Literature DB >> 27098246

Immunodeficiency in a Child with 22q11.2 Microduplication Syndrome.

Robyn Traynor1, Karina M Butler2, Andrew J Cant3, Timothy Ronan Leahy4.   

Abstract

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Year:  2016        PMID： 27098246     DOI： 10.1007/s10875-016-0286-1

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


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  4 in total

1.  A common molecular basis for rearrangement disorders on chromosome 22q11.

Authors:  L Edelmann; R K Pandita; E Spiteri; B Funke; R Goldberg; N Palanisamy; R S Chaganti; E Magenis; R J Shprintzen; B E Morrow
Journal:  Hum Mol Genet       Date:  1999-07       Impact factor: 6.150

2.  DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation.

Authors:  H Engels; A Brockschmidt; A Hoischen; C Landwehr; K Bosse; C Walldorf; G Toedt; B Radlwimmer; P Propping; P Lichter; R G Weber
Journal:  Neurology       Date:  2007-03-06       Impact factor: 9.910

Review 3.  Microduplication 22q11.2: a new chromosomal syndrome.

Authors:  Marie-France Portnoï
Journal:  Eur J Med Genet       Date:  2009-02-28       Impact factor: 2.708

4.  Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.

Authors:  Regina E Ensenauer; Adewale Adeyinka; Heather C Flynn; Virginia V Michels; Noralane M Lindor; D Brian Dawson; Erik C Thorland; Cindy Pham Lorentz; Jennifer L Goldstein; Marie T McDonald; Wendy E Smith; Elba Simon-Fayard; Alan A Alexander; Anita S Kulharya; Rhett P Ketterling; Robin D Clark; Syed M Jalal
Journal:  Am J Hum Genet       Date:  2003-10-02       Impact factor: 11.025
  4 in total
  3 in total

1.  A 13-Year-Old Child with Lupus-Like Nephritis and 22q11 Microduplication Syndrome.

Authors:  Zoi Dorothea Pana; Maria Stamou; Ioannis Kalevrosoglou; Ioannis Kyriakidis; Maria Hatzistilianou
Journal:  J Clin Immunol       Date:  2016-11-04       Impact factor: 8.317

2.  Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes.

Authors:  Elise J Huisman; A Rick Brooimans; Samone Mayer; Marieke Joosten; Louis de Bont; Mariëlle Dekker; Elisabeth L M Rammeloo; Frans J Smiers; P Martin van Hagen; C Michel Zwaan; Masja de Haas; Marjon H Cnossen; Virgil A S H Dalm
Journal:  J Clin Immunol       Date:  2022-06-28       Impact factor: 8.317

3.  Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).

Authors:  Andrea Martin-Nalda; Anna M Cueto-González; Ana Argudo-Ramírez; Jose L Marin-Soria; Monica Martinez-Gallo; Roger Colobran; Albert Plaja; Neus Castells; Jacques Riviere; Eduardo F Tizzano; Pere Soler-Palacin
Journal:  Mol Genet Genomic Med       Date:  2019-10-30       Impact factor: 2.183
  3 in total

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