Results 71 to 80 of about 1,354,450 (122)

22q11.2 Deletion Syndrome, Oral-Maxillo-Facial Manifestations and Cognitive Functioning: Three Illustrative Case Reports. [PDF]

Children (Basel)
Sardella D, De Giacomo A, Ricci A, Limongelli L, Corsalini M.   +4 more
europepmc   +1 more source

Genetic Mapping of the 22q11.2 Deletion Syndrome (DiGeorge Syndrome) Microdeletion Types Revealed Novel Candidate Breakpoints. [PDF]

Genes (Basel)
Papageorgiou L, Nikolopoulou E, Koniari E, Hatziagapiou K, Chaniotis D, Beloukas A, Chrousos GP, Eliopoulos E, Thireou T.   +8 more
europepmc   +1 more source

From DGCR8 expression analysis to diseased pathways in 22q11.2 deletion syndrome. [PDF]

Front Immunol
Boz V, Di Rosa M, Pin A, De Martino E, Faletra F, Baldo F, Magnolato A, Valencic E.   +7 more
europepmc   +1 more source

22q11.2 Deletion Syndrome in Offspring Conceived via Assisted Reproductive Technology Versus Spontaneously. [PDF]

Genes (Basel)
Borowka J, Crowley TB, Mani A, Guinta V, McGinn DE, Wang B, Green A, Rockart L, Tran O, Emanuel BS, Zackai EH, Dugoff L, Valverde K, McDonald-McGinn DM.   +13 more
europepmc   +1 more source

Different Diagnoses, Common Ancestry: 22q11.2 Deletion Syndrome and Wiskott-Aldrich Syndrome in the Same Family. [PDF]

Mol Syndromol
Bobreshova A, Efimova I, Mukhina A, Bogdanova D, Ogneva A, Yukhacheva D, Markova Z, Pershin D, Rodina Y, Balinova N, Raykina E, Zhavoronok D, Seitova G, Orlov D, Drozdov G, Sermyagina I, Zinchenko R, Shilova N, Polyakov A, Voronin S, Shcherbina A, Kutsev S, Marakhonov A.   +22 more
europepmc   +1 more source

The Neuropsychiatry of 22q11.2 Deletion Syndrome: An Electronic Health Records Study

Watson CJ, Rogdaki M, Lynch-Kelly K, Hafeez D, Eilon T, Linden D, Walters JT, Vassos E, Edwards M, Pollak TA.   +9 more
europepmc   +1 more source

Divergent transcriptomic pathways underlie sex-biased cognitive rescue by developmental GSK3B inhibition in a mouse model of 22q11.2 deletion syndrome. [PDF]

Transl Psychiatry
Passecker J, Chang CY, Dagunts A, Aloimonos CM, Leitner L, Petryk A, Wagner FF, Myroshnychenko MV, Kupferschmidt DA, Gogos JA, Gordon JA.   +10 more
europepmc   +1 more source

Understanding obesity in children with 22q11.2 deletion syndrome. [PDF]

Front Endocrinol (Lausanne)
Sarli WM, Cerutti M, Pontone M, Guarnieri V, Soldovieri S, Giotta M, Ricci S, Azzari C, Stagi S.   +8 more
europepmc   +1 more source

Integrated multiomics profiling of amniotic fluid exosomes reveals dysregulated lipid and protein signatures in fetal 22q11.2 deletion syndrome. [PDF]

Hum Genomics
Xiao H, Li T, Zhang M, Lv X, Gao Y, Guo Q, Guo Z, Wang H, Guo L, Liu H, Liao S, Wu D.   +11 more
europepmc   +1 more source