Literature DB >> 28477796

A case of atypical, complete DiGeorge syndrome without 22q11 mutation.

Cosby A Stone1, Mary Louise Markert2, Roshini S Abraham3, Allison Norton4.   

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Year:  2017        PMID： 28477796      PMCID： PMC5424625          DOI： 10.1016/j.anai.2017.02.025

Source DB:  PubMed          Journal:  Ann Allergy Asthma Immunol        ISSN： 1081-1206            Impact factor:   6.347


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  10 in total

1.  Practice parameter for the diagnosis and management of primary immunodeficiency.

Authors:  Francisco A Bonilla; I Leonard Bernstein; David A Khan; Zuhair K Ballas; Javier Chinen; Michael M Frank; Lisa J Kobrynski; Arnold I Levinson; Bruce Mazer; Robert P Nelson; Jordan S Orange; John M Routes; William T Shearer; Ricardo U Sorensen
Journal:  Ann Allergy Asthma Immunol       Date:  2005-05       Impact factor: 6.347

2.  Renal abnormalities on obstetric ultrasound as a presentation of DiGeorge syndrome.

Authors:  J Goodship; S C Robson; S Sturgiss; I E Cross; C Wright
Journal:  Prenat Diagn       Date:  1997-09       Impact factor: 3.050

Review 3.  History and current status of newborn screening for severe combined immunodeficiency.

Authors:  Antonia Kwan; Jennifer M Puck
Journal:  Semin Perinatol       Date:  2015-04-30       Impact factor: 3.300

4.  Diabetes mellitus during pregnancy and the risks for specific birth defects: a population-based case-control study.

Authors:  J E Becerra; M J Khoury; J F Cordero; J D Erickson
Journal:  Pediatrics       Date:  1990-01       Impact factor: 7.124

5.  DiGeorge anomaly in the absence of chromosome 22q11.2 deletion.

Authors:  Alan F Rope; Deborah L Cragun; Howard M Saal; Robert J Hopkin
Journal:  J Pediatr       Date:  2009-10       Impact factor: 4.406

6.  DiGeorge anomaly with renal agenesis in infants of mothers with diabetes.

Authors:  T A Wilson; S L Blethen; A Vallone; D S Alenick; P Nolan; A Katz; T P Amorillo; E Goldmuntz; B S Emanuel; D A Driscoll
Journal:  Am J Med Genet       Date:  1993-11-15

7.  Primary immunodeficiencies: 2009 update.

Authors:  Luigi D Notarangelo; Alain Fischer; Raif S Geha; Jean-Laurent Casanova; Helen Chapel; Mary Ellen Conley; Charlotte Cunningham-Rundles; Amos Etzioni; Lennart Hammartröm; Shigeaki Nonoyama; Hans D Ochs; Jennifer Puck; Chaim Roifman; Reinhard Seger; Josiah Wedgwood
Journal:  J Allergy Clin Immunol       Date:  2009-12       Impact factor: 10.793

8.  Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience.

Authors:  William T Shearer; Elizabeth Dunn; Luigi D Notarangelo; Christopher C Dvorak; Jennifer M Puck; Brent R Logan; Linda M Griffith; Donald B Kohn; Richard J O'Reilly; Thomas A Fleisher; Sung-Yun Pai; Caridad A Martinez; Rebecca H Buckley; Morton J Cowan
Journal:  J Allergy Clin Immunol       Date:  2013-11-28       Impact factor: 10.793

9.  Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants.

Authors:  M Louise Markert; Blythe H Devlin; Marilyn J Alexieff; Jie Li; Elizabeth A McCarthy; Stephanie E Gupton; Ivan K Chinn; Laura P Hale; Thomas B Kepler; Min He; Marcella Sarzotti; Michael A Skinner; Henry E Rice; Jeffrey C Hoehner
Journal:  Blood       Date:  2007-02-06       Impact factor: 22.113

10.  The cutaneous manifestations of atypical complete DiGeorge syndrome: a histopathologic and immunohistochemical study.

Authors:  Maria Angelica Selim; Mary L Markert; James L Burchette; Christopher M Herman; John W Turner
Journal:  J Cutan Pathol       Date:  2008-04       Impact factor: 1.587
  10 in total
  2 in total

Review 1.  Immune-mediated adverse reactions to vaccines.

Authors:  Cosby A Stone; Christine R F Rukasin; Thomas M Beachkofsky; Elizabeth J Phillips
Journal:  Br J Clin Pharmacol       Date:  2019-11-05       Impact factor: 4.335

Review 2.  Current and Future Therapeutic Approaches for Thymic Stromal Cell Defects.

Authors:  Alexandra Y Kreins; Paola Bonfanti; E Graham Davies
Journal:  Front Immunol       Date:  2021-03-18       Impact factor: 7.561
  2 in total

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