Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number

[1]  E. Mohammadi,et al.  Barriers and facilitators related to the implementation of a physiological track and trigger system: A systematic review of the qualitative evidence , 2017, International journal for quality in health care : journal of the International Society for Quality in Health Care.

[2]  S. Sunyaev,et al.  Genes with monoallelic expression contribute disproportionately to genetic diversity in humans , 2016, Nature Genetics.

[3]  Larry N. Singh,et al.  Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations. , 2015, American journal of human genetics.

[4]  L. Schwartz,et al.  A Simple, Sensitive and Safe Method to Determine the Human α/β-Tryptase Genotype , 2014, PloS one.

[5]  G. Mortier,et al.  Familial hypertryptasemia with associated mast cell activation syndrome. , 2014, The Journal of allergy and clinical immunology.

[6]  W. Hemmer,et al.  Clinical characteristics and risk profile of patients with elevated baseline serum tryptase. , 2014, Allergologia et immunopathologia.

[7]  T. Fleisher Autosomal Recessive Phosphoglucomutase 3 (PGM3) Mutations Link Glycosylation Defects to Atopy, Immune Deficiency, Autoimmunity, and Neurocognitive Impairment , 2014, Pediatrics.

[8]  W. Hemmer,et al.  Sensitization to Hymenoptera venoms is common, but systemic sting reactions are rare. , 2014, The Journal of allergy and clinical immunology.

[9]  J. Lyons,et al.  Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities. , 2014, The Journal of allergy and clinical immunology.

[10]  C. Bindslev‐Jensen,et al.  Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocytosis , 2014, American journal of hematology.

[11]  J. Hughes,et al.  Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. , 2014, The Journal of allergy and clinical immunology.

[12]  Hongliang Li,et al.  Autoimmune Basis for Postural Tachycardia Syndrome , 2014, Journal of the American Heart Association.

[13]  D. Haussler,et al.  The Somatic Genomic Landscape of Glioblastoma , 2013, Cell.

[14]  Christopher C Winchester,et al.  Update on the epidemiology of gastro-oesophageal reflux disease: a systematic review , 2013, Gut.

[15]  M. Castells,et al.  Immunology and Clinical Manifestations of Non-Clonal Mast Cell Activation Syndrome , 2013, Current Allergy and Asthma Reports.

[16]  J. Mandrekar,et al.  COMPASS 31: a refined and abbreviated Composite Autonomic Symptom Score. , 2012, Mayo Clinic proceedings.

[17]  M. Castori Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations , 2012, ISRN dermatology.

[18]  R. Grahame,et al.  Joint hypermobility syndrome , 2011, BMJ : British Medical Journal.

[19]  L. Schwartz,et al.  Serum total tryptase levels are increased in patients with active chronic urticaria , 2010, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

[20]  A. Farmer,et al.  Unexplained gastrointestinal symptoms and joint hypermobility: is connective tissue the missing link? , 2010, Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society.

[21]  P. Kwok,et al.  Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations. , 2009, The Journal of allergy and clinical immunology.

[22]  H. Küchenhoff,et al.  Predictors of severe systemic anaphylactic reactions in patients with Hymenoptera venom allergy: importance of baseline serum tryptase-a study of the European Academy of Allergology and Clinical Immunology Interest Group on Insect Venom Hypersensitivity. , 2009, The Journal of allergy and clinical immunology.

[23]  W. Hwu,et al.  Somatic and germ‐line mosaicism in Rubinstein–Taybi syndrome , 2009, American journal of medical genetics. Part A.

[24]  A. Rolfs,et al.  New aspects of liver abnormalities as part of the systemic mast cell activation syndrome , 2009, Liver international : official journal of the International Association for the Study of the Liver.

[25]  L. Remvig,et al.  Epidemiology of general joint hypermobility and basis for the proposed criteria for benign joint hypermobility syndrome: review of the literature. , 2007, The Journal of rheumatology.

[26]  D. Drossman,et al.  Rome III: New standard for functional gastrointestinal disorders. , 2006, Journal of gastrointestinal and liver diseases : JGLD.

[27]  L. Schwartz Diagnostic value of tryptase in anaphylaxis and mastocytosis. , 2006, Immunology and allergy clinics of North America.

[28]  P. Sarzi-Puttini,et al.  Biology and therapy of fibromyalgia. Genetic aspects of fibromyalgia syndrome , 2006, Arthritis research & therapy.

[29]  Peter Henningsen,et al.  Medically Unexplained Physical Symptoms, Anxiety, and Depression: A Meta‐Analytic Review , 2003, Psychosomatic medicine.

[30]  D. Metcalfe,et al.  Determination of protein phosphorylation in Fc epsilon RI-activated human mast cells by immunoblot analysis requires protein extraction under denaturing conditions. , 2002, Journal of immunological methods.

[31]  M. Adams,et al.  Recent Segmental Duplications in the Human Genome , 2002, Science.

[32]  P. Schoenfeld,et al.  The epidemiology of irritable bowel syndrome in North America: a systematic review , 2002, American Journal of Gastroenterology.

[33]  B. Foster,et al.  Demonstration that human mast cells arise from a progenitor cell population that is CD34(+), c-kit(+), and expresses aminopeptidase N (CD13). , 1999, Blood.

[34]  L. Schwartz,et al.  Cloning and characterization of a second complementary DNA for human tryptase. , 1990, The Journal of clinical investigation.

[35]  D. Seldin,et al.  Acid hydrolases and tryptase from secretory granules of dispersed human lung mast cells. , 1981, Journal of immunology.

[36]  A. Linneberg,et al.  Factors influencing serum total tryptase concentrations in a general adult population , 2010, Clinical chemistry and laboratory medicine.

[37]  Alexander F. Wilson,et al.  Research in Genomic Medicine the Clinseq Project: Piloting Large-scale Genome Sequencing for Material Supplemental , 2009 .

[38]  N. Trivedi,et al.  Mast cell alpha and beta tryptases changed rapidly during primate speciation and evolved from gamma-like transmembrane peptidases in ancestral vertebrates. , 2007, Journal of immunology.

[39]  A. R.,et al.  Review of literature , 1951, American Potato Journal.

[40]  G. Abecasis,et al.  Merlin—rapid analysis of dense genetic maps using sparse gene flow trees , 2002, Nature Genetics.

[41]  Judith A. Hall,et al.  A Meta-analytic Review , 2002 .