Lista de obras -

A Child with Diminished Linear Growth and Waddling Gait

scientific article published on 08 May 2018

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

artículo científico publicado en 2017

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.

artículo científico publicado en 2016

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

artículo científico publicado en 2012

Anti-Hypothalamus and Anti-Pituitary Auto-antibodies in ROHHAD Syndrome: Additional Evidence Supporting an Autoimmune Etiopathogenesis

article

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

scientific journal article

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

artículo científico publicado en 2017

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy

artículo científico publicado en 2017

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

scientific article published on 26 February 2014

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

artículo científico publicado en 2022

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency

artículo científico publicado en 2017

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

artículo científico publicado en 2020

DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.

artículo científico publicado en 2016

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

scientific article published on 11 July 2019

De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation

artículo científico publicado en 2017

Epidemiological study of nonsyndromic hearing loss in Sicilian newborns

scientific article published on 01 July 2007

Evaluation of serum CA 125 levels in patients with pelvic pain related to endometriosis

artículo científico publicado en 2007

Expanding the clinical spectrum associated with PACS2 mutations

artículo científico publicado en 2019

Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.

artículo científico publicado en 2016

Glucose 6-phosphate dehydrogenase Palermo R257M: a novel variant associated with chronic non-spherocytic haemolytic anaemia.

artículo científico publicado en 2010

Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III

scientific article published on 01 August 2009

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

artículo científico publicado en 2016

MTHFR C677T homozygous as risk factor for complications after OLT for cryptogenic cirrhosis

artículo científico publicado en 2006

Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.

artículo científico publicado en 2016

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

artículo científico publicado en 2015

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

artículo científico publicado en 2017

Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

artículo científico publicado en 2016

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations

artículo científico publicado en 2019

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

artículo científico publicado en 2017

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

artículo científico publicado en 2016

Persistent episomal transgene expression in liver following delivery of a scaffold/matrix attachment region containing non-viral vector.

artículo científico publicado en 2008

Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.

artículo científico publicado en 2008

Refractory acne and 21-hydroxylase deficiency in a selected group of female patients.

artículo científico publicado en 2010

Skeletal abnormalities are common features in Aymé-Gripp syndrome

artículo científico publicado en 2019

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders

scientific article published on 22 July 2017

TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations

artículo científico publicado en 2018

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

scientific journal article

Vitiligo susceptibility and catalase gene polymorphisms in Sicilian population

article

Lista de obras de

A Child with Diminished Linear Growth and Waddling Gait

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.

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

Anti-Hypothalamus and Anti-Pituitary Auto-antibodies in ROHHAD Syndrome: Additional Evidence Supporting an Autoimmune Etiopathogenesis

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation

Epidemiological study of nonsyndromic hearing loss in Sicilian newborns

Evaluation of serum CA 125 levels in patients with pelvic pain related to endometriosis

Expanding the clinical spectrum associated with PACS2 mutations

Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.

Glucose 6-phosphate dehydrogenase Palermo R257M: a novel variant associated with chronic non-spherocytic haemolytic anaemia.

Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

MTHFR C677T homozygous as risk factor for complications after OLT for cryptogenic cirrhosis

Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

Persistent episomal transgene expression in liver following delivery of a scaffold/matrix attachment region containing non-viral vector.

Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.

Refractory acne and 21-hydroxylase deficiency in a selected group of female patients.

Skeletal abnormalities are common features in Aymé-Gripp syndrome

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders

TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

Vitiligo susceptibility and catalase gene polymorphisms in Sicilian population