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The endless quarantine: the impact of the COVID-19 outbreak on healthcare workers after three months of mandatory social isolation in Argentina

Sleep medicine, 2020-12, Vol.76, p.16-25

2020

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European guidelines for constitutional cytogenomic analysis

European journal of human genetics : EJHG, 2019-01, Vol.27 (1), p.1-16

2019

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The “respiratory REM sleep without atonia benefit” on coexisting REM sleep behavior disorder - obstructive sleep apnea

Sleep science (São Paulo, SP ), 2021-01, Vol.14 (2), p.181-185

2021

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The rhythms of AMBEs (arousal-related motor behavioral episodes) in Agrypnia Excitata: a video motor analysis

Sleep medicine, 2020-10, Vol.74, p.224-226

2020

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Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

Cell reports (Cambridge), 2012-06, Vol.1 (6), p.648-655

2012

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iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability

Stem cell research, 2018-07, Vol.30, p.130-140

2018

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Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479) and c.3474G>A, p.(Trp1158) and missense c.4627G>T, p.(Asp1543Tyr) mutations

Stem cell research, 2019-10, Vol.40, p.101553-101553, Article 101553

2019

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Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features

Frontiers in genetics, 2018-11, Vol.9, p.600

2018

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Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277)

Stem cell research, 2018-07, Vol.30, p.175-179

2018

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Complex rearrangement involving 9p deletion and duplication in a syndromic patient: Genotype/phenotype correlation and review of the literature

Gene, 2012-07, Vol.502 (1), p.40-45

2012

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

Molecular cytogenetics, 2018-09, Vol.11 (1), p.53-8, Article 53

2018

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Genotype–phenotype correlations in a new case of 8p23.1 deletion and review of the literature

European journal of medical genetics, 2011-01, Vol.54 (1), p.55-59

2011

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7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature

European journal of medical genetics, 2015-11, Vol.58 (11), p.578-583

2015

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

Molecular genetics & genomic medicine, 2020-01, Vol.8 (1), p.e1056-n/a

2020

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European guidelines for constitutional cytogenomic analysis

European journal of human genetics : EJHG, 2019-01, Vol.27 (1), p.1-16

2019

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

Molecular cytogenetics, 2012-04, Vol.5 (1), p.16-16

2012

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Genetic investigations on 8 patients affected by ring 20 chromosome syndrome

BMC medical genetics, 2010-10, Vol.11 (1), p.146-146, Article 146

2010

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High-mobility group A2 gene expression is frequently induced in non-functioning pituitary adenomas (NFPAs), even in the absence of chromosome 12 polysomy

Endocrine-related cancer, 2005-12, Vol.12 (4), p.867-874

2005

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Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient

European journal of medical genetics, 2009-07, Vol.52 (4), p.218-223

2009

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Deletion of the Snord116/SNORD116 Alters Sleep in Mice and Patients with Prader-Willi Syndrome

Sleep (New York, N.Y.), 2016-03, Vol.39 (3), p.637-644

2016

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Survey of medical genetic services in Italy: year 2011

BMC health services research, 2016-03, Vol.16 (95), p.96-96, Article 96

2016

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Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant

Italian journal of pediatrics, 2017-11, Vol.43 (1), p.100-100, Article 100

2017

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Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism

European journal of medical genetics, 2020-02, Vol.63 (2), p.103639-103639, Article 103639

2020

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The endless quarantine: the impact of the COVID-19 outbreak on healthcare workers after three months of mandatory social isolation in Argentina

European guidelines for constitutional cytogenomic analysis

The “respiratory REM sleep without atonia benefit” on coexisting REM sleep behavior disorder - obstructive sleep apnea

The rhythms of AMBEs (arousal-related motor behavioral episodes) in Agrypnia Excitata: a video motor analysis

Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability

Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479) and c.3474G>A, p.(Trp1158) and missense c.4627G>T, p.(Asp1543Tyr) mutations

Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features

Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277)

Complex rearrangement involving 9p deletion and duplication in a syndromic patient: Genotype/phenotype correlation and review of the literature

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

Longitudinal tracking of human fetal cells labeled with super paramagnetic iron oxide nanoparticles in the brain of mice with motor neuron disease

Genotype–phenotype correlations in a new case of 8p23.1 deletion and review of the literature

7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature

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

European guidelines for constitutional cytogenomic analysis

The Italian National Survey for Prader-Willi syndrome: An epidemiologic study

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

Genetic investigations on 8 patients affected by ring 20 chromosome syndrome

High-mobility group A2 gene expression is frequently induced in non-functioning pituitary adenomas (NFPAs), even in the absence of chromosome 12 polysomy

Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient

Deletion of the Snord116/SNORD116 Alters Sleep in Mice and Patients with Prader-Willi Syndrome

Survey of medical genetic services in Italy: year 2011

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant

Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism

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