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.
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
J Med Genet;
59(12): 1234-1240, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36137615
3.
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
4.
CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer.
PLoS Comput Biol;
16(2): e1007503, 2020 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32049956
5.
New Method for Sorting Endothelial and Neural Progenitors from Human Induced Pluripotent Stem Cells by Sedimentation Field Flow Fractionation.
Anal Chem;
88(13): 6696-702, 2016 07 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27263863
6.
Netazepide, an Antagonist of Cholecystokinin Type 2 Receptor, Prevents Vincristine-Induced Sensory Neuropathy in Mice.
Pharmaceuticals (Basel);
17(2)2024 Jan 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38399359
7.
Neuroprotective Effect of Polyvalent Immunoglobulins on Mouse Models of Chemotherapy-Induced Peripheral Neuropathy.
Pharmaceutics;
16(1)2024 Jan 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38276509
8.
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
9.
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
10.
Comparative analysis of histopathological parameters, genome-wide copy number alterations, and variants in genes involved in cell cycle regulation in chordomas of the skull base and sacrum.
J Neuropathol Exp Neurol;
82(4): 312-323, 2023 03 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36779322
11.
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
12.
Neuroprotective Effect of Ramipril Is Mediated by AT2 in a Mouse MODEL of Paclitaxel-Induced Peripheral Neuropathy.
Pharmaceutics;
14(4)2022 Apr 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35456682
13.
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
14.
Blockade of Cholecystokinin Type 2 Receptors Prevents the Onset of Vincristine-Induced Neuropathy in Mice.
Pharmaceutics;
14(12)2022 Dec 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36559317
15.
The Cholecystokinin Type 2 Receptor, a Pharmacological Target for Pain Management.
Pharmaceuticals (Basel);
14(11)2021 Nov 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34832967
16.
The Angiotensin II Type 2 Receptor, a Target for Protection and Regeneration of the Peripheral Nervous System?
Pharmaceuticals (Basel);
14(3)2021 Feb 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33668331
17.
Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.
Ann Clin Transl Neurol;
8(2): 471-476, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33405357
18.
New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software.
Comput Struct Biotechnol J;
19: 4265-4272, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34429846
19.
GDAP1 Involvement in Mitochondrial Function and Oxidative Stress, Investigated in a Charcot-Marie-Tooth Model of hiPSCs-Derived Motor Neurons.
Biomedicines;
9(8)2021 Aug 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34440148
20.
Severe Phenotype in Patients with Large Deletions of NF1.
Cancers (Basel);
13(12)2021 Jun 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34199217