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Select item 60650531.

Follicular Helper T Cells in DiGeorge Syndrome

Adam Klocperk, Zuzana Paračková, Markéta Bloomfield, Michal Rataj, Jan Pokorný, Susanne Unger, Klaus Warnatz, Anna Šedivá

Front Immunol. 2018; 9: 1730. Published online 2018 Jul 23. doi: 10.3389/fimmu.2018.01730

PMCID:: PMC6065053

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Select item 109830602.

The Outcomes of Cardiac Surgery in Children With DiGeorge Syndrome in a Single Center Experience: A Retrospective Cohort Study

Tala M AlAshgar, Norah H AlDawsari, Nasreen Y AlSanea, Noura A AlSalamah, Nada S AlSugair, Husam I Ardah, Mohamed S Kabbani

Cureus. 2024 Feb; 16(2): e55186. Published online 2024 Feb 28. doi: 10.7759/cureus.55186

PMCID:: PMC10983060

Article PDF–117K

Select item 98921613.

Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development

Peter J. Mustillo, Kathleen E. Sullivan, Ivan K. Chinn, Luigi D. Notarangelo, Elie Haddad, E. Graham Davies, Maria Teresa de la Morena, Nicholas Hartog, Joyce E. Yu, Vivian P. Hernandez-Trujillo, Winnie Ip, Jose Franco, Eleonora Gambineri, Scott E. Hickey, Elizabeth Varga, M. Louise Markert

J Clin Immunol. 2023; 43(2): 247–270. Published online 2023 Jan 17. doi: 10.1007/s10875-022-01418-y

Correction in:: J Clin Immunol. 2024; 44(2): 53.

PMCID:: PMC9892161

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Select item 42593544.

The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome

Eva Froňková, Adam Klocperk, Michael Svatoň, Michaela Nováková, Michaela Kotrová, Jana Kayserová, Tomáš Kalina, Petra Keslová, Felix Votava, Hana Vinohradská, Tomáš Freiberger, Ester Mejstříková, Jan Trka, Anna Šedivá

PLoS One. 2014; 9(12): e114514. Published online 2014 Dec 8. doi: 10.1371/journal.pone.0114514

PMCID:: PMC4259354

Article PDF–678K

Select item 32925565.

Endothelial Neuropilin Disruption in Mice Causes DiGeorge Syndrome-Like Malformations via Mechanisms Distinct to Those Caused by Loss of Tbx1

Jingjing Zhou, Mohammad Pashmforoush, Henry M. Sucov

PLoS One. 2012; 7(3): e32429. Published online 2012 Mar 2. doi: 10.1371/journal.pone.0032429

PMCID:: PMC3292556

Article PDF–676K

Select item 55597316.

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

E. Lopez-Rivera, Y.P. Liu, M. Verbitsky, B.R. Anderson, V.P. Capone, E.A. Otto, Z. Yan, A. Mitrotti, J. Martino, N.J. Steers, D.A. Fasel, K. Vukojevic, R. Deng, S.E. Racedo, Q. Liu, M. Werth, R. Westland, A. Vivante, G.S. Makar, M. Bodria, M.G. Sampson, C.E. Gillies, V. Vega-Warner, M. Maiorana, D.S. Petrey, B. Honig, V.J. Lozanovski, R. Salomon, L. Heidet, W. Carpentier, D. Gaillard, A. Carrea, L. Gesualdo, D. Cusi, C. Izzi, F. Scolari, J.A.E. van Wijk, A. Arapovic, M. Saraga-Babic, M. Saraga, N. Kunac, A. Samii, D.M. McDonald-McGinn, T.B. Crowley, E.H. Zackai, D. Drozdz, M. Miklaszewska, M. Tkaczyk, P. Sikora, M. Szczepanska, M. Mizerska-Wasiak, G. Krzemien, A. Szmigielska, M. Zaniew, J.M. Darlow, P. Puri, D. Barton, E. Casolari, S.L. Furth, B.A. Warady, Z. Gucev, H. Hakonarson, H. Flogelova, V. Tasic, A. Latos-Bielenska, A. Materna-Kiryluk, L. Allegri, C.S. Wong, I.A. Drummond, V. D’Agati, A. Imamoto, J.M. Barasch, F. Hildebrandt, K. Kiryluk, R.P. Lifton, B.E. Morrow, C. Jeanpierre, V.E. Papaioannou, G.M. Ghiggeri, A.G. Gharavi, N. Katsanis, S. Sanna-Cherchi

N Engl J Med. Author manuscript; available in PMC 2017 Aug 17.

