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Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

Epigenetics, 2018-09, Vol.13 (9), p.897-909

2018

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Blood fetal microchimerism in primary biliary cirrhosis

Clinical and experimental immunology, 2000-12, Vol.122 (3), p.418-422

2000

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Placental IGF2 Expression in Normal and Intrauterine Growth Restricted (IUGR) Pregnancies

Placenta (Eastbourne), 2008-01, Vol.29 (1), p.99-101

2008

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Emotion‐Induced Myoclonic Absence‐Like Seizures in a Patient with Inv‐Dup(15) Syndrome: A Clinical, EEG, and Molecular Genetic Study

Epilepsia (Copenhagen), 1999-09, Vol.40 (9), p.1316-1319

1999

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Absence of detectable maternal DNA and identification of proviral HIV in the cord blood of two infants who became HIV-infected

AIDS (London), 1997-05, Vol.11 (6), p.840-841

1997

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Detection of maternal DNA in cord blood at birth after elective caesarean section or vaginal delivery

AIDS (London), 2000-03, Vol.14 (5), p.623-625

2000

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Absence of detectable maternal DNA and identification of proviral HIV in the cord blood of two infants who became HIV-infected

AIDS (London), 1997-07, Vol.11 (8), p.840-841

1997

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Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith-Wiedemann Syndrome Cell Lines

International journal of molecular sciences, 2024-04, Vol.25 (7), p.3586

2024

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Primary TSC2 -/meth Cells Induce Follicular Neogenesis in an Innovative TSC Mouse Model

International journal of molecular sciences, 2022-08, Vol.23 (17), p.9713

2022

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Non-invasive biomarkers for sperm retrieval in non-obstructive patients: a comprehensive review

Frontiers in endocrinology (Lausanne), 2024-04, Vol.15, p.1349000

2024

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Misbehaviour of XIST RNA in breast cancer cells

PloS one, 2009-05, Vol.4 (5), p.e5559-e5559

2009

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Extensive Placental Methylation Profiling in Normal Pregnancies

International journal of molecular sciences, 2021-02, Vol.22 (4), p.2136

2021

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Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance

International journal of molecular sciences, 2021-04, Vol.22 (7), p.3445

2021

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Correction: Rondinone et al. Extensive Placental Methylation Profiling in Normal Pregnancies. Int. J. Mol. Sci. 2021, 22 , 2136

International journal of molecular sciences, 2022-05, Vol.23 (10), p.5298

2022

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Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction

Epigenetics, 2010-05, Vol.5 (4), p.313-324

2010

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Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients

Scientific reports, 2020-05, Vol.10 (1), p.8275-8275, Article 8275

2020

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DNA Methylation in the Diagnosis of Monogenic Diseases

Genes, 2020-03, Vol.11 (4), p.355

2020

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From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature

Italian journal of pediatrics, 2022-05, Vol.48 (1), p.72-72, Article 72

2022

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Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

Orphanet journal of rare diseases, 2012-01, Vol.7 (1), p.10-10, Article 10

2012

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Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature

Genes, 2023-09, Vol.14 (9), p.1817

2023

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KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype

Italian journal of pediatrics, 2023-08, Vol.49 (1), p.1-99, Article 99

2023

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Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient

Italian journal of pediatrics, 2020-09, Vol.46 (1), p.1-140, Article 140

2020

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The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders

Frontiers in genetics, 2022-08, Vol.13, p.875182-875182

2022

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X chromosome inactivation pattern in BRCA gene mutation carriers

European journal of cancer (1990), 2013-03, Vol.49 (5), p.1136-1141

2013

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Definition and prevalence of familial short stature

Italian journal of pediatrics, 2021-03, Vol.47 (1), p.56-56, Article 56

2021

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Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

Blood fetal microchimerism in primary biliary cirrhosis

Placental IGF2 Expression in Normal and Intrauterine Growth Restricted (IUGR) Pregnancies

Emotion‐Induced Myoclonic Absence‐Like Seizures in a Patient with Inv‐Dup(15) Syndrome: A Clinical, EEG, and Molecular Genetic Study

Absence of detectable maternal DNA and identification of proviral HIV in the cord blood of two infants who became HIV-infected

Detection of maternal DNA in cord blood at birth after elective caesarean section or vaginal delivery

Absence of detectable maternal DNA and identification of proviral HIV in the cord blood of two infants who became HIV-infected

Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith-Wiedemann Syndrome Cell Lines

Primary TSC2 -/meth Cells Induce Follicular Neogenesis in an Innovative TSC Mouse Model

Non-invasive biomarkers for sperm retrieval in non-obstructive patients: a comprehensive review

Misbehaviour of XIST RNA in breast cancer cells

Extensive Placental Methylation Profiling in Normal Pregnancies

Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance

Correction: Rondinone et al. Extensive Placental Methylation Profiling in Normal Pregnancies. Int. J. Mol. Sci. 2021, 22 , 2136

Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction

Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients

DNA Methylation in the Diagnosis of Monogenic Diseases

From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature

KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype

Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient

The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders

X chromosome inactivation pattern in BRCA gene mutation carriers

Definition and prevalence of familial short stature

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