M. Masciadri

发表

Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype

L. Monti, F. Natacci, B. Bernardina, 2012, Molecular Cytogenetics.

Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation

G. Scarano, A. Bentivegna, A. Selicorni, 2007, Clinical genetics.

Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?

A. Verloes, A. Delahaye-Duriez, A. Selicorni, 2010, Clinical genetics.

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

R. Tenconi, G. Zampino, A. Selicorni, 2013, BMC Medical Genetics.

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

R. Tenconi, G. Scarano, O. Haas, 2012, European Journal of Human Genetics.

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.

A. Selicorni, L. Larizza, J. Azzollini, 2013, European journal of medical genetics.

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.

Sleep disorders in Cornelia de Lange syndrome

A. Vignoli, A. Selicorni, C. Gervasini, 2016, American journal of medical genetics. Part C, Seminars in medical genetics.

Expanding the clinical spectrum of the ‘HDAC8‐phenotype’ – implications for molecular diagnostics, counseling and risk prediction

T. Strom, D. Wieczorek, E. Watrin, 2016, Clinical genetics.

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.

Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A

R. D'Alessandro, M. Digilio, G. Limongelli, 2010, American journal of medical genetics. Part A.

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum

L. Garavelli, A. Selicorni, D. Melis, 2013, American journal of medical genetics. Part A.

Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS

A. Ficcadenti, D. Milani, L. Larizza, 2018, Front. Neurol..

A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype.

L. Larizza, S. Russo, N. Revencu, 2019, European journal of medical genetics.

Germline mosaicism in cornelia de lange syndrome: Dilemmas and risk figures

A. Selicorni, S. Maitz, C. Gervasini, 2013, American journal of medical genetics. Part A.

Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL

A. Bentivegna, F. Lalatta, L. Larizza, 2007, Genetics in Medicine.

Recent insights into genotype-phenotype relationships in patients with Rett syndrome using a fine grain scale.

A. Antonietti, D. Tavian, B. Colombo, 2014, Research in developmental disabilities.

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

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

Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes

A. Vignoli, E. Veneselli, S. Maitz, 2019, International journal of molecular sciences.

Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes

G. Zampino, A. Selicorni, D. Milani, 2008, Clinical genetics.

Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome

A. Selicorni, D. Milani, L. Larizza, 2009, Chromosome Research.

Disruption of Friend of GATA 2 gene (FOG‐2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis

F. Cavagnini, D. Giardino, L. Larizza, 2007, Clinical genetics.

Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls

G. Limongelli, A. Selicorni, C. Gervasini, 2014, Epigenetics.

Minor components of olive oil modulate proatherogenic adhesion molecules involved in endothelial activation.

M. Dell’Agli, G. Galli, E. Bosisio, 2006, Journal of agricultural and food chemistry.

Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype

L. Monti, F. Natacci, B. Bernardina, 2012, Molecular Cytogenetics.

Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation

D. Milani, Valentina Alari, S. Russo, 2020, American journal of medical genetics. Part A.

Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients

A. Selicorni, S. Maitz, C. Gervasini, 2016, American journal of medical genetics. Part C, Seminars in medical genetics.

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum

L. Garavelli, A. Selicorni, D. Melis, 2013, American journal of medical genetics. Part A.