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Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion

Stem cell research, 2023-02, Vol.66, p.103007-103007, Article 103007

2023

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Generation of IGGi003-A induced pluripotent stem cell line from a patient with Sotos Syndrome carrying c.1633delA NSD1 variant in exon 5

Stem cell research, 2024-04, Vol.76, p.103324-103324, Article 103324

2024

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Membrane Cholesterol Modulates LOX-1 Shedding in Endothelial Cells

PloS one, 2015-10, Vol.10 (10), p.e0141270-e0141270

2015

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Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome

Genes, 2023-01, Vol.14 (2), p.295

2023

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The Short Form of the Glasgow Composite Measure Pain Scale in Post-operative Analgesia Studies in Dogs: A Scoping Review

Frontiers in veterinary science, 2021-09, Vol.8, p.751949-751949

2021

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The lectin-like oxidized LDL receptor-1: a new potential molecular target in colorectal cancer

Oncotarget, 2016-03, Vol.7 (12), p.14765-14780

2016

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NSD1 Mutations in Sotos Syndrome Induce Differential Expression of Long Noncoding RNAs, miR646 and Genes Controlling the G2/M Checkpoint

Life (Basel, Switzerland), 2022-07, Vol.12 (7), p.988

2022

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Breast cancer in West Africa: molecular analysis of BRCA genes in early-onset breast cancer patients in Burkina Faso

Human genomics, 2021-10, Vol.15 (1), p.65-65, Article 65

2021

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Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome

Genes, 2023-03, Vol.14 (4), p.810

2023

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Persistent hypoxaemia and pulmonary oedema in a horse anaesthetised for emergency exploratory laparotomy

Veterinary record case reports, 2023-09, Vol.11 (3), p.n/a

2023

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Genetics and Genomics of Breast Cancer: update and translational perspectives

Seminars in cancer biology, 2021-07, Vol.72, p.27-35

2021

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Pleomorphic Parotid Adenoma in a Child Affected with Cri du Chat Syndrome: Clinical, Cytogenetic, and Molecular Analysis

International journal of molecular sciences, 2024-10, Vol.25 (19), p.10664

2024

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Identification of alternative transcripts of NSD1 gene in Sotos Syndrome patients and healthy subjects

Gene, 2023-01, Vol.851, p.146970-146970, Article 146970

2023

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A suspected non‐allergic anaphylactic reaction to intravenous administration of atracurium in a dog

Veterinary record case reports, 2021-09, Vol.9 (3), p.n/a

2021

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Cognitive, adaptive and behavioral profile in Sotos syndrome children with 5q35 microdeletion or intragenic variants

American journal of medical genetics. Part A, 2023-07, Vol.191 (7), p.1836-1848

2023

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Assessment of Magnetic Resonance Imaging Artefacts Caused by Equine Anaesthesia Equipment: A Cadaver Study

Journal of equine veterinary science, 2023-07, Vol.126, p.104492-104492, Article 104492

2023

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Impact of NSD1 Alternative Transcripts in Actin Filament Formation and Cellular Division Pathways in Fibroblasts

Genes, 2024-08, Vol.15 (9), p.1117

2024

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Exome Analysis Reveals Novel Missense and Deletion Variants in the ICC2D2A/I Gene as Causative of Joubert Syndrome

Genes, 2023-03, Vol.14 (4)

2023

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Simulative and experimental investigation on the cleavage site that generates the soluble human LOX-1

Archives of biochemistry and biophysics, 2013-12, Vol.540 (1-2), p.9-18

2013

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Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

BMC medical genetics, 2015-04, Vol.16 (1), p.20-20, Article 20

2015

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Coexistence of Two Novel Mutations in CDKN2A and PMS1 Genes in a Single Patient Identifies a New and Severe Cancer Predisposition Syndrome

Oncomedicine (Online), 2017, Vol.2, p.88-92

2017

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Ultrastructural localization of cell surface sugar residues in ericoid mycorrhizal fungi by gold-labeled lectins

Protoplasma, 1987-02, Vol.139 (1), p.25-35

1987

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Determination of darodipine (PY 108-068) in plasma by capillary gas chromatography with electron capture detection

Journal of high resolution chromatography, 1993-11, Vol.16 (11), p.677-678

1993

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Statement on advancing the assessment of chemical mixtures and their risks for human health and the environment

Environment international, 2020-01, Vol.134, p.105267-105267, Article 105267

2020

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Lipid Oxidation Derived Aldehydes and Oxysterols Between Health and Disease

European journal of lipid science and technology, 2019-01, Vol.121 (1), p.n/a

2019

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Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion

Generation of IGGi003-A induced pluripotent stem cell line from a patient with Sotos Syndrome carrying c.1633delA NSD1 variant in exon 5

Membrane Cholesterol Modulates LOX-1 Shedding in Endothelial Cells

Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome

The Short Form of the Glasgow Composite Measure Pain Scale in Post-operative Analgesia Studies in Dogs: A Scoping Review

The lectin-like oxidized LDL receptor-1: a new potential molecular target in colorectal cancer

NSD1 Mutations in Sotos Syndrome Induce Differential Expression of Long Noncoding RNAs, miR646 and Genes Controlling the G2/M Checkpoint

Breast cancer in West Africa: molecular analysis of BRCA genes in early-onset breast cancer patients in Burkina Faso

Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome

Persistent hypoxaemia and pulmonary oedema in a horse anaesthetised for emergency exploratory laparotomy

Genetics and Genomics of Breast Cancer: update and translational perspectives

Pleomorphic Parotid Adenoma in a Child Affected with Cri du Chat Syndrome: Clinical, Cytogenetic, and Molecular Analysis

Identification of alternative transcripts of NSD1 gene in Sotos Syndrome patients and healthy subjects

A suspected non‐allergic anaphylactic reaction to intravenous administration of atracurium in a dog

Cognitive, adaptive and behavioral profile in Sotos syndrome children with 5q35 microdeletion or intragenic variants

Assessment of Magnetic Resonance Imaging Artefacts Caused by Equine Anaesthesia Equipment: A Cadaver Study

Impact of NSD1 Alternative Transcripts in Actin Filament Formation and Cellular Division Pathways in Fibroblasts

Exome Analysis Reveals Novel Missense and Deletion Variants in the ICC2D2A/I Gene as Causative of Joubert Syndrome

Simulative and experimental investigation on the cleavage site that generates the soluble human LOX-1

Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

Coexistence of Two Novel Mutations in CDKN2A and PMS1 Genes in a Single Patient Identifies a New and Severe Cancer Predisposition Syndrome

Ultrastructural localization of cell surface sugar residues in ericoid mycorrhizal fungi by gold-labeled lectins

Determination of darodipine (PY 108-068) in plasma by capillary gas chromatography with electron capture detection

Statement on advancing the assessment of chemical mixtures and their risks for human health and the environment

Lipid Oxidation Derived Aldehydes and Oxysterols Between Health and Disease

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