Daniela Orteschi

发表

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients

Marni J. Falk, E. Zackai, E. Mercuri, 2015, Journal of Medical Genetics.

E. Lucci-Cordisco, G. Neri, D. Orteschi, 2012, American journal of medical genetics. Part A.

A. Coppola, N. Brunetti‐Pierri, V. Capra, 2023, European Journal of Human Genetics.

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

E. Mercuri, G. Neri, P. Chiurazzi, 2012, Nature Genetics.

Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: A co‐morbidity model with additional copy number variations in a large family

M. Zollino, G. Marangi, G. Mancano, 2013, American journal of medical genetics. Part A.

A novel truncating variant within exon 7 of KAT6B associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B‐related disorders

M. D. Di Giacomo, D. Orteschi, M. Zollino, 2018, American journal of medical genetics. Part A.

Mild Wolf–Hirschhorn phenotype in a girl with unbalanced t(4p;12p) translocation without seizures

P. Curatolo, D. Orteschi, M. Zollino, 2010, American journal of medical genetics. Part A.

Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature

S. Bernasconi, M. P. Sperandeo, L. Garavelli, 2009, American journal of medical genetics. Part A.

Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples

E. Mercuri, D. Orteschi, M. Zollino, 2017, Front. Neurosci..

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.

E. Zackai, M. Harr, B. Keena, 2017, European journal of medical genetics.

Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring–Opitz syndromes

J. Opitz, J. Dopazo, A. Alemán, 2016, American journal of medical genetics. Part A.

Enhancer Chip: Detecting Human Copy Number Variations in Regulatory Elements

G. Neri, G. Piluso, T. Giugliano, 2012, PloS one.

Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis.

F. Eusebi, C. Limatola, A. Al-Chalabi, 2009, Human molecular genetics.

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

Paola Visconti, Marcella Zollino, Luigi Boccuto, 2012, European Journal of Human Genetics.

Pembrolizumab as first-line treatment for metastatic uveal melanoma

G. Tortora, G. Schinzari, A. Cassano, 2019, Cancer Immunology, Immunotherapy.

Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8

D. Orteschi, M. Zollino, D. Battaglia, 2023, Genes.

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

E. Mercuri, A. Slavotinek, Emanuela Ponzi, 2015, European Journal of Human Genetics.

Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

R. Tenconi, G. Neri, S. Savasta, 2007, Human Genetics.

An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss

R. Carrozzo, G. Stevanin, G. Grieco, 2009, neurogenetics.

Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis

M. Pane, E. Mercuri, E. Musto, 2021, Genes.

The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use

M. Genuardi, E. Rossi, G. Scambia, 2017, PloS one.

Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype.

M. Genuardi, F. Gurrieri, Emanuela Ponzi, 2015, European journal of medical genetics.

The Pitt‐Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria

R. Pettinato, C. Romano, G. Vasco, 2011, American journal of medical genetics. Part A.

G. Neri, V. Leuzzi, D. Orteschi, 2012, European Journal of Human Genetics.

Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf‐Hirschhorn syndrome–associated seizures disorder

R. Pfundt, S. Ricciardi, C. Cafiero, 2014, Epilepsia.

Gene Expression Profile of Glioblastoma Peritumoral Tissue: An Ex Vivo Study

Carmelo Anile, Giulio Maira, Marcella Zollino, 2013, PloS one.

Expanding the Spectrum of Rearrangements Involving Chromosome 19: A Mild Phenotype Associated with a 19p13.12–p13.13 Deletion

C. Walsh, G. Neri, J. Felie, 2012, American journal of medical genetics. Part A.

A case of Beckwith–Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus

G. Neri, A. Riccio, D. Orteschi, 2009, Journal of Medical Genetics.

Early onset myoclonic epilepsy and 15q26 microdeletion: Observation of the first case

F. Bianco, D. Lettori, F. Guzzetta, 2009, Epilepsia.

Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome

G. Zampino, S. Ricciardi, C. Graziano, 2020, Journal of Medical Genetics.

Investigating the “Fetal Side” in Recurrent Pregnancy Loss: Reliability of Cell-Free DNA Testing in Detecting Chromosomal Abnormalities of Miscarriage Tissue

N. Di Simone, D. Orteschi, M. Zollino, 2023, Journal of clinical medicine.

Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome

E. Giustina, C. Fusco, G. Gobbi, 2010, Epileptic disorders : international epilepsy journal with videotape.

Proposal of a clinical score for the molecular test for Pitt–Hopkins syndrome

G. Vasco, R. Tenconi, G. Scarano, 2012, American journal of medical genetics. Part A.

Pathogenic variants in SOX11 mimicking Pitt‐Hopkins syndrome phenotype

P. Chiurazzi, M. Morleo, M. Zollino, 2023, Clinical genetics.

Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature

C. Leoni, G. Zampino, I. Contaldo, 2024, Genes.

Chromosome 9p deletion syndrome and sex reversal: Novel findings and redefinition of the critically deleted regions

G. Neri, C. Fundarò, D. Orteschi, 2012, American journal of medical genetics. Part A.