 DiGeorge Syndrome
"DiGeorge Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.
| Descriptor ID |
D004062
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| MeSH Number(s) |
C05.660.207.103.500 C14.240.400.021.500 C14.280.400.044.500 C15.604.451.249.500 C16.131.077.019.500 C16.131.240.400.021.500 C16.131.260.019.500 C16.131.482.249.500 C16.131.621.207.103.500 C16.320.180.019.500 C19.642.482.500.500
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| Concept/Terms |
DiGeorge Syndrome- DiGeorge Syndrome
- Syndrome, DiGeorge
- DiGeorge Sequence
- Familial Third and Fourth Pharyngeal Pouch Syndrome
- Autosomal Dominant Opitz G-Bbb Syndrome
- Autosomal Dominant Opitz G Bbb Syndrome
- Pharyngeal Pouch Syndrome
- Third and Fourth Pharyngeal Pouch Syndrome
- Thymic Aplasia Syndrome
- Catch22
- DiGeorge Anomaly
- Hypoplasia of Thymus and Parathyroids
Velocardiofacial Syndrome- Velocardiofacial Syndrome
- Syndrome, Velocardiofacial
- Sedlackova Syndrome
- Syndrome, Sedlackova
- Shprintzen Syndrome
- Syndrome, Shprintzen
- 22q11.2DS
- VCF Syndrome
- Syndrome, VCF
- Velo-Cardio-Facial Syndrome
- Syndrome, Velo-Cardio-Facial
- Velo Cardio Facial Syndrome
- Deletion 22q11.2 Syndrome
- 22q11.2 Deletion Syndrome
- Deletion Syndrome, 22q11.2
- Shprintzen VCF Syndrome
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Below are MeSH descriptors whose meaning is more general than "DiGeorge Syndrome".
Below are MeSH descriptors whose meaning is more specific than "DiGeorge Syndrome".
This graph shows the total number of publications written about "DiGeorge Syndrome" by people in this website by year, and whether "DiGeorge Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2003 | 1 | 0 | 1 | | 2004 | 2 | 0 | 2 | | 2007 | 0 | 1 | 1 | | 2008 | 1 | 1 | 2 | | 2009 | 1 | 0 | 1 | | 2010 | 1 | 0 | 1 | | 2011 | 1 | 0 | 1 | | 2012 | 1 | 0 | 1 | | 2013 | 2 | 0 | 2 | | 2015 | 1 | 0 | 1 | | 2016 | 1 | 0 | 1 | | 2017 | 3 | 0 | 3 | | 2018 | 2 | 0 | 2 | | 2019 | 3 | 1 | 4 | | 2020 | 2 | 0 | 2 | | 2024 | 2 | 0 | 2 |
To return to the timeline, click here.
Below are the most recent publications written about "DiGeorge Syndrome" by people in Profiles.
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Eom TY, Schmitt JE, Li Y, Davenport CM, Steinberg J, Bonnan A, Alam S, Ryu YS, Paul L, Hansen BS, Khairy K, Pelletier S, Pruett-Miller SM, Roalf DR, Gur RE, Emanuel BS, McDonald-McGinn DM, Smith JN, Li C, Christie JM, Northcott PA, Zakharenko SS. Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome. Nat Commun. 2024 12 05; 15(1):10510.
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Ge R, Ching CRK, Bassett AS, Kushan L, Antshel KM, van Amelsvoort T, Bakker G, Butcher NJ, Campbell LE, Chow EWC, Craig M, Crossley NA, Cunningham A, Daly E, Doherty JL, Durdle CA, Emanuel BS, Fiksinski A, Forsyth JK, Fremont W, Goodrich-Hunsaker NJ, Gudbrandsen M, Gur RE, Jalbrzikowski M, Kates WR, Lin A, Linden DEJ, McCabe KL, McDonald-McGinn D, Moss H, Murphy DG, Murphy KC, Owen MJ, Villalon-Reina JE, Repetto GM, Roalf DR, Ruparel K, Schmitt JE, Schuite-Koops S, Angkustsiri K, Sun D, Vajdi A, van den Bree M, Vorstman J, Thompson PM, Vila-Rodriguez F, Bearden CE. Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome. Hum Brain Mapp. 2024 Jan; 45(1):e26553.
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Freud LR, Galloway S, Crowley TB, Moldenhauer J, Swillen A, Breckpot J, Borrell A, Vora NL, Cuneo B, Hoffman H, Gilbert L, Nowakowska B, Geremek M, Kutkowska-Kazmierczak A, Vermeesch JR, Devriendt K, Busa T, Sigaudy S, Vigneswaran T, Simpson JM, Dungan J, Gotteiner N, Gloning KP, Digilio MC, Unolt M, Putotto C, Marino B, Repetto G, Fadic M, Garcia-Minaur S, Ach?n Buil A, Thomas MA, Fruitman D, Beecroft T, Hui PW, Oskarsdottir S, Bradshaw R, Criebaum A, Norton ME, Lee T, Geiger M, Dunnington L, Isaac J, Wilkins-Haug L, Hunter L, Izzi C, Toscano M, Ghi T, McGlynn J, Romana Grati F, Emanuel BS, Gaiser K, Gaynor JW, Goldmuntz E, McGinn DE, Schindewolf E, Tran O, Zackai EH, Yan Q, Bassett AS, Wapner R, McDonald-McGinn DM. Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age. Am J Obstet Gynecol. 2024 03; 230(3):368.e1-368.e12.
