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Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets

Molecular Medicine, 2018-03, Vol.24 (1), p.2-2, Article 2

2018

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Targeting Mitochondrial Network Architecture in Down Syndrome and Aging

International journal of molecular sciences, 2020-04, Vol.21 (9), p.3134

2020

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Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus

Haematologica (Roma), 2020-12, Vol.105 (12), p.2883-2886

2020

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Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder

European journal of human genetics : EJHG, 2019-09, Vol.27 (9), p.1475-1480

2019

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Invasive prenatal diagnosis during COVID-19 pandemic

Archives of gynecology and obstetrics, 2022-03, Vol.305 (3), p.797-801

2022

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Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene

Neurological sciences, 2021-05, Vol.42 (5), p.2115-2117

2021

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Pioglitazone Improves Mitochondrial Organization and Bioenergetics in Down Syndrome Cells

Frontiers in genetics, 2019-06, Vol.10, p.606-606

2019

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Human Trisomic iPSCs from Down Syndrome Fibroblasts Manifest Mitochondrial Alterations Early during Neuronal Differentiation

Biology (Basel, Switzerland), 2021-06, Vol.10 (7), p.609

2021

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Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy

BMC genomics, 2007-08, Vol.8 (1), p.268-268, Article 268

2007

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Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome

American journal of medical genetics. Part A, 2017-07, Vol.173 (7), p.1896-1902

2017

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Corrigendum: Pioglitazone Improves Mitochondrial Organization and Bioenergetics in Down Syndrome Cells

Frontiers in genetics, 2020-07, Vol.11, p.728-728

2020

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Profilin 1 deficiency drives mitotic defects and reduces genome stability

Communications biology, 2023-01, Vol.6 (1), p.9-9, Article 9

2023

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Overexpression of Chromosome 21 miRNAs May Affect Mitochondrial Function in the Hearts of Down Syndrome Fetuses

International journal of genomics, 2017-01, Vol.2017, p.1-10

2017

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Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency

Medical sciences (Basel), 2019-02, Vol.7 (3), p.40

2019

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Case Report: Ophthalmologic Evaluation Over a Long Follow-Up Time in a Patient With Wolfram Syndrome Type 2: Slowly Progressive Optic Neuropathy as a Possible Clinical Finding

Frontiers in pediatrics, 2021-04, Vol.9, p.661434

2021

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Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cells

Human molecular genetics, 2017-03, Vol.26 (6), p.1056-1069

2017

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The two-domain hypothesis in Beckwith–Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster

Human molecular genetics, 2005-02, Vol.14 (4), p.503-511

2005

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Peculiar footprints in a child with agenesis of corpus callosum

Journal of paediatrics and child health, 2021-03, Vol.57 (3), p.450-451

2021

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Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition

Clinical genetics, 2019-10, Vol.96 (4), p.359-365

2019

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M170. GENETIC CHARACTERIZATION OF A COHORT OF PATIENTS AFFECTED BY SCHIZOPHRENIA. THE ROLE FOR RARE STRUCTURAL VARIANTS IN MODULATING TREATMENT RESISTANT ENDOPHENOTYPES: PRELIMINARY DATA

Schizophrenia bulletin, 2020-05, Vol.46 (Supplement_1), p.S201-S201

2020

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A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

Clinical genetics, 2020-06, Vol.97 (6), p.940-942

2020

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A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2

BMC medical genetics, 2014-07, Vol.15 (1), p.88-88, Article 88

2014

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Loss-of-function variants in myocardin cause congenital megabladder in humans and mice

The Journal of clinical investigation, 2019-12, Vol.129 (12), p.5374-5380

2019

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First trimester ultrasound features of X-linked Opitz syndrome and early molecular diagnosis: case report and review of the literature

The journal of maternal-fetal & neonatal medicine, 2021-09, Vol.34 (18), p.3089-3093

2021

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Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets

Targeting Mitochondrial Network Architecture in Down Syndrome and Aging

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus

Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder

Invasive prenatal diagnosis during COVID-19 pandemic

Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene

Pioglitazone Improves Mitochondrial Organization and Bioenergetics in Down Syndrome Cells

Human Trisomic iPSCs from Down Syndrome Fibroblasts Manifest Mitochondrial Alterations Early during Neuronal Differentiation

Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy

Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome

Corrigendum: Pioglitazone Improves Mitochondrial Organization and Bioenergetics in Down Syndrome Cells

Profilin 1 deficiency drives mitotic defects and reduces genome stability

Overexpression of Chromosome 21 miRNAs May Affect Mitochondrial Function in the Hearts of Down Syndrome Fetuses

Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency

Case Report: Ophthalmologic Evaluation Over a Long Follow-Up Time in a Patient With Wolfram Syndrome Type 2: Slowly Progressive Optic Neuropathy as a Possible Clinical Finding

Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cells

The two-domain hypothesis in Beckwith–Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster

Peculiar footprints in a child with agenesis of corpus callosum

Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition

M170. GENETIC CHARACTERIZATION OF A COHORT OF PATIENTS AFFECTED BY SCHIZOPHRENIA. THE ROLE FOR RARE STRUCTURAL VARIANTS IN MODULATING TREATMENT RESISTANT ENDOPHENOTYPES: PRELIMINARY DATA

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice

First trimester ultrasound features of X-linked Opitz syndrome and early molecular diagnosis: case report and review of the literature

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