Detalhe da pesquisa
1.
Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26.
Blood
; 141(13): 1533-1543, 2023 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36626254
2.
GATA2 deficiency syndrome: A decade of discovery.
Hum Mutat
; 42(11): 1399-1421, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387894
3.
Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα).
Hum Mol Genet
; 26(11): 2042-2052, 2017 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334947
4.
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.
Hum Mutat
; 39(8): 1126-1138, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29851191
5.
PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy.
Neurobiol Dis
; 116: 106-119, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29763708
6.
Robust imaging and gene delivery to study human lymphoblastoid cell lines.
J Hum Genet
; 63(9): 945-955, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29925960
7.
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.
Am J Hum Genet
; 94(3): 470-8, 2014 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24607389
8.
The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.
Haematologica
; 106(11): 3004-3007, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34233450
9.
The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth.
Hum Mol Genet
; 22(23): 4673-87, 2013 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23821644
10.
Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy.
Front Oncol
; 13: 1183318, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37377909
11.
Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.
Blood Adv
; 7(4): 549-554, 2023 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36001442
12.
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Blood Adv
; 7(20): 6092-6107, 2023 10 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37406166
13.
Disrupted Excitatory Synaptic Contacts and Altered Neuronal Network Activity Underpins the Neurological Phenotype in PCDH19-Clustering Epilepsy (PCDH19-CE).
Mol Neurobiol
; 58(5): 2005-2018, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33411240
14.
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
Blood Adv
; 4(6): 1131-1144, 2020 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32208489
15.
Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females.
Life Sci Alliance
; 2(4)2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31439632
16.
Clonal hematopoiesis in patients with ANKRD26 or ETV6 germline mutations.
Blood Adv
; 6(15): 4357-4359, 2022 08 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35537115
17.
Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice.
Sci Rep
; 6: 26765, 2016 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-27240640
18.
Zinc and zinc transporters in macrophages and their roles in efferocytosis in COPD.
PLoS One
; 9(10): e110056, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25350745