List of works - Annalisa Vetro

A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea

scientific article

A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth

scientific article published on 01 June 2010

A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype

scientific article published on 9 August 2017

A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.

scientific article

A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype.

scientific article

A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics

scientific article published on 01 December 2008

APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes

scientific article

An interstitial 4q31.21q31.22 microdeletion associated with developmental delay: case report and literature review.

scientific article published on 09 April 2014

Array technology in prenatal diagnosis.

scientific article published on 05 January 2011

Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy.

scientific article published on 16 April 2011

Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome

scientific article published on 26 February 2014

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.

scientific article published on 31 October 2006

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

scientific article published on 31 August 2007

Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post‐array CGH era? ⬇️

scientific article published on February 10, 2011

De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia.

scientific article published on 12 June 2013

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

scientific article published on 10 December 2019

Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation

scientific article published on 12 May 2011

Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing

scientific article published on 20 December 2013

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations

scientific article published on 02 January 2020

Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatally

scientific article published on 01 October 2008

High-resolution genome-wide array comparative genomic hybridization in splenic marginal zone B-cell lymphoma

scientific article published on 03 August 2009

Identification of de novo mutations and rare variants in hypoplastic left heart syndrome

scientific article

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

scientific article

Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association

scientific article published on 07 April 2015

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation

scientific article published on 07 May 2014

MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.

scientific article published on 15 February 2017

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

scientific article

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.

scientific article published on 11 March 2013

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

scientific article published on 25 January 2019

Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome?

scientific article published on 01 February 2009

Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke.

scientific article

PRKACB and Carney complex

scientific article published on 26 February 2014

Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement.

scientific article published on 4 May 2013

Prenatal diagnosis of a fetus with ring chromosome 15 characterized by array-CGH

scientific article published on 01 September 2009

Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH.

scientific article published on 31 October 2013

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

scientific article published on 7 January 2015

Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature

scientific article published on 06 February 2014

Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion

scientific article

Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs.

scientific article

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

scientific article published on 5 November 2014

The phenotype of recurrent 10q22q23 deletions and duplications

scientific article

The use of array-CGH in a cohort of Greek children with developmental delay.

scientific article published on 9 November 2010

Unexpected results in the constitution of small supernumerary marker chromosomes

scientific article published on 28 January 2012

XX males SRY negative: a confirmed cause of infertility

scientific article

List of works by Annalisa Vetro

A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea

A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth

A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype

A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.

A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype.

A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics

APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes

An interstitial 4q31.21q31.22 microdeletion associated with developmental delay: case report and literature review.

Array technology in prenatal diagnosis.

Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy.

Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post‐array CGH era? ⬇️

De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia.

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation

Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations

Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatally

High-resolution genome-wide array comparative genomic hybridization in splenic marginal zone B-cell lymphoma

Identification of de novo mutations and rare variants in hypoplastic left heart syndrome

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation

MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome?

Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke.

PRKACB and Carney complex

Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement.

Prenatal diagnosis of a fetus with ring chromosome 15 characterized by array-CGH

Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH.

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature

Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion

Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs.

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

The phenotype of recurrent 10q22q23 deletions and duplications

The use of array-CGH in a cohort of Greek children with developmental delay.

Unexpected results in the constitution of small supernumerary marker chromosomes

XX males SRY negative: a confirmed cause of infertility