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Tcheandjieu C, Aguirre M, Gustafsson S, Saha P, Potiny P, Haendel M, Ingelsson E, Rivas MA, Priest JR. A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population. PLoS Genet. 2020 11; 16(11):e1008802.
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Ching CRK, Gutman BA, Sun D, Villalon Reina J, Ragothaman A, Isaev D, Zavaliangos-Petropulu A, Lin A, Jonas RK, Kushan L, Pacheco-Hansen L, Vajdi A, Forsyth JK, Jalbrzikowski M, Bakker G, van Amelsvoort T, Antshel KM, Fremont W, Kates WR, Campbell LE, McCabe KL, Craig MC, Daly E, Gudbrandsen M, Murphy CM, Murphy DG, Murphy KC, Fiksinski A, Koops S, Vorstman J, Crowley TB, Emanuel BS, Gur RE, McDonald-McGinn DM, Roalf DR, Ruparel K, Schmitt JE, Zackai EH, Durdle CA, Goodrich-Hunsaker NJ, Simon TJ, Bassett AS, Butcher NJ, Chow EWC, Vila-Rodriguez F, Cunningham A, Doherty J, Linden DE, Moss H, Owen MJ, van den Bree M, Crossley NA, Repetto GM, Thompson PM, Bearden CE. Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness. Am J Psychiatry. 2020 07 01; 177(7):589-600.
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Cleynen I, Engchuan W, Hestand MS, Heung T, Holleman AM, Johnston HR, Monfeuga T, McDonald-McGinn DM, Gur RE, Morrow BE, Swillen A, Vorstman JAS, Bearden CE, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, Warren ST, Owen MJ, Chopra P, Cutler DJ, Duncan R, Kotlar AV, Mulle JG, Voss AJ, Zwick ME, Diacou A, Golden A, Guo T, Lin JR, Wang T, Zhang Z, Zhao Y, Marshall C, Merico D, Jin A, Lilley B, Salmons HI, Tran O, Holmans P, Pardinas A, Walters JTR, Demaerel W, Boot E, Butcher NJ, Costain GA, Lowther C, Evers R, van Amelsvoort TAMJ, van Duin E, Vingerhoets C, Breckpot J, Devriendt K, Vergaelen E, Vogels A, Crowley TB, McGinn DE, Moss EM, Sharkus RJ, Unolt M, Zackai EH, Calkins ME, Gallagher RS, Gur RC, Tang SX, Fritsch R, Ornstein C, Repetto GM, Breetvelt E, Duijff SN, Fiksinski A, Moss H, Niarchou M, Murphy KC, Prasad SE, Daly EM, Gudbrandsen M, Murphy CM, Murphy DG, Buzzanca A, Fabio FD, Digilio MC, Pontillo M, Marino B, Vicari S, Coleman K, Cubells JF, Ousley OY, Carmel M, Gothelf D, Mekori-Domachevsky E, Michaelovsky E, Weinberger R, Weizman A, Kushan L, Jalbrzikowski M, Armando M, Eliez S, Sandini C, Schneider M, B?na FS, Antshel KM, Fremont W, Kates WR, Belzeaux R, Busa T, Philip N, Campbell LE, McCabe KL, Hooper SR, Schoch K, Shashi V, Simon TJ, Tassone F, Arango C, Fraguas D, Garc?a-Mi?a?r S, Morey-Canyelles J, Rosell J, Su?er DH, Raventos-Simic J, Epstein MP, Williams NM, Bassett AS. Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion. Mol Psychiatry. 2021 08; 26(8):4496-4510.
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McCabe KL, Popa AM, Durdle C, Amato M, Cabaral MH, Cruz J, Wong LM, Harvey D, Tartaglia N, Simon TJ. Quantifying the resolution of spatial and temporal representation in children with 22q11.2 deletion syndrome. J Neurodev Disord. 2019 12 20; 11(1):40.
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Uljarevic M, McCabe KL, Angkustsiri K, Simon TJ, Hardan AY. Interrelationship Between Cognitive Control, Anxiety, and Restricted and Repetitive Behaviors in Children with 22q11.2 Deletion Syndrome. Autism Res. 2019 12; 12(12):1737-1744.
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Villal?n-Reina JE, Mart?nez K, Qu X, Ching CRK, Nir TM, Kothapalli D, Corbin C, Sun D, Lin A, Forsyth JK, Kushan L, Vajdi A, Jalbrzikowski M, Hansen L, Jonas RK, van Amelsvoort T, Bakker G, Kates WR, Antshel KM, Fremont W, Campbell LE, McCabe KL, Daly E, Gudbrandsen M, Murphy CM, Murphy D, Craig M, Emanuel B, McDonald-McGinn DM, Vorstman JAS, Fiksinski AM, Koops S, Ruparel K, Roalf D, Gur RE, Eric Schmitt J, Simon TJ, Goodrich-Hunsaker NJ, Durdle CA, Doherty JL, Cunningham AC, van den Bree M, Linden DEJ, Owen M, Moss H, Kelly S, Donohoe G, Murphy KC, Arango C, Jahanshad N, Thompson PM, Bearden CE. Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study. Mol Psychiatry. 2020 11; 25(11):2818-2831.
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Khanna AD, Duca LM, Kay JD, Shore J, Kelly SL, Crume T. Prevalence of Mental Illness in Adolescents and Adults With Congenital Heart Disease from the Colorado Congenital Heart Defect Surveillance System. Am J Cardiol. 2019 08 15; 124(4):618-626.
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