M. Grasso

发表

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

F. Tamanini, M. Gulisano, B. Oostra, 1998, Nature Genetics.

SNORD116 deletions cause Prader‐Willi syndrome with a mild phenotype and macrocephaly

G. Scarano, E. Gennaro, M. L. Galli, 2017, Clinical genetics.

The Italian National External Quality Assessment Program in Molecular Genetic Testing: Results of the VII Round (2010-2011)

D. Taruscio, P. Radice, V. Falbo, 2013, BioMed research international.

Aortic dilation in Sotos syndrome: An underestimated feature?

A. Colli, A. Selicorni, D. Milani, 2020, American journal of medical genetics. Part A.

The Italian External Quality Assessment scheme for fragile x syndrome: the results of a 5-year survey.

D. Taruscio, V. Falbo, A. Ferlini, 2008, Genetic testing.

Inclusion body myopathy, Paget’s disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling

G. Magnani, E. Schiatti, F. Zara, 2008, Clinical genetics.

Paternal uniparental disomy chromosome 14‐like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG‐ and the MEG3‐DMRs: Patient report and genotype–phenotype correlation

M. Carella, V. Antona, G. Corsello, 2015, American journal of medical genetics. Part A.

Effect of x-rays on chromosome 21 nondisjunction.

R. Sansone, G. Forni, P. Strigini, 2005, American journal of medical genetics. Supplement.

Epilepsy in Mowat–Wilson syndrome: Delineation of the electroclinical phenotype

F. Licata, E. Terazzi, S. Savasta, 2013, American journal of medical genetics. Part A.

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

K. Devriendt, G. Scarano, A. Toutain, 2018, Genetics in Medicine.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.

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.

Erratum: Mutations in GDI1 are responsible for X-linked non-specific mental retardation (Nature Genetics (1998) 19 (134-139))

F. Tamanini, M. Gulisano, B. Oostra, 1998 .

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth

G. Scarano, G. Neri, C. Pantaleoni, 2005, American journal of medical genetics. Part A.

High efficiency in the attribution of parental origin of non-disjunction in trisomy 21 by both cytogenetic and molecular polymorphisms

F. Bricarelli, N. Sacchi, L. Perroni, 1988, Human Genetics.

Premutation for the Martin-Bell syndrome analyzed in a large pedigree segregating also for G6PD-deficiency. I: A working hypothesis on the nature of the FRAX-mutations.

M. Rocchi, M. Pierluigi, M. Grasso, 1991, American journal of medical genetics.

Isochromosome not translocation in trisomy 21q21q

F. Bricarelli, L. Perroni, M. Pierluigi, 1989, Human Genetics.

Array CGH defined interstitial deletion on chromosome 14: a new case

M. Piccione, V. Antona, G. Corsello, 2010, European Journal of Pediatrics.

Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey

E. Calzolari, M. Genuardi, A. Ferlini, 2004, Prenatal diagnosis.

Origin of extra chromosome 21 in 343 families: cytogenetic and molecular approaches.

L. Perroni, P. Strigini, M. Pierluigi, 2005, American journal of medical genetics. Supplement.

Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome

D. Milani, C. Baldo, D. Coviello, 2023, Genes.

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

Andrea Menegon, Flavia Valtorta, Marina Grasso, 1998, Nature Genetics.

A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis.

E. Gennaro, A. Hadd, D. Coviello, 2014, The Journal of molecular diagnostics : JMD.

Premutation for the Martin-Bell syndrome analyzed in a large Sardinian family: III. Molecular analysis with the StB12.3 probe.

L. Perroni, M. Grasso, M. Siniscalco, 1996, American journal of medical genetics.

Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: a study of 87 families.

L. Zelante, C. Lo Nigro, L. Perroni, 1996, American journal of medical genetics.

Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.

M. P. Sperandeo, G. Andria, P. Chiurazzi, 1999, American journal of medical genetics.

Crossing over and chromosome 21 nondisjunction: a study of 60 families.

L. Perroni, P. Strigini, M. Pierluigi, 2005, American journal of medical genetics. Supplement.

Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome

A. Spalice, P. Iannetti, L. Papetti, 2011, Journal Genetika.

Workload measurement for molecular genetics laboratory: A survey study

Alessandra Ferlini, Paola Rimessi, Marina Grasso, 2018, PloS one.

Deletion of NSD1 exon 14 in Sotos syndrome: first description

M. Piccione, M. Cecconi, G. Corsello, 2011, Journal of Genetics.

FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene

E. Fernández, C. Bagni, E. Gennaro, 2018, Front. Genet..

Fragile X founder chromosomes in Italy: a few initial events and possible explanation for their heterogeneity.

B. Oostra, M. Genuardi, L. Kozák, 1996, American journal of medical genetics.

14q13.1‐21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly

S. Cavani, M. Piccione, G. Corsello, 2012, American journal of medical genetics. Part A.

MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting

M. Tommasi, E. Gennaro, V. Gatta, 2013, BMC Medical Genetics.

FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother

S. Cavani, F. Faravelli, F. Bricarelli, 2000, European Journal of Human Genetics.

Recurrence of Mowat–Wilson syndrome in siblings with a novel mutation in the ZEB2 gene

C. Pantaleoni, L. Garavelli, F. Faravelli, 2008, American journal of medical genetics. Part A.

The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype.

F. Faravelli, F. Forzano, M. Cecconi, 2010, Molecular and cellular probes.

A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.

F. Faravelli, P. Grammatico, F. Forzano, 2008, Journal of Molecular Diagnostics.

Prenatal diagnosis of 30 fetuses at risk for fragile X syndrome.

S. Colella, F. Bricarelli, G. Piombo, 1996, American journal of medical genetics.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.

FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3–q28 in a male and his mother

A. Mencarelli, S. Cavani, P. Prontera, 2011, American journal of medical genetics. Part A.

Combined molecular and cytogenetic analysis for the rapid diagnosis of fragile X syndrome.

P. Chiurazzi, M. Grasso, Q. Wang, 1996, Acta geneticae medicae et gemellologiae.

The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations

P. Bruzzi, E. Gennaro, M. T. Ricci, 2013, European Journal of Human Genetics.

M. Carella, G. Corsello, E. Piro, 2015, American journal of medical genetics. Part A.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.