Detalhe da pesquisa
1.
Specific temperament in patients with nevoid basal cell carcinoma syndrome.
Pediatr Int
; 63(2): 177-182, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32745364
2.
Establishment of a Gorlin syndrome model from induced neural progenitor cells exhibiting constitutive GLI1 expression and high sensitivity to inhibition by smoothened (SMO).
Lab Invest
; 100(4): 657-664, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31758086
3.
Dysregulated DNA methylation of GLA gene was associated with dysfunction of autophagy.
Mol Genet Metab
; 126(4): 460-465, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30871880
4.
MicroRNAs profiling in fibroblasts derived from patients with Gorlin syndrome.
J Hum Genet
; 64(8): 757-765, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31089267
5.
Maintenance of Xist Imprinting Depends on Chromatin Condensation State and Rnf12 Dosage in Mice.
PLoS Genet
; 12(10): e1006375, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27788132
6.
Chromatin condensation of Xist genomic loci during oogenesis in mice.
Development
; 142(23): 4049-55, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26459223
7.
Somatic mosaicism containing double mutations in PTCH1 revealed by generation of induced pluripotent stem cells from nevoid basal cell carcinoma syndrome.
J Med Genet
; 54(8): 579-584, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28363938
8.
Brain morphology in children with nevoid basal cell carcinoma syndrome.
Am J Med Genet A
; 173(4): 946-952, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328116
9.
The serine 106 residue within the N-terminal transactivation domain is crucial for Oct4 function in mice.
Zygote
; 25(2): 197-204, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28264735
10.
Spatiotemporal dynamics of OCT4 protein localization during preimplantation development in mice.
Reproduction
; 152(5): 417-30, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27495230
11.
Gorlin syndrome with an ovarian leiomyoma associated with a PTCH1 second hit.
Am J Med Genet A
; 170A(4): 1029-34, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26782978
12.
Gorlin syndrome (nevoid basal cell carcinoma syndrome): update and literature review.
Pediatr Int
; 56(5): 667-74, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25131638
13.
Role of FK506 binding protein 5 (FKBP5) in osteoclast differentiation.
Mod Rheumatol
; 23(6): 1133-9, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23263277
14.
Selective haploinsufficiency of longer isoforms of PTCH1 protein can cause nevoid basal cell carcinoma syndrome.
J Hum Genet
; 57(7): 422-6, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22572734
15.
Heterozygous tandem duplication within the PTCH1 gene results in nevoid basal cell carcinoma syndrome.
Am J Med Genet A
; 158A(7): 1724-8, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22711650
16.
Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma.
Am J Med Genet A
; 158A(2): 351-7, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22246785
17.
PTCH1-null induced pluripotent stem cells exclusively differentiate into immature ectodermal cells with large areas of medulloblastoma-like tissue.
Discov Oncol
; 13(1): 36, 2022 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35618979
18.
Blasts in transient leukaemia in neonates with Down syndrome differentiate into basophil/mast-cell and megakaryocyte lineages in vitro in association with down-regulation of truncated form of GATA1.
Br J Haematol
; 148(6): 898-909, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20064153
19.
Mirror syndrome associated with fetal transient abnormal myelopoiesis in Down syndrome.
Pathol Int
; 65(8): 443-5, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25808295
20.
Gorlin syndrome-induced pluripotent stem cells form medulloblastoma with loss of heterozygosity in PTCH1.
Aging (Albany NY)
; 12(10): 9935-9947, 2020 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32436863