Lista de obras - Annalisa Vetro - Dominio Público Uruguay

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

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico

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.

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 2007

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

artículo científico publicado el 10 de febrero de 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

PRKACB and Carney complex.

artículo científico publicado en 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.

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

artículo científico publicado en 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

artículo científico

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

The phenotype of recurrent 10q22q23 deletions and duplications

artículo científico publicado en 2011

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

artículo científico publicado en 2010

Unexpected results in the constitution of small supernumerary marker chromosomes

artículo científico publicado en 2012

XX males SRY negative: a confirmed cause of infertility

artículo científico publicado en 2011

Lista de obras de 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