Works by Lesca, A.
Results: 208
Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimester.
- Published in:
- 2004
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- Publication type:
- journal article
Trisomy 17 mosaicism in amniotic fluid cells not found at birth in blood but present in skin fibroblasts.
- Published in:
- 1999
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- Publication type:
- journal article
Tailoring the radiotherapy approach in patients with anal squamous cell carcinoma based on inguinal sentinel lymph node biopsy.
- Published in:
- Journal of Surgical Oncology, 2021, v. 123, n. 1, p. 315, doi. 10.1002/jso.26226
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- Publication type:
- Article
Light-Sensitive Membrane Proteins as Tools to Generate Precision Treatments.
- Published in:
- 2020
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- Publication type:
- Biography
Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes--ENG and ACVRL1.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/3043736
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- Publication type:
- Article
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases.
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- Human Mutation, 2022, v. 43, n. 3, p. 347, doi. 10.1002/humu.24324
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- Publication type:
- Article
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
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- Human Mutation, 2021, v. 42, n. 7, p. 848, doi. 10.1002/humu.24208
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- Publication type:
- Article
Mandibular‐pelvic‐patellar syndrome is a novel PITX1‐related disorder due to alteration of PITX1 transactivation ability.
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- Human Mutation, 2020, v. 41, n. 9, p. 1499, doi. 10.1002/humu.24070
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- Publication type:
- Article
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
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- Human Mutation, 2020, v. 41, n. 1, p. 69, doi. 10.1002/humu.23915
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- Publication type:
- Article
Correction to: Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG‑PET presentation in spinocerebellar ataxia 17: a case report.
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- 2024
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- Publication type:
- Correction Notice
Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG-PET presentation in spinocerebellar ataxia 17: a case report.
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- Neurological Sciences, 2024, v. 45, n. 6, p. 2877, doi. 10.1007/s10072-024-07453-4
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- Publication type:
- Article
Complement C3 inhibitor Cp40 attenuates xenoreactions in pig hearts perfused with human blood.
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- Xenotransplantation, 2017, v. 24, n. 1, p. n/a, doi. 10.1111/xen.12262
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- Publication type:
- Article
Prenatal diagnosis of microcephaly with simplified gyral pattern: series of eight cases.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 63, n. 2, p. 271, doi. 10.1002/uog.27450
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- Publication type:
- Article
Two different prenatal imaging cerebral patterns of tubulinopathy.
- Published in:
- 2021
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- Publication type:
- Case Study
Is There an Association or Not?—Investigating the Association of Depressiveness, Physical Activity, Body Composition and Sleep With Mediators of Inflammation.
- Published in:
- Frontiers in Psychiatry, 2020, v. 11, p. 1, doi. 10.3389/fpsyt.2020.00563
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- Publication type:
- Article
Empirical evidence from a connectivist Competitive Intelligence Massive Open Online Course (CI cMOOC) proof of concept.
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- Journal of Intelligence Studies in Business, 2019, v. 9, n. 3, p. 7
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- Publication type:
- Article
Modulation of Glutathione Hemostasis by Inhibition of 12/15-Lipoxygenase Prevents ROS-Mediated Cell Death after Hepatic Ischemia and Reperfusion.
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- Oxidative Medicine & Cellular Longevity, 2017, p. 1, doi. 10.1155/2017/8325754
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- Publication type:
- Article
Decontamination and Remediation of Underground Holes and Testing of Cleaning Techniques Based on the Use of Liquid Cold Decontaminant.
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- Sustainability (2071-1050), 2022, v. 14, n. 17, p. 10565, doi. 10.3390/su141710565
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- Publication type:
- Article
Impact of Serum Cytokine Levels on EEG-Measured Arousal Regulation in Patients with Major Depressive Disorder and Healthy Controls.
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- Neuropsychobiology, 2016, v. 73, n. 1, p. 1, doi. 10.1159/000441190
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- Publication type:
- Article
APPLICATION DE LA VEILLE ANTICIPATIVE STRATEGIQUE POUR LE SUIVI DE L'ENVIRONMENT ET LA PRODUCTION DE CONNAISSANCES ACTIONABLES.
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- Revista de Gestão da Tecnologia e Sistemas de Informação / Journal of Information Systems & Technology Management, 2011, v. 8, n. 2, p. 425, doi. 10.4301/S1807-17752011000200009
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- Publication type:
- Article
The first case report of medulloblastoma associated with Tatton‐Brown–Rahman syndrome.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1357, doi. 10.1002/ajmg.a.61180
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- Publication type:
- Article
SERUM CONCENTRATIONS OF TNF-α AND ITS SOLUBLE RECEPTORS DURING PSYCHOTHERAPY IN GERMAN SOLDIERS SUFFERING FROM COMBAT-RELATED PTSD.
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- Psychiatria Danubina, 2016, v. 28, n. 3, p. 293
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- Publication type:
- Article
Thirty Years of Research into Rendu-Osler-Weber Disease in France: Historical Demography, Population Genetics and Molecular Biology.
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- Population (1634-2941), 2009, v. 64, n. 2, p. 273, doi. 10.3917/pope.902.0273
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- Publication type:
- Article
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
- Published in:
- 2015
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- Publication type:
- journal article
Late-pregnancy dysglycemia in obese pregnancies after negative testing for gestational diabetes and risk of future childhood overweight: An interim analysis from a longitudinal mother-child cohort study.
