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Measuring the Outcomes of Maternal COVID-19-related Prenatal Exposure (MOM-COPE): study protocol for a multicentric longitudinal project

BMJ open, 2020-12, Vol.10 (12), p.e044585

2020

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Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations

Journal of dermatological science, 2011-12, Vol.64 (3), p.237-240

2011

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Arterial tortuosity syndrome in two Italian paediatric patients

Orphanet journal of rare diseases, 2009-09, Vol.4 (1), p.20-20, Article 20

2009

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Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients

Orphanet journal of rare diseases, 2009-11, Vol.4 (1), p.24-24, Article 24

2009

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Ultrasound follow-up of an unusual giant urinoma in a newborn

Journal of ultrasound, 2018-03, Vol.21 (1), p.65-68

2018

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Clinical, neuroradiological and molecular features of a patient affected by pseudoxhantoma elasticum associated to carotid rete mirabile : Case report

Clinical neurology and neurosurgery, 2012-07, Vol.114 (6), p.758-761

2012

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The risk of hospitalisation from RSV is not increased by co-infection in children under 24-months-of-age

European journal of pediatrics, 2024-04, Vol.183 (4), p.1943-1945

2024

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Compound heterozygosity for a novel and a recurrent ABCC6 gene mutation in an Italian family with Pseudoxanthoma elasticum

Journal of dermatological science, 2008-03, Vol.49 (3), p.252-255

2008

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Congenital Unilesional Cutaneous Langerhans Cell Histiocytosis: A Case Report

The American journal of dermatopathology, 2021-03, Vol.43 (3), p.e38-e42

2021

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The MOM-COPE research project: Measuring the outcomes of maternal COVID19-related prenatal exposure

Psychoneuroendocrinology, 2020-09, Vol.119, p.104999, Article 104999

2020

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Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring

Frontiers in neurology, 2023-01, Vol.13, p.1072256-1072256

2023

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Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring

Frontiers in neurology, 2024-03, Vol.15, p.1376447-1376447

2024

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Mutations in TGFBR2 gene cause spontaneous cervical artery dissection

Journal of neurology, neurosurgery and psychiatry, 2011-12, Vol.82 (12), p.1372-1374

2011

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Ischemic stroke in an adolescent with arterial tortuosity syndrome

Neurology, 2007-05, Vol.68 (19), p.1637; author reply 1637-1637

2007

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A case of neonatal Jeune syndrome expanding the phenotype

Clinical case reports, 2014-08, Vol.2 (4), p.156-158

2014

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Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome

American journal of medical genetics. Part A, 2007-01, Vol.143A (2), p.216-218

2007

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Waardenburg–Shah syndrome: A case of neonatal palliative care

Pediatric Discovery (Online), 2024-09

2024

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Erratum to “Letter to the Editor – Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations” [J. Dermatol. Sci. 64 (2011) 237–248]

Journal of dermatological science, 2012-01, Vol.65 (1), p.77-77

2012

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Hypercalcemia and nephrocalcinosis complicating subcutaneous fat necrosis in a newborn after therapeutic hypothermia

Minerva pediatrica, 2016-08, Vol.68 (4), p.316

2016

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Measuring the Outcomes of Maternal COVID-19-related Prenatal Exposure (MOM-COPE): study protocol for a multicentric longitudinal project

Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations

Arterial tortuosity syndrome in two Italian paediatric patients

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients

Ultrasound follow-up of an unusual giant urinoma in a newborn

Clinical, neuroradiological and molecular features of a patient affected by pseudoxhantoma elasticum associated to carotid rete mirabile : Case report

The risk of hospitalisation from RSV is not increased by co-infection in children under 24-months-of-age

Compound heterozygosity for a novel and a recurrent ABCC6 gene mutation in an Italian family with Pseudoxanthoma elasticum

Congenital Unilesional Cutaneous Langerhans Cell Histiocytosis: A Case Report

The MOM-COPE research project: Measuring the outcomes of maternal COVID19-related prenatal exposure

Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring

Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring

Mutations in TGFBR2 gene cause spontaneous cervical artery dissection

Ischemic stroke in an adolescent with arterial tortuosity syndrome

A case of neonatal Jeune syndrome expanding the phenotype

Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome

Waardenburg–Shah syndrome: A case of neonatal palliative care

Erratum to “Letter to the Editor – Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations” [J. Dermatol. Sci. 64 (2011) 237–248]

Hypercalcemia and nephrocalcinosis complicating subcutaneous fat necrosis in a newborn after therapeutic hypothermia

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