Results 141 to 150 of about 8,343 (220)

Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome. [PDF]

Mol Cell Pediatr
Szumutku F, Lengyel A, Pinti É, Kun I, Németh K, Abonyi T, Gál F, Ryu SW, Song Y, Ujfalusi A, Kádár K, Jávorszky E, Tory K, Kis É, Goda V, Kriván G, Kovács ÁF, Haltrich I.   +17 more
europepmc   +1 more source

HLH and spinal neurofibroma: a single case report in a patient with DiGeorge syndrome. [PDF]

Front Oncol
Tallone R, Micalizzi C, Faraci M, De Marco P, Capra V, Beccaria A, Livellara V, Arkhangelskaya E, Ramaglia A, Ronchetto P, Ognibene M, Bono M, Muraca M, Vellone VG, Rebuffi C, Marcenaro S, Pelanconi L, Haupt R, Dufour C, Strati MF, Merlo S.   +20 more
europepmc   +1 more source

Genetic and epigenetic markers in the METTL21C gene associated with umbilical hernia in pigs. [PDF]

BMC Genomics
Wozniak J, Szabelska-Beresewicz A, Zyprych-Walczak J, Niemyjski R, Dudek K, Stachowiak M, Nowacka-Woszuk J.   +6 more
europepmc   +1 more source

Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication [PDF]

, 2014

core   +1 more source

T-Box Transcription Factor TBX1 [PDF]

, 2020
openaire   +1 more source

Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9⁺ chondrocyte expansion. [PDF]

J Hum Immun
Bhalla P, Ahuja N, Kumar A, Xing C, Moses A, Shukla A, Boetel K, Evers BM, Shelton JM, de la Morena MT, Wysocki CA, Cleaver OB, van Oers NSC.   +12 more
europepmc   +1 more source

Epstein-Barr virus (EBV) -related Hodgkin lymphoma in a 1-year-old child with DiGeorge syndrome. [PDF]

BMC Pediatr
Rao Z, Wang H, Chen S, Yang Y, Liu H, Ma C, Zhou J, Ye Z.   +7 more
europepmc   +1 more source

Foxc1 regulates Pecam-1 Expression in embryonic Endothelial Progenitor Cells [PDF]

, 2008
Lamparter, Mathias
core  

Ripply3 overdosage induces mid-face shortening through Tbx1 downregulation in Down syndrome models. [PDF]

PLoS Genet
Ahumada Saavedra JT, Chevalier C, Bloch Zupan A, Herault Y.   +3 more
europepmc   +1 more source

Molecular insights into heart field-specific cardiomyocyte differentiation - A computational study. [PDF]

PLoS One
Zeegelaar R, Argyris G, Post JN.
europepmc   +1 more source