I. Bestetti

发表

13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature

S. Manoukian, D. Milani, D. Giardino, 2018, Molecular Cytogenetics.

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome

C. Pantaleoni, F. Natacci, E. Cattaneo, 2022, International journal of molecular sciences.

Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes

G. Ferrero, A. Selicorni, A. Mussa, 2019, Front. Genet..

A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature

L. Persani, L. Larizza, P. Finelli, 2018, Journal of Endocrinological Investigation.

A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele

C. Pantaleoni, D. Milani, S. D'Arrigo, 2022, European Journal of Human Genetics.

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome

A. Selicorni, L. Larizza, P. Finelli, 2015, Molecular Cytogenetics.

GENOME WIDE ANALYSIS IN A COHORT OF 46,XX PATIENTS AFFECTED BY AN EXTREME PHENOTYPE OF PRIMARY OVARIAN INSUFFICIENCY: AN EFFICIENT TOOL TO IDENTIFY NEW GENES INVOLVED IN OOCYTE MATURATION AND DIFFERENTIATION

I. Bestetti, 2016 .

Lynch syndrome and Muir-Torre phenotype associated with a recurrent variant in the 3'UTR of the MSH6 gene.

A. Viel, R. Maestro, S. Radovic, 2021, Cancer genetics.

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

K. Weiss, S. Smithson, S. Maitz, 2020, Frontiers in Neurology.

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate

A. Novelli, A. Renieri, R. Genesio, 2019, Molecular genetics & genomic medicine.

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression

A. Novelli, L. Larizza, P. Finelli, 2019, neurogenetics.

3 microduplications lead to Neurodevelopmental Disorders through EHMT 1 overexpression

Milena, Crippa, A. Novelli, 2019 .

High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function

C. Caslini, D. Toniolo, C. Sala, 2019, Human reproduction.

Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency

A. Rajkovic, D. Toniolo, C. Barbieri, 2021, Human reproduction.

Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency

F. Brancati, L. Persani, I. Ferrari, 2020, Human mutation.

Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene

R. Guerrini, C. Parazzini, G. Palumbo, 2021, American journal of medical genetics. Part A.

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

G. Grassi, L. Larizza, P. Finelli, 2014, BMC Medical Genetics.

Complex de novo chromosomal rearrangement at 15q11–q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature

L. Larizza, P. Finelli, S. Russo, 2015, American journal of medical genetics. Part A.

Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)

P. Gasparini, L. Bernardini, A. Novelli, 2022, Prenatal diagnosis.

13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature

S. Manoukian, D. Milani, D. Giardino, 2018, Molecular Cytogenetics.

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome

A. Selicorni, L. Larizza, P. Finelli, 2015, Molecular Cytogenetics.

Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors

P. Peterlongo, S. Manoukian, P. L. Poliani, 2015, Scientific Reports.

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression

A. Novelli, L. Larizza, P. Finelli, 2019, neurogenetics.

Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome

Matteo Bellini, P. Finelli, M. Iascone, 2024, Frontiers in genetics.

When alpha spectrin null alleles meet low expression alpha spectrin polymorphisms

P. Bianchi, E. Fermo, C. Vercellati, 2023, British journal of haematology.

Human Mutation

F. Brancati, L. Persani, I. Ferrari, 2020 .