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Guidelines for diagnosis and management of congenital central hypoventilation syndrome

Orphanet journal of rare diseases, 2020-09, Vol.15 (1), p.252-21, Article 252

2020

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A Common 3′UTR Variant of the PHOX2B Gene Is Associated With Infant Life-Threatening and Sudden Death Events in the Italian Population

Frontiers in neurology, 2021-03, Vol.12

2021

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Urinary Biomarkers as a Proxy for Congenital Central Hypoventilation Syndrome Patient Follow-Up

Antioxidants, 2022-05, Vol.11 (5), p.929

2022

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Apparent Life-Threatening Events (ALTE): Italian guidelines

Italian journal of pediatrics, 2017-12, Vol.43 (1), p.111-111, Article 111

2017

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Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene

Stem cell research, 2022-05, Vol.61, p.102781-102781, Article 102781

2022

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The multiagency approach to Sudden Unexpected Infant Deaths (SUID): eleven years’ experience in the Tuscany Region

Italian journal of pediatrics, 2020-07, Vol.46 (1), p.1-99, Article 99

2020

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Can we still do something-and what? - for a seemingly missing syndrome?: "Yes we can"

Italian journal of pediatrics, 2019-10, Vol.45 (1), p.132-132, Article 132

2019

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A Common 3'UTR Variant of the PHOX2B Gene Is Associated With Infant Life-Threatening and Sudden Death Events in the Italian Population

Frontiers in neurology, 2021, Vol.12, p.642735-642735

2021

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Systemic oxidative stress in congenital central hypoventilation syndrome

The European respiratory journal, 2018-11, Vol.52 (5), p.1801497

2018

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Sleeping problems in mothers and fathers of patients suffering from congenital central hypoventilation syndrome

Sleep & breathing, 2015-09, Vol.19 (3), p.1057-1064

2015

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Proceedings of the fourth international conference on central hypoventilation

Orphanet journal of rare diseases, 2014-12, Vol.9 (1), p.194-194, Article 194

2014

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Sudden unexpected perinatal collapse and sudden unexpected early neonatal death

Early human development, 2013-10, Vol.89, p.S25-S26

2013

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Telemonitoring for infants at risk of apnoea, bradycardia and hypoxaemia: transmission of data improves the family compliance during home monitoring

Journal of telemedicine and telecare, 2012-09, Vol.18 (6), p.344

2012

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Fog-induced Cough with Impaired Respiratory Sensation in Congenital Central Hypoventilation Syndrome

American journal of respiratory and critical care medicine, 2007-10, Vol.176 (8), p.825-832

2007

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Comparison between pulse oximetry and transthoracic impedance alarm traces during home monitoring

Archives of disease in childhood, 2008-02, Vol.93 (2), p.126-132

2008

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Head covering, sweating, and the risk of sudden infant death syndrome

Pediatrics (Evanston), 2008-10, Vol.122 (4), p.909; author reply 909

2008

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International Child Care Practices Study: Breastfeeding and Pacifier Use

Journal of human lactation, 2005-08, Vol.21 (3), p.289-295

2005

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Cough in children with congenital central hypoventilation syndrome

Pulmonary pharmacology & therapeutics, 2004-01, Vol.17 (6), p.425-429

2004

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Mutational analysis of the RNX gene in congenital central hypoventilation syndrome

American journal of medical genetics, 2002-11, Vol.113 (2), p.178-182

2002

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Guidelines for diagnosis and management of congenital central hypoventilation syndrome

A Common 3′UTR Variant of the PHOX2B Gene Is Associated With Infant Life-Threatening and Sudden Death Events in the Italian Population

Urinary Biomarkers as a Proxy for Congenital Central Hypoventilation Syndrome Patient Follow-Up

Apparent Life-Threatening Events (ALTE): Italian guidelines

Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene

The multiagency approach to Sudden Unexpected Infant Deaths (SUID): eleven years’ experience in the Tuscany Region

Can we still do something-and what? - for a seemingly missing syndrome?: "Yes we can"

A Common 3'UTR Variant of the PHOX2B Gene Is Associated With Infant Life-Threatening and Sudden Death Events in the Italian Population

Systemic oxidative stress in congenital central hypoventilation syndrome

Sleeping problems in mothers and fathers of patients suffering from congenital central hypoventilation syndrome

Proceedings of the fourth international conference on central hypoventilation

Sudden unexpected perinatal collapse and sudden unexpected early neonatal death

Telemonitoring for infants at risk of apnoea, bradycardia and hypoxaemia: transmission of data improves the family compliance during home monitoring

Fog-induced Cough with Impaired Respiratory Sensation in Congenital Central Hypoventilation Syndrome

Comparison between pulse oximetry and transthoracic impedance alarm traces during home monitoring

Head covering, sweating, and the risk of sudden infant death syndrome

International Child Care Practices Study: Breastfeeding and Pacifier Use

International Child Care Practices Study: infant sleeping environment

Cough in children with congenital central hypoventilation syndrome

Mutational analysis of the RNX gene in congenital central hypoventilation syndrome

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