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WS06.3 Involvement of gap junctions in the recovery of cystic fibrosis-associated defects upon co-culture of human amniotic mesenchymal stem cells with F508del airway epithelial cells

Journal of cystic fibrosis, 2016-06, Vol.15, p.S10-S10

2016

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Spontaneous hypoglycemia in patients with cystic fibrosis

European journal of endocrinology, 2007-03, Vol.156 (3), p.369

2007

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Association of the CLCA1 p.S357N Variant With Meconium Ileus in European Patients With Cystic Fibrosis

Journal of pediatric gastroenterology and nutrition, 2010-03, Vol.50 (3), p.347-349

2010

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An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: A multicentre study

Digestive and liver disease, 2009-11, Vol.41 (11), p.817-822

2009

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The Italian National External Quality Assessment Program in Molecular Genetic Testing: Results of the VII Round (2010-2011)

BioMed research international, 2013-01, Vol.2013, p.739010-8

2013

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Feasibility of polar-body PGD for thalassemia through a model of parthenogenetic activation

Fertility and sterility, 2010, Vol.94 (4), p.S124-S125

2010

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WS15.3 Human amniotic mesenchymal stem cells modify the function and cytokine production of F508del airway epithelial cells upon coculture

Journal of cystic fibrosis, 2013-06, Vol.12, p.S30-S30

2013

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Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions

Clinical genetics, 2008-04, Vol.73 (4), p.346-352

2008

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P34 Parthenogenetic activation of human oocytes as a model for PB-PGD

Reproductive biomedicine online, 2010, Vol.20, p.S34-S34

2010

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WS14.3 Human amniotic mesenchymal stem cells can partially correct the cystic fibrosis phenotype upon coculture with F508del airway epithelial cells

Journal of cystic fibrosis, 2012-06, Vol.11, p.S31-S31

2012

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Different algorithms for CF newborn screening (NBS): a retrospective evaluation

Journal of cystic fibrosis, 2010, Vol.9, p.S6-S6

2010

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Recommendations for the classification of diseases as CFTR-related disorders

Journal of cystic fibrosis, 2011-06, Vol.10, p.S86-S102

2011

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60. FOUR YEARS EXPERIENCE OF PREIMPLANTATION GENETIC TESTING OF FOUR MONOGENIC DISORDERS (CYSTIC FIBROSIS, BETA-THALASSAEMIA, HEMOPHILIA A AND B)

Reproductive biomedicine online, 2019-08, Vol.39, p.e63-e64

2019

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23 Differences in blood immunoreactive trypsinogen concentrations and genotype in hypertrypsinaemic neonates

Journal of cystic fibrosis, 2011, Vol.10, p.S6-S6

2011

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WS20-4 Cystic fibrosis screen-positive, inconclusive diagnosis (CF-SPID): diagnostic and clinical data from a cohort of screened infants

Journal of cystic fibrosis, 2019-06, Vol.18, p.S38-S38

2019

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mRNA analysis of CFTR: a diagnostic approach

Journal of cystic fibrosis, 2010, Vol.9, p.S2-S2

2010

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Parthenogenetic activation of human oocytes as a model of polar bodies PGD feasibility for CF

Journal of cystic fibrosis, 2010, Vol.9, p.S13-S13

2010

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Molecular strategy in hyperechogenic fetal bowel

Journal of cystic fibrosis, 2008-06, Vol.7, p.S12-S12

2008

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Cystic Fibrosis incidence in Lombardy over a seven year period

Journal of cystic fibrosis, 2009, Vol.8, p.S14-S14

2009

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A QUALITATIVE CHARACTERIZATION OF THE CFTR GENE BY mRNA ANALYSIS

Journal of cystic fibrosis, 2008-07, Vol.7, p.S11-S11

2008

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6 Large CFTR gene rearrangements in Italian population

Journal of cystic fibrosis, 2007, Vol.6, p.S2-S2

2007

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Screening for cystic fibrosis in newborn infants: results of a pilot programme based on a two tier protocol (IRT/DNA/IRT) in the Italian population

Journal of medical screening, 2002-01, Vol.9 (2), p.60-63

2002

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Non-invasive prenatal diagnosis of genetic diseases by advanced technologies

Clinical biochemistry, 2013-08, Vol.46 (12), p.1154-1155

2013

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A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis

Human mutation, 2000-05, Vol.15 (5), p.485-485

2000

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A novel deletion in exon 12 (g1845delAG or g1846delGA) of the CFTR (ABCC7) gene in a CF infant presenting with meconium ileus

Human mutation, 2000-09, Vol.16 (3), p.279-279

2000

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WS06.3 Involvement of gap junctions in the recovery of cystic fibrosis-associated defects upon co-culture of human amniotic mesenchymal stem cells with F508del airway epithelial cells

Spontaneous hypoglycemia in patients with cystic fibrosis

Association of the CLCA1 p.S357N Variant With Meconium Ileus in European Patients With Cystic Fibrosis

An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: A multicentre study

The Italian National External Quality Assessment Program in Molecular Genetic Testing: Results of the VII Round (2010-2011)

Feasibility of polar-body PGD for thalassemia through a model of parthenogenetic activation

WS15.3 Human amniotic mesenchymal stem cells modify the function and cytokine production of F508del airway epithelial cells upon coculture

Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions

P34 Parthenogenetic activation of human oocytes as a model for PB-PGD

WS14.3 Human amniotic mesenchymal stem cells can partially correct the cystic fibrosis phenotype upon coculture with F508del airway epithelial cells

Different algorithms for CF newborn screening (NBS): a retrospective evaluation

Recommendations for the classification of diseases as CFTR-related disorders

60. FOUR YEARS EXPERIENCE OF PREIMPLANTATION GENETIC TESTING OF FOUR MONOGENIC DISORDERS (CYSTIC FIBROSIS, BETA-THALASSAEMIA, HEMOPHILIA A AND B)

23 Differences in blood immunoreactive trypsinogen concentrations and genotype in hypertrypsinaemic neonates

WS20-4 Cystic fibrosis screen-positive, inconclusive diagnosis (CF-SPID): diagnostic and clinical data from a cohort of screened infants

mRNA analysis of CFTR: a diagnostic approach

Parthenogenetic activation of human oocytes as a model of polar bodies PGD feasibility for CF

Molecular strategy in hyperechogenic fetal bowel

Cystic Fibrosis incidence in Lombardy over a seven year period

A QUALITATIVE CHARACTERIZATION OF THE CFTR GENE BY mRNA ANALYSIS

6 Large CFTR gene rearrangements in Italian population

Screening for cystic fibrosis in newborn infants: results of a pilot programme based on a two tier protocol (IRT/DNA/IRT) in the Italian population

Non-invasive prenatal diagnosis of genetic diseases by advanced technologies

A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis

A novel deletion in exon 12 (g1845delAG or g1846delGA) of the CFTR (ABCC7) gene in a CF infant presenting with meconium ileus

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