Elisa Pisaneschi
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View article: Multiple pyogenic granulomas on arteriovenous malformation associated with <i>NRAS</i> mutation
Multiple pyogenic granulomas on arteriovenous malformation associated with <i>NRAS</i> mutation Open
View article: Correction to: Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
Correction to: Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA Open
View article: Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA Open
View article: Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency
Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency Open
Chromosomal structural rearrangements consist of anomalies in genomic architecture that may or may not be associated with genetic material gain and loss. Evaluating the precise breakpoint is crucial from a diagnostic point of view, highlig…
View article: Prenatal identification of a pathogenic maternal <i>FGFR1</i> variant in two consecutive pregnancies with fetal forebrain malformations
Prenatal identification of a pathogenic maternal <i>FGFR1</i> variant in two consecutive pregnancies with fetal forebrain malformations Open
The presented case supports the role of exome sequencing in prenatal diagnosis when fetal midline structural anomalies are suggestive of a genetic etiology, as early as the first trimester of gestation. The profound heterogeneity of FGF…
View article: Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients
Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients Open
Background: Autosomal recessive congenital ichthyoses (ARCIs) are a clinically heterogeneous group of keratinization disorders characterized by generalized skin scaling due to mutations in at least 12 genes. The aim of our st…
View article: A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum
A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum Open
POLR3B encodes the RPC2 subunit of RNA polymerase III. Pathogenic variants are associated with biallelic hypomyelinating leukodystrophy belonging to the POLR-related disorders. Recently, the association with dominant demyelinating neuropat…
View article: A Particular Case of Autosomal Recessive Progressive Symmetrical Erythrokeratodermia (PSEK) and a Review of the Literature.
A Particular Case of Autosomal Recessive Progressive Symmetrical Erythrokeratodermia (PSEK) and a Review of the Literature. Open
Case report A A 10-year-old female patient born from non-consanguineous healthy parents after a regular pregnancy developed, at the age of 3 months, diffuse hyperkeratotic, pruritic plaques on her face, forearms, wrists, perineal and sacra…
View article: Novel <i>EDA</i> mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela
Novel <i>EDA</i> mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela Open
We present what, to the best of our knowledge, is the first clinical and molecular genetic analysis of X-linked hypohidrotic ectodermal dysplasia from the Venezuelan population. We analysed two families exhibiting classic clinical symptoms…
View article: Neurodevelopmental and genetic findings in neonates with intracranial arteriovenous shunts: A case series
Neurodevelopmental and genetic findings in neonates with intracranial arteriovenous shunts: A case series Open
Background Despite the latest advances in prenatal diagnosis and postnatal embolization procedures, intracranial arteriovenous shunts (AVSs) are still associated with high mortality and morbidity rates. Our aim was to evaluate the presenta…
View article: Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome Open
Pathogenic variants in RASA1 are typically associated with a clinical condition called “capillary malformation-arteriovenous malformation” (CM-AVM) syndrome, an autosomal dominant genetic disease characterized by a broad phenotypic variabi…
View article: A PEDIATRIC CASE OF TEK-RELATED MALFORMATIONS AND MARFANOID HABITUS: AN INCIDENTAL FINDING OR A FEATURE?
A PEDIATRIC CASE OF TEK-RELATED MALFORMATIONS AND MARFANOID HABITUS: AN INCIDENTAL FINDING OR A FEATURE? Open
Vascular malformations encompass a wide range of complex vascular lesions. Due to the extreme variability of clinical presentation, classification and their related syndromes presents a challenge. Here we describe a case of a boy presentin…
View article: Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study
Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study Open
Sporadic vascular malformations (VMs) are a large group of disorders of the blood and lymphatic vessels caused by somatic mutations in several genes—mainly regulating the RAS/MAPK/ERK and PI3K/AKT/mTOR pathways. We performed a cross-sectio…
View article: PIK3CA-related overgrowth with an uncommon phenotype: case report
PIK3CA-related overgrowth with an uncommon phenotype: case report Open
Background Megalencephaly-capillary malformation syndrome is a rare multiple-malformation syndrome secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway. This is included in a heterogeneous group of disorders, now defined …
View article: ITGB4-mutated Junctional Epidermolysis Bullosa without Pyloric Atresia Presenting with Severe Urinary Involvement and Late-onset Minimal Skin Fragility: Diagnostic and Therapeutic Challenges
ITGB4-mutated Junctional Epidermolysis Bullosa without Pyloric Atresia Presenting with Severe Urinary Involvement and Late-onset Minimal Skin Fragility: Diagnostic and Therapeutic Challenges Open
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View article: Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization
Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization Open
Elongation of Very Long Chain Fatty Acid-4 (ELOVL4) is a fatty acid elongase responsible for very long-chain fatty acid biosynthesis in the brain, retina, and skin. Heterozygous mutations in ELOVL4 gene cause Stargardt-like macular dystrop…
View article: First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses
First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses Open
Keratinopathic ichthyoses (KI) are a clinically heterogeneous group of keratinization disorders due to mutations in KRT1, KTR10, or KRT2 genes encoding keratins of suprabasal epidermis. Characteristic clinical features include superficial …
View article: Novel clinical features associated with Clouston syndrome
Novel clinical features associated with Clouston syndrome Open
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View article: Angioma serpiginosum: a case report and review of the literature
Angioma serpiginosum: a case report and review of the literature Open
Our patient presented a peculiar symmetrical and planar extension with a serpiginous linear pattern. The proliferative nature of this condition has been widely discussed in literature. In our case immunohistochemistry was positive for Wilm…
View article: Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene
Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene Open
View article: A rare mutation of retinoic acid receptor-β associated with lethal neonatal Matthew-Wood syndrome
A rare mutation of retinoic acid receptor-β associated with lethal neonatal Matthew-Wood syndrome Open
View article: Supplementary Material for: Next-Generation Sequencing Identifies Different Genetic Defects in 2 Patients with Primary Adrenal Insufficiency and Gonadotropin-Independent Precocious Puberty
Supplementary Material for: Next-Generation Sequencing Identifies Different Genetic Defects in 2 Patients with Primary Adrenal Insufficiency and Gonadotropin-Independent Precocious Puberty Open
Background: The development of gonadotropin-independent (peripheral) precocious puberty in male children with primary adrenal insufficiency (PAI) is consistent with a defect in the genes encoding for the enzymes involved in s…
View article: Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient
Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient Open
View article: Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency
Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency Open
View article: Contents Vol. 151, 2017
Contents Vol. 151, 2017 Open
View article: Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis Open
The possibility to analyze a large number of genes associated with various diseases allows to study cases with phenotypes not well-determined, giving the opportunity to make new genotype-phenotype correlation. In some cases there were disc…
View article: Inflammatory Cytokine response in a cohort of patients carrying novel NLRP12 variants
Inflammatory Cytokine response in a cohort of patients carrying novel NLRP12 variants Open
View article: Single center experience in Next Generation Sequencing for genetic diagnosis of Autoinflammatory Disorders (AIDs)
Single center experience in Next Generation Sequencing for genetic diagnosis of Autoinflammatory Disorders (AIDs) Open
Autoinflammatory disorders (AIDs) represent an expanding group of complex diseases characterized by periodic or chronic systemic inflammations. Mutations in more than 15 geneshave been associated with autoinflammatory recessive or dominant…
View article: CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon
CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon Open
View article: Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6
Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6 Open