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Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series

Italian journal of pediatrics, 2017-07, Vol.43 (1), p.61-61, Article 61

2017

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Children and adults affected by Cri du Chat syndrome: Care's recommendations

Pediatric reports, 2019-02, Vol.11 (1), p.7839-7839

2019

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Interstitial deletion of chromosome 2p15-16.1: Report of two patients and critical review of current genotype–phenotype correlation

European journal of medical genetics, 2012-04, Vol.55 (4), p.238-244

2012

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Microdeletion 2q23.3q24.1: Exploring genotype‐phenotype correlations

Congenital anomalies, 2015-05, Vol.55 (2), p.107-111

2015

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

American journal of medical genetics. Part A, 2011-01, Vol.155A (1), p.221-224

2011

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Galliera Genetic Bank: A DNA and Cell Line Biobank from Patients Affected by Genetic Diseases

Open journal of bioresources, 2016-04, Vol.3, p.e1

2016

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Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases

American journal of medical genetics. Part A, 2006-09, Vol.140A (18), p.1944-1949

2006

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Concentration‐dependent metabolic effects of metformin in healthy and Fanconi anemia lymphoblast cells

Journal of cellular physiology, 2018-02, Vol.233 (2), p.1736-1751

2018

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Mild Generalized Epilepsy and Developmental Disorder Associated with Large Inv Dup(15)

Epilepsia (Copenhagen), 2002-09, Vol.43 (9), p.1096-1100

2002

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The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication

American journal of medical genetics. Part A, 2011-12, Vol.155 (12), p.3054-3059

2011

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Brachydactyly type E in an Italian family with 6p25 trisomy

European journal of medical genetics, 2017-03, Vol.60 (3), p.195-199

2017

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Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder

The Lancet (British edition), 2003-05, Vol.361 (9369), p.1617-1620

2003

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

American journal of medical genetics. Part A, 2012-06, Vol.158A (6), p.1427-1433

2012

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Cytogenetic Guidelines and Quality Assurance: a common European framework for quality assessment for constitutional and acquired cytogenetic investigations

European journal of human genetics : EJHG, 2007-05, Vol.15 (5), p.525-527

2007

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Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by fish and array-CGH

Journal of applied genetics, 2012-08, Vol.53 (3), p.285-288

2012

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12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay

Journal of applied genetics, 2011-08, Vol.52 (3), p.335-339

2011

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Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features

American journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.486-489

2010

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Microarray transcript profiling distinguishes the transient from the acute type of megakaryoblastic leukaemia (M7) in Down's syndrome, revealing PRAME as a specific discriminating marker

British journal of haematology, 2004-06, Vol.125 (6), p.729-742

2004

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4q13.1-21.1 Deletion Encompassing the HPE8 Locus in an Adolescent With Intellectual Disability and Bilateral Microphthalmia, But Without Holoprosencephaly

American journal of medical genetics. Part A, 2012, Vol.158 (6), p.1427-1433

2012

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Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders

Journal of genetics, 2011-12, Vol.90 (3), p.473-477

2011

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10qter deletion: A new case

American journal of medical genetics. Part A, 2008-09, Vol.146A (18), p.2435-2438

2008

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Pure segmental trisomy 1q42-qter in a boy with a severe phenotype

American journal of medical genetics. Part A, 2007-10, Vol.143A (19), p.2339-2342

2007

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Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: Cooperative study of 19 Italian laboratories

Genetics in medicine, 2005-11, Vol.7 (9), p.620-625

2005

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Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology

Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series

Children and adults affected by Cri du Chat syndrome: Care's recommendations

Interstitial deletion of chromosome 2p15-16.1: Report of two patients and critical review of current genotype–phenotype correlation

Microdeletion 2q23.3q24.1: Exploring genotype‐phenotype correlations

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

Galliera Genetic Bank: A DNA and Cell Line Biobank from Patients Affected by Genetic Diseases

Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases

Concentration‐dependent metabolic effects of metformin in healthy and Fanconi anemia lymphoblast cells

Mild Generalized Epilepsy and Developmental Disorder Associated with Large Inv Dup(15)

The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication

Brachydactyly type E in an Italian family with 6p25 trisomy

Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder

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

Cytogenetic Guidelines and Quality Assurance: a common European framework for quality assessment for constitutional and acquired cytogenetic investigations

Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by fish and array-CGH

12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay

Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features

Microarray transcript profiling distinguishes the transient from the acute type of megakaryoblastic leukaemia (M7) in Down's syndrome, revealing PRAME as a specific discriminating marker

4q13.1-21.1 Deletion Encompassing the HPE8 Locus in an Adolescent With Intellectual Disability and Bilateral Microphthalmia, But Without Holoprosencephaly

Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders

10qter deletion: A new case

Pure segmental trisomy 1q42-qter in a boy with a severe phenotype

Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: Cooperative study of 19 Italian laboratories

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

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