Detalhe da pesquisa
1.
The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects.
Hum Mutat
; 43(9): 1125-1148, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35451537
2.
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.
Hum Mutat
; 43(10): 1443-1453, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35801529
3.
Pseudodicentric Chromosome Originating from an X-Autosome Translocation in a Male Patient with Cryptozoospermia.
Cytogenet Genome Res
; 162(3): 124-131, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35609520
4.
Comprehensive study of nine novel cases of TFEB-amplified renal cell carcinoma: an aggressive tumour with frequent PDL1 expression.
Histopathology
; 81(2): 228-238, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35562857
5.
Multicolor-FISH Characterization of a Prenatal Mosaicism for a Chromosomal Rearrangement Undetected by Molecular Cytogenetics.
Cytogenet Genome Res
; 161(3-4): 143-152, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33827072
6.
[Renal carcinoma with leiomyomatous stroma and osseous metaplasia from a patient diagnosed with a tuberous sclerosis complex]. / Carcinome rénal à stroma léiomyomateux avec métaplasie osseuse chez un patient porteur d'une sclérose tubéreuse de Bourneville.
Ann Pathol
; 41(6): 557-560, 2021 Nov.
Artigo
em Francês
| MEDLINE | ID: mdl-34629215
7.
STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.
Mol Hum Reprod
; 26(9): 665-677, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32634216
8.
Immunotherapy in Renal Cell Carcinoma: The Future Is Now.
Int J Mol Sci
; 21(7)2020 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32260578
9.
Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia.
Cytogenet Genome Res
; 159(4): 201-207, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31865337
10.
Targeting the PD-1/PD-L1 Pathway in Renal Cell Carcinoma.
Int J Mol Sci
; 20(7)2019 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30987368
11.
22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency.
J Hum Genet
; 63(5): 691-698, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29540854
12.
Independent association of PD-L1 expression with noninactivated VHL clear cell renal cell carcinoma-A finding with therapeutic potential.
Int J Cancer
; 140(1): 142-148, 2017 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27623354
13.
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.
Am J Med Genet A
; 167(6): 1252-61, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25847481
14.
Automation of ALK gene rearrangement testing with fluorescence in situ hybridization (FISH): a feasibility study.
Exp Mol Pathol
; 98(1): 113-8, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25576649
15.
All anti-vascular endothelial growth factor drugs can induce 'pre-eclampsia-like syndrome': a RARe study.
Nephrol Dial Transplant
; 29(2): 325-32, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24302609
16.
Immunity of human epithelial ovarian carcinoma: the paradigm of immune suppression in cancer.
J Transl Med
; 11: 147, 2013 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-23763830
17.
Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing.
Genes (Basel)
; 14(2)2023 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833200
18.
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.
Eur J Hum Genet
; 31(4): 453-460, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36450801
19.
Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient.
CRISPR J
; 6(1): 17-31, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36629845
20.
Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases.
Eur J Med Genet
; 65(2): 104422, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35026468