Detalhe da pesquisa
1.
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.
J Med Genet
; 57(11): 760-768, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32170002
2.
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Hum Mol Genet
; 27(21): 3651-3668, 2018 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30107592
3.
TRIM50 regulates Beclin 1 proautophagic activity.
Biochim Biophys Acta Mol Cell Res
; 1865(6): 908-919, 2018 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-29604308
4.
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Am J Hum Genet
; 99(3): 704-710, 2016 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27523599
5.
The epileptology of GNB5 encephalopathy.
Epilepsia
; 60(11): e121-e127, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31631344
6.
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
Int J Mol Sci
; 19(1)2017 Dec 28.
Artigo
Inglês
| MEDLINE | ID: mdl-29283410
7.
A novel MED12 mutation: Evidence for a fourth phenotype.
Am J Med Genet A
; 170(9): 2377-82, 2016 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27312080
8.
Anti Proliferative and Pro Apoptotic Effects of Flavonoid Quercetin Are Mediated by CB1 Receptor in Human Colon Cancer Cell Lines.
J Cell Physiol
; 230(12): 2973-80, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25893829
9.
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Am J Hum Genet
; 99(3): 786, 2016 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27588455
10.
Loss of Function of the Gene Encoding the Histone Methyltransferase KMT2D Leads to Deregulation of Mitochondrial Respiration.
Cells
; 9(7)2020 07 13.
Artigo
Inglês
| MEDLINE | ID: mdl-32668765
11.
The Emerging Role of Gß Subunits in Human Genetic Diseases.
Cells
; 8(12)2019 12 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31817184
12.
Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line.
Stem Cell Res
; 40: 101547, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31479876
13.
Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication.
Sci Adv
; 5(12): eaaw7908, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31840056
14.
A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient.
Front Genet
; 9: 626, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30631341
15.
A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.
J Pediatr Genet
; 6(2): 98-102, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-28496997