Anna Ficcadenti

Ancona, Italy

Last Updated: 09/26/2026

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Found 11 publications

Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS.

Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS.

Journal: Frontiers in neurology

Published: September 12, 2018

Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.

Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: January 22, 2018

Italian multicentre study found infectious and vaccine-preventable diseases in children adopted from Africa and recommends prompt medical screening.

Italian multicentre study found infectious and vaccine-preventable diseases in children adopted from Africa and recommends prompt medical screening.

Journal: Acta paediatrica (Oslo, Norway : 1992)

Published: August 21, 2017

12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment.

12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment.

Journal: BMC medical genetics

Published: November 21, 2015

Bone density assessment in a cohort of pediatric patients affected by 22q11DS.

Bone density assessment in a cohort of pediatric patients affected by 22q11DS.

Journal: Journal of endocrinological investigation

Published: January 08, 2015

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.

Journal: Clinical genetics

Published: July 28, 2014

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.

Journal: European journal of human genetics : EJHG

Published: June 17, 2014

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

Journal: Molecular genetics and metabolism

Published: March 18, 2014

Hunter syndrome (Mucopolysaccharidosis type II), severe phenotype: long term follow-up on patients undergone to hematopoietic stem cell transplantation.

Hunter syndrome (Mucopolysaccharidosis type II), severe phenotype: long term follow-up on patients undergone to hematopoietic stem cell transplantation.

Journal: Minerva pediatrica

Published: September 24, 2013

Cognitive-motor profile, clinical characteristics and diagnosis of CHARGE syndrome: an Italian experience.

Cognitive-motor profile, clinical characteristics and diagnosis of CHARGE syndrome: an Italian experience.

Journal: American journal of medical genetics. Part A

Published: June 27, 2013

Optimal position of a long-term central venous catheter tip in a pediatric patient with congenital diseases.

Optimal position of a long-term central venous catheter tip in a pediatric patient with congenital diseases.

Journal: Pediatric reports

Published: April 30, 2012

Showing 1-11 of 11

Last Updated: 09/26/2026