Detalhe da pesquisa
1.
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
Mol Cell
; 81(22): 4663-4676.e8, 2021 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34637754
2.
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Am J Hum Genet
; 110(4): 681-690, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36996813
3.
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
Mol Cell
; 81(22): 4757, 2021 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34798045
4.
Formation of new chromatin domains determines pathogenicity of genomic duplications.
Nature
; 538(7624): 265-269, 2016 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27706140
5.
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
Neurogenetics
; 22(1): 19-25, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32816121
6.
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Hum Genet
; 140(4): 625-647, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33337535
7.
Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23).
J Hum Genet
; 65(12): 1135-1141, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32651480
8.
Alazami syndrome: the first case of papillary thyroid carcinoma.
J Hum Genet
; 65(2): 133-141, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31656314
9.
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.
Am J Med Genet A
; 182(12): 2877-2886, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33043602
10.
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts.
Proc Natl Acad Sci U S A
; 114(4): E514-E523, 2017 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-28069966
11.
Small supernumerary marker chromosomes: A legacy of trisomy rescue?
Hum Mutat
; 40(2): 193-200, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30412329
12.
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).
J Med Genet
; 55(4): 269-277, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29378768
13.
De novo unbalanced translocations have a complex history/aetiology.
Hum Genet
; 137(10): 817-829, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30276538
14.
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.
J Pathol
; 243(1): 9-15, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28608987
15.
A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype.
Genes Chromosomes Cancer
; 56(12): 846-854, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28791770
16.
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.
Hum Mutat
; 38(3): 260-264, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27805744
17.
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.
N Engl J Med
; 370(11): 1019-28, 2014 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-24571724
18.
Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.
Blood Cells Mol Dis
; 64: 38-44, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28376382
19.
A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients.
BMC Med Genet
; 18(1): 147, 2017 12 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-29237418
20.
Developmental trends of communicative skills in children with chromosome 14 aberrations.
Eur J Pediatr
; 176(4): 455-464, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28124115