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Significant improvement of cardiac outflow tract septation defects in a DiGeorge syndrome model after minoxidil treatment.

Biochem Biophys Res Commun
Aurigemma I, Ferrentino R, Krishnan VP, Lanzetta O, Angelini C, Illingworth E, Baldini A.   +6 more
europepmc   +1 more source

Cardiac Outflow tract septation defects in a DiGeorge syndrome model respond to Minoxidil treatment

Aurigemma I, Ferrentino R, Krishnan VP, Lanzetta O, Angelini C, Illingworth E, Baldini A.   +6 more
europepmc   +1 more source

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The spectrum of the DiGeorge syndrome

The Journal of Pediatrics, 1979
Clinical and autopsy data on 25 patients with DiGeorge syndrome and its variants are presented. Congenital heart disease was the most common presenting complaint; 15 patients came to medical attention in the first 48 hours of life because of cyanosis, cardiac murmurs, or tachycardia and tachypnea.
M E, Conley, J B, Beckwith, J F, Mancer, L, Tenckhoff   +3 more
openaire   +2 more sources

DiGeorge Syndrome

2013
© 2013 Elsevier Inc. All rights reserved. In 1965, DiGeorge recognized the association of hypocalcemia secondary to parathyroid hypoplasia and the absence of the thymus. As additional cases were reported, it became clear that cardiovascular malformations and facial dysmorphism were often present as well.
Aaron Stabel, Kimberly Kroeger-Geoppinger, Jennifer McCullagh, Deborah Weiss, Jennifer McCullagh, Naomi Schneider, Diana B. Newman, Winifred Schultz-Krohn, Fred R. Volkmar, Tara J. Glennon, Sarita Austin, Vince Winterling, Elizabeth Spencer, Claudia Califano, Robin Hansen, Paul El-Fishawy, Lawrence David Scahill, Oren Shtayermman, Betsey A. Benson, Whitney T. Brooks, Jessica L. Roesser, John T. Danial, C. Enjey Lin, Jeffrey J. Wood, Lawrence David Scahill, Dawn Wimpory, Susan Latham, Annette Karmiloff-Smith, Joyce Lum, Kristin Hodgson, Fred R. Volkmar, Michelle Lestrud, Isabelle Rapin, Amanda C. Gulsrud, Connie Kasari, Jennifer S. Beighley, Johnny L. Matson, Serena Wieder, Ilene Sharon Schwartz, Bonnie McBride, Sima Gerber, Evdokia Anagnostou, Deepali Mankad, Evdokia Anagnostou, Deepali Mankad, Fred R. Volkmar, Christina Corsello, Susan Leekam, Ann S. LeCouteur, Thomas P. Berney, Steve Kanne, Johnny Matson, Julie Worley, Paul Shattuck, Rizwan Parvez, Jennifer McCullagh, Sarita Austin, Celine A. Saulnier, Thomas Zane, Thomas Zane, Thomas Zane, Cheryl Davis, Thomas Zane, Cheryl Davis, Roger J. Jou, Lawrence H. Staib, Andrew Pickles, Robert LaRue, Marc Woodbury-Smith, Alvi Azad, Rebecca DeAquair, Anne Holmes, Tina Newman, Michael Miklos, Sarita Austin, Tobi Gilbert, Jonathan Sliva, Rebecca Munday, Paul El-Fishawy, Kevin A. Pelphrey, Carolyn A. Doyle, Christopher J. McDougle, Lawrence David Scahill, Lara Delmolino, Sandra Harris, Fred R. Volkmar, Fred R. Volkmar, Fred R. Volkmar, Fred R. Volkmar, Fred R. Volkmar, Kristin Ruedel, Amy Donaldson, Allison Bean, Diana B. Newman, Diana B. Newman, Moira Lewis, Micaela Violette, Susan Latham, Claudia Califano   +98 more
  +5 more sources

DiGeorge syndrome: an update

Current Opinion in Cardiology, 2004
This article is an update on DiGeorge syndrome research focusing on the synergy of human and model systems genetics toward the understanding of conotruncal and aortic arch defects.The identification of mutations of the human T-Box1 (TBX1) gene and progress on research of Tbx1 function in mouse development demonstrate the pathogenetic role of this gene ...
openaire   +3 more sources