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List of works by Antonio Novelli

15q11.2 microdeletion and hypoplastic left heart syndrome

scientific article published on 30 September 2015

16p subtelomeric duplication: a clinically recognizable syndrome.

scientific article

16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular breast cancer.

scientific article published on 3 February 2012

17p13.1 microdeletion: genetic and clinical findings in a new patient with epilepsy and comparison with literature

scientific article published on 01 January 2014

2q31.2q32.3 deletion syndrome: report of an adult patient

scientific article published on 01 February 2009

2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation

scientific article published on 3 December 2016

335.4 kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features.

scientific article published on 24 May 2012

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

scientific article

3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs.

scientific article published in August 2009

6p25 interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder.

scientific article

7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling

scientific article published on 11 November 2020

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

scientific article published on 17 June 2019

A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype

scientific article

A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity

scientific article published in May 2015

A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.

scientific article published on 14 June 2019

A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome

scientific article published on 30 May 2019

A lymphotactin-producing monoclonal T-cell lymphoproliferative disorder with extreme lymphocytopenia and progressive leukoencephalopathy

scientific article published on 01 July 2006

A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis

scientific article published on 09 September 2011

A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations

scientific article

Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.

scientific article

Aged induced pluripotent stem cell (iPSCs) as a new cellular model for studying premature aging

scientific article published on 31 May 2017

An additional clinical sign of 17q21.31 microdeletion syndrome: preaxial polydactyly of hands with broad thumbs.

scientific article published on 9 April 2015

An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome

scientific article published on 05 October 2018

Another patient with 12q13 microduplication

scientific article published on 03 July 2013

Array CGH in routine prenatal diagnosis practice

scientific article published on 01 July 2012

Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders.

scientific article published on 12 October 2017

Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF.

scientific article

Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene

article

Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene

scientific article published on 01 June 2019

Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family

scientific article published on July 2004

Azoospermia in a man with a constitutional ring 22 chromosome

scientific article published on 10 August 2010

Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene

article

Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation

scientific article published on 20 December 2018

COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells

scientific article published on 27 August 2020

Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.

scientific article published on 28 December 2017

Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes

article

Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome

article

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features ⬇️

scientific article published on May 24, 2013

Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review

scientific article published on 29 March 2019

Congenital heart defects in molecularly proven Kabuki syndrome patients.

scientific article published on 8 September 2017

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

scientific article published on 25 December 2012

Copy number variants in autism spectrum disorders

scientific article published on 20 February 2019

Correction to: Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres

scientific article published on 01 March 2019

Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation

scientific article published on 24 July 2018

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

scientific article published on 16 May 2013

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

scientific article published on 26 July 2018

De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation.

scientific article published on January 2009

Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

scientific article published on 2 April 2015

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

scientific article

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.

scientific article published on 31 March 2018

Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes

scientific article published on 17 June 2019

Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability

scientific article (publication date: September 2014)

Duplication 18q21.31-q22.2.

scientific article published in February 2007

Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1

scientific article published on 23 July 2018

Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1

scientific article published on 16 March 2015

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1

scientific article published on 03 August 2011

Exon-Trapping Assay Improves Clinical Interpretation of <i>COL11A1</i> and <i>COL11A2</i> Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia

scientific article published on 17 December 2020

Expanding the clinical and molecular spectrum of PRMT7 mutations: three additional patients and review

scientific article published on 13 September 2017

Expanding the phenotype of duplication of the Rubinsteinâ Taybi region on 16p13.3

scientific article published on 01 December 2009

Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues

scientific article (publication date: 17 March 2004)

FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion

scientific article published on 12 April 2011

FOXP1-related intellectual disability syndrome: a recognisable entity

scientific article

Facial comedonal acne in orofaciodigital syndrome type 1 caused by a novel frameshift variant in OFD1

scientific article published on 28 November 2018

Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH.

scientific article published in July 2010

Familial aggregation of “apple peel” intestinal atresia and cardiac left‐sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations

scientific article published on 20 May 2019

Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis.

scientific article published in January 2006

Fetal cells in maternal blood: a six-fold increase in women who have undergone amniocentesis and carry a fetus with Down syndrome: a multicenter study.

scientific article published in December 2004

First Report of Low-Rate Mosaicism for 20q11.21q12 Deletion and Delineation of the Associated Disorder

scientific article published on 30 October 2018

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

scientific article published on 15 September 2018

Five cases of supernumerary small ring chromosomes 1: Heterogeneity and genotype–phenotype correlation

scientific article published on 23 November 2006

Fluorescence in situ hybridization analysis of allelic losses involving the long arm of chromosome 17 in NF1-associated neurofibromas

scientific article published on 01 April 2004

Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome.

scientific article published on 29 July 2009

Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24.

scientific article

Greenhouse Crop Identification from Multi-Temporal Multi-Sensor Satellite Imagery Using Object-Based Approach: A Case Study from Almería (Spain)

HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication

scientific article

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement

scientific article published on 3 February 2018

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

scientific article published on 05 October 2018

High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism.

scientific article published in July 2004

Homozygous deletion in TUSC3 causing syndromic intellectual disability: a new patient

scientific article published on 04 July 2013

Human genetic and immunological determinants of critical COVID-19 pneumonia

scientific article published on 28 January 2022

Human neural stem cell transplantation in ALS: initial results from a phase I trial

scientific article

Hypopigmented skin patches in 17q21.31 microdeletion syndrome

scientific article published on 01 January 2014

Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome).

scientific article published in March 2010

Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient.

scientific article published on 27 April 2018

Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis

article

Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary

scientific article published on 16 April 2019

Improving georeferencing accuracy of Very High Resolution satellite imagery using freely available ancillary data at global coverage

Inhibition of HECT E3 ligases as potential therapy for COVID-19

scientific article

Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization.

scientific article published on 6 May 2017

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome

scientific article (publication date: July 2014)

Interstitial 4q deletion associated with a mosaic complementary supernumerary marker chromosome in prenatal diagnosis

scientific article published on 27 May 2013

Intrafamiliar clinical variability of Circumferential Skin Creases Kunze Type caused by a novel heterozygous mutation of N-terminal TUBB gene.

scientific article published on 10 February 2018

LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant

scientific article published on 18 December 2018

Left ventricular non compaction with aortic valve anomalies: A recurrent feature of 22q11.2 distal deletion syndrome.

scientific article published on 2 July 2015

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency.

scientific article

Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011 ⬇️

scientific article published on April 1, 2012

Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia

scientific article published on 23 February 2015

Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.

scientific article

Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p.

scientific article published on 20 December 2012

Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization

scientific article published on 01 June 2006

Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions

scientific article published on 23 October 2015

Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance

scientific article

New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer

scientific article published on 03 September 2015

Next-Generation Sequencing Identifies Different Genetic Defects in 2 Patients with Primary Adrenal Insufficiency and Gonadotropin-Independent Precocious Puberty

scientific article published on 04 September 2018

Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies

scientific article published on 06 May 2014

Novel EXT2 missense variants in a family with autosomal recessive EXT2-related syndrome (AREXT2): further evidences on the phenotype

scientific article published on 24 October 2018

Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis

scientific article published on 6 October 2017

Novel clinical features associated with Clouston syndrome

scientific article published on 05 June 2019

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

scientific article published on 7 March 2017

Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome ⬇️

scientific article published on 22 March 2019

Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism

scientific article published on 05 September 2018

Phenocopy of Wolf-Hirschhorn syndrome in a patient with duplication 12q13.3q14.1

scientific article published on 01 March 2009

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

scientific article

Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14

scientific article published on 18 December 2018

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.

scientific article published on 3 March 2018

Pure trisomy 19p syndrome in an infant with an extra ring chromosome

scientific article published on 01 January 2005

Reassessment of the 12q15 deletion syndrome critical region

scientific article published on 31 January 2017

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.

scientific article

Regulatory variants of FOXG1 in the context of its topological domain organisation.

scientific article published on 30 December 2017

Reproductive history of a healthy woman with mosaic duplication of chromosome 4p.

scientific article published in April 2005

Resistance to neoplastic transformation of ex-vivo expanded human mesenchymal stromal cells after exposure to supramaximal physical and chemical stress.

scientific article published on 15 October 2016

Response to Phelan K. et al.: Letter to the Editor Regarding Disciglio et al: Interstitial 22q13 deletions not involvingSHANK3gene: A new contiguous gene syndrome

article

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers

scientific article published on 20 July 2013

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

article

Specific combinations of biallelic variants cause Wiedemann-Rautenstrauch syndrome

scientific article published on 15 October 2018

Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome.

scientific article published on 11 August 2016

Spectrum of epilepsy in terminal 1p36 deletion syndrome

scientific article published on 21 November 2007

Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome.

scientific article published on 21 December 2015

Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres

scientific article published on 06 July 2018

Study of a family in the province of Matera presenting with glucose-6-phosphate dehydrogenase deficiency and Gilbert's syndrome

scientific article published on 08 March 2012

Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.

scientific article published in December 2007

The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria

scientific article published on 01 April 2018

The clinical utility and indications of chromosomal microarray analysis in prenatal diagnosis.

scientific article published in January 2013

The future of prenatal diagnosis: karyotype, microarray or both? Technical and ethical considerations

scientific article

Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis

scientific article published on 27 July 2018

Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease

article

Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.

scientific article published on 10 May 2017

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.

scientific article published on 14 September 2016

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation

scientific article published on 27 March 2019

Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13

scientific article published on 07 May 2014

X chromosome monosomy restricted to the left ventricle is not a major cause of isolated hypoplastic left heart

scientific article published on 01 August 2010

X-linked ichthyosis: clinical and molecular findings in 35 Italian patients.

scientific article published on 19 April 2018

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations

scientific article published on 01 October 2020

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