Detalhe da pesquisa
1.
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
Hum Mol Genet
; 29(11): 1900-1921, 2020 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196547
2.
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.
Am J Med Genet A
; 188(6): 1915-1927, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266292
3.
Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants.
Am J Med Genet A
; 185(9): 2829-2845, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34056834
4.
Bilateral Nephroblastic Tumors and a Complex Renal Vascular Anomaly in a Patient With a Mosaic RASopathy: Novel Histopathologic Features and Molecular Insights.
Pediatr Dev Pathol
; 24(3): 235-240, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33538228
5.
Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families.
Am J Med Genet A
; 182(12): 3040-3047, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33026187
6.
Mechanical stretch upregulates connexin43 in human trabecular meshwork cells.
Clin Exp Ophthalmol
; 47(6): 787-794, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30816600
7.
Isolated Horner Syndrome From an Elongated Styloid Process (Eagle Syndrome).
J Neuroophthalmol
; 35(4): 387-9, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25996302
8.
Transiently elevated plasma methionine, S-adenosylmethionine and S-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation.
JIMD Rep
; 49(1): 21-29, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31497478
9.
An ACSL4 Hemizygous Intragenic Deletion in a Patient With Childhood Stroke.
Pediatr Neurol
; 100: 100-101, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31481330