Detalhe da pesquisa
1.
Growth in individuals with SATB2-associated syndrome.
Am J Med Genet A
; 188(10): 2952-2957, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35838081
2.
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Genet Med
; 23(2): 374-383, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33077894
3.
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
Clin Genet
; 99(4): 547-557, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33381861
4.
SATB2-associated syndrome in adolescents and adults.
Am J Med Genet A
; 185(8): 2391-2398, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33969926
5.
Mutation update for the SATB2 gene.
Hum Mutat
; 40(8): 1013-1029, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31021519
6.
Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.
Am J Med Genet A
; 167A(9): 2168-75, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25914130
7.
Using facial analysis technology in a typical genetic clinic: experience from 30 individuals from a single institution.
J Hum Genet
; 64(12): 1243-1245, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31551534
8.
Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis.
Am J Med Genet A
; 176(2): 487-491, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29160013
9.
Case Report: SATB2-Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases.
Front Genet
; 12: 692087, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34234817
10.
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
Pediatr Neurol
; 112: 94-100, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32446642
11.
Description of the first case of adenomyomatosis of the gallbladder in an infant.
Case Rep Pediatr
; 2014: 248369, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25024860
12.
A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.
Semin Pediatr Neurol
; 21(2): 84-7, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25149931