- Published in:
- 2018
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- Publication type:
- journal article
A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability.
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- Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00281-5
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- Publication type:
- Article
Regulation of arginase-1 expression in macrophages by a protein kinase a type I and histone deacetylase dependent pathway.
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- Journal of Cellular Biochemistry, 2008, v. 103, n. 2, p. 520, doi. 10.1002/jcb.21422
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- Publication type:
- Article
The p.Asp216His TOR1A allele effect is not found in the French population.
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- Movement Disorders, 2009, v. 24, n. 6, p. 919, doi. 10.1002/mds.22407
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- Publication type:
- Article
Dose to Pelvic Bone Marrow Defined with FDG-PET Predicts for Hematologic Nadirs in Anal Cancer Patients Treated with Concurrent Chemo-radiation.
- Published in:
- 2018
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- Publication type:
- journal article
Sentinel Lymph Node Biopsy in Malignant Melanoma of the Head and Neck: A Single Center Experience.
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- Journal of Clinical Medicine, 2023, v. 12, n. 2, p. 553, doi. 10.3390/jcm12020553
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- Publication type:
- Article
Predictive Value of Baseline [18F]FDG PET/CT for Response to Systemic Therapy in Patients with Advanced Melanoma.
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- Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 4994, doi. 10.3390/jcm10214994
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- Publication type:
- Article
Non-Sentinel Lymph Node Detection during Sentinel Lymph Node Biopsy in Not-Complete-Lymph-Node-Dissection Era: A New Technique for Better Staging and Treating Melanoma Patients.
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- Journal of Clinical Medicine, 2021, v. 10, n. 19, p. 4319, doi. 10.3390/jcm10194319
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- Publication type:
- Article
Rare variants in the GABA<sub>A</sub> receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1388
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- Publication type:
- Article
Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 10, p. N.PAG, doi. 10.1002/mgg3.939
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- Publication type:
- Article
Concurrent Chemoradiation in Anal Cancer Patients Delivered with Bone Marrow-Sparing IMRT: Final Results of a Prospective Phase II Trial.
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- Journal of Personalized Medicine, 2021, v. 11, n. 5, p. 427, doi. 10.3390/jpm11050427
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- Publication type:
- Article
DNA damage induce γ-tubulin–RAD51 nuclear complexes in mammalian cells.
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- Oncogene, 2005, v. 24, n. 33, p. 5165, doi. 10.1038/sj.onc.1208723
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- Publication type:
- Article
Thirty Years of Research into Rendu-Osler-Weber Disease in France: Historical Demography, Population Genetics and Molecular Biology.
- Published in:
- Population (00324663), 2009, v. 64, n. 2, p. 273, doi. 10.3917/pope.902.0273
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- Publication type:
- Article
Impact of the bioresorbable vascular scaffold surface area on on-treatment platelet reactivity.
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- Platelets, 2016, v. 27, n. 5, p. 446, doi. 10.3109/09537104.2016.1143918
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- Publication type:
- Article
Distribution of ENG and ACVRL1 ( ALK1) mutations in French HHT patients.
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- Human Mutation, 2006, v. 27, n. 6, p. 598, doi. 10.1002/humu.9421
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- Publication type:
- Article
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.
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- Human Mutation, 2004, v. 23, n. 4, p. 289, doi. 10.1002/humu.20017
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- Publication type:
- Article
Experiencias de educación, trabajo y política en barrios populares.
- Published in:
- 2022
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- Publication type:
- Book Review
Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 20, p. 2469, doi. 10.3390/cells12202469
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- Publication type:
- Article
Collective intelligence process to interpret weak signals and early warnings.
- Published in:
- Journal of Intelligence Studies in Business, 2019, v. 9, n. 2, p. 19, doi. 10.37380/jisib.v9i2.466
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- Publication type:
- Article
metabolomic approach to identify the link between sports activity and atheroprotection.
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- European Journal of Preventive Cardiology, 2022, v. 29, n. 3, p. 436, doi. 10.1093/eurjpc/zwaa122
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- Publication type:
- Article
Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-29280-x
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- Publication type:
- Article
Lung emphysema and impaired macrophage elastase clearance in mucolipin 3 deficient mice.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-021-27860-x
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- Publication type:
- Article
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
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- Molecular Autism, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13229-019-0286-0
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- Publication type:
- Article
Platelet reactivity and clinical outcomes in acute coronary syndrome patients treated with prasugrel and clopidogrel: a pre-specified exploratory analysis from the TROPICAL-ACS trial.
- Published in:
- European Heart Journal, 2019, v. 40, n. 24, p. 1942, doi. 10.1093/eurheartj/ehz202
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- Publication type:
- Article
T-cell prolymphocytic leukemia with autoimmune manifestations in Nijmegen breakage syndrome.
- Published in:
- 2003
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- Publication type:
- journal article
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.
- Published in:
- Epilepsia (Series 4), 2010, v. 51, n. 9, p. 1691, doi. 10.1111/j.1528-1167.2010.02692.x
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- Publication type:
- Article