Published in final edited form as: N Engl J Med. 2017 Feb 23; 376(8): 742–754. Published online 2017 Jan 25. doi: 10.1056/NEJMoa1609009

PMCID:: PMC5559731

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Select item 59169747.

DiGeorge syndrome: Relevance of psychiatric symptoms in undiagnosed adult patients

Christoph Kraus, Thomas Vanicek, Ana Weidenauer, Tav Khanaqa, Mara Stamenkovic, Rupert Lanzenberger, Matthäus Willeit, Siegfried Kasper

Wien Klin Wochenschr. 2018; 130(7): 283–287. Published online 2018 Apr 18. doi: 10.1007/s00508-018-1335-y

PMCID:: PMC5916974

Article PDF–327K

Select item 70464118.

Unexpected combination: DiGeorge syndrome and myeloperoxidase deficiency

Simona Abraitytė, Elisabeth Kotsi, Lisa Anne Devlin, John David Moore Edgar

BMJ Case Rep. 2020; 13(2): e232741. Published online 2020 Feb 26. doi: 10.1136/bcr-2019-232741

PMCID:: PMC7046411

Article PDF–170K

Select item 21895579.

Human T Cell Reconstitution in DiGeorge Syndrome and HIV-1 Infection

Lori L. Hudson, M. Louise Markert, Blythe H. Devlin, Barton F. Haynes, Gregory D. Sempowski

Semin Immunol. Author manuscript; available in PMC 2008 Oct 1.

Published in final edited form as: Semin Immunol. 2007 Oct; 19(5): 297–309. Published online 2007 Nov 26. doi: 10.1016/j.smim.2007.10.002

PMCID:: PMC2189557

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Select item 275894910.

Fish based preimplantation genetic diagnosis to prevent DiGeorge syndrome

Shai Shefi, Gil Raviv, Shlomit Rienstein, Gad Barkai, Ayala Aviram-Goldring, Jacob Levron

J Assist Reprod Genet. 2009 Jul; 26(7): 411–413. Published online 2009 Aug 13. doi: 10.1007/s10815-009-9334-6

PMCID:: PMC2758949

Article PDF–104K

Select item 300958611.

Uveitis in DiGeorge syndrome: a case of autoimmune ocular inflammation in a patient with deletion 22q11.2

Chloe Gottlieb, Zhuqing Li, Gulbu Uzel, Robert B Nussenblatt, H Nida Sen

Ophthalmic Genet. Author manuscript; available in PMC 2010 Dec 23.

Published in final edited form as: Ophthalmic Genet. 2010 Mar; 31(1): 24–29. doi: 10.3109/13816810903426249

PMCID:: PMC3009586

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Select item 311944812.

Case Report: Two Patients with Partial DiGeorge Syndrome Presenting with Attention Disorder and Learning Difficulties

Bülent Hacıhamdioğlu, Merih Berberoğlu, Zeynep Şıklar, Figen Doğu, Pelin Bilir, Şenay Savaş Erdeve, Aydan İkincioğulları, Gönül Öçal

J Clin Res Pediatr Endocrinol. 2011 Jun; 3(2): 95–97. Published online 2011 Jun 8. doi: 10.4274/jcrpe.v3i2.19

PMCID:: PMC3119448

Article PDF–466K

Select item 190567913.

T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome

M Pierdominici, M Marziali, A Giovannetti, A Oliva, R Rosso, B Marino, M C Digilio, A Giannotti, G Novelli, B Dallapiccola, F Aiuti, F Pandolfi

Clin Exp Immunol. 2000 Jul; 121(1): 127–132. doi: 10.1046/j.1365-2249.2000.01247.x

PMCID:: PMC1905679

Article PDF–97K

Select item 494434314.

