Lista de obras - Palma Finelli - Dominio Público Uruguay

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients

artículo científico publicado en 2007

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

artículo científico publicado en 2018

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression

artículo científico publicado en 2019

A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature

artículo científico publicado en 2018

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes

artículo científico publicado en 2016

A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype

artículo científico publicado en 2012

A novel mosaicNSD1intragenic deletion in a patient with an atypical phenotype

artículo científico publicado en 2013

ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing

artículo científico publicado en 2013

Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficits

artículo científico publicado en 2010

Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire

artículo científico publicado en 2015

Characterization of chimpanzee-hamster hybrids by chromosome painting.

artículo científico

Characterization of the t(4;14)(p16.3;q32) in the KMS-18 multiple myeloma cell line.

artículo científico publicado en 2001

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

artículo científico publicado en 2014

Cloning and comparative mapping of recently evolved human chromosome 22-specific alpha satellite DNA

artículo científico publicado en 1994

Combined characterization of a pituitary adenoma and a subcutaneous lipoma in a MEN1 patient with a whole gene deletion

artículo científico publicado en 2011

Comparative fluorescence in situ hybridization mapping of primate chromosomes with Alu polymerase chain reaction generated probes from human/rodent somatic cell hybrids

artículo científico publicado en 1996

Complexde novochromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature

artículo científico publicado en 2014

Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors

artículo científico publicado en 2015

Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child

article by Daniela Giardino et al published December 2001 in European Journal of Human Genetics

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

artículo científico publicado en 2005

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

artículo científico publicado en 2009

Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes ⬇️

artículo científico publicado en 2013

Detection of t(4;14)(p16.3;q32) chromosomal translocation in multiple myeloma by double-color fluorescent in situ hybridization

artículo científico publicado en 1999

Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms.

artículo científico publicado en 2018

Differential electrophysiological features of neuropathies associated with 17p11.2 deletion and duplication

artículo científico publicado en 1995

Disruption of friend of GATA 2 gene (FOG-2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis.

artículo científico publicado en 2007

EHT, a new member of the MTG8/ETO gene family, maps on 20q11 region and is deleted in acute myeloid leukemias.

artículo científico publicado en 1998

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

artículo científico publicado en 2016

Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes

artículo científico publicado en 2007

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders

scientific article published on 26 February 2019

FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour.

artículo científico publicado en 2004

FISH characterization of a supernumerary r(1)(::cen-->q22::q22-->sq21::) chromosome associated with multiple anomalies and bilateral cataracts.

artículo científico publicado en 2001

FISH characterization of t(8;12)(q12;p13) observed as the sole karyotypic anomaly in a myelodysplastic syndrome patient

artículo científico publicado en 2001

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome

artículo científico publicado en 2015

Fetal Cell Microchimerism in Papillary Thyroid Cancer: A Possible Role in Tumor Damage and Tissue Repair

artículo científico publicado en 2008

Fetal cell microchimerism: a protective role in autoimmune thyroid diseases

artículo científico publicado en 2015

Fluorescence in situ hybridization dissection of a chronic myeloid leukemia case bearing the apparently balanced translocations (9;22)(q34;q11.2) and (11;11)(p15;q13).

artículo científico publicado en 2009

From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

artículo científico publicado en 2015

Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome

artículo científico publicado en 2013

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*)

artículo científico publicado en 2018

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

scientific article published on 28 August 2019

Genetic investigations on 8 patients affected by ring 20 chromosome syndrome

artículo científico publicado en 2010

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2005

High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function

article

Increased loss of the Y chromosome in peripheral blood cells in male patients with autoimmune thyroiditis

artículo científico publicado en 2011

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

artículo científico publicado en 2012

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

artículo científico publicado en 2012

Mapping of the human NMDAR2B receptor subunit gene (GRIN2B) to chromosome 12p12

artículo científico publicado en 1994

Misbehaviour of XIST RNA in breast cancer cells

artículo científico publicado en 2009

Molecular analysis of 11q13 breakpoints in multiple myeloma.

artículo científico publicado en 1999

Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region

artículo científico publicado en 2006

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.

artículo científico publicado en 2013

Molecular cytogenetic dissection of human chromosomes 3 and 21 evolution

artículo científico publicado en 2000

Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26).

artículo científico publicado en 2003

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

artículo científico publicado en 2014

Non-random trisomies of chromosomes 5, 8 and 12 in the prolactinoma sub-type of pituitary adenomas: Conventional cytogenetics and interphase fish study

artículo científico publicado en 2000

Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations.

artículo científico publicado en 2012

Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls

artículo científico publicado en 2014

Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs.

artículo científico publicado en 2006

Prenatal diagnosis of a small chromosome 2-derived supernumerary marker, and review of the reported cases

artículo científico publicado en 2007

Pure 6p22-pter trisomic patient: refined FISH characterization and genotype-phenotype correlation.

artículo científico publicado en 2002

Refined FISH characterization of a de novo 1p22-p36.2 paracentric inversion and associated 1p21-22 deletion in a patient with signs of 1p36 microdeletion syndrome.

artículo científico publicado en 2001

Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.

artículo científico publicado en 2018

SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case.

artículo científico publicado en 2011

Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation.

artículo científico publicado en 2002

Structural organization of multiple alphoid subsets coexisting on human chromosomes 1, 4, 5, 7, 9, 15, 18, and 19.

artículo científico publicado en 1996

Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency

artículo científico publicado en 2021

The High Mobility Group A2 gene is amplified and overexpressed in human prolactinomas

article

The Ste locus, a component of the parasitic cry-Ste system of Drosophila melanogaster, encodes a protein that forms crystals in primary spermatocytes and mimics properties of the beta subunit of casein kinase 2.

