Detalhe da pesquisa
1.
Itpr1 regulates the formation of anterior eye segment tissues derived from neural crest cells.
Development
; 148(16)2021 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34338282
2.
A nationwide survey of Schaaf-Yang syndrome in Japan.
J Hum Genet
; 67(12): 735-738, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36220858
3.
Risks of ACTH therapy for West syndrome following BCG vaccination.
Epilepsy Behav
; 118: 107924, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33838621
4.
An atlas of active enhancers across human cell types and tissues.
Nature
; 507(7493): 455-461, 2014 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-24670763
5.
MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome.
J Med Genet
; 56(6): 388-395, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30573562
6.
Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate.
J Hum Genet
; 64(7): 701-702, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31028281
7.
A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy.
Am J Med Genet A
; 179(4): 645-649, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30680869
8.
A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome.
J Hum Genet
; 63(9): 957-963, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907875
9.
CTCF deletion syndrome: clinical features and epigenetic delineation.
J Med Genet
; 54(12): 836-842, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28848059
10.
Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability.
J Neurochem
; 140(1): 82-95, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27787898
11.
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
BMC Med Genet
; 18(1): 4, 2017 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-28086757
12.
A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.
J Hum Genet
; 62(9): 861-863, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28515470
13.
Batf2/Irf1 induces inflammatory responses in classically activated macrophages, lipopolysaccharides, and mycobacterial infection.
J Immunol
; 194(12): 6035-44, 2015 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25957166
14.
Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome.
Acta Paediatr
; 106(11): 1817-1824, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28695677
15.
Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.
J Pediatr
; 171: 171-7.e1-4, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26858187
16.
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
Am J Med Genet A
; 170(7): 1863-7, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27075689
17.
Identification of chromatin marks at TERRA promoter and encoding region.
Biochem Biophys Res Commun
; 467(4): 1052-7, 2015 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-26449455
18.
Anti-M Antibody Induced Prolonged Anemia Following Hemolytic Disease of the Newborn Due to Erythropoietic Suppression in 2 Siblings.
J Pediatr Hematol Oncol
; 37(6): e375-7, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25929611
19.
Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.
J Hum Genet
; 59(7): 405-7, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24830958
20.
Fulminant encephalopathy with marked brain edema and bilateral thalamic lesions.
Neuropediatrics
; 45(4): 256-60, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24338516