E. Pisaneschi

发表

A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing

G. Zambruno, J. Hertz, D. Castiglia, 2011, The British journal of dermatology.

Next-Generation Sequencing Identifies Different Genetic Defects in 2 Patients with Primary Adrenal Insufficiency and Gonadotropin-Independent Precocious Puberty

A. Novelli, S. Loche, M. Mucciolo, 2018, Hormone Research in Paediatrics.

KBG syndrome: Common and uncommon clinical features based on 31 new patients

M. Digilio, B. Dallapiccola, M. Rinelli, 2020, American journal of medical genetics. Part A.

Trichothiodystrophy and Chiari malformation type I in a child: more than a coincidence?

G. Zambruno, S. Giancristoforo, B. Spacca, 2019, European Journal of Dermatology.

Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis

J. Fischer, M. Castori, G. Zambruno, 2009, Clinical genetics.

First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses

S. Rossi, G. Zambruno, D. Castiglia, 2020, International journal of molecular sciences.

Hoarse cry in a newborn with epidermolysis bullosa simplex, generalized severe

R. Boldrini, G. Zambruno, S. Giancristoforo, 2020, Pediatric dermatology.

M. El Hachem, A. Diociaiuti, C. Carnevale, 2022, Italian Journal of Pediatrics.

Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study

A. Novelli, G. Zambruno, C. Quintarelli, 2022, Biomedicines.

X‐linked ichthyosis: Clinical and molecular findings in 35 Italian patients

A. Novelli, G. Zambruno, V. Alesi, 2018, Experimental dermatology.

Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization

M. Digilio, B. Dallapiccola, A. Novelli, 2017, Cytogenetic and Genome Research.

Angioma serpiginosum: a case report and review of the literature

M. Cutrone, I. Neri, R. de Vito, 2019, Italian Journal of Pediatrics.

RSPO1-mutated fibroblasts from non-tumoural areas of palmoplantar keratoderma display a cancer-associated phenotype

E. Dellambra, M. Teson, L. Guerra, 2021, European Journal of Dermatology.

Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis

R. Boldrini, S. Giancristoforo, A. Angioni, 2016, Orphanet Journal of Rare Diseases.

Immunofluorescence mapping, electron microscopy and genetics in the diagnosis and sub‐classification of inherited epidermolysis bullosa: a single‐centre retrospective comparative study of 87 cases with long‐term follow‐up

R. Boldrini, S. Rossi, A. Novelli, 2020, Journal of the European Academy of Dermatology and Venereology : JEADV.

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency

A. Novelli, M. Mucciolo, M. Cappa, 2017, Italian Journal of Pediatrics.

Novel clinical features associated with Clouston syndrome

M. Digilio, C. Willoughby, M. Rinelli, 2019, International journal of dermatology.

Kabuki syndrome: clinical and molecular diagnosis in the first year of life

M. Digilio, B. Dallapiccola, R. Capolino, 2014, Archives of Disease in Childhood.

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

Tiziana Franchin, Bruno Dallapiccola, Maria Cristina Digilio, 2014, BMC Medical Genetics.

Low-Rate Repetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affected by Recessive Myotonia Congenita

M. Lo Monaco, A. D’Amico, E. Valente, 2011, Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society.

A pediatric case of TEK-Related malformations and marfanoid habitus: an incidental finding or a feature?

R. Capolino, A. Novelli, G. Mastrogiorgio, 2022, Lymphology.

Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome

M. Tartaglia, L. Garavelli, A. Novelli, 2023, Genes.

Teledermatology diagnosis of the first Italian patient affected with restrictive dermopathy due to ZMPSTE24 homozygous mutation

G. Zambruno, S. Giancristoforo, M. El Hachem, 2018, Journal of the European Academy of Dermatology and Venereology : JEADV.

Ichthyosis prematurity syndrome ( IPS ) ( OMIM # 608649 ) is a rare autosomal recessively inherited syndromic ichthyosis

R. Boldrini, A. Novelli, D. Castiglia, 2022 .

Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.

A. Masotti, B. Dallapiccola, P. Uva, 2015, American journal of human genetics.

Telomere shortening and telomere position effect in mild ring 17 syndrome

Letizia Da Sacco, A. Masotti, M. Digilio, 2014, Epigenetics & Chromatin.

Telomere shortening and telomere position effect in mild ring 17 syndrome

Andrea Masotti, Cecilia Surace, Maria Cristina Digilio, 2014, Epigenetics & Chromatin.

Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient.

R. Boldrini, A. Novelli, D. Castiglia, 2018, Acta dermato-venereologica.

Neurodevelopmental and genetic findings in neonates with intracranial arteriovenous shunts: A case series

D. Longo, S. Pro, M. Digilio, 2023, Frontiers in Pediatrics.

Congenital heart defects in molecularly proven Kabuki syndrome patients

M. Digilio, B. Dallapiccola, R. Capolino, 2017, American journal of medical genetics. Part A.

CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon

M. Digilio, B. Dallapiccola, F. Lepri, 2015, BMC Medical Genetics.

Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos

P. Fortunato, S. Giglio, Francesca Peluso, 2020, Ophthalmic genetics.

Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis

R. Boldrini, A. Novelli, G. Zambruno, 2018, Journal of the European Academy of Dermatology and Venereology : JEADV.

Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa.

I. Torrente, M. Castori, M. Paradisi, 2008, Journal of dermatological science.

ITGB4-mutated Junctional Epidermolysis Bullosa without Pyloric Atresia Presenting with Severe Urinary Involvement and Late-onset Minimal Skin Fragility: Diagnostic and Therapeutic Challenges

G. Zambruno, G. Mattioli, M. Carlucci, 2022, Acta dermato-venereologica.

Autosomal recessive epidermolysis bullosa simplex due to EXPH5 mutation: neonatal diagnosis of the first Italian case and literature review

S. Rossi, G. Zambruno, M. El Hachem, 2020, Journal of the European Academy of Dermatology and Venereology : JEADV.

Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases.

M. Di Stazio, C. Willoughby, A. Novelli, 2023, Italian journal of dermatology and venereology.

TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.

A. Novelli, P. Witters, B. Ghesquière, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization

S. Rossi, D. Martinelli, G. Zambruno, 2021, Genes.