artículo científico publicado en 1995

The ZNF75 zinc finger gene subfamily: isolation and mapping of the four members in humans and great apes.

artículo científico publicado en 1996

The active gene that encodes human high mobility group 1 protein (HMG1) contains introns and maps to chromosome 13

artículo científico publicado en 1996

The evolutionary history of human chromosome 7.

artículo científico publicado en 2004

The genes encoding the glutamate receptor subunits KA1 and KA2 (GRIK4 and GRIK5) are located on separate chromosomes in human, mouse, and rat

artículo científico publicado en 1994

The human skeletal muscle glycogenin gene: cDNA, tissue expression and chromosomal localization.

artículo científico publicado en 1996

Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation

scientific article published on 20 June 2020

Trisomy 15q25.2-qter in an autistic child: Genotype-phenotype correlations

artículo científico publicado en 2005

Two mosaic-YY males carrying asymmetric Y chromosomes

scientific article published on 01 January 1997

Unbalanced segregation of a complex four-break 5q23-31 insertion in the 5p13 band in a malformed child

artículo científico publicado en 2004

Y chromosome loss in male patients with primary biliary cirrhosis

artículo científico publicado en 2013

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

artículo científico publicado en 2018

Lista de obras de Palma Finelli

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients

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

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression

A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes

A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype

A novel mosaicNSD1intragenic deletion in a patient with an atypical phenotype

ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing

Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficits

Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire

Characterization of chimpanzee-hamster hybrids by chromosome painting.

Characterization of the t(4;14)(p16.3;q32) in the KMS-18 multiple myeloma cell line.

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

Cloning and comparative mapping of recently evolved human chromosome 22-specific alpha satellite DNA

Combined characterization of a pituitary adenoma and a subcutaneous lipoma in a MEN1 patient with a whole gene deletion

Comparative fluorescence in situ hybridization mapping of primate chromosomes with Alu polymerase chain reaction generated probes from human/rodent somatic cell hybrids

Complexde novochromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature

Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors

Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child

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

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

Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes ⬇️

Detection of t(4;14)(p16.3;q32) chromosomal translocation in multiple myeloma by double-color fluorescent in situ hybridization

Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms.

Differential electrophysiological features of neuropathies associated with 17p11.2 deletion and duplication

Disruption of friend of GATA 2 gene (FOG-2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis.

EHT, a new member of the MTG8/ETO gene family, maps on 20q11 region and is deleted in acute myeloid leukemias.

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders

FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour.

FISH characterization of a supernumerary r(1)(::cen-->q22::q22-->sq21::) chromosome associated with multiple anomalies and bilateral cataracts.

FISH characterization of t(8;12)(q12;p13) observed as the sole karyotypic anomaly in a myelodysplastic syndrome patient

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome

Fetal Cell Microchimerism in Papillary Thyroid Cancer: A Possible Role in Tumor Damage and Tissue Repair

Fetal cell microchimerism: a protective role in autoimmune thyroid diseases

Fluorescence in situ hybridization dissection of a chronic myeloid leukemia case bearing the apparently balanced translocations (9;22)(q34;q11.2) and (11;11)(p15;q13).

From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome

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*)

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

Genetic investigations on 8 patients affected by ring 20 chromosome syndrome

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

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

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

High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function

Increased loss of the Y chromosome in peripheral blood cells in male patients with autoimmune thyroiditis

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

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

Mapping of the human NMDAR2B receptor subunit gene (GRIN2B) to chromosome 12p12

Misbehaviour of XIST RNA in breast cancer cells

Molecular analysis of 11q13 breakpoints in multiple myeloma.

Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.

Molecular cytogenetic dissection of human chromosomes 3 and 21 evolution

Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26).

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

Non-random trisomies of chromosomes 5, 8 and 12 in the prolactinoma sub-type of pituitary adenomas: Conventional cytogenetics and interphase fish study

Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations.

Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls

Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs.

Prenatal diagnosis of a small chromosome 2-derived supernumerary marker, and review of the reported cases

Pure 6p22-pter trisomic patient: refined FISH characterization and genotype-phenotype correlation.

Refined FISH characterization of a de novo 1p22-p36.2 paracentric inversion and associated 1p21-22 deletion in a patient with signs of 1p36 microdeletion syndrome.

Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.

SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case.

Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation.

Structural organization of multiple alphoid subsets coexisting on human chromosomes 1, 4, 5, 7, 9, 15, 18, and 19.

Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency

The High Mobility Group A2 gene is amplified and overexpressed in human prolactinomas

The Ste locus, a component of the parasitic cry-Ste system of Drosophila melanogaster, encodes a protein that forms crystals in primary spermatocytes and mimics properties of the beta subunit of casein kinase 2.

The ZNF75 zinc finger gene subfamily: isolation and mapping of the four members in humans and great apes.

The active gene that encodes human high mobility group 1 protein (HMG1) contains introns and maps to chromosome 13

The evolutionary history of human chromosome 7.

The genes encoding the glutamate receptor subunits KA1 and KA2 (GRIK4 and GRIK5) are located on separate chromosomes in human, mouse, and rat

The human skeletal muscle glycogenin gene: cDNA, tissue expression and chromosomal localization.

Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation

Trisomy 15q25.2-qter in an autistic child: Genotype-phenotype correlations

Two mosaic-YY males carrying asymmetric Y chromosomes

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*)

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