Lista de obras - Flavio Faletra - Dominio Público Uruguay

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

artículo científico publicado en 2014

A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome

artículo científico publicado en 2016

A Girl with Photosensitivity and Hepatic Steatosis

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

A red baby should not be taken too lightly

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

Delayed diagnosis of glycogen storage disease type III

artículo científico publicado en 2012

Detection of epidermal thickening in GJB2 carriers with epidermal US.

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2022

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations

artículo científico publicado en 2011

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

artículo científico publicado el 11 de abril de 2012

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

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

artículo científico

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome

artículo científico publicado en 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

artículo científico publicado en 2022

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

artículo científico publicado en 2021

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Type I interferon-mediated autoinflammation due to DNase II deficiency

artículo científico publicado en 2017

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

artículo científico publicado en 2011

When fingers point to the diagnosis

scientific article published on 10 August 2019

Lista de obras de 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 ⬇️