Results 81 to 90 of about 1,354,450 (122)

The Hidden Architecture of Brain Structural Variability in 22q11.2 Deletion Syndrome: A Multi-site Study

Boen R, O’Hora KP, Fung H, Kushan L, Schleifer CH, Dietterich TE, Amir CM, Klein S, Kang JW, Wang HR, Hughes DE, Villalon-Reina JE, Kang MJ, Im Y, Kumar K, Alnæs D, Angkustsiri K, Antshel KM, Bakker G, Bassett AS, Butcher NJ, Campbell LE, Chawner SJ, Chow EW, Craig MC, Crossley NA, Daly E, Fabio FD, Doherty JL, Emanuel BS, Fiksinski AM, Forsyth JK, Frascarelli M, Fremont WP, Gudbrandsen M, Gur RE, Hallmayer JF, Jalbrzikowski M, Kates WR, Linden DE, McCabe KL, McDonald-McGinn DM, Murphy D, Murphy KC, O’Hara R, Owen MJ, Reiss AL, Repetto GM, Roalf DR, Ruparel K, Eric Schmitt J, Sievertsen SA, Simon TJ, Trevorrow ZH, van Amelsvoort T, van den Bree MB, Vorstman JA, Zackai EH, Ching CR, Thompson PM, Bearden CE, the ENIGMA-22q Working Group.   +61 more
europepmc   +1 more source

Navigating Services in the UK: The Lived Experiences of Families Affected by 22q11.2 Deletion Syndrome. [PDF]

Behav Sci (Basel)
Gudbrandsen M, Edmonds S, Jayman M.
europepmc   +1 more source

Follicular Helper T Cells and B Cell Maturation in Patients with 22q11.2 Deletion Syndrome and Recurrent Infections. [PDF]

J Clin Immunol
Alsaati N, Beigel K, Maurer K, Henrickson SE, Knight M, Green A, Giunta V, McGinn DE, Wang B, Crowley TB, McDonald-McGinn DM, Sullivan KE.   +11 more
europepmc   +1 more source

TANGO2-related metabolic encephalopathy-arrhythmia syndrome unmasked in 22q11.2 deletion syndrome: hemizygous pathogenic variant, complex phenotype modified by two genetic conditions, and implications for proactive crisis prevention: a case report. [PDF]

BMC Pediatr
Grzywna-Rozenek E, Sędek Ł, Rydzanicz M, Borys-Iwanicka A, Płoski R, Szczepańska M, Brawańska-Maśluch K, Śmigiel R.   +7 more
europepmc   +1 more source

B cells, autoimmunity, and innate immunity in 22q11.2 deletion syndrome: a two-center study and review of the literature. [PDF]

Cent Eur J Immunol
Topyildiz E, Boluk SO, Baş I, Ulgen E, Gulez N, Karaca NE, Genel F, Aksu G, Kutukculer N.   +8 more
europepmc   +1 more source

Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant. [PDF]

Genes (Basel)
Pimenta LSE, Mello CB, Polanczyk GV, Kulikowski LD, Melaragno MI, Kim CA.   +5 more
europepmc   +1 more source

Congenital heart disease in 22q11.2 deletion syndrome: a meta-analysis and systematic review of the literature. [PDF]

J Med Genet
Sauter C, Hofbeck M, Franz P, Kettenstock L, Steger K, Linhardt M, Reiter A, Störk S, Romanos M, Radtke F.   +9 more
europepmc   +1 more source

Age-Related Dysphagia Among Children with 22q11.2-Deletion Syndrome. [PDF]

Cleft Palate Craniofac J
Teplitzky TB, Kline NL, Brown AF, Trevino K, Wilson C, Van't Slot C, Kou YF, Johnson RF, Chorney SR.   +8 more
europepmc   +1 more source

Urinary metabolomic profiling in 22q11.2 deletion syndrome reveals microbial and mitochondrial signatures related to autism and psychosis risk. [PDF]

PCN Rep
Minami T, Ikegame T, Tanaka M, Kumagai E, Kanehara A, Morishima R, Kumakura Y, Okochi N, Hamada J, Ogawa T, Tamune H, Kano Y, Jinde S, Kasai K.   +13 more
europepmc   +1 more source

Medical challenges and unmet needs of individuals with 22q11.2 deletion syndrome as perceived by caregivers: A thematic analysis and natural language processing-based thematic extraction. [PDF]

PLOS Ment Health
Sawai Y, Tanaka M, Tonsho S, Uno A, Takahashi Y, Kanehara A, Kumakura Y, Yaghishita S, Kasai K.   +8 more
europepmc   +1 more source