Lista de obras -

A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome.

artículo científico publicado en 2013

A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome

artículo científico publicado en 2005

Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2 ⬇️

artículo científico publicado el 13 de julio de 1995

B-cell acute lymphoblastic leukemia and isochromosome 7q

artículo científico publicado en 1985

Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder

artículo científico publicado en 2019

Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)

artículo científico publicado en 2008

Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function.

artículo científico publicado en 2017

Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting

artículo científico publicado en 2020

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

artículo científico publicado en 2007

Craniofacial characteristics of fragile X syndrome in mouse and man.

artículo científico publicado en 2012

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

artículo científico publicado en 2007

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome.

artículo científico publicado en 2010

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

scientific article published on 15 November 2007

Early Motor Delay: An Outstanding, Initial Sign of Osteogenesis Imperfecta Type 1.

artículo científico publicado en 2017

Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders.

artículo científico publicado en 2017

Gene-targeted deletion in mice of the Ets-1 transcription factor, a candidate gene in the Jacobsen syndrome kidney "critical region," causes abnormal kidney development

scientific article published on 13 November 2018

Growth hormone, gender and face shape in prader-willi syndrome

artículo científico publicado en 2013

Interstitial 16p13.3 microduplication: Case report and critical review of genotype–phenotype correlation ⬇️

artículo científico publicado el 29 de septiembre de 2012

Jacobsen syndrome.

artículo científico publicado en 2009

Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation.

artículo científico publicado en 2017

Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series

artículo científico publicado en 2019

Mental retardation and early onset of weakness in a girl with a dystrophinopathy and a large Xp21-23 deletion

artículo científico publicado en 2003

Micromegakaryocytes in a patient with partial deletion of the long arm of chromosome 11 [del(11)(q24.2qter)] and chronic thrombocytopenic purpura

artículo científico publicado en 1996

Mild cystic fibrosis in patients with the rare P5L CFTR mutation

scientific article published on 07 October 2011

Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature.

artículo científico publicado en 2017

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

artículo científico publicado en 2011

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants

scientific article published on 01 July 2019

Narrowing the deleted region associated with the 15q21 syndrome

scientific article published on 01 July 2005

Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21

scientific article published on 25 June 2019

Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis

artículo científico publicado en 2019

RFLP analysis in 5 Sicilian families with the fragile X syndrome ⬇️

artículo científico publicado el 1 de febrero de 1991

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

artículo científico publicado en 2018

SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant.

artículo científico publicado en 2018

Safety and effectiveness of an acellular pertussis vaccine in subjects with Down's syndrome

scientific article published on 01 February 1996

Small 4p16.3 deletions: Three additional patients and review of the literature

article

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

artículo científico publicado en 2018

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

artículo científico publicado en 2015

Twins with acardia and anencephaly

Unstable translocations: a new case? ⬇️

artículo científico publicado el 1 de febrero de 1991

Wolfram's syndrome and HLA.

artículo científico publicado en 1988

[Coarctation of the aorta with aortic arch hypoplasia in newborn with partial trisomy 11q associated to 4q interstitial deletion]

artículo científico publicado en 2010

Lista de obras de

A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome.

A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome

Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2 ⬇️

B-cell acute lymphoblastic leukemia and isochromosome 7q

Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder

Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)

Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function.

Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

Craniofacial characteristics of fragile X syndrome in mouse and man.

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

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome.

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

Early Motor Delay: An Outstanding, Initial Sign of Osteogenesis Imperfecta Type 1.

Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders.

Gene-targeted deletion in mice of the Ets-1 transcription factor, a candidate gene in the Jacobsen syndrome kidney "critical region," causes abnormal kidney development

Growth hormone, gender and face shape in prader-willi syndrome

Interstitial 16p13.3 microduplication: Case report and critical review of genotype–phenotype correlation ⬇️

Jacobsen syndrome.

Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation.

Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series

Mental retardation and early onset of weakness in a girl with a dystrophinopathy and a large Xp21-23 deletion

Micromegakaryocytes in a patient with partial deletion of the long arm of chromosome 11 [del(11)(q24.2qter)] and chronic thrombocytopenic purpura

Mild cystic fibrosis in patients with the rare P5L CFTR mutation

Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature.

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants

Narrowing the deleted region associated with the 15q21 syndrome

Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21

Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis

RFLP analysis in 5 Sicilian families with the fragile X syndrome ⬇️

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant.

Safety and effectiveness of an acellular pertussis vaccine in subjects with Down's syndrome

Small 4p16.3 deletions: Three additional patients and review of the literature

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

Twins with acardia and anencephaly

Unstable translocations: a new case? ⬇️

Wolfram's syndrome and HLA.

[Coarctation of the aorta with aortic arch hypoplasia in newborn with partial trisomy 11q associated to 4q interstitial deletion]