Literature DB >> 18617443

What does it take to call it a pathogenic mutation?

Thomas A Fleisher, Luigi D Notarangelo.   

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Year:  2008        PMID： 18617443      PMCID： PMC5482425          DOI： 10.1016/j.clim.2008.04.013

Source DB:  PubMed          Journal:  Clin Immunol        ISSN： 1521-6616            Impact factor:   3.969


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  12 in total

1.  Accounting for human polymorphisms predicted to affect protein function.

Authors:  Pauline C Ng; Steven Henikoff
Journal:  Genome Res       Date:  2002-03       Impact factor: 9.043

2.  A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency.

Authors:  P M Wood; A Mayne; H Joyce; C I Smith; D M Granoff; D S Kumararatne
Journal:  J Pediatr       Date:  2001-07       Impact factor: 4.406

3.  A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia.

Authors:  Eduardo López-Granados; Rebeca Pérez de Diego; Antonio Ferreira Cerdán; Gumersindo Fontán Casariego; Maria Cruz García Rodríguez
Journal:  J Allergy Clin Immunol       Date:  2005-09       Impact factor: 10.793

4.  Genotype/phenotype correlations in X-linked agammaglobulinemia.

Authors:  Arnon Broides; Wenjian Yang; Mary Ellen Conley
Journal:  Clin Immunol       Date:  2005-11-16       Impact factor: 3.969

Review 5.  Bioinformatics approaches and resources for single nucleotide polymorphism functional analysis.

Authors:  Sean Mooney
Journal:  Brief Bioinform       Date:  2005-03       Impact factor: 11.622

6.  Identification of novel non-pathogenic mutation in SH3 domain of Btk in an XLA patient.

Authors:  Rebeca Pérez de Diego; Jerónimo Bravo; Luis M Allende; Eduardo López-Granados; José Rivera; Antonio Ferreira; Gumersindo Fontán; Maria Cruz García Rodríguez
Journal:  Mol Immunol       Date:  2007-08-20       Impact factor: 4.407

7.  Discordant phenotype in siblings with X-linked agammaglobulinemia.

Authors:  M J Bykowsky; R N Haire; Y Ohta; H Tang; S S Sung; E S Veksler; J M Greene; S M Fu; G W Litman; K E Sullivan
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

8.  Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies).

Authors:  M E Conley; L D Notarangelo; A Etzioni
Journal:  Clin Immunol       Date:  1999-12       Impact factor: 3.969

9.  Identification of a Btk mutation in a dysgammaglobulinemic patient with reduced B cells: XLA diagnosis or not?

Authors:  Simona Graziani; Gigliola Di Matteo; Luigi Benini; Silvia Di Cesare; Maria Chiriaco; Loredana Chini; Marco Chianca; Fosca De Iorio; Maria La Rocca; Roberta Iannini; Stefania Corrente; Paolo Rossi; Viviana Moschese
Journal:  Clin Immunol       Date:  2008-09       Impact factor: 3.969

Review 10.  X-linked agammaglobulinemia: new approaches to old questions based on the identification of the defective gene.

Authors:  M E Conley; O Parolini; J Rohrer; D Campana
Journal:  Immunol Rev       Date:  1994-04       Impact factor: 12.988
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  2 in total

1.  Mutations in Bruton's tyrosine kinase impair IgA responses.

Authors:  Noriko Mitsuiki; Xi Yang; Sophinus J W Bartol; Christina Grosserichter-Wagener; Yoshiyuki Kosaka; Hidetoshi Takada; Kohsuke Imai; Hirokazu Kanegane; Shuki Mizutani; Mirjam van der Burg; Menno C van Zelm; Osamu Ohara; Tomohiro Morio
Journal:  Int J Hematol       Date:  2015-01-15       Impact factor: 2.490

2.  Late-Onset Non-HLH Presentations of Growth Arrest, Inflammatory Arachnoiditis, and Severe Infectious Mononucleosis, in Siblings with Hypomorphic Defects in UNC13D.

Authors:  Paul Edgar Gray; Bella Shadur; Susan Russell; Richard Mitchell; Michael Buckley; Kerri Gallagher; Ian Andrews; Kevin Thia; Joseph A Trapani; Edwin Philip Kirk; Ilia Voskoboinik
Journal:  Front Immunol       Date:  2017-08-09       Impact factor: 7.561
  2 in total

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