List of works - Palma Finelli

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

scientific article published in January 2007

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

scientific article published on 19 September 2018

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

scientific article published on 17 June 2019

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

scientific article published on 4 January 2018

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

scientific article published on March 2016

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

scientific article published on 4 July 2012

A novel mosaicNSD1intragenic deletion in a patient with an atypical phenotype

scientific article published on 22 January 2013

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

scientific article published on 29 October 2013

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

scientific article published on 11 April 2010

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

scientific article published on 25 March 2015

Characterization of chimpanzee-hamster hybrids by chromosome painting.

scientific article published on September 1994

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

scientific article published in May 2001

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

scientific article published on 17 February 2014

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

scientific article published in September 1994

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

scientific article published in June 2011

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

scientific article published on January 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

scientific article published on 22 October 2014

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

scientific article published on 20 October 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

scientific article published in December 2005

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

scientific article published on 21 February 2009

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

scientific article published on 30 October 2013

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

scientific article published on 01 July 1999

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

scientific article published on 19 April 2018

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

scientific article published in June 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.

scientific article published on March 2007

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

scientific article published on November 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.

scientific article published on 21 April 2016

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

scientific article published on 6 April 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.

scientific article published in July 2004

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

scientific article published in November 2001

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

scientific article published in October 2001

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome

scientific article published on 26 March 2015

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

scientific article published on 15 October 2008

Fetal cell microchimerism: a protective role in autoimmune thyroid diseases

scientific article published on 27 April 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).

scientific article published on January 2009

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

scientific article published on 21 October 2015

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

scientific article published on 08 December 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*)

scientific article published on 18 June 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

scientific article published on 12 October 2010

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

scientific article published on 3 April 2013

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

scientific article published on 20 October 2010

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

scientific article published in December 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

scientific article published on 22 December 2011

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

scientific article published on 22 February 2012

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

scientific article published on 4 April 2012

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

scientific article (publication date: July 1994)

Misbehaviour of XIST RNA in breast cancer cells

scientific article published on 15 May 2009

Molecular analysis of 11q13 breakpoints in multiple myeloma.

scientific article published on February 1999

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

scientific article published in August 2006

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

scientific article published on 8 January 2013

Molecular cytogenetic dissection of human chromosomes 3 and 21 evolution

scientific article published on January 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).

scientific article published in October 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

scientific article published on 2 May 2014

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

scientific article published on 01 May 2000

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

scientific article published in July 2012

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

scientific article published on 22 April 2014

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

scientific article

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

scientific article published in 2007

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

scientific article published in February 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.

scientific article published in April 2001

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

scientific article published on 6 April 2018

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

scientific article published on 5 May 2011

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

scientific article published in August 2002

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

scientific article published in December 1996

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

scientific article published on 01 October 2021

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