Detalhe da pesquisa
1.
Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.
Am J Hum Genet
; 105(3): 625-630, 2019 09 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31303264
2.
DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Genet Med
; 23(1): 149-154, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32873933
3.
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
Am J Hum Genet
; 101(5): 856-865, 2017 Nov 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29100095
4.
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
Am J Hum Genet
; 100(1): 91-104, 2017 Jan 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27939640
5.
Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Genet Med
; 23(1): 237, 2021 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-32934366
6.
NPAS3 demonstrates features of a tumor suppressive role in driving the progression of Astrocytomas.
Am J Pathol
; 179(1): 462-76, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21703424
7.
Advances in molecular targets for the treatment of medulloblastomas.
Clin Invest Med
; 35(5): E246, 2012 Oct 06.
Artigo
Inglês
| MEDLINE | ID: mdl-23043706
8.
Translational applications of microRNA genes in medulloblastomas.
Clin Invest Med
; 33(4): E223-33, 2010 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-20691140
9.
Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the ATP6V1B2 Gene.
Front Neurol
; 11: 767, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32849222
10.
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.
Eur J Hum Genet
; 26(3): 340-349, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29330547
11.
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Neurology
; 87(1): 77-85, 2016 07 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27281533
12.
The microtubule binding drug EM011 inhibits the growth of paediatric low grade gliomas.
Cancer Lett
; 335(1): 109-18, 2013 Jul 10.
Artigo
Inglês
| MEDLINE | ID: mdl-23402815
13.
Investigation of Targetin, a Microtubule Binding Agent which Regresses the Growth of Pediatric High and Low Grade Gliomas.
J Pediatr Oncol
; 1: 32-40, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-24749125
14.
In-Vitro and Ex-Vivo Investigations of the Microtubule Binding Drug Targetin on Angiogenesis.
J Pediatr Oncol
; 1: 41-47, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-24749126