P. Pappi

发表

SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1–3, 6, and 7 by PCR and Capillary Electrophoresis

Eleonora, G. Stevanin, C. Gellera, 2018 .

Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.

G. Stevanin, C. Gellera, G. De Michele, 2018, The Journal of molecular diagnostics : JMD.

Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay.

A. Durr, A. Brice, G. Stevanin, 2006, The Journal of molecular diagnostics : JMD.

Consultations in Molecular Diagnostics Large Pathogenic Expansions in the SCA2 and SCA7 Genes Can Be Detected by Fluorescent Repeat-Primed Polymerase Chain Reaction Assay

A. Durr, A. Brice, G. Stevanin, 2006 .

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

A. Brusco, G. Ferrero, E. Giorgio, 2014, Molecular Cytogenetics.

High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay

I. Dianzani, A. Brusco, J. Svahn, 2012, Haematologica.

HDR syndrome: A novel “de novo” mutation in GATA3 gene

R. Lala, A. Ponzone, E. Garelli, 2009, American journal of medical genetics. Part A.

A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity

A. Brusco, G. Ferrero, E. Giorgio, 2016, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

CNVs analysis in a cohort of isolated and syndromic DD / ID reveals novel genomic disorders , position effects and candidate disease genes

Naretto, J. Buxbaum, M. Spielmann, 2022 .

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

J. Buxbaum, M. Spielmann, P. Provero, 2017, Clinical genetics.

Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications

B. Pasini, E. Gregorio, A. Brusco, 2016 .

Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications

B. Pasini, A. Brusco, G. Ferrero, 2015, Cytogenetic and Genome Research.

Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency

I. Dianzani, A. Brusco, M. Barberis, 2008, Haematologica.

Large Genomic Mutations within the ATM Gene Detected by MLPA, Including a Duplication of 41 kb from Exon 4 to 20

R. Gatti, A. Brusco, S. Cavalieri, 2007, Annals of human genetics.

An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene.

P. Hagerman, A. Brusco, F. Tassone, 2005, The Journal of molecular diagnostics : JMD.

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

A. Dürr, P. Ribai, S. Forlani, 2010, Human mutation.

Population data for Y-chromosome STR haplotypes from Piedmont (Italy).

A. Piazza, G. Matullo, C. Di Gaetano, 2006, Forensic science international.

A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q.

J. Mehta, B. Pasini, A. Brusco, 2017, European journal of medical genetics.

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

A. Dürr, P. Ribai, S. Forlani, 2010, Human mutation.

Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications

B. Pasini, A. Brusco, G. Ferrero, 2015, Cytogenetic and Genome Research.