Detalhe da pesquisa
1.
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
J Med Genet
; 2024 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38849204
2.
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Am J Med Genet A
; 191(2): 445-458, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36369750
3.
Comparison of arterial wall integration of different flow diverters in rabbits: The CICAFLOW study.
J Neuroradiol
; 2023 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37634579
4.
GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
Neurol Sci
; 43(11): 6517-6527, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35925454
5.
Distribution of proteinuria- and albuminuria-to-creatinine ratios in preterm newborns.
Pediatr Nephrol
; 36(6): 1515-1524, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33394192
6.
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
J Med Genet
; 57(5): 301-307, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287593
7.
Intra-arterial in-situ bevacizumab injection effect on angiogenesis. Results on a swine angiogenesis model.
J Neuroradiol
; 48(4): 299-304, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32184118
8.
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Hum Mutat
; 41(12): 2167-2178, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131162
9.
Normal values of urine total protein- and albumin-to-creatinine ratios in term newborns.
Pediatr Nephrol
; 32(1): 113-118, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27307246
10.
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
Prenat Diagn
; 36(6): 523-9, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27018091
11.
Elaboration of a semi-automated algorithm for brain arteriovenous malformation segmentation: initial results.
Eur Radiol
; 25(2): 436-43, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25239185
12.
WEB shape modifications: angiography-histopathology correlations in rabbits.
J Neurointerv Surg
; 16(3): 302-307, 2024 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37192788
13.
Study of p53 expression and post-transcriptional modifications after GSM-900 radiofrequency exposure of human amniotic cells.
Bioelectromagnetics
; 34(1): 52-60, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22767080
14.
Effect of 5-Fluoro-Uracile + Oxaliplatin chemotherapy on the histological response of PEritoneal and hePatIc corectal metasTases in a mOuse model: PEPITO experimental study.
Eur J Surg Oncol
; 49(3): 619-625, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36443179
15.
Hereditary predisposition to malignant myeloid hemopathies: Caution in use of saliva and guideline based on our experience.
Front Oncol
; 13: 1120829, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36923434
16.
DC2 and keratinocyte-associated protein 2 (KCP2), subunits of the oligosaccharyltransferase complex, are regulators of the gamma-secretase-directed processing of amyloid precursor protein (APP).
J Biol Chem
; 286(36): 31080-91, 2011 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-21768116
17.
Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome.
Am J Med Genet A
; 158A(8): 2015-20, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22753018
18.
Follow-up of increased nuchal translucency: Results of a study of 398 cases.
J Gynecol Obstet Hum Reprod
; 51(10): 102482, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36210052
19.
The new indirubin derivative inhibitors of glycogen synthase kinase-3, 6-BIDECO and 6-BIMYEO, prevent tau phosphorylation and apoptosis induced by the inhibition of protein phosphatase-2A by okadaic acid in cultured neurons.
J Neurosci Res
; 89(11): 1802-11, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21826701
20.
Telomere aberrations, including telomere loss, doublets, and extreme shortening, are increased in patients with infertility.
Fertil Steril
; 115(1): 164-173, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33272625