Detalhe da pesquisa
1.
Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome.
Hum Mol Genet
; 27(11): 1847-1857, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29509905
2.
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.
Hum Mol Genet
; 27(7): 1150-1163, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29361080
3.
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
N Engl J Med
; 376(8): 742-754, 2017 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28121514
4.
Defining Risk of Postoperative Obstructive Sleep Apnea in Patients With 22q11.2DS Undergoing Pharyngeal Flap Surgery for Velopharyngeal Dysfunction Using Polysomnographic Evaluation.
Cleft Palate Craniofac J
; 57(7): 808-818, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31973553
5.
Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome.
Am J Med Genet A
; 179(3): 381-385, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30582277
6.
22q and two: 22q11.2 deletion syndrome and coexisting conditions.
Am J Med Genet A
; 176(10): 2203-2214, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30244528
7.
Club foot in association with the 22q11.2 deletion syndrome: An observational study.
Am J Med Genet A
; 176(10): 2135-2139, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30380189
8.
Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review.
Am J Med Genet A
; 176(10): 2104-2120, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29159873
9.
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.
Am J Med Genet A
; 176(10): 2172-2181, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30289625
10.
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.
Pediatrics
; 150(1)2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35642503
11.
22q11.2 Deletion Syndrome as a Human Model for Idiopathic Scoliosis.
J Clin Med
; 10(21)2021 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34768342
12.
Scoliosis in association with the 22q11.2 deletion syndrome: an observational study.
Arch Dis Child
; 104(1): 19-24, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29627765