. Cesarman,et al. Identification of herpesvirus-like DNA sequences in AIDS-associated Kaposi's sarcoma. , 1994, Science.
[30] S. Zurrida,et al. Juvenile classic Kaposi's sarcoma: a report of two cases, one with family history. , 1994, Pediatric hematology and oncology.
[31] U. Ertem,et al. Aggressive Kaposi's sarcoma in children: a case report. , 1989, The Turkish journal of pediatrics.
[32] C. Bosman,et al. Primary kaposi's sarcoma of the lymph node in children , 1988, Cancer.
[33] A. Stout,et al. Kaposi's sarcoma in infants and children , 1960, Cancer.
[34] Kaposi,et al. Idiopathisches multiples Pigmentsarkom der Haut , 1872, Archiv für Dermatologie und Syphilis.
[35] J. Casanova,et al. HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency. , 2004, The Journal of pediatrics.
[36] Claude-Alain H. Roten,et al. Theoretical and practical advances in genome halving , 2004 .