List of works - Flavio Faletra

"Blaschkoid dyspigmentation" in a child: don't forget fibroblast chromosomal analysis

scientific article

A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome

scientific article published in June 2016

A Girl with Photosensitivity and Hepatic Steatosis

scientific article published on 03 April 2014

A brain and heart connection: X-linked periventricular heterotopia.

scientific article published on 31 December 2014

A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation

scientific article

A neonate with a 'milky' blood. What can it be?

scientific article published on 19 April 2014

A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature

scientific article

A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family

scientific article published on 30 July 2012

A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.

scientific article

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta

scientific article published on 14 May 2014

A red baby should not be taken too lightly

scientific article published on 23 September 2012

A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements

scientific article published on 01 March 2012

Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.

scientific article

Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.

scientific article

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis

scientific article published on 21 May 2015

Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations

scientific article published on 22 December 2012

Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort.

scientific article published on 16 March 2013

Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.

scientific article published on 28 October 2011

De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature

scientific article published on 2 December 2011

Delayed diagnosis of glycogen storage disease type III

scientific article published on 01 January 2012

Detection of epidermal thickening in GJB2 carriers with epidermal US.

scientific article

Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?

scientific article published on 3 December 2008

Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature

article

Evidence of inbreeding depression on human height

scientific article

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

scientific article published on 18 September 2014

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

scientific article published in 2022

Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening

scientific article published on 30 January 2014

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

scientific article

Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations

scientific article published on 21 April 2011

Identification of a New Mutation (L46P) in the Human <b><i>NOG</i></b> Gene in an Italian Patient with Symphalangism Syndrome ⬇️

scientific article published on April 11, 2012

Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene

scientific article published on 9 February 2009

Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population

scientific article published on 22 October 2020

Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series

scientific article published on 25 May 2019

Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism

scientific article published on 7 November 2012

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

scientific article

Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss

scientific article published on 13 July 2019

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.

scientific article published on 19 July 2017

PMM2-CDG: phenotype and genotype in four affected family members

scientific article published on 26 August 2013

Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature

scientific article published on 14 April 2017

Phylloid Pattern of Hypomelanosis Closely Related to Chromosomal Abnormalities in the 13q Detected by SNP Array Analysis

scientific article published on 24 October 2012

TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome

scientific article published on 24 May 2012

Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability

scholarly article by Anna Morgan published in November 2015

The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge

scientific article published on 14 March 2022

There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss

scientific article published in 2021

Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome.

scientific article

Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results

scientific article published on 11 August 2015

Type I interferon-mediated autoinflammation due to DNase II deficiency

scientific article published on 19 December 2017

Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL

scientific article published on 14 June 2011

When fingers point to the diagnosis

scientific article published on 10 August 2019

List of works by Flavio Faletra

"Blaschkoid dyspigmentation" in a child: don't forget fibroblast chromosomal analysis

A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome

A Girl with Photosensitivity and Hepatic Steatosis

A brain and heart connection: X-linked periventricular heterotopia.

A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation

A neonate with a 'milky' blood. What can it be?

A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature

A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family

A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta

A red baby should not be taken too lightly

A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements

Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.

Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis

Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations

Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort.

Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.

De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature

Delayed diagnosis of glycogen storage disease type III

Detection of epidermal thickening in GJB2 carriers with epidermal US.

Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?

Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature

Evidence of inbreeding depression on human height

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations

Identification of a New Mutation (L46P) in the Human &lt;b&gt;&lt;i&gt;NOG&lt;/i&gt;&lt;/b&gt; Gene in an Italian Patient with Symphalangism Syndrome ⬇️

Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene

Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population

Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series

Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.

PMM2-CDG: phenotype and genotype in four affected family members

Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature

Phylloid Pattern of Hypomelanosis Closely Related to Chromosomal Abnormalities in the 13q Detected by SNP Array Analysis

TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome

Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability

The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge

There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss

Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome.

Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results

Type I interferon-mediated autoinflammation due to DNase II deficiency

Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL

When fingers point to the diagnosis

Identification of a New Mutation (L46P) in the Human <b><i>NOG</i></b> Gene in an Italian Patient with Symphalangism Syndrome ⬇️