“FISHed” out the diagnosis: A case of DiGeorge syndrome

S Bajaj, TS Thombare, MS Tullu, M Agrawal

J Postgrad Med. 2016 Apr-Jun; 62(2): 118–123. doi: 10.4103/0022-3859.167730

PMCID:: PMC4944343

Article

Select item 811746215.

Late diagnosed DiGeorge syndrome in a 44-year-old female: a rare cause for recurrent syncopes in adulthood—a case report

Khuraman Isgandarova, Stephan Molatta, Philipp Sommer

Eur Heart J Case Rep. 2021 May; 5(5): ytab166. Published online 2021 May 12. doi: 10.1093/ehjcr/ytab166

PMCID:: PMC8117462

Article PDF–996K

Select item 267524916.

Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11·2 microdeletion and partial DiGeorge syndrome

P Eberle, C Berger, S Junge, S Dougoud, E Valsangiacomo Büchel, M Riegel, A Schinzel, R Seger, T Güngör

Clin Exp Immunol. 2009 Feb; 155(2): 189–198. doi: 10.1111/j.1365-2249.2008.03809.x

PMCID:: PMC2675249

Article PDF–236K

Select item 655363217.

Characteristics and outcomes of heart transplantation in DiGeorge syndrome

Peter Woolman, David W. Bearl, Jonathan H. Soslow, Debra A. Dodd, Cary Thurm, Matt Hall, Brian Feingold, Justin Godown

Pediatr Cardiol. Author manuscript; available in PMC 2020 Apr 1.

Published in final edited form as: Pediatr Cardiol. 2019 Apr; 40(4): 768–775. Published online 2019 Feb 7. doi: 10.1007/s00246-019-02063-w

PMCID:: PMC6553632

Article PDF–716K

Select item 283532918.

β-catenin deficiency causes DiGeorge syndrome-like phenotypes through regulation of Tbx1

Sung-Ho Huh, David M. Ornitz

Development. 2010 Apr 1; 137(7): 1137–1147. doi: 10.1242/dev.045534

PMCID:: PMC2835329

Article

Select item 438175519.

Loss of Wnt5a disrupts second heart field cell deployment and may contribute to OFT malformations in DiGeorge syndrome

Tanvi Sinha, Ding Li, Magali Théveniau-Ruissy, Mary R. Hutson, Robert G. Kelly, Jianbo Wang

Hum Mol Genet. 2015 Mar 15; 24(6): 1704–1716. Published online 2014 Nov 19. doi: 10.1093/hmg/ddu584

PMCID:: PMC4381755

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Select item 996544820.

Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome

Michela Menghi, Ginevra Micangeli, Francesca Tarani, Carolina Putotto, Federica Pirro, Alessandro Mariani, Carla Petrella, Federica Pulvirenti, Bianca Cinicola, Fiorenza Colloridi, Luigi Tarani, Marco Fiore

Int J Mol Sci. 2023 Feb; 24(4): 4242. Published online 2023 Feb 20. doi: 10.3390/ijms24044242

PMCID:: PMC9965448

Article PDF–1.6M

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PMC Images search for DiGeorge Syndrome

Fig. 1

Psychiatric comorbidities in patients with DiGeorge Syndrome.

Psychiatric Comorbidities in Adults with DiGeorge Syndrome

Clin Psychopharmacol Neurosci. 2022 Aug 31;20(3):498-503.
Figure 1.

Post-transplant survival in patients with and without DiGeorge syndrome

Characteristics and outcomes of heart transplantation in DiGeorge syndrome

Pediatr Cardiol. ;40(4):768-775.
Figure 4.

Freedom from rejection in patients with and without DiGeorge syndrome.

Characteristics and outcomes of heart transplantation in DiGeorge syndrome

Pediatr Cardiol. ;40(4):768-775.
Figure 3.

Freedom from hospitalization for infection in patients with and without DiGeorge syndrome

Characteristics and outcomes of heart transplantation in DiGeorge syndrome

Pediatr Cardiol. ;40(4):768-775.