List of works - Daniela Melis

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes

scientific article published on March 2016

A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment

scientific article published in May 2018

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome

scientific article published on January 2012

A systematic review and meta-analysis of 130,000 individuals shows smoking does not modify the association of APOE genotype on risk of coronary heart disease

scientific article

Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family

scientific article published on October 2013

An emerging phenotype of proximal 11q deletions ⬇️

scientific article published on August 3, 2010

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

scientific article published on 13 May 2015

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

scientific article

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene

scientific article

Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?

scientific article published on 16 November 2012

Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation

scientific article

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders

scientific article published on 31 July 2019

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

scientific article published on 26 October 2019

Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review

scientific article published on 19 December 2013

Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome

scientific article

Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function.

scientific article

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes

scientific article published on 04 March 2019

Effect of long-term GH treatment in a patient with CHARGE association

scientific article

Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature

scientific article

Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation

scientific article published on 29 July 2015

Identification of two novel splice‐site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype ⬇️

scientific article published on March 17, 2013

Il turismo come opportunità di rigenerazione sostenibile dei centri storici minori ⬇️

scholarly article

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).

scientific article published on 16 March 2018

Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity

scientific article

Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1

scientific article published on 15 November 2019

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

scientific article published on 17 May 2013

Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.

scientific article

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

scientific article published on 9 June 2011

Mutation update for the SATB2 gene

article

Mutations in ZBTB20 cause Primrose syndrome

scientific article

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

scientific article

Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease

scientific article published on 04 September 2019

Primrose Syndrome: characterization of the phenotype in 42 patients

scientific article published on 08 April 2020

Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian study

scientific article published on 29 January 2015

Reduced bone mineral density in glycogen storage disease type III: evidence for a possible connection between metabolic imbalance and bone homeostasis

scientific article

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan

scientific article published on 08 January 2014

Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib.

scientific article published on 30 June 2015

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.

scientific article published on 12 July 2018

List of works by Daniela Melis

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes

A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome

A systematic review and meta-analysis of 130,000 individuals shows smoking does not modify the association of APOE genotype on risk of coronary heart disease

Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family

An emerging phenotype of proximal 11q deletions ⬇️

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene

Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?

Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review

Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome

Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function.

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes

Effect of long-term GH treatment in a patient with CHARGE association

Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature

Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation

Identification of two novel splice‐site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype ⬇️

Il turismo come opportunità di rigenerazione sostenibile dei centri storici minori ⬇️

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).

Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity

Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

Mutation update for the SATB2 gene

Mutations in ZBTB20 cause Primrose syndrome

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease

Primrose Syndrome: characterization of the phenotype in 42 patients

Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian study

Reduced bone mineral density in glycogen storage disease type III: evidence for a possible connection between metabolic imbalance and bone homeostasis

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan

Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib.

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.