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Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus

Frontiers in neurology, 2023-07, Vol.14, p.1199095

2023

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Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A

Stem cell research, 2024-06, Vol.77, p.103406, Article 103406

2024

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Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson’s syndrome

Stem cell research, 2021-01, Vol.50, p.102151-102151, Article 102151

2021

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Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber’s Hereditary optic Neuropathy (LHON)

Stem cell research, 2020-10, Vol.48, p.101939-101939, Article 101939

2020

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Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving BCL2L10, GNB5, and MYO5C Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA)

Frontiers in genetics, 2020-05, Vol.11, p.399-399

2020

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A new function of microtubule-associated protein tau: Involvement in chromosome stability

Cell cycle (Georgetown, Tex.), 2008-06, Vol.7 (12), p.1788-1794

2008

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Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with NAA15 Variant

Movement disorders, 2024-07, Vol.39 (7), p.1238-1240

2024

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Genetic and Plasma Markers of Venous Thromboembolism in Patients with High Grade Glioma

Clinical cancer research, 2004-02, Vol.10 (4), p.1312-1317

2004

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22q13.33 duplication involving SHANK3 gene: a boy and his mother with "persistent" language and speech sound disorder

Psychiatric genetics, 2024-02, Vol.34 (1), p.19

2024

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Neurological phenotype of Potocki–Lupski syndrome

American journal of medical genetics. Part A, 2020-10, Vol.182 (10), p.2317-2324

2020

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Rhythmic cortical myoclonus in patients with 6Q22.1 deletion

European journal of paediatric neurology, 2023-05, Vol.44, p.25-27

2023

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The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children

Journal of child neurology, 2016-05, Vol.31 (6), p.691-699

2016

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The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs

Stem cell reports, 2021-08, Vol.16 (8), p.1953-1967

2021

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Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

American journal of human genetics, 2016-02, Vol.98 (2), p.363-372

2016

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Frequency of NFKBIA deletions is low in glioblastomas and skewed in glioblastoma neurospheres

Molecular cancer, 2013-12, Vol.12 (1), p.160-160, Article 160

2013

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5p13 microduplication syndrome: A new case and better clinical definition of the syndrome

European journal of medical genetics, 2013-01, Vol.56 (1), p.54-58

2013

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MEF2C deletions and mutations versus duplications: A clinical comparison

European journal of medical genetics, 2013-05, Vol.56 (5), p.260-265

2013

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An autoinflammatory neurological disease due to interleukin 6 hypersecretion

Journal of neuroinflammation, 2013-02, Vol.10 (1), p.29-29, Article 802

2013

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Production and post-surgical modification of VEGF, tPA and PAI-1 in patients with glioma

Cancer biology & therapy, 2006-02, Vol.5 (2), p.204-209

2006

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IL-1 genes in myasthenia gravis: IL-1A −889 polymorphism associated with sex and age of disease onset

Journal of neuroimmunology, 2002, Vol.122 (1), p.94-99

2002

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Tumor necrosis factor α and its receptors in relapsing-remitting multiple sclerosis

Journal of the neurological sciences, 1997-11, Vol.152 (1), p.51-61

1997

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Analysis of an IFN-gamma gene (IFNG) polymorphism in multiple sclerosis in Europe: effect of population structure on association with disease

Journal of interferon & cytokine research, 1999-09, Vol.19 (9), p.1037-1046

1999

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Association study of a new polymorphism in the PECAM-1 gene in multiple sclerosis

Journal of neuroimmunology, 2000-05, Vol.104 (2), p.174-178

2000

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Expression of monocyte chemotactic protein-1 by monocytes and endothelial cells exposed to thrombin

The American journal of pathology, 1994-05, Vol.144 (5), p.975-985

1994

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Regulation of endothelial and mesothelial cell function by interleukin-13: selective induction of vascular cell adhesion molecule-1 and amplification of interleukin-6 production

Blood, 1994-09, Vol.84 (6), p.1913-1921

1994

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Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus

Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A

Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson’s syndrome

Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber’s Hereditary optic Neuropathy (LHON)

Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving BCL2L10, GNB5, and MYO5C Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA)

A new function of microtubule-associated protein tau: Involvement in chromosome stability

Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with NAA15 Variant

Genetic and Plasma Markers of Venous Thromboembolism in Patients with High Grade Glioma

22q13.33 duplication involving SHANK3 gene: a boy and his mother with "persistent" language and speech sound disorder

Neurological phenotype of Potocki–Lupski syndrome

Rhythmic cortical myoclonus in patients with 6Q22.1 deletion

The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children

The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

Frequency of NFKBIA deletions is low in glioblastomas and skewed in glioblastoma neurospheres

5p13 microduplication syndrome: A new case and better clinical definition of the syndrome

MEF2C deletions and mutations versus duplications: A clinical comparison

An autoinflammatory neurological disease due to interleukin 6 hypersecretion

Production and post-surgical modification of VEGF, tPA and PAI-1 in patients with glioma

IL-1 genes in myasthenia gravis: IL-1A −889 polymorphism associated with sex and age of disease onset

Tumor necrosis factor α and its receptors in relapsing-remitting multiple sclerosis

Analysis of an IFN-gamma gene (IFNG) polymorphism in multiple sclerosis in Europe: effect of population structure on association with disease

Association study of a new polymorphism in the PECAM-1 gene in multiple sclerosis

Expression of monocyte chemotactic protein-1 by monocytes and endothelial cells exposed to thrombin

Regulation of endothelial and mesothelial cell function by interleukin-13: selective induction of vascular cell adhesion molecule-1 and amplification of interleukin-